pervasive developmental disorders jvd.docx lecture notes

Pervasive developmental disorders (PDDs) are a group of neurodevelopmental conditions characteristically marked by delays and significant difficulties in socialization, communication, and the presence of repetitive or stereotyped behaviors. These disorders typically become noticeable before the age of three. Children may experience a wide range of symptoms that include problems with language usage, difficulty establishing and maintaining relationships, challenges adapting to changes, repetitive movements like hand flapping, and unusual reactions to sensory input such as sounds, lights, and textures.
Though all PDDs share similar core features, the severity and the specific symptoms can vary widely from one individual to another. Some individuals may have mild symptoms, while others may exhibit severe challenges that affect their daily functioning and ability to interact with the world around them. Over the years, the term “PDD” was used to describe these disorders, but advancements in research and clinical practice have led to a broader categorization. Nowadays, most forms of PDD are included within the larger and more comprehensive category of autism spectrum disorder (ASD), which recognizes the broad variations and unique presentations of these conditions.
Historically, five main types of pervasive developmental disorders were identified:
Autistic Disorder (Classic Autism):
This represents the classic form of autism, marked by pronounced social and communication impairments. Children often speak less, struggle to form friendships, and show narrowly focused interests. Behaviors can be ritualistic and repetitive, such as lining up objects or repeating phrases. The severity ranges considerably from person to person, with some requiring substantial support in daily life.
Asperger’s Syndrome:
Asperger’s is distinguished by struggles in social interaction and the presence of highly focused, repetitive interests. However, unlike classic autism, individuals do not show significant delays in language development or cognitive abilities. They may speak fluently and possess strong intellectual skills, but find interpreting social cues and managing reciprocal conversations very challenging. Recent editions of psychiatric diagnostic manuals have merged Asperger’s syndrome into the broader autism spectrum and no longer recognize it as a separate diagnosis.
Childhood Disintegrative Disorder (CDD):
Also known as Heller’s syndrome, CDD is characterized by a dramatic regression after two to four years of typical development. Children lose previously acquired skills in language, socialization, and motor functions, which leads to severe limitations in their ability to interact and function. CDD is considered extremely rare and profoundly affects a child’s abilities and independence.
Rett Syndrome:
A rare genetic disorder, Rett syndrome predominantly affects females. After a period of apparently normal development,

1. Pervasive developmental disorders (PDDs) are a group of
neurodevelopmental conditions characteristically marked by
delays and significant difficulties in socialization,
communication, and the presence of repetitive or stereotyped
behaviors. These disorders typically become noticeable before the
age of three. Children may experience a wide range of symptoms
that include problems with language usage, difficulty establishing
and maintaining relationships, challenges adapting to changes,
repetitive movements like hand flapping, and unusual reactions
to sensory input such as sounds, lights, and textures.
Though all PDDs share similar core features, the severity and the
specific symptoms can vary widely from one individual to
another. Some individuals may have mild symptoms, while
others may exhibit severe challenges that affect their daily
functioning and ability to interact with the world around them.
Over the years, the term “PDD” was used to describe these
disorders, but advancements in research and clinical practice
have led to a broader categorization. Nowadays, most forms of
1

2. PDD are included within the larger and more comprehensive
category of autism spectrum disorder (ASD), which recognizes the
broad variations and unique presentations of these conditions.
Historically, five main types of pervasive developmental disorders
were identified:
Autistic Disorder (Classic Autism):
This represents the classic form of autism, marked by
pronounced social and communication impairments. Children
often speak less, struggle to form friendships, and show narrowly
focused interests. Behaviors can be ritualistic and repetitive,
such as lining up objects or repeating phrases. The severity
ranges considerably from person to person, with some requiring
substantial support in daily life.
Asperger’s Syndrome:
Asperger’s is distinguished by struggles in social interaction and
the presence of highly focused, repetitive interests. However,
unlike classic autism, individuals do not show significant delays
in language development or cognitive abilities. They may speak
fluently and possess strong intellectual skills, but find
interpreting social cues and managing reciprocal conversations
very challenging. Recent editions of psychiatric diagnostic
manuals have merged Asperger’s syndrome into the broader
autism spectrum and no longer recognize it as a separate
diagnosis.
Childhood Disintegrative Disorder (CDD):
Also known as Heller’s syndrome, CDD is characterized by a
dramatic regression after two to four years of typical
development. Children lose previously acquired skills in
language, socialization, and motor functions, which leads to
severe limitations in their ability to interact and function. CDD is
considered extremely rare and profoundly affects a child’s
abilities and independence.
Rett Syndrome:
A rare genetic disorder, Rett syndrome predominantly affects
females. After a period of apparently normal development,
children with Rett syndrome experience a loss of purposeful hand
skills, diminished mobility, and the appearance of repetitive hand
movements such as wringing or washing. Neurological symptoms
progressively worsen, and affected individuals may face
difficulties in walking, coordination, and other bodily functions.
Rett syndrome is sometimes included within ASD, though its
2

3. genetic origin and unique clinical course often warrant separate
consideration.
Pervasive Developmental Disorder Not Otherwise Specified
(PDD-NOS):
PDD-NOS is a broad, catch-all diagnosis for children who
demonstrate some symptoms of autism or related disorders but
do not fit the criteria for the other specific types. Individuals may
have problems with social interaction, communication, and
certain behaviors, but the pattern and severity do not precisely
match autistic disorder, Asperger’s, or the other established
categories. With the arrival of updated classification systems,
most cases formerly diagnosed as PDD-NOS are now
encompassed under autism spectrum disorder.
Key features and challenges associated with pervasive
developmental disorders include consistent difficulties in both
verbal and nonverbal communication—children may not develop
speech as expected, use gestures in unconventional ways, or
misinterpret body language. There is often trouble adapting to
changes in daily routine or unfamiliar surroundings. Routines
become vital to comfort, and even minor disruptions may result
in distress or behavioral outbursts. Repetitive or stereotyped
movements, such as rocking, spinning, or precise organizing of
objects, are prevalent. Responses to sensory stimuli can be
atypical: some children are extremely sensitive to certain sounds,
lights, or textures, while others seem unresponsive to such
sensations.
Intellectual abilities within PDDs display considerable variation.
Some children have profound intellectual disability, while others
demonstrate average or even advanced intelligence. This range
necessitates personalized approaches to support, education, and
intervention.
In recent years, particularly since 2013 with the adoption of
updated psychiatric classification systems such as DSM-5, all
previous subtypes of PDDs have generally been merged into the
umbrella term “autism spectrum disorder.” This reflects an
understanding that the distinctions between these disorders are
not always clear-cut and that autism encompasses a spectrum of
presentations. Rett syndrome may be included in certain contexts
3

4. but is frequently discussed separately because of its distinctive
genetic cause.
Autistic Disorder (Classic Autism)
Autism spectrum disorder
Definition and Origins
Autistic Disorder, commonly referred to as classic autism, is a
neurodevelopmental condition that fundamentally alters the way
an individual communicates, interacts socially, and behaves. The
term “autism” was first introduced by Dr. Leo Kanner in 1943,
describing children who presented with profound difficulties in
social interaction, communication, and unusual patterns of
behavior that appeared rigid and repetitive. Another significant
figure is Dr. Hans Asperger, who, around the same time,
described similar traits in children with normal language
development. These foundational works paved the way for
decades of research, culminating in the modern classification of
autism spectrum disorder (ASD) as defined in clinical manuals
such as the DSM-5 (Diagnostic and Statistical Manual of Mental
Disorders, Fifth Edition) and the ICD-11 (International
Classification of Diseases, 11th Revision) published by the World
Health Organization.
Etiology
Autistic Disorder has a multifactorial etiology. The underlying
causes include a complex interplay of genetic factors,
4

5. environmental influences, and biochemical abnormalities.
Genetic studies have identified hundreds of gene variants that
contribute to autism risk, including mutations affecting synaptic
development, neuronal migration, and metabolic pathways. Some
cases are associated with chromosomal abnormalities (e.g.,
Fragile X syndrome, Rett syndrome), but in most, the genetic
roots are subtle and polygenic. Environmental factors, such as
advanced parental age, prenatal exposure to certain drugs or
toxins, complications during pregnancy or birth, and perinatal
infections, may increase risk. There is no evidence supporting
vaccines as a cause. The accepted pathogenesis is that a
disruption in normal brain development during early gestation or
infancy leads to classic features of autism.
Pathology
Neuropathological studies reveal irregularities in brain structure
and function in individuals with autistic disorder. Notable
changes include altered size and connectivity of the amygdala,
hippocampus, and cerebellum, regions crucial for sensory
integration, emotion, and coordination. Cerebral cortex layering
may be abnormal, and there are often differences in the density
and function of neurons and synapses. Neurotransmitter systems
such as serotonin, dopamine, and glutamate are commonly
dysregulated. Functional MRI and PET scans demonstrate
atypical brain activation patterns during social and linguistic
tasks, reflecting the disrupted neural circuits underpinning
autism’s behaviors.
Signs, Symptoms, and Characteristics
Children with Autistic Disorder consistently show deficits in
social communication. They might avoid eye contact, display
limited facial expressions, and rarely engage in reciprocal social
exchanges. Speech can be delayed, absent, or socially atypical—
some might speak only to repeat phrases (echolalia) or use
formal, repetitive language. They often have difficulty recognizing
or expressing their own emotions, and struggle to interpret
others’ gestures, tone, or mood. Play is stereotyped and lacks
imaginative or symbolic elements, with many preferring objects
over people. Repetitive rocking, spinning objects, lining up toys,
or hand-flapping are common. Strict adherence to routines is
typical; even minor changes can trigger distress. Sensory
sensitivities are frequent, with strong aversion or fascination
towards specific sounds, lights, textures, or smells. Cognitive
5

6. abilities vary greatly, with some having intellectual disability and
others normal or above-average intelligence.
Clinical Features
The disorder usually manifests before age three. Parents may
notice poor eye contact, minimal response to name, lack of
pointing or social gestures, delayed language milestones, little
interest in playing with peers, and emergence of repetitive
movements or unusual fixation on specific topics or objects.
Aggressive behaviors, self-harm (such as biting or head-banging),
and severe temper tantrums may occur, especially if routines are
disrupted. Gastrointestinal issues, sleep disturbances, and
feeding problems may be present in some children. Emotional
regulation can be challenging, causing significant difficulty in
adapting to typical childhood environments.
Types and Classification
Classic autism falls under the broader umbrella of autism
spectrum disorder, which includes related conditions such as
Asperger’s syndrome, childhood disintegrative disorder, Rett
syndrome, and PDD-NOS. With the advent of DSM-5 and ICD-11,
all these subtypes are now considered part of ASD, with “Classic
Autism” generally referring to cases with more severe social and
communication deficits and noticeable repetitive behaviors.
Severity is specified by clinical impairment levels in social
communication and restricted, repetitive patterns of behavior.
Testing Methods and Examination Procedures
Diagnosis is clinical and based on comprehensive behavioral
observation and developmental history. Pediatricians,
neurologists, child psychologists, and speech-language
pathologists work together to assess milestones, communication
skills, and behavior. Standard screening questionnaires, such as
the Modified Checklist for Autism in Toddlers (M-CHAT),
Childhood Autism Rating Scale (CARS), Autism Diagnostic
Interview-Revised (ADI-R), and Autism Diagnostic Observation
Schedule (ADOS-2) are routinely used. Examination includes
parental interviews, direct observation in structured and natural
settings, neurological exam (to rule out other causes), audiology
(hearing test), and ophthalmology (vision test).
Assessment Forms and Procedures
Widely used forms include:
ADOS-2: A semi-structured, play-based assessment with
standardized activities that allow observation of social,
6

7. communicative, and play skills. Administered by trained
clinicians.
CARS: A rating scale completed by clinicians, based on
direct observation and parent report.
DSM-5 Criteria Checklists: Used to record and evaluate
symptoms and severity.
Vineland Adaptive Behavior Scales: Evaluates social
maturity, communication skills, and daily living abilities,
involving parent interviews.
Social Responsiveness Scale (SRS): Completed by parents or
teachers to capture difficulties in social engagement and
communication.
Procedures typically require a multi-hour assessment, direct
child observation, parental interview, and sometimes
teacher questionnaires.
Radiological Imaging and Investigations
Imaging methods like MRI and CT scans primarily rule out
structural brain abnormalities, tumors, or injury rather than
diagnose autism. Functional imaging (fMRI, PET) may show
atypical cortical activity or connectivity but is not used in routine
clinical practice. Genetic testing (array CGH, whole-exome
sequencing) is recommended if dysmorphic features or severe
intellectual disability are present, aiming to identify genetic
syndromes or chromosomal anomalies. Other laboratory tests
may screen for metabolic disorders, lead poisoning, and thyroid
function if clinically indicated.
Differential Diagnosis
Differentials include intellectual disability, specific language
impairment, hearing impairment, global developmental delay,
attention deficit hyperactivity disorder (ADHD), selective mutism,
childhood-onset schizophrenia, and genetic syndromes (e.g., Rett
syndrome, Fragile X). Careful assessment of developmental
history, cognitive profile, and communication skills helps
distinguish classic autism from these conditions.
Treatment: Surgical and Non-Surgical
There is no surgical cure for autistic disorder. Non-surgical
management forms the cornerstone, focusing on individualized
therapies and support.
Medications and Their Uses
Medications target associated symptoms, not the core features:
7

8. Risperidone and aripiprazole: Used for irritability,
aggression, and severe temper tantrums.
Stimulants (methylphenidate): Manage co-morbid ADHD
symptoms.
SSRIs: Address anxiety, obsessive-compulsive behaviors,
and depression.
Sleep aids: Melatonin may be prescribed for sleep
disturbances.
Dosing and selection depend on age, comorbidities, and
symptom severity. Medication is typically adjunct to
behavioral and educational therapy.
1. Psychotherapy Treatment
Psychotherapy focuses on supporting emotional resilience, self-
advocacy skills, and social competence. Cognitive-behavioral
therapy (CBT) is used for children with sufficient verbal abilities,
addressing anxiety, rigidity of thought, and emotional
dysregulation. Parent training may be offered to support
management strategies and emotional coping.
Psychotherapy Treatment for children with autism spectrum
disorder (ASD) is a vital component that focuses on improving
emotional health, coping skills, social abilities, and self-
understanding, particularly targeting challenges related to
anxiety, emotional regulation, and social interactions.
What is Psychotherapy Treatment?
Psychotherapy, often known as talk therapy, is a structured
psychological intervention delivered by trained professionals to
support mental and emotional well-being. For children with
autism who have sufficient verbal abilities, cognitive-behavioral
therapy (CBT) is one of the most commonly used approaches. The
therapy aims to help kids understand the connection between
their thoughts, feelings, and behaviors, enabling them to develop
healthier ways of responding to stressful or emotionally
challenging situations.
Why Psychotherapy is Important for Children with Autism
Many children with autism experience anxiety, rigidity in
thinking, difficulty managing emotions, and social challenges
that can impact their daily functioning and quality of life.
Psychotherapy helps address these by providing a safe space to
learn self-advocacy and emotional resilience. It empowers
children to better recognize their feelings, develop coping
strategies, and gradually improve social competence. Supporting
8

9. emotional health is crucial because unresolved anxiety or
emotional upset can interfere with learning, communication, and
overall development.
How Psychotherapy is Administered
Psychotherapy is typically delivered in regular sessions lasting
between 30 to 60 minutes, often weekly or biweekly, depending
on the child's needs. It can take place in clinics, schools, or even
at home in some cases. The therapist uses developmentally
appropriate language and tools such as visual aids, role-playing,
and social stories to facilitate learning. For younger or less verbal
children, therapists may adapt techniques using play therapy or
parent-guided interaction strategies.
Cognitive-Behavioral Therapy (CBT) in Autism
CBT is structured around identifying triggers that cause anxiety
or upset, challenging unhelpful thought patterns, and practicing
skills to improve emotional regulation. For example, a child might
learn how to recognize when their thoughts escalate worry and
use breathing exercises or positive self-talk to calm themselves.
The therapist helps the child set realistic goals—for instance,
managing a transition to a new activity or increasing social
interactions—and breaks these goals into manageable steps with
practice and feedback.
Parent Training and Family Involvement
Psychotherapy often incorporates parent training to enable
caregivers to reinforce skills and emotional coping strategies at
home. Parents learn techniques to support their child's
communication and behavior management, handle challenging
behaviors effectively, and respond sensitively to emotional needs.
Family involvement is critical because consistency across
environments enhances skill generalization and emotional
security.
When Psychotherapy is Recommended
Psychotherapy is recommended when children with autism
display co-occurring emotional or behavioral difficulties like
anxiety, depression, mood swings, or difficulty understanding
social situations. Early intervention with psychotherapy can
reduce long-term psychological impact and foster better social
integration and academic success.
Goals of Psychotherapy
9

10. Develop emotional resilience and self-regulation
Reduce anxiety and behavioral outbursts
Enhance social skills and understanding of social cues
Improve self-advocacy and independent coping strategies
Strengthen parent-child communication and relationships
Support adaptive responses to change and novelty
Techniques and Tools Used in Psychotherapy for Autism
Visual supports like social stories and emotion charts
Role-playing to practice social situations
Relaxation and mindfulness exercises to manage stress
Structuring sessions with predictable routines to reduce
anxiety
Behavioral experiments to challenge rigid thought patterns
Reward systems to motivate participation and progress
Outcomes and Effectiveness
When consistently applied, psychotherapy—especially CBT—has
been shown to reduce anxiety symptoms, improve emotional
regulation, and increase adaptive social behaviors in many
children with autism. Progress depends on the child’s age, verbal
abilities, family support, and the quality and intensity of therapy.
2. Behavior Therapy Treatment
Applied Behavior Analysis (ABA) forms the gold standard in
behavioral intervention. ABA uses reinforcement strategies to
encourage positive behaviors and reduce unwanted ones.
Discrete Trial Training (DTT), pivotal response training, and early
intensive behavioral intervention are core techniques. Therapy is
data-driven and highly structured, typically delivered for multiple
hours a week under expert supervision.
What is ABA Therapy?
ABA is based on the theory of operant conditioning, which
explains how behaviors are influenced by their consequences.
Positive behaviors are reinforced to increase their frequency,
while unwanted behaviors are ignored or minimized to reduce
them. The core idea is that behavior can be shaped through
systematic reward and structured teaching.
Why ABA is Used
Children with autism often struggle with communication, social
skills, and adaptive behaviors. ABA therapy is designed to teach
these essential skills by breaking them down into small,
manageable tasks and reinforcing successful attempts.
Additionally, it helps reduce harmful behaviors such as
10

11. aggression, self-injury, or tantrums by understanding the triggers
and consequences of these behaviors.
How ABA is Administered
ABA therapy is typically delivered in a one-on-one setting by
trained therapists, often supervised by Board Certified Behavior
Analysts (BCBAs). Sessions may last several hours each day,
multiple days a week, forming an intensive long-term
intervention. The therapy is highly structured and data-driven:
all behaviors are carefully observed, recorded, and analyzed to
adjust teaching strategies and objectives.
Core Techniques in ABA
Discrete Trial Training (DTT): A structured technique where
skills are taught one step at a time through repeated trials.
The therapist gives a clear instruction or prompt, waits for
the child’s response, and provides immediate reinforcement
or correction. This repetition builds foundational skills like
language, motor abilities, or social behaviors.
Pivotal Response Training (PRT): Targets pivotal areas like
motivation and self-management to increase spontaneous
social behaviors across environments. It is more naturalistic
and child-led compared to DTT.
Early Intensive Behavioral Intervention: A comprehensive
program incorporating DTT and other techniques focused
on early ages to maximize developmental gains.
What Happens During Sessions
During therapy, the therapist sets specific goals tailored to the
child based on thorough assessment. These goals could include
requesting items, maintaining eye contact, imitating actions, or
completing daily living tasks. Reinforcements (such as verbal
praise, tokens, preferred toys, or snacks) are used when the child
demonstrates the targeted behavior. Prompting and shaping
strategies help guide the child toward the desired behavior,
gradually reducing assistance as independence increases.
Challenging behaviors are consistently addressed by identifying
their causes and implementing replacements or coping skills.
When ABA is Used
ABA is typically recommended as early as possible once a
diagnosis is made, as early intervention correlates with better
outcomes. However, it can be adapted and effective at any age or
developmental stage. It is flexible and individualized, making it
applicable across a wide range of abilities and needs.
11

12. Why the Structure and Data are Important
ABA relies on continuous data collection to assess progress and
tweak methods. This systematic evaluation ensures therapy
remains effective and goal-oriented. The therapist notices
patterns in behavior, monitors skill acquisition rates, and
identifies areas needing further support.
Benefits of ABA Therapy
Improves communication and language skills
Enhances social interactions and play skills
Increases independence in daily living activities
Reduces problematic behaviors that interfere with learning
or safety
Builds attention, focus, and task persistence
Parent Involvement and Generalization
Parents are often trained to use ABA techniques at home to
reinforce learning and ensure skills generalize beyond therapy
sessions. Consistency between therapy and home environments
boosts the child’s ability to apply new behaviors in real-life
situations.
3. Occupational Therapy Treatment
Occupational therapy targets improvement in daily living skills,
sensory integration, motor skills, and adaptive functioning.
Therapists assess difficulties with fine motor tasks, self-care, and
sensory sensitivity. Sessions may include play therapy, activities
for hand-eye coordination, and strategies to promote
independence in eating, dressing, and hygiene.
Occupational Therapy Treatment for children with autism
spectrum disorder is a specialized intervention focused on
improving essential life skills, sensory processing, motor abilities,
and adaptive functioning necessary for independent living. It
aims to empower the child to better engage with their
environment and daily routines, fostering autonomy and
enhanced quality of life.
What is Occupational Therapy in Autism?
Occupational therapy (OT) for autism is a client-centered and
individualized approach that addresses the unique developmental
challenges faced by children on the spectrum. Unlike therapies
that focus solely on behavior or communication, OT works
holistically to develop practical competencies such as feeding,
12

13. dressing, grooming, fine and gross motor skills, and sensory
regulation.
Why Occupational Therapy is Important
Many children with autism experience sensory sensitivities, poor
coordination, and difficulty performing everyday tasks that most
children master with ease. These challenges limit their ability to
participate fully at home, school, and community. OT helps
bridge these gaps by targeting specific skill deficits and sensory
integration issues, thus promoting independence, reducing
frustration, and improving social engagement. The therapy
fosters confidence by enabling children to accomplish age-
appropriate activities essential for their self-care and social
inclusion.
How Occupational Therapy is Administered
Occupational therapists begin with a comprehensive assessment
of the child’s current abilities, sensory profile, motor skills, and
daily routines. This involves observation, standardized
assessments, and discussions with parents and caregivers to
understand challenges and goals. Based on this, therapists
develop a customized intervention plan targeting specific areas
for improvement.
Typical Components of Treatment Sessions
Sensory Integration Therapy: Helps children regulate and
respond appropriately to sensory stimuli such as light,
sound, texture, and movement. Therapists use tactile
activities, swinging, weighted tools, and brushing
techniques to calm or stimulate the sensory system.
Fine Motor Skill Development: Activities like stringing
beads, cutting with scissors, drawing, or buttoning clothes
enhance hand-eye coordination, dexterity, and control
necessary for tasks like writing or self-care.
Gross Motor Skill Training: Exercises including balance
beams, jumping, climbing, or ball games are used to
improve strength, coordination, and body awareness.
Daily Living Skills: Therapists teach self-help routines
such as brushing teeth, dressing, eating, and toileting
through systematic, step-by-step instruction, promoting
gradual independence.
Play-Based Therapy: Play is used to motivate participation,
teach social skills, and develop problem-solving abilities in a
natural and enjoyable way.
13

14. When Occupational Therapy is Recommended
OT often begins as soon as delays or difficulties in motor skills,
sensory processing, or adaptive functioning are observed. Early
intervention is especially beneficial, as it maximizes
neuroplasticity when the child’s brain is most adaptable.
However, occupational therapy remains valuable at any age or
developmental level.
Goals of Occupational Therapy
Achieve greater independence in self-care and daily routines
Improve sensory processing to reduce behavioral difficulties
linked to sensory overload or under-responsiveness
Enhance motor skills necessary for school-related activities
Foster social participation through improved
communication and play skills
Support emotional regulation and reduce anxiety through
physical activity and sensory strategies
Techniques and Approaches
Occupational therapists tailor therapy to the child’s interests and
strengths, combining structured exercises with creative play.
They use prompts, modeling, and positive reinforcement while
gradually increasing task complexity. Family involvement is
integral, with therapists coaching parents on how to incorporate
therapeutic activities at home, ensuring consistent practice and
generalization of skills.
Benefits of Occupational Therapy
Increased ability to perform daily tasks like eating, dressing,
and hygiene without assistance
Better sensory tolerance and decreased behavioral reactions
to sensory input
Improved motor coordination for handwriting and sports
participation
Enhanced confidence and motivation through mastery of
practical skills
Greater participation in social, educational, and recreational
activities
4. Physiotherapy Treatment
Physiotherapy for children with autism is a highly individualized
and structured approach designed to address the unique motor,
sensory, and physical challenges these children often face. The
goal is to help improve gross motor skills (like walking, jumping,
14

15. and coordination), independence, and participation in daily
activities.
Purpose and Why Physiotherapy is Used
Children with autism commonly experience difficulties in motor
coordination, muscle tone, balance, and sensory processing.
These challenges can impact their ability to engage in play,
school, sports, social interaction, and self-care. Physiotherapy
focuses on strengthening their body, improving physical
coordination, and supporting overall confidence and skill
development.
How Physiotherapy Works
A physiotherapist begins with a thorough assessment of the
child’s strengths and specific needs. Based on this, a
personalized treatment plan is developed, targeting skill areas
such as balance, posture, mobility, and sensory integration.
Therapy sessions usually use play-based activities and exercises
that are both engaging and developmentally appropriate for the
child’s age and stage.
When Physiotherapy Should Begin
Intervention typically starts as soon as physical or motor delays
are identified, often in early childhood, but it can be beneficial at
any age. Frequency generally ranges from one to three sessions
per week, with regular evaluations and adjustments to the plan
as the child grows and progresses.
What the Treatment Includes
Common physiotherapy techniques for children with autism
include:
Manual therapy (hands-on support and stretching)
Core strengthening and balance exercises
Sensory integration activities
Gait and movement pattern training
Play-based therapy, recreational activities, and sometimes
water therapy or horseback therapy
Treatment can also involve group activities to support both social
and motor skill development. Exercises for home and
generalization into daily routines are frequently provided.
Structure and Patterns of Care
15

16. Assessment is ongoing, with clear goal-setting involving parents,
caregivers, and sometimes teachers. Progress is tracked through
standardized tests, observations, and family feedback. Therapy is
adapted as the child’s needs and abilities change.
Overall Benefits
Physiotherapy fosters independence, enhances social and school
readiness, increases participation in group and physical
activities, and supports healthy growth and emotional regulation.
The approach is holistic, integrating movement-based strategies
to nurture both physical and broader developmental growth in
children with autism.
5. Speech Therapy Treatment
Speech-language therapy is crucial for children with speech and
language delays. Therapy involves developing expressive and
receptive language, social communication skills, and nonverbal
communication. Techniques include augmentative and
alternative communication devices (AAC), picture exchange
systems, and articulation exercises.
Speech-language therapy for children with autism is a carefully
structured intervention that targets a child's unique
communication challenges, aiming to build both spoken and
nonverbal abilities through systematic, individualized
approaches.
Why Speech Therapy Is Used
Children with autism often have delays in speech,
understanding, and social communication, making it hard for
them to express needs, follow instructions, or connect with
others. The purpose of therapy is to equip these children with
tools and strategies that help them communicate more effectively,
fostering confidence, independence, and social integration.
How It Is Delivered
Therapy begins with a detailed assessment to identify the child's
strengths and communication barriers. Based on this, therapists
design a plan using proven methods and techniques:
16

17. Expressive language: Building vocabulary and learning to
use words, sentences, or devices to communicate wants and
ideas.
Receptive language: Developing the ability to understand
instructions, questions, and social cues.
Social communication: Practicing turn-taking, greetings,
and conversational skills, often through play activities to
encourage natural interactions.
Nonverbal communication: Enhancing understanding and
use of gestures, facial expressions, and body language.
When Therapy Is Started
Speech-language therapy should begin as soon as any language,
speech, or social communication delays are recognized—often
during early childhood, but it remains beneficial at any age. Early
intervention typically leads to better long-term outcomes, but
regular re-assessment ensures the approach matches the child's
evolving needs.
What Techniques Are Used
Therapists use a mix of approaches, selected based on individual
strengths and challenges:
Augmentative and Alternative Communication
(AAC): Includes devices, apps, sign language, and symbols,
enabling nonverbal children to express themselves with
technology or pictures.
Picture Exchange Communication System (PECS):  Children
use pictures and cards to communicate choices, feelings,
and requests.
Articulation Exercises: Target clear speech production
through sound practice, repetition, and muscle training.
Visual Supports: Using images, storyboards, or sequences
to help link words to objects, actions, and routines.
Prompting and Modeling: Therapists and caregivers model
speech and gestures, guide imitation, and gradually
encourage independent responses.
Functional Communication Training: Direct practice of
phrases and actions needed for daily routines (e.g., asking
for food, indicating discomfort).
Play-Based Learning: Incorporating games, role-play, and
interactive activities to make learning social communication
engaging and effective.
Structure and Patterns of Therapy
17

18. Sessions are typically scheduled 1–3 times per week, depending
on the child's needs and progress. Therapy can take place in
clinics, homes, or schools and often involves parent or caregiver
training so interventions continue outside sessions. Progress is
tracked using standardized assessments, observations, and real-
world feedback.
6. Psychology Treatment
Clinical psychologists help children develop coping strategies,
manage emotional problems, and improve social understanding.
Social skills training, emotion recognition activities, and stress
management techniques are frequently used. Psychological
assessment underpins intervention planning and progress
tracking.
7. General Medicine Doctor Treatment
Pediatricians monitor overall health, coordinate multidisciplinary
care, and evaluate for associated medical conditions. They ensure
children receive early intervention, manage sleep, digestion, and
nutrition issues, and prescribe medications when necessary.
A General Medicine Doctor (typically a pediatrician or family
physician) plays a central, structured role in the treatment of
children with autism, focusing on early identification, ongoing
health management, and coordination of care within a
multidisciplinary team.
Why General Medicine Doctor Treatment Is Used
The goal of the general medicine doctor is to monitor the overall
health and development of the child, identify symptoms of autism
early, rule out other medical conditions, initiate referrals to
specialists, and oversee the implementation and integration of
various treatments. Their involvement ensures the child receives
comprehensive care that addresses both autism-specific needs
and general medical concerns.
How Treatment Is Delivered
The process typically begins with screening and
developmental assessments if delays or atypical behaviors
are noticed. The doctor gathers medical history, performs
physical exams, and uses validated screening tools to
identify if further autism evaluation is needed.
After a formal diagnosis (often made by a specialist), the
general medicine doctor acts as a primary coordinator,
organizing referrals to services such as speech therapy,
18

19. occupational therapy, behavioral therapy, and
physiotherapy.
Management continues with regular monitoring, including
checking growth, nutrition, sleep, gastrointestinal health,
comorbid conditions (such as ADHD or anxiety), and
monitoring medication effects and side effects if prescribed.
Doctors educate and counsel families about autism,
treatment options, safety (like wandering or self-injury
risks), and connect them with community resources, early
intervention programs, and support groups.
They maintain communication with other providers
(therapists, psychiatrists, educators) and help navigate
complex care plans and transitions as the child grows.
When Treatment Begins
Involvement starts as soon as developmental delays are
suspected—often during routine well-child visits in infancy or
toddlerhood. The general medicine doctor remains involved
throughout childhood, adolescence, and even into adulthood,
adjusting the care plan according to age and changing needs.
What Treatments Are Coordinated/Managed
Behavioral interventions (e.g., Applied Behavior Analysis)
Speech and language therapy
Occupational therapy
Physiotherapy and motor skills training
Medication management for associated symptoms (like
severe irritability, anxiety, or hyperactivity)
Medical care for sleep, digestive, or neurological issues
Preventive health measures (immunizations, screenings,
guidance on healthy lifestyle)
Structure and Patterns of Care
Assessment: Comprehensive history, exam, and
developmental screening
Diagnosis: Collaboration with specialists for autism
confirmation
Referral: Connecting family to therapists/educational
programs
Coordination: Overseeing and integrating care from multiple
providers
19

20. Monitoring: Ongoing follow-up with regular check-ups,
reassessments, and updating care as needed
8. Counseling
Family counseling is indispensable, providing emotional support,
resources, and practical guidance. Parents and siblings can
explore the impact of autism on family dynamics, receive
education about the disorder, and develop adaptive
communication strategies. Psychoeducation and parent support
groups are highly beneficial for well-being.
Family counseling for autism is a structured and essential
treatment designed to support the entire family unit emotionally
and practically as they navigate the challenges of raising a child
with autism.
Why Family Counseling Is Important
Autism affects not only the child but also parents, siblings, and
extended family. Families often experience stress, emotional
strain, communication difficulties, and changes in dynamics.
Counseling helps reduce stress, promotes mental well-being, and
strengthens family bonds. It offers education about autism,
helping families better understand the condition and how to
support their loved one effectively.
How Family Counseling Works
Counseling involves regular sessions guided by a therapist
trained in autism and family dynamics.
The therapist conducts assessments to identify the family's
unique challenges and strengths.
Sessions provide a safe space to express feelings,
frustrations, and hopes.
Families learn adaptive communication skills tailored to
their child’s needs, such as using visual aids or simplifying
language.
Psychoeducation is provided to teach about autism
characteristics, behaviors, and effective strategies to
manage daily challenges.
Techniques like cognitive-behavioral therapy (CBT) or
applied behavior analysis (ABA) may be incorporated to help
family members cope with stress and improve interactions.
When Family Counseling Is Engaged
Counseling can begin as soon as autism is diagnosed or even
when families suspect developmental differences. It continues
20

21. throughout the child’s development, adapting as new challenges
emerge. Ongoing support is vital for managing evolving family
dynamics and demands.
What Family Counseling Includes
Emotional support for parents, siblings, and caregivers
Education on autism and its impact on behavior and family
life
Developing communication strategies within the family
Coping strategies for managing stress, frustration, and
conflict
Facilitating sibling understanding and empathy
Encouraging positive family interactions and routines
Access to parent support groups and community resources
Structure and Patterns in Counseling
Initial assessment and goal setting tailored to family needs
Scheduled weekly or biweekly sessions, either individually
or with multiple family members
Collaborative approach involving all key family members
Progress monitoring and adjusting goals as needed
Integration of family education, skills training, and
emotional support throughout therapy
Family counseling strengthens the family as a whole, improving
communication, emotional resilience, and understanding,
thereby creating a supportive environment that benefits both the
child with autism and their loved ones.
Do’s and Don’ts with Children
Do’s:
Offer consistent routines and structure.
Use clear, simple language and instructions.
Allow time for processing information.
Encourage developmentally appropriate independence.
Use positive reinforcement for desirable behaviors.
Don’ts:
Avoid overwhelming sensory environments unless well
tolerated.
Don’t insist on eye contact or social interaction beyond the
child’s comfort level.
Avoid sudden changes in routine.
Refrain from punitive approaches to repetitive or unusual
behaviors.
21

22. Do not compare progress with neurotypical peers; focus on
individual growth.
Trainings and Home Programs
Parents are encouraged to engage in home therapy programs,
guided by professionals. These may include implementing ABA
strategies, practicing communication drills, facilitating play with
peers, and adapting the home environment to reduce sensory
overload. Training modules for parents often cover behavior
management, language enrichment, and promoting daily living
skills.
"Trainings and Home Programs" for children with autism:
Why: Home programs empower parents to actively
participate in their child’s therapy, ensuring consistent
practice and reinforcing skills learned during professional
sessions. Engaging parents enhances progress, supports
generalization of skills, and adapts interventions to the
child’s natural environment.
What: Home therapy programs typically include:
Implementing Applied Behavior Analysis (ABA)
strategies to encourage positive behavior and skill
acquisition.
Practicing communication drills to improve expressive
and receptive language.
Facilitating structured play with peers to build social
and interaction skills.
Adapting the home environment to reduce sensory
overload, such as minimizing noise, clutter, or bright
lights.
Training modules that teach parents behavior
management techniques, language enrichment
activities, and ways to promote daily living skills like
dressing, eating, and hygiene.
How: Professionals assess the child and family needs, then
design tailored training sessions that educate parents on
specific methods. Training often involves:
Demonstrations and coaching through live or video
sessions.
Providing written guides, schedules, and visual
supports to organize daily routines.
Ongoing feedback and adjustment of strategies based
on the child’s progress.
22

23. Encouraging consistent, predictable routines using
visual schedules and structured activities.
When: Home programs start as early as possible after
diagnosis or when therapy begins, continuing alongside
formal sessions. They are ongoing, evolving with the child’s
development and family circumstances to maximize
effectiveness.
Structure and Pattern:
Initial training introduces core techniques and daily
routine integration.
Parents practice techniques with supervision and seek
guidance regularly.
Progress is monitored through observations and
communication between therapists and families.
Programs are adjusted periodically to address new
goals or challenges.
Emphasis is placed on creating a predictable,
supportive home environment that encourages
learning and reduces anxiety.
This approach ensures therapy is continuous, naturalistic, and
integrated into everyday life, empowering families to be effective
collaborators in their child’s developmental journey.
Government Help, Schemes, and Benefits (India)
The Government of India provides multiple supports for children
with autism and their families. These include:
Rights under the Rights of Persons with Disabilities Act,
2016, granting educational reliefs, job reservations, and
protection from discrimination.
National Trust schemes such as NIRAMAYA (health
insurance), DISHA (early intervention centers), VIKAAS (day
care schemes), and SAMARTH (residential care).
Provision of disability certificates for access to supportive
devices, travel concessions, and educational
accommodations.
Inclusion of autism under the Disability category in the
RPwD Act, ensuring tax benefits and mandated inclusion in
schools.
Financial support for therapies, special education, and
counseling via government and NGO-run institutions.
23

24. Free or subsidized therapies at government hospitals,
special schools, and early intervention centers.
District Disability Rehabilitation Centres offer assessment,
certification, counseling, and rehabilitation services.
Rights and Legal Framework
Rights of Persons with Disabilities (RPwD) Act, 2016:
oRecognizes autism as a disability under its provisions.
oEnsures rights related to education, employment (job
reservations), and protection against discrimination.
oMandates inclusive education and accessibility in
schools.
oAllows persons with disabilities to receive benefits like
tax exemptions and special accommodations.
The National Trust Act, 1999:
oAn autonomous body under the Ministry of Social
Justice and Empowerment dedicated to persons with
autism, cerebral palsy, mental retardation, and
multiple disabilities.
oProvides welfare programs focusing on care, education,
and rehabilitation.
Key Government Schemes and Programs
NIRAMAYA Health Insurance Scheme :
oOffers affordable health insurance coverage for persons
with autism and other disabilities.
oCovers medical expenses, therapies, hospitalization,
and surgeries.
oDesigned to reduce the financial burden on families.
DISHA Scheme:
oEarly intervention centers for children aged 0-10 years.
oProvides therapies, training, and family support.
oIncludes daycare facilities offering age-appropriate
activities for several hours daily.
oFocuses on school readiness and developmental
progress.
VIKAAS Scheme:
oDaycare and support programs for children above 10
years.
oHelps in assessing school suitability and provides
ongoing care and development support.
oCaters to children with autism and other multiple
disabilities.
24

25. SAMARTH Scheme :
oResidential care and respite services for persons with
autism, especially from lower-income groups.
oProvides safe, supportive living environments to offer
relief for families.
oOffers rehabilitation activities focused on skill
development and social integration.
GHARAUNDA (Group Home for Adults) :
oProvides secure housing and lifelong care for adults
with autism.
oIncludes medical care, daily living support, and
vocational training.
oSupports independent living and community
integration.
Disability Certification and Benefits
Provision of Disability Certificates enables access to
various government benefits like travel concessions,
education accommodations, and assistive devices.
Autism inclusion under disability laws ensures eligibility for
tax benefits and rights in employment and education
sectors.
Support Services and Facilities
District Disability Rehabilitation Centres (DDRCs):
oOffer assessment, certification, counseling, and
rehabilitation services.
oServe as accessible local resource centers linking
families to government programs.
Block Resource Centres (BRCs):
oPart of the Samagra Shiksha scheme, these centers
provide therapy-based interventions in schools.
oInclude trained resource persons, special educators,
and therapists working with children, parents, and
teachers.
oOrganize screening camps, parent counseling, training,
and provision of assistive devices.
Financial and Therapy Supports
Government hospitals, special schools, and early
intervention centers offer free or subsidized therapies,
including speech, occupational, and physiotherapy services.
Financial assistance schemes help families bear the cost of
therapies, counseling, and special education.
25

26. Many NGO and government collaborations enhance
accessibility and support services.
Asperger’s Syndrome
Asperger’s Syndrome
Definition / Classification
Asperger’s Syndrome was originally described as a form of
autism-like symptoms (social interaction difficulties,
communication issues, restricted interests, repetitive
behaviors), but without significant delays in language
development or intellectual functioning.
In modern diagnostic systems (DSM-5, ICD-11), the term
“Asperger’s syndrome” is no longer used as a separate
diagnosis. Instead, it is considered part of Autism
Spectrum Disorder (ASD), Level 1, meaning the individual
requires some support but does not have severe
impairments.
DSM-5 classifies ASD based on the level of support needed
(Level 1, 2, or 3). People previously diagnosed with
Asperger's typically fall under Level 1 ASD.
Etiology / Pathology / Risk Factors
The exact cause is not fully understood. Asperger’s is
believed to arise from a combination of genetic,
neurobiological, and environmental factors.
Genetic factors: Strong familial patterns suggest genetics
play a role, but no single gene has been identified as a
cause.
Brain structure and function differences have been
observed, particularly in areas related to social cognition
and communication.
Environmental risk factors may include advanced parental
age, prenatal infections, exposure to toxins, or perinatal
complications, but these links are not definitively
established.
Clinical Features, Signs & Symptoms / Characteristics
The features can vary widely in severity and presentation, but
common characteristics include:
Social Interaction Difficulties
26

27. oPoor eye contact, limited non-verbal communication,
and difficulty reading emotions or social cues.
oTrouble understanding sarcasm, metaphor, or indirect
communication.
oDifficulty starting or maintaining reciprocal
conversations; often talks about their narrow interests.
Communication Features
oNo significant delay in language development;
language skills may be above average.
oDifficulty with pragmatic communication, such as
turn-taking or staying on topic.
oSpeech may sound formal, pedantic, or monotonous.
Restricted Interests and Rigidity
oDeep, intense focus on specific topics or objects.
oInsistence on sameness, routines, and distress with
changes in routine.
Sensory Issues and Other Associated Features
oSensory sensitivities, such as heightened or
diminished sensitivity to sounds, textures, lights, and
smells.
oDifficulty with motor coordination; clumsiness or
delays in fine and gross motor skills.
Cognitive Profile
oIntelligence is typically average or above average,
without intellectual disabilities.
oStrong memory and attention to detail, but challenges
with abstract thinking or generalization.
Comorbidities
oCommon comorbid conditions include anxiety,
depression, ADHD, OCD, or tic disorders.
Diagnostic / Assessment Methods
Diagnostic Criteria:
oDSM-5 requires the presence of social communication
difficulties and restricted/repetitive behaviors.
oDiagnosis of Level 1 ASD does not involve significant
delays in language or intellectual development.
Assessment Team:
oA multidisciplinary team, including pediatricians,
psychiatrists, psychologists, speech therapists, and
27

28. occupational therapists, typically conducts the
evaluation.
Standardized Assessment Tools:
oADOS-2: Direct assessment of communication, social
interaction, and play.
oADI-R: Parent/caregiver interview to assess social
interaction, communication, and behavior.
oSRS-2: Assesses the severity of social impairments
through parent/teacher/observer report.
oCARS: Distinguishes ASD from other developmental
disorders.
oSCQ: A screening tool to help decide whether full
diagnostic assessment is needed.
Other Evaluations:
oCognitive and IQ tests to rule out intellectual
disability.
oLanguage assessments (receptive, expressive, and
pragmatic).
oSensory processing and motor skills evaluations.
Differential Diagnosis
Other forms of ASD (e.g., classic autism).
Social (Pragmatic) Communication Disorder (when
restrictive/repetitive behaviors are absent).
ADHD, anxiety, or obsessive-compulsive disorders.
Learning disabilities, intellectual disability, or language
impairments.
Treatment & Management
Early Intervention: Key for better outcomes; therapy and
support should begin as early as possible.
Behavioral Therapies:
oApplied Behavior Analysis (ABA) to reinforce desired
behaviors and reduce undesired ones.
oCognitive Behavioral Therapy (CBT) for managing
anxiety, depression, and rigid thinking patterns.
Speech and Language Therapy :
oFocuses on improving communication skills, including
social communication and pragmatics.
oTherapy may also address voice modulation, prosody,
and clarity.
28

29. Occupational Therapy:
oHelps with sensory integration, fine and gross motor
skills, and adaptive daily living skills.
Social Skills Training:
oStructured social skills training can help individuals
understand and navigate social interactions.
Physical and Motor Skills Therapy:
oTo address motor coordination difficulties.
Medication:
oThere is no medication for the core symptoms of ASD;
however, medications may be used for co-occurring
symptoms such as anxiety, depression, ADHD, or
irritability.
Educational Supports:
oSpecial education services or individualized education
plans (IEPs) are often necessary.
Assessments / Scales / Screening Tools in India & Globally
INDT-ASD (Indian scale for children aged 2-9): A diagnostic
tool specifically designed for the Indian context.
ISAA (India Scale for Assessment of Autism): Assesses
severity of autism symptoms in children above 6 years.
ADOS-2: Direct assessment for diagnosing ASD through
structured play and social interaction.
ADI-R: Parent interview tool to assess social communication
and restricted behaviors.
SCQ: Screening tool for social communication issues.
SRS-2: Measures the severity of social impairment.
CARS: Used to rate autism symptoms and distinguish ASD
from other developmental disorders.
Differential / Diagnostic Process & Examination Methods
Physical Examination: To rule out any physical causes for
the symptoms, such as hearing or vision impairments.
Genetic Testing: In some cases, genetic testing may be
done to rule out other conditions such as Fragile X
Syndrome.
Psychological Evaluation: To assess mood, behavior, and
cognitive functioning.
Treatment Plan / Procedure
Initial Phase (0-3 months):
oDiagnosis and initial assessments.
29

30. oStart therapies like speech/language therapy,
occupational therapy, and social skills training.
oParent education and training.
Mid-Term Phase (3-12 months) :
oContinue therapy with a focus on communication,
social skills, and flexibility.
oEducational support (IEP development) for school
integration.
Long-Term Phase (1 year and beyond) :
oOngoing support for social integration, emotional well-
being, and academic success.
oVocational training and life skills development.
Do’s & Don’ts for Parents, Teachers, Caregivers
Do’s:
Early diagnosis and intervention are key to success.
Use visual supports to provide structure and predictability.
Encourage social interactions and model appropriate
behaviors.
Focus on the child's strengths and interests to encourage
learning.
Train caregivers and educators in strategies to support the
child.
Focus on mental health and self-esteem.
Don’ts:
Avoid shaming or punishing the child for social difficulties.
Don’t try to force the child into social situations that cause
them significant distress.
Don’t dismiss the child’s interests; instead, use them as
tools for learning and growth.
Avoid sensory overload by being mindful of the child’s
sensitivities.
Government Supports, Schemes, Benefits in India
Persons with Disabilities (PWD) Act: Recognizes autism as
a disability and entitles individuals to certain rights and
benefits.
Tax Benefits: Tax deductions under Section 80U for
individuals with disabilities, and Section 80DD for
dependent care expenses.
Health Schemes: Niramaya health insurance covers
individuals with autism and related conditions.
30

31. Rehabilitation and Education: Various government
schemes like Samarth and GHARAUNDA provide support
for education, vocational training, and residential care for
individuals with autism.
Treatment Plan Example
0-3 Months:
oDiagnostic assessments, parent training, initiation of
therapies.
oStart structured social skills and communication
therapy.
3-12 Months:
oContinue therapy, school integration, and IEP
development.
oFocus on improving adaptive behavior and emotional
regulation.
Ongoing:
oProvide vocational training and life skills education.
oMonitor emotional and social well-being as the child
grows older.
Do's & Don’ts Specific with Asperger’s / Level 1 ASD
Do:
Respect the child's interests and use them to connect and
teach.
Use visual cues to provide structure and predictability in
routines.
Be patient with communication difficulties and social
interactions.
Don’t:
Force social interactions that the child finds overwhelming.
Criticize or punish behaviors that stem from the condition.
Expect the child to automatically adapt to new routines
or changes.
Childhood Disintegrative Disorder (CDD)
DEFINITION:
31

32. Childhood Disintegrative Disorder (CDD), also known as Heller’s
syndrome, is a rare neurodevelopmental disorder first described
by Theodor Heller in 1908. It typically affects children between
two and ten years of age who have had at least two years of
normal development. CDD is characterized by a dramatic and
relatively rapid regression in multiple domains such as language,
social functioning, motor skills, and self-care abilities. With the
onset, children lose previously acquired skills and often become
severely limited in independence and interaction, sometimes
exhibiting behaviors and social patterns similar to classic autism.
Most literature regards CDD as part of the broader category of
pervasive developmental disorders.
Etiology :
Etiology of CDD remains uncertain. No definitive medical or
genetic cause has been found, though neurobiological factors are
implicated. Abnormal EEG readings are present in about half of
cases, and some children may experience seizures, pointing to
brain-based involvement. Some researchers have investigated
environmental, immunological, or metabolic triggers, but none
have consistently explained all cases. The disorder may be
sporadic, with links to neurological dysfunction, and is eight
times more common in boys than girls.
Pathology
Pathology centers on sudden neurodevelopmental regression
following a period of typical growth, most often between ages
three and four, continuing up to age ten in rare instances. Brain
imaging may occasionally reveal atrophy or abnormalities,
particularly in cases with progressive neurological degeneration,
but most children do not show classic lesions or structural
findings.
Signs and symptoms:
Signs and symptoms include abrupt loss of expressive and
receptive language, decline in social skills and adaptive
functioning, impaired motor coordination, and incontinence after
previously establishing bladder and bowel control. Behavioral
changes such as withdrawal, irritability, sleep disturbances, and
stereotypic movements are common. Cognitive development often
slows or reverses. Hallmark features are the loss of skills rather
than simply delayed acquisition.
Clinical features:
32

33. Clinical features vary but typically encompass severe impairment
in communication, marked reduction in social reciprocity and
play, loss of interest in peers and activities, sudden onset of
repetitive or stereotypic behaviors, and regression in self-care and
independence. The profound impact on family and child
functioning is noted by many clinicians.
Types and classifications::
Types and classifications: CDD was once classified as a separate
entity under DSM-IV and ICD-10 (“299.10”), but in DSM-5, it is
subsumed under Autism Spectrum Disorder due to overlapping
features. It is differentiated from Rett syndrome and other
regressive conditions mostly by the timing and completeness of
skill loss. No subtypes are universally accepted, but cases are
often differentiated by severity and age of onset.
Examination:
Testing methods and examination procedures include
comprehensive developmental histories, neurological
examination, EEG, metabolic panels, genetic testing (to rule out
similar conditions), audiology and speech assessment, and
psychiatric evaluation. Differential diagnosis may consider
autism, Rett syndrome, neurodegenerative metabolic disorders,
and psychosocial regression due to abuse or trauma.
Assessment:
Assessment is both clinical and standardized. Tools include the
Autism Diagnostic Observation Schedule (ADOS), Childhood
Autism Rating Scale (CARS), Vineland Adaptive Behavior Scales,
and the DSM criteria checklist. Developmental regression and the
pattern of loss across domains are central to diagnosis. The
procedure for use typically involves structured interviews with
caregivers, direct clinical observation, and comparison to
developmental milestones over time.
Scales and imaging: Standard behavioral and autism spectrum
scales are used for severity and progress monitoring. Radiological
investigations like MRI and CT may be performed to rule out
organic brain diseases, but usually findings are non-specific.
EEGs help identify seizure activity and brain function.
Investigations also span genetic, metabolic, infectious,
immunological, and toxicological testing as appropriate, mainly to
differentiate CDD from other regressive or degenerative
33

34. conditions. Serial assessments are often required to document
the progression and stabilize diagnosis.
Differential diagnosis includes autism spectrum disorder, Rett
syndrome, acquired childhood aphasia, leukodystrophies,
mitochondrial disorders, and psychosocial childhood regression.
Thorough medical, developmental, and psychiatric evaluation is
needed.
Treatment:
Treatment is multidisciplinary and includes both medical and
non-medical interventions. No cure exists, so management
focuses on supportive care, regaining lost skills, and maximizing
quality of life. Drugs (such as antipsychotics, mood stabilizers,
and anti-epileptics) may help control seizures, severe behavioral
issues, and comorbid psychiatric symptoms. Medications are
tailored to each child's needs, and regular follow-up is necessary
to adjust doses and monitor side effects.
Surgical treatment has no established role except for addressing
specific comorbidities, like severe epilepsy requiring surgical
intervention. Most management is non-surgical.
Psychotherapy focuses on helping the child process changes
and cope with regression. Cognitive-behavioral approaches are
often adapted to the child’s level of understanding and
functioning. Families may also benefit from psychological support
to manage stress, grief, and behavioral challenges.
Psychotherapy for Childhood Disintegrative Disorder (CDD) is a
structured, comprehensive intervention aimed at helping the
child cope with the profound regression they experience by
focusing on emotional processing, coping skills, and behavioral
management.
How Psychotherapy is Implemented
The process typically begins with assessment of the child’s
cognitive and emotional functioning to tailor therapies to their
level of understanding and current abilities. Cognitive-behavioral
therapy (CBT) techniques are adapted to the child’s
developmental capacity, often using simplified and concrete
approaches. The therapy involves structured sessions focusing
on reducing anxiety, managing mood swings, addressing
behavioral disturbances, and helping the child understand and
adapt to their losses.
When Psychotherapy is Applied
34

35. Psychotherapy is generally introduced once a diagnosis is
confirmed and after initial medical stabilization (e.g., controlling
seizures if present). Early introduction, often simultaneously with
other therapies like behavioral and speech therapies, yields the
best outcomes. Therapy continues regularly, varying from weekly
to multiple times per week, depending on the child's needs and
response.
What Psychotherapy Entails
Key components include:
Emotional support to help the child process the significant
changes and losses they have undergone.
Behavioral interventions to reduce maladaptive behaviors
like aggression or withdrawal.
Teaching coping skills to manage frustration and anxiety
resulting from impaired abilities.
Use of reward systems to reinforce positive behaviors and
skill use.
Engaging the child in activities that foster emotional
expression, such as play therapy adapted to developmental
level.
Why Psychotherapy is Important
The regression in skills typical of CDD can cause confusion, fear,
and emotional distress, making effective coping mechanisms
critical to improving quality of life. Psychotherapy provides a safe,
supportive environment for the child to express these emotions
and learn new ways to navigate their environment despite their
challenges.
Role of Family in Psychotherapy
Parental and family counseling is essential to empower caregivers
with strategies to support the child's therapy at home, reduce
familial stress, and improve overall family dynamics. Caregivers
learn behavioral management strategies, communication
techniques, and are guided in maintaining structured routines.
Overview of the Psychotherapy Pattern for CDD
Assessment phase: Identifying cognitive, emotional, and
behavioral needs.
Goal setting: Individualized aims focusing on emotional
regulation and behavioral improvement.
Intervention phase: Regular therapy sessions using adapted
CBT, play therapy, and behavior management.
35

36. Reinforcement: Involving family to support and generalize
learned skills at home.
Monitoring: Ongoing evaluation of progress and adapting
techniques as needed.
Psychotherapy for CDD is embedded within a multidisciplinary
treatment plan, complementing occupational, speech, and
behavioral therapies to help the child and family regain
functionality, improve emotional well-being, and enhance
interaction skills. This structured, supportive approach plays a
critical role in managing the complex emotional and behavioral
impacts of CDD regression in a way that respects the individual’s
developmental stage and abilities.
Behavior therapy, particularly Applied Behavior Analysis (ABA),
is central to CDD management, targeting skill redevelopment,
reducing maladaptive behaviors, and increasing adaptive
functioning. Structured programs with goals adjusted to the
child’s needs are most effective.
Applied Behavior Analysis (ABA) is a structured, research-based
behavior therapy widely recognized as a cornerstone in treating
Childhood Disintegrative Disorder (CDD). ABA is designed to
improve quality of life by systematically teaching new skills—
such as communication, social interaction, and self-care—while
reducing problematic or maladaptive behaviors through
consistent reinforcement strategies.
How ABA Therapy is Applied
ABA therapy begins with a comprehensive assessment by a
Board Certified Behavior Analyst (BCBA) to identify the child’s
specific strengths, weaknesses, and behavioral challenges. Using
this information, an individualized treatment plan is created with
clear, measurable goals targeting skill redevelopment and
behavioral modification. The therapy is highly structured, often
involving one-on-one sessions with a trained therapist, focusing
on specific tasks broken down into smaller, achievable steps.
When ABA Therapy is Used
ABA is typically initiated soon after diagnosis to intervene early in
the regression process. It is delivered intensively, often 20 or
more hours per week, especially in early childhood, to maximize
neuroplasticity and learning potential. Therapy can be adjusted
in intensity and focus based on the child's progress and
developmental needs over time.
What ABA Therapy Involves
36

37. Skill focus: Teaching adaptive skills such as language,
social communication, play, daily living activities, and fine
and gross motor skills.
Behavior management: Identifying challenging behaviors
(e.g., tantrums, aggression, self-injury) and using positive
reinforcement to reduce them.
Reinforcement: Rewarding desired behaviors immediately to
increase their frequency using praise, tokens, or preferred
activities.
Prompting and fading: Assisting the child with cues initially
and gradually reducing help as independence grows.
Data-driven: Therapy sessions involve continuous
monitoring of the child’s responses, adjusting techniques to
optimize learning and generalization.
Family involvement: Training parents and caregivers to
implement ABA principles at home to reinforce progress and
consistency.
Why ABA is Effective for CDD
ABA’s emphasis on repetition, consistency, and positive
reinforcement harnesses principles of operant conditioning and
neuroplasticity. This helps reverse skill loss by rebuilding
foundational abilities and promoting functional independence.
Structured goals allow therapists to systematically reduce
problematic behaviors which can interfere with learning, while
encouraging positive social and adaptive actions.
The Structured Pattern of ABA Therapy
1.Assessment phase: Gather baseline data on skills and
behaviors.
2.Goal setting: Define specific, realistic behaviors and skills to
develop.
3.Implementation: Provide scheduled one-on-one therapy
focusing on discrete trials, natural environment teaching, or
play-based tasks.
4.Data collection and analysis: Record response patterns and
progress.
5.Adjustments: Modify program goals or methods based on
data and child’s development.
6.Generalization: Extend learned skills to new contexts,
settings, and people.
7.Maintenance: Support long-term retention and application
of skills.
37

38. ABA therapy’s structured, individualized, and evidence-backed
approach makes it the most effective behavioral intervention
available for children with CDD, helping them regain abilities,
increase independence, and improve overall quality of life. The
intensity and duration of therapy are adapted to the child's
response, with early and consistent intervention offering the best
outcomes.
Occupational therapy aims to strengthen motor deficits,
improve self-care, adapt the environment for safety and
autonomy, and maintain as much independence as possible. Fine
motor, sensory integration, and daily living skills are emphasized.
Occupational therapy (OT) for pediatric brain injury, specifically
for a child like D. Moksharama with perinatal hypoxic-ischemic
encephalopathy and periventricular leukomalacia, is a
structured, goal-directed process designed to enhance motor
function, sensory integration, and daily living skills to maximize
independence and safety at home and in the community. Here's a
detailed overview explaining the how, when, what, and why of OT
treatment for such a child:
Why Occupational Therapy?
To strengthen motor deficits especially fine motor skills
affected by brain injury
To improve sensory integration, helping the child process
sensory information from the environment for better motor
planning and coordination
To enhance self-care and daily living skills, fostering
independence in activities like feeding, dressing, and
hygiene
To adapt the child's environment to ensure safety and
promote autonomy despite motor or cognitive challenges
To maintain and improve functional independence as
much as possible, improving quality of life for child and
family
What Occupational Therapy Includes
Motor skill training: Exercises targeting fine motor control
(grasp, release, hand-eye coordination), upper limb
strength, and bilateral hand use (e.g., Constraint-Induced
Movement Therapy)
38

39. Sensory integration activities: Activities involving tactile,
vestibular, proprioceptive stimuli to improve the child’s
sensory processing and motor responses
Daily living skills: Teaching and practicing age-appropriate
self-care like feeding, dressing, grooming adapted to the
child’s abilities
Environmental modification: Recommendations to adapt
home or preschool environments for safety and accessibility
(e.g., adaptive seating, assistive devices)
Caregiver education: Training parents in handling,
positioning, and carrying out home exercises and routines.
How OT Is Delivered
Assessment: Initial detailed evaluation using standardized
tools (e.g., Pediatric Evaluation of Disability Inventory,
Sensory Profile, GMFM) and clinical observation to identify
specific motor, sensory, and adaptive challenges
Individualized treatment plan: Based on assessment
findings, treatment goals are set collaboratively with family
prioritizing meaningful daily activities
Therapy sessions: Typically 2-3 times a week, involving
child-centered play-based activities that engage motivation
and encourage active participation
Home program: Structured exercises and activities parents
can do daily with the child to reinforce therapy gains
Regular reassessment: Progress is monitored every 4-6
weeks to adjust goals and interventions
When OT Is Initiated and Progressed
Ideally started as soon as medically stable, continuing
through early childhood, coinciding with critical
developmental milestones
Early initiation promotes neuroplasticity, helping the brain
reorganize and regain function
As the child develops, therapy shifts focus from
fundamental motor skills to more complex functional tasks
relevant to age (e.g., from grasping to dressing skills)
Intensity and type of intervention adapt according to
progress and emerging needs
Speech therapy addresses expressive and receptive language
regression. Therapy focuses on regaining language and
39

40. communication skills, with alternatives like sign language,
picture exchange communication systems (PECS), and assistive
technology employed as required.
Speech therapy for children with expressive and receptive
language regression is a structured, individualized process that
follows clear steps. The goal is to rebuild lost communication
abilities while giving the child alternative ways to express needs
and emotions. Below is a detailed, structured, and patternized
overview.
Why Speech Therapy is Done
Regression in expressive language (speaking, naming,
expressing needs) and receptive language (understanding
instructions, words, stories) can affect the child’s ability to
communicate, learn, and socialize.
Without intervention, children may become frustrated,
exhibit behavioral issues, or feel isolated.
Therapy is aimed at restoring lost skills, supporting current
abilities, and introducing compensatory communication
strategies.
When Therapy is Provided
Diagnosis stage: When parents, teachers, or pediatricians
notice regression (sudden loss of spoken words, difficulty
following commands, increased silence).
Early intervention: Speech therapy starts as soon as
regression is identified to improve outcomes (the brain is
more adaptable at younger ages).
Ongoing sessions: Typically 2–5 times weekly, depending on
the severity of regression, with home practice in between.
What Therapy Involves
Speech therapy is not a single activity but a structured program
that evolves based on the child’s progress.
Step 1: Assessment
Speech-language pathologist (SLP) evaluates:
Level of receptive skills (understanding instructions,
identifying objects).
Level of expressive skills (forming words, sentences,
gestures).
Social communication (eye contact, turn-taking).
Regression triggers (neurological, developmental,
trauma, autism, etc.).
40

41. Step 2: Goal Setting
Short-term goals: Regain ability to understand basic
commands, say single words, or use alternative
communication.
Long-term goals: Build functional communication, age-
appropriate vocabulary, and social use of language.
Step 3: Intervention Methods
Therapy combines direct and alternative strategies:
Rebuilding Receptive Language
Using simple, repetitive commands (“give me,” “come
here”).
Pairing words with visuals (flashcards, gestures).
Gradually increasing complexity (from 1-step to multi-
step instructions).
Rebuilding Expressive Language
Encouraging vocal imitation (sounds, syllables, words).
Using naming games and storytelling.
Practicing daily phrases (“I want,” “help me”).
Alternative Communication Aids (when speech is very
limited):
Sign language: Gestures to express needs (eat, drink,
play).
Picture Exchange Communication System (PECS):
Child hands over a picture card to request an item
(juice, toy).
Assistive technology: Electronic communication
devices or apps with pictures/synthesized speech.
Parental Involvement
Parents are trained to reinforce language at home
during routines like mealtime, play, and bedtime.
Caregivers maintain consistency by practicing
words/signs/pictures throughout the day.
Step 4: Monitoring and Adaptation
Regular progress reviews every 1–3 months.
Therapy adjusted to the child’s pace—may shift from PECS
to spoken words or combine both strategies.
How Therapy Helps
Restores lost communication: Helps child regain expressive
and receptive skills step by step.
41

42. Reduces frustration and behavior issues: When children
have a way to communicate, tantrums and withdrawal
decrease.
Supports academic and social development: Child learns to
engage in school and play.
Promotes independence: Alternative communication ensures
child expresses needs even when speech is difficult.
Psychological treatment:
Psychological treatment emphasizes coping strategies, skill
building, and emotional regulation for both child and caregivers.
Family therapy may also be beneficial for improving relationships
and coping with loss.
Psychological treatment for children experiencing regression,
emotional distress, or trauma is a structured process that
involves both the child and caregivers. It focuses on teaching
coping skills, emotional regulation, and strengthening family
relationships while addressing the psychological impact of the
condition. Below is a detailed, structured, and patternized
overview.
Why Psychological Treatment is Done
Children: Regression or emotional difficulties can cause
frustration, anxiety, sadness, or withdrawal. They may
struggle with loss of control, social isolation, or medical
diagnoses.
Caregivers: Parents often experience stress, guilt,
helplessness, or grief, which can affect their ability to
support the child.
Overall goal: To help both the child and family cope, adapt,
and rebuild resilience, preventing long-term psychological
harm.
When Treatment is Provided
Early signs: Emotional outbursts, withdrawal, sleep
problems, sadness, aggression, or difficulty adapting to
change.
Post-diagnosis or regression: As soon as emotional or
behavioral issues are noticed, therapy should begin.
Continuation: Sessions are scheduled weekly or biweekly,
with periodic evaluations to adjust strategies.
What Therapy Involves
42

43. Step 1: Assessment
For child: Evaluate behavior, emotional state, coping
mechanisms, understanding of condition or loss.
For caregiver: Assess stress, emotional burden, and
parenting challenges.
For family: Understand relationships, communication
styles, and family dynamics.
Step 2: Psychological Goals
Child’s goals:
Develop coping strategies for frustration, sadness, or
anxiety.
Learn skill-building (problem-solving, self-soothing,
social interaction).
Improve emotional regulation (recognizing feelings,
calming techniques).
Caregiver’s goals:
Reduce stress and avoid burnout.
Improve parenting confidence and supportive
communication.
Learn coping techniques for grief and loss, if
applicable.
Family’s goals:
Improve mutual understanding and relationship
quality.
Strengthen supportive interactions instead of conflict.
Process shared experiences (such as the child’s
regression or illness).
Step 3: Intervention Methods
For the child:
Play therapy: Uses toys, drawings, or storytelling to
help the child express hidden worries.
Cognitive-behavioral therapy (CBT) methods: Child
learns to identify negative thoughts and replace them
with helpful ones.
Relaxation and calming strategies: Breathing exercises,
mindfulness, sensory tools (stress balls, weighted
blankets).
Skill-building games: Problem-solving tasks, turn-
taking games, role-playing with peers or the therapist.
For caregivers:
43

44. Parent training: Learning supportive responses,
behavior management strategies.
Stress management: Mindfulness, journaling,
counseling to handle their own emotions.
Support groups: Meeting other parents in similar
situations to reduce isolation.
For families (family therapy):
Guided discussions to improve listening, empathy, and
conflict resolution.
Joint exercises (family role-play, shared storytelling
about strengths) to build togetherness.
Coping with loss (e.g., lost skills, lost expectations, or
medical challenges).
Step 4: Reinforcement at Home
Parents continue activities introduced in therapy:
Practice calming strategies (deep breathing before
bedtime, labeling emotions together).
Schedule family rituals (shared meals, daily check-ins).
Encourage problem-solving as a unit instead of
punishment or avoidance.
Step 5: Monitoring Progress
Regular sessions with the therapist track goals.
Adjust focus if the child develops new needs (e.g., shifting
from frustration control → improving peer relationships).
Therapists provide feedback and homework activities.
How Psychological Therapy Helps
Child benefits: Learns to manage big emotions, adapt to
changes, and feel safe expressing themselves.
Caregiver benefits: Gains confidence and reduces
guilt/stress, enabling them to better support the child.
Family benefits: Relationships grow stronger,
communication improves, and resilience against stress/loss
increases.
General medicine doctors coordinate physical health, address
comorbid medical issues, monitor nutrition and growth, and
manage any medical complications related to regression or
treatments.
Counselling supports the emotional and practical needs of
families, providing information, advocacy, and strategies for day-
44

45. to-day challenges. Parent support groups and sibling counseling
are recommended.
Counseling for families of children with developmental regression,
disability, or chronic conditions is not limited to the child—it
addresses the whole family system. It provides emotional
support, advocacy, practical information, and skills to manage
daily challenges. Here is the detailed, structured, and patternized
overview.
Why Counseling is Done
Parents: Often struggle with stress, guilt, confusion about
medical systems, and feelings of isolation. Counseling helps
them gain clarity, emotional strength, and problem-solving
strategies.
Siblings: May feel neglected, jealous, confused, or even
guilty. They need support to process their emotions and
better understand their sibling’s condition.
Family unit overall: The well-being of the family directly
affects the child’s progress. Counseling ensures a more
resilient, informed, and supportive environment.
When Counseling is Provided
At diagnosis/regression stage: When the family first learns
about their child’s condition and coping feels overwhelming.
During adjustment phases: As the child undergoes therapy,
transitions to school, or faces new challenges.
Continuously, as required: Ongoing support through family
life changes, crises, or new developmental milestones.
Peer support phase: Parent support groups and sibling
counseling continue long term to prevent burnout.
What Counseling Involves
Step 1: Assessment
Determine emotional needs: stress, anxiety, grief,
relationship strain.
Identify practical challenges: schooling, therapy
coordination, finances, daily caregiving.
Understand family dynamics: communication patterns,
parenting stress, sibling adaptation.
Step 2: Goal Setting
Parents: Learn coping strategies, advocacy skills, and stress
reduction methods.
45

46. Siblings: Develop understanding, emotional support, and
healthy relationship with the child.
Family unit: Build teamwork, mutual encouragement, and
constructive problem-solving.
Step 3: Intervention Approaches
Direct Parental Counseling
Individual sessions for parents to process emotions
and plan daily strategies.
Advocacy guidance (how to approach schools,
therapists, healthcare systems).
Education on the child’s condition and realistic
expectations for progress.
Parent Support Groups
Groups led by professionals where parents share
experiences.
Provides emotional relief, a sense of community, and
practical advice.
Builds resilience by normalizing struggles and
celebrating small wins.
Sibling Counseling
Age-appropriate explanations of the child’s condition to
reduce confusion or guilt.
Safe space for siblings to express jealousy, sadness, or
frustration.
Activities (art, play, storytelling) to help siblings cope
emotionally.
Builds empathy and stronger sibling bonds.
Family Therapy Sessions (as needed)
Family meetings guided by a counselor to improve
communication.
Joint activities (games, shared problem-solving
exercises).
Teaching listening skills and ways to share
responsibilities at home.
Step 4: Reinforcement at Home
Parents practice daily stress management (journaling,
mindful breathing, shared couple time).
Siblings are included in caregiving in age-appropriate ways
to feel valued.
Families develop routines (family meals, weekend activities)
to strengthen unity.
46

47. Step 5: Monitoring and Adjustment
Periodic check-ins with counselor to see if families’
emotional and practical needs are being met.
Adjust strategies if new stressors arise (transition to new
schools, medical decisions).
How Counseling Helps
Parents: Reduces burnout, equips them with advocacy
skills, and creates a supportive peer network.
Siblings: Improves emotional well-being, reduces feelings of
neglect/resentment, and fosters closeness.
Family unit: Strengthens bonds, improves communication,
and ensures a healthier environment for the child to thrive.
Overall Structured Flow
1.Identify family’s emotional and practical struggles.
2.Assess parents’ needs, sibling worries, and family dynamics.
3.Plan counseling strategies (individual support, groups,
sibling care, family discussions).
4.Intervene with regular counseling sessions and support
groups.
5.Reinforce coping skills and family unity at home.
6.Monitor and adjust based on family’s evolving needs.
Do’s and Don’ts: Do maintain structured routines, offer
reassurance, tailor communication strategies to the child’s
abilities, engage in regular therapy, and collaborate closely with
medical professionals. Don’t force skills too rapidly, punish
regression, ignore behavioral changes, or delay intervention.
Vigilance about new or worsening symptoms is vital.
Why These Guidelines Are Important
Children with regression or developmental conditions thrive
in environments that are structured, safe, and supportive.
Home is the largest part of the child’s daily life, so therapy
must extend beyond clinic sessions.
Parents and caregivers act as co-therapists by reinforcing
skills, maintaining consistency, and adapting activities.
Mistakes (forcing, punishing, delaying intervention) can
worsen emotional well-being, increase frustration, and slow
progress.
When To Use These Strategies
47

48. Everyday life routines: morning routines, mealtimes,
playtime, bedtime.
During therapies: reinforcing what
speech/occupational/psychological therapy teaches.
In crisis situations: first aid for seizures or sudden
behavioral escalation.
Long-term: continuous adaptation as the child’s condition
changes.
What To Do (Structured Positive Practices)
Maintain Structured Routines
Predictable daily schedules (wake up, meals, therapy, play,
sleep) reduce anxiety and prevent behavioral outbursts.
Visual timers, picture schedules, or calendars can help
children understand and transition between activities.
Offer Reassurance
Provide emotional comfort when the child struggles,
regresses, or exhibits behaviors.
Use calming strategies like hugs (if welcomed), soothing
voice, and patient redirection.
Tailor Communication Strategies
Adapt methods to the child’s current abilities:
Use simple sentences, gestures, or visual aids.
Employ PECS, sign language, or devices if speech is
limited.
Allow extra time for response—avoid rushing.
Engage in Regular Therapy
Attend all speech, occupational, and psychological therapy
sessions consistently.
Reinforce strategies at home through practice (e.g.,
repeating daily exercises prescribed by therapists).
Collaborate with Medical Professionals
Maintain open communication with doctors, therapists, and
teachers.
Take notes on progress, behavioral changes, or symptoms to
update professionals.
Adjust therapy/home strategies based on professional
feedback.
What Not To Do (Critical Don’ts)
48

49. Don’t force skills too rapidly: Pushing beyond the child’s
comfort frustrates them and increases resistance. Instead,
use gradual progression with positive reinforcement.
Don’t punish regression: Loss of skills is not the child’s
fault; punishment increases emotional distress. Replace
with support and encouragement.
Don’t ignore behavioral changes: New repetitive behaviors,
aggression, or withdrawal may signal psychological distress
or medical issues. Report promptly.
Don’t delay intervention: Early help dramatically improves
long-term outcomes. Waiting worsens gaps in
communication and skill-building.
Parent and Caregiver Training
Behavioral and Communication Techniques
Learn positive reinforcement (reward desired behaviors,
ignore mild negative ones).
Use modeling, role-play, or story-based teaching for social
and emotional skills.
First Aid for Seizures
Parents trained to recognize seizure types, keep child safe
during episodes, and know emergency steps.
Helps prevent injury and reduces crisis anxiety.
Use of Assistive Devices
Training in wheelchairs, communication boards, hearing
aids, or electronic devices.
Ensures correct usage, daily integration, and maintenance.
Advocacy Skills
Empower parents to advocate for therapy access, school
accommodations, and healthcare needs.
Increases the child’s opportunities for inclusion and
resources.
Home Program Essentials
Reinforce Therapy Goals
Daily practice of exercises recommended by therapists.
Example: repeating speech drills, occupational therapy fine-
motor activities, relaxation exercises.
Employ Consistent Behavioral Strategies
Unified parenting approach (both parents use same
reinforcement rules).
49

50. Prevents confusion and strengthens results.
Facilitate Social Engagement
Arrange playdates, group activities, or family events to build
interaction skills.
Teach turn-taking and empathy through structured play.
Adapt Activities for Safety and Stimulation
Ensure home adaptations (locked cupboards, padded play
area if seizures occur).
Provide safe sensory activities (clay, music, water play).
Keep tasks fun and developmental—education blends with
stimulation.
How These Strategies Help
Child: Gains predictability, feels safe, maintains skill
progress, improves emotional regulation.
Parents: Reduced confusion and stress, more confidence in
managing difficult situations.
Family unit: Greater consistency, harmony, and shared
responsibility.
Medical/therapy team: Improved progress rate when the
home environment supports therapy goals.
Structured Flow of Implementation
1.Identify child’s medical, emotional, and behavioral needs
with professionals.
2.Educate parents and siblings through structured training
programs.
3.Establish home routines and communication strategies.
4.Reinforce therapy goals through consistent home practice.
5.Monitor child’s symptoms, behaviors, and progress.
6.Collaborate regularly with medical/therapy providers.
7.Adapt as child grows or new symptoms emerge.
Training includes parent education in behavioral and
communication techniques, first aid for seizures, use of assistive
devices, and advocacy skills. Home programs should reinforce
therapy goals, employ consistent behavioral strategies, facilitate
social engagement, and adapt activities for safety and
stimulation.
Government help and schemes in India:
50

51. Government help and schemes in India: Assistance may be
available under schemes such as the National Trust Act
(Disabilities Act), various state welfare services, disability
certification and benefits, grants for therapy and special
education, scholarships for children with disability, and health
insurance coverage for severe disabilities. Government benefits
include tax exemptions, travel concessions, and rehabilitation
support via local disability centers. Many NGOs and government
hospitals offer free or subsidized therapy, inclusive education,
assistive technology provisions, and parental counseling.
Why Government Help Is Important
Financial relief: Families of children with disabilities bear
high costs for therapy, assistive devices, medication, and
special education.
Equal opportunities: Laws ensure children are not excluded
from schools or social participation.
Early intervention: Subsidized programs allow families to
access therapy on time without delay.
Rehabilitation support: Families receive structured aid for
ongoing care, equipment, and counseling.
When Support Is Accessed
Post-diagnosis or regression confirmation: When a child is
medically assessed and recommended therapy.
Disability certification stage: Families register their child
under government disability boards to access benefits.
Throughout childhood and education: Schemes exist from
early intervention (0–6 years) up to scholarships for higher
studies.
During major needs: Assistive devices, rehabilitation, or
when financial support is essential for continuity of
treatment.
What Support Includes
National Trust Act & Disability Rights
The Rights of Persons with Disabilities (RPwD) Act, 2016:
Recognizes 21 disability categories and guarantees rights to
education, healthcare, and social protection.
National Trust Act (1999): Covers conditions like autism,
cerebral palsy, multiple disabilities. Provides legal
guardianship, caregiver allowances, and welfare schemes.
Disability Certification
Issued by district hospital or medical board.
51

52. Enables child to get official recognition and access all
disability-linked benefits.
Certificate usually states percentage of disability which is
required for schemes.
Financial Benefits
Disability pension/stipend: For families from low-income
groups caring for disabled children.
Grants for therapy and rehabilitation: May cover speech
therapy, occupational therapy, physiotherapy.
Tax exemptions: Parents can claim deductions for medical
expenses under Sections 80DD and 80U of the Income Tax
Act.
Educational Support
Inclusive education programs under Samagra Shiksha
Abhiyan (SSA).
Scholarships for children with disabilities for primary,
secondary, and higher education.
Special education grants: Assistive teachers and resource
centers provided in schools.
Travel & Daily Needs Concessions
Railway concessions: Up to 75% fare reduction for children
with disability (with valid certificate).
Airfare concessions: Discounts provided on domestic travel
by some airlines.
Free bus passes in certain states.
Health and Insurance Coverage
Rashtriya Bal Swasthya Karyakram (RBSK): Early
identification and intervention services for children with
developmental delays and disabilities.
Niramaya Health Insurance (National Trust): Affordable
insurance for children with autism, cerebral palsy,
intellectual disabilities, etc.
Free/subsidized treatment available in government
hospitals, AIIMS centers, and disability rehabilitation
centers.
Rehabilitation and Assistive Devices
ADIP Scheme (Assistance to Disabled Persons for
Purchase/Fitting of Aids and Appliances): Provides hearing
aids, mobility devices, wheelchairs, prosthetics at
subsidized rates.
52

53. DDRCS (District Disability Rehabilitation Centers): Offer
physiotherapy, occupational therapy, speech therapy, and
counseling locally.
NGO and Counseling Support
Many NGOs (Spastics Society of India, Vidya Sagar,
ActionAid, etc.) offer:
Free/low-cost therapy sessions.
Parent training workshops.
Counseling for caregivers.
Provision of educational kits and inclusive classrooms.
How Support Is Accessed (Step-By-Step Flow)
1.Diagnosis by a pediatrician or neurologist → referral for
disability certification.
2.Apply for a disability certificate at district hospital/board.
3.Register with local welfare office, Social Justice Department,
or National Trust schemes.
4.Choose benefits applicable: therapy grants, education
support, insurance, travel concessions.
5.Integrate support into child’s care:
Therapy sessions subsidized.
Assistive technology/appliances provided.
Child enrolled in school with additional resource
teachers.
6.Follow-up periodically (usually yearly review) to renew
benefits or reassess eligibility.
How These Schemes Help in Treatment
Child: Gains early access to therapy, inclusive education,
mobility aids, and health insurance.
Parents: Financial relief through tax benefits, stipends,
concessions, and reduced caregiving burden.
Family unit: Structured counseling/help groups for
adjustment and support.
Community integration: Assists the child in participating in
schools, travel, and society without exclusion.
Benefits from Government of India:
Benefits from Government of India: Children diagnosed with
CDD can access disability pensions, reserved seats in schools
and colleges, scholarships, assistive device grants, professional
53

54. support via District Disability Rehabilitation Centres (DDRC), and
medical coverage under Rashtriya Bal Swasthya Karyakram
(RBSK). Parents are entitled to caregiver allowances, legal
guardianship, and priority under government housing schemes.
Applications for certification and welfare support can be
submitted via district social welfare offices or the national
disability portal. Families are encouraged to seek out local
“Samarth” and “Gharaunda” centers for therapy, respite, and
community integration.
Benefits for the Child
Disability Pensions
Financial assistance is provided to children with
certified disabilities (including CDD).
Amount varies by state but usually given monthly to
support basic needs and therapy costs.
Reserved Seats in Schools and Colleges
Children with disabilities are eligible for quota-based
admissions in government and private schools.
This ensures inclusive education and prevents denial of
opportunities based on disability.
Similar reservations are available in higher education
and vocational training institutions.
Scholarships
Special scholarships for disabled children cover school
fees, uniforms, study materials, and higher education
costs.
Awarded at the central and state levels to reduce
financial burden and promote continuous learning.
Assistive Device Grants (ADIP Scheme)
Provides free or subsidized aids such as hearing aids,
spectacles, wheelchairs, walkers, prosthetics, or
customized educational kits.
Distributed through government hospitals, DDRCs, or
NGO partners.
Helps improve independence and participation in
education and daily life.
Professional Support via DDRC (District Disability
Rehabilitation Centres)
Local centers offering free/low-cost services including:
Speech therapy
Physiotherapy
Occupational therapy
54

55. Psychological assessment and counseling
Families don’t need to travel far as DDRCs cover
multiple districts.
Medical Coverage under Rashtriya Bal Swasthya Karyakram
(RBSK)
Part of the National Health Mission.
Provides early identification and intervention
services for children with developmental delays, CDD,
or other disabilities.
Free screening in schools, Anganwadis, and hospitals;
covers treatment costs or referrals to higher centers.
Benefits for the Parents
Caregiver Allowances
Some schemes provide monthly honorariums to
caregivers (usually mothers/fathers) who cannot
pursue full-time employment due to caregiving
responsibilities.
Legal Guardianship (via National Trust Act)
Ensures legal security for a child with intellectual and
developmental disabilities.
Parents or appointed guardians gain the right to
make financial, medical, and legal decisions on behalf
of the child.
Priority under Government Housing Schemes
Families with a disabled child are given preference
when applying for low-cost housing under schemes
like PMAY (Pradhan Mantri Awas Yojana).
Ensures secure, accessible living spaces for the child.
Application Process
Where to Apply
District Social Welfare Office: For pensions,
scholarships, allowances, and assistive devices.
National Disability Portal (online): Allows families to
submit applications for certification, schemes, and
updates.
Government hospitals/district boards: For disability
certificate and medical assessment.
Steps
1.Collect medical documents and diagnosis confirmation
for CDD.
55

56. 2.Apply for a disability certificate at the district hospital
or medical board.
3.Register at the district social welfare office for
pensions, scholarships, and device grants.
4.Use the National Portal for Persons with Disabilities for
online applications and tracking.
Additional Support Programs
Samarth Centres
Government-backed centers offering residential
support, respite care, and skill development.
Provides temporary care for children when parents
need a break or face emergencies.
Gharaunda Centres
Residential facilities for lifelong care of children with
disabilities.
Offers supervised living, therapy, vocational training,
and community integration.
Designed for children with severe conditions who
require continuous support.
RETT SYNDROME
Definition and Discovery
Rett syndrome (RTT) is a rare, severe neurodevelopmental genetic
disorder, predominantly affecting females. After an initial period
of seemingly normal development (usually the first 6–18 months),
children experience regression in cognitive, social, and
purposeful motor skills, most distinctively losing hand functions
and developing repetitive movements such as hand-wringing,
washing, or clapping. The condition was first described by
Austrian physician Andreas Rett in the 1960s and later brought
to wider attention in the English-speaking world by Bengt
Hagberg and colleagues in 1983. Classic RTT is considered
distinct within the autism spectrum due to its genetic basis and
progressive phenotype.
Etiology (Cause) and Genetics
Rett syndrome is most commonly caused by mutations in
the MECP2 gene, located on the X chromosome. This gene
encodes the MeCP2 protein, which is critical for brain
development and neural function. RTT is almost always sporadic,
arising from new (de novo) mutations; only about 1% of cases are
inherited. Because males with MECP2 mutations typically do not
56

57. survive infancy (due to the lack of a second X chromosome), RTT
nearly exclusively affects girls. The severity and clinical course
can vary depending on the exact mutation and X-inactivation
pattern.
Pathology
At a cellular level, RTT is marked by abnormal functioning in
synaptic pathways and compromised maintenance of neuronal
architecture. Microcephaly (acquired small head size) becomes
evident as growth slows postnatally. There is not extensive
neuronal loss, but evidence of dendritic and synaptic dysfunction
is seen, contributing to the observed neurological deficits.
Additionally, neurotransmitter systems—especially glutamatergic
and GABAergic—are affected.
Signs, Symptoms, and Clinical Characteristics
Early Development
Children with Rett syndrome typically have uncomplicated
pregnancies and normal delivery.
For the first 6–18 months of life, development appears
typical—normal muscle tone, movement, growth,
communication attempts, and social engagement.
Subtle early differences may later be noted: slightly
diminished muscle tone (hypotonia), quieter disposition,
poor sucking and weak cry, or delayed gross motor
milestones.
Regression Phase (Rapid Deterioration)
Begins between ages 1–4 years.
Loss of purposeful hand skills (e.g., grasping objects,
feeding self, clapping hands on command) is often the first
visible sign.
Speech and language skills regress rapidly: loss of single
words or sentences, less babbling, and diminished ability to
communicate both verbally and nonverbally.
Loss of social interest: reduced eye contact, disinterest in
toys or surroundings, and difficulty sharing attention with
caregivers.
Marked by periods of regression that can be rapid or
gradual, spanning weeks to months.
Some children appear anxious, withdrawn, or disengaged
from social and interactive play that was previously present.
Hand Stereotypies (Distinctive Hand Movements)
57

58. Almost universal in Rett syndrome, taking many forms,
such as:
Hand-wringing (in front of body or by side)
Clapping or patting
Tapping or squeezing
Rubbing or repetitive movements towards mouth
Washing or wringing motions, sometimes involving
biting or mouthing fingers
Movements are difficult to control, repetitive, and generally
replace intentional hand use.
Motor and Movement Disorders
Impaired coordination and mobility: difficulty standing,
walking, or transitioning between positions.
Loss of previously gained motor skills (e.g., crawling,
walking, running).
Ataxia (unsteady, wobbly gait), apraxia (inability to carry out
learned movements even though physical ability is
preserved), and bradykinesia (slowness of movement).
Abnormal walking patterns: wide-based stance, toe-walking,
stiff-legged gait, or frequent falls.
Spasticity emerges: increased muscle tone, especially in
lower limbs, resulting in stiffness or tightness.
Rigidity (stiffness that resists movement) and dystonia
(involuntary muscle contractions causing abnormal
postures) are common.
Some children develop tremors in the hands or limbs,
especially during movement.
Cognitive Impairment/Intellectual Disability
Severe to profound intellectual disability develops following
regression phase.
Loss of capacity to carry out daily tasks or comprehend new
concepts.
Problems in attention span, poor memory, and difficulty in
processing or retaining new information.
Communication is affected by both cognitive and motor
impairments, making assessment challenging.
Seizures and Epileptic Activity
Seizures occur in up to 90% of individuals with Rett
syndrome.
58

59. Multiple types: generalized tonic-clonic, absence, or focal
seizures.
Seizures can present variably (staring spells, twitching,
sudden limpness), and their frequency may increase with
age.
Epileptiform activity is often seen on EEG, even in absence
of clinical seizures.
Seizure control is often challenging, requiring careful
neurologist supervision.
Autonomic Dysfunction
Breathing irregularities during waking hours:
Breath-holding spells, hyperventilation (rapid
breathing), or forced exhalation of air or saliva.
Swallowing air (aerophagia), which can cause
abdominal distension.
Shallow breathing, or pauses in breathing (apnea),
especially at night.
Cardiac arrhythmias and prolonged QT interval can occur
and lead to sudden, life-threatening complications in some
cases.
Gastrointestinal dysfunction: chronic constipation, reflux,
trouble chewing, or swallowing difficulties, sometimes
requiring feeding tube.
Growth Issues
Microcephaly (smaller head circumference), often noticed as
growth percentiles decrease.
Generalized slowed growth in height and weight emerges in
late infancy or early childhood.
Poor weight gain and muscle wasting are seen, partially due
to feeding/swallowing difficulties, increased energy
expenditure, and overall neurological dysfunction.
Behavioral and Emotional Features
Irritability and episodes of inconsolable crying or
screaming are frequent and can last hours.
Sudden mood changes or emotional lability, sometimes with
little apparent trigger.
Autistic-like withdrawal: loss of social interest, less
interaction with caregivers, limited response to social cues.
Periods of fear, anxiety, or hyperarousal.
Periods of agitation may alternate with long periods of calm
or placid behavior.
59

60. Occasional sudden bursts of laughter, odd or expressive
facial movements, hand licking, grasping clothes/hair.
Additional Features
Scoliosis (sideways spine curvature): starts between ages 8-
11, may become severe and require bracing or surgery.
Osteoporosis or osteopenia (weak, fragile bones): higher risk
due to reduced mobility and nutrition.
Sleep disturbances: irregular sleep patterns, frequent
nighttime awakening, excessive daytime sleepiness, or
trouble falling asleep.
Cold hands/feet and mottled skin (vasomotor instability).
Decreased response to painful stimuli; parents may notice a
lack of usual reactions to minor injuries.
Teeth grinding (bruxism), usually most pronounced at night
or during periods of stress.
Other physical findings: small hands and feet, slow nail and
hair growth, drooling due to poor oral motor control,
frequent constipation or bowel problems.
Eye movement abnormalities: intense staring, reduced
blinking, crossing of eyes (strabismus), or closing one eye at
a time.
Some girls may lose the ability to walk; others retain limited
ambulatory ability into adulthood.
Problems with chewing and swallowing may develop, leading
to aspiration risks.
Growth failure continues to worsen with age in most cases.
Types and Classification
Rett syndrome can be broadly classified into classic (typical) Rett
syndrome and several atypical (variant) forms, each with distinct
clinical presentations, genetic findings, and prognoses. A deep
understanding is important for diagnosis, management, and
family counseling.
1. Classic (Typical) Rett Syndrome
Definition: Classic Rett syndrome is the most prevalent and
widely recognized form. It follows a well-defined course of
normal early development, then rapid regression of hand
and language skills, followed by distinctive neurological
features and progressive disability.
Phases:
60

61. Early normal development (birth to 6-18 months)
Rapid regression phase with loss of purposeful hand
skills and speech
Appearance of hand stereotypies (wringing, tapping,
clapping)
Plateau stage with stabilization of losses, then late
motor deterioration
Key clinical characteristics:
Profound loss of communication and motor abilities
Severe impairment in daily activities
Gait ataxia or loss of the ability to walk
Apraxia, ataxia, seizures, breathing abnormalities,
scoliosis, and growth restriction
Genetics: Majority are linked to mutations in
the MECP2 gene. Onset and severity may be influenced by
the specific mutation and X-inactivation patterns.
2. Atypical (Variant) Rett Syndrome
Atypical forms are diagnosed when the full criteria for classic Rett
syndrome are not met, but significant overlap in features is
present. These include:
a) Congenital/Rolando Variant
Features: Severe symptoms present from birth or very early
infancy, without a period of normal development.
Clinical Picture: Profound muscle hypotonia, minimal or
absent motor and cognitive milestones, poor visual tracking,
and developmental stagnation are present from the start.
Hand Stereotypies: May not be prominent; purposeful hand
use often never develops.
Eye Gaze: Typical patterns of intense or communicative eye
contact are often missing or abnormal.
Genetics: Less likely to be associated
with MECP2 mutations; can involve other genes such as
FOXG1.
Course: Progression can be very severe, with limited
potential for any recovery or gain of skills.
b) Zappella/Preserved Speech Variant
Overview: Also called the preserved speech variant, first
described by Dr. Michele Zappella in 1992. It is a milder
form where, after regression, children recover or retain
language and some motor skills.
61

62. Onset: Similar to classic form, but regression may be less
severe, and partial recovery follows.
Speech and Hand Skills: These children regain the ability to
speak (single words to sentences) and use their hands for
daily tasks, drawing, or writing. Manual function is partially
preserved.
Additional Findings:
Normal head size and growth parameters for most
Autistic behaviors are frequent (up to 76% of cases)
Obesity is more common
Mild neurovegetative abnormalities
Less frequent and milder epilepsy (about 30%) and
scoliosis
Genetics: More likely to involve missense mutations or late
truncating mutations in MECP2
Functionality: Girls may be categorized as low, intermediate,
or high functioning according to speech and manual
abilities. Some can walk, draw, write, and retain social skills
far better than in the classic type.
c) Hanefeld/Early Epileptic Variant
Definition: Severe form characterized by the early and
prominent onset of epilepsy, often preceding or occurring by
5 months of age.
Symptoms: Early, difficult-to-control seizures that
accompany or precede the regression phase. Profound
delays in milestone achievement, very limited development
of hand use and language.
Genetics: Often associated with mutations in genes other
than MECP2, especially CDKL5.
Prognosis: Symptoms often remain severe throughout life,
with multiple disabilities and high seizure burden.
d) Other Atypical/Variant Forms
Features: Includes presentations with late regression,
incomplete or less obvious hand stereotypies, less
prominent loss of motor skills, or a mixed picture that does
not fit the above subtypes exactly.
Late Regression Variant: Regression occurs later (usually
after age 2), gradual loss of abilities. Motor and
communication skills may be retained longer.
Overlap Phenotypes: Some children present features
intermediate between classic RTT and other
62

63. neurodevelopmental disorders; these can be associated with
atypical MECP2 mutations or mutations in related genes.
Stages of Disease Progression
Rett syndrome progresses through four distinct stages, each
characterized by specific clinical features and challenges.
Understanding these stages helps clinicians, caregivers, and
educators anticipate changes and tailor interventions
appropriately.
1. Early Onset/Developmental Stagnation (6-18 months)
Typically begins between 6 and 18 months of age.
Development appears normal at birth and during the first
months.
Gradual slowing or plateauing of growth and development
milestones.
Subtle signs include reduced eye contact and diminished
interest in toys or social interaction.
Motor delays such as late sitting, crawling, or standing may
be evident.
Low muscle tone (hypotonia) and difficulties with feeding
(poor sucking or swallowing) may occur.
The child may appear unusually quiet or lethargic compared
to peers.
Early hand stereotypies may begin to manifest subtly during
this period.
Head growth deceleration starts, often leading to
microcephaly.
This stage can last several months to over a year, with
symptoms often overlooked or misattributed.
2. Rapid Destructive/Regression Phase (1-4 years)
Onset usually between ages 1 and 4 years.
Characterized by a rapid and significant loss of previously
acquired skills.
Loss of purposeful hand use, accompanied by the
emergence of classic hand stereotypies (wringing, clapping,
tapping, rubbing).
Speech abilities decline or disappear.
Social withdrawal and diminished eye contact become
prominent.
Developmental regression can happen swiftly, often over
weeks to months.
63

64. Additional symptoms include breathing irregularities such
as hyperventilation, breath-holding, or apnea.
Behavioral changes may include inconsolable crying,
screaming episodes, and sleep disturbances.
Motor skills deteriorate, with worsening coordination and
mobility difficulties.
Autistic-like features become more apparent, including
reduced interaction and repetitive behaviors.
Seizures may begin during this stage.
3. Plateau/Pseudo-Stationary Phase (2-10 years and
beyond)
This stage often overlaps with the regression phase and
continues into later childhood and adolescence.
The rapid loss of skills stabilizes; some children regain
limited abilities or develop new skills, especially in
communication and social interaction.
Hand stereotypies persist but may become less intense.
Seizures are common and may increase or stabilize during
this phase.
Motor difficulties, such as ataxia (unsteady gait), apraxia
(difficulty in purposeful movements), and spasticity, remain
significant.
Behavioral issues such as irritability tend to decrease.
Improved alertness, attention, and social interest may be
seen.
Cognitive abilities remain severely impaired but tend to
stabilize.
Feeding problems persist; nutritional support may be
necessary.
4. Late Motor Deterioration (after 10 years)
Begins after age 10 and can extend for decades.
Marked by a progressive decline in motor skills with
increased muscle rigidity and spasticity.
Joint contractures develop, limiting motion and function.
Scoliosis (curvature of the spine) commonly worsens and
may require orthopedic intervention.
Mobility decreases; some individuals lose the ability to walk.
Hand stereotypies and seizures may reduce in severity or
frequency.
64

65. Cognition and communication skills generally remain stable
or may show slight improvement through alternative
communication methods like eye gaze.
Autonomic functions such as breathing abnormalities
become less prominent.
Quality of life depends heavily on multidisciplinary care
addressing mobility, nutrition, and respiratory health.
Diagnosis and Testing Methods
Clinical Diagnosis: Based on characteristic symptoms and
developmental history
Genetic Testing: Confirmation via identification
of MECP2 mutation (blood test)
Assessment of Exclusion: Rule out other
neurodevelopmental disorders
Electroencephalogram (EEG): Used to detect seizure activity
Neuroimaging (MRI/CT): No specific findings, but may be
used to exclude other brain abnormalities
Other Laboratory Tests: To screen comorbidities or
secondary issues (e.g., metabolic tests to rule out inborn
errors of metabolism)
Standardized Assessment Tools: Include Rett Syndrome
Behaviour Questionnaire, Vineland Adaptive Behavior
Scales, and clinical developmental milestone charts.
Assessments and Forms
Rett Assessment Rating Scales: Structured forms to monitor
severity, progression, and response to treatment (e.g., Rett
Syndrome Severity Scale, Clinical Severity Score)
Motor and Functional Checklists: Evaluate mobility, hand
use, ADLs, and language
Seizure Logs: Track seizure type, frequency, and response to
antiepileptic drugs
Nutritional Assessments: To ensure adequate growth and
prevent malnutrition
Procedure: Forms are generally filled out by a
multidisciplinary team (physician, therapist, caregivers)
during clinic visits; observational and input-based.
Radiological Imaging and Investigations
MRI: May show mild global atrophy, reduced brain volume,
possibly nonspecific white matter changes (not diagnostic)
EEG: Abnormal patterns often develop over time, helpful for
seizure management
65

66. X-Rays: Used primarily to monitor for musculoskeletal
issues like scoliosis
Other Investigations: Echocardiogram and ECG to detect
cardiac arrhythmias; bone density scans for osteoporosis
Differential Diagnosis
Autism Spectrum Disorder (ASD)
Childhood Disintegrative Disorder
Cerebral Palsy
Angelman Syndrome
Fragile X Syndrome
Mitochondrial disorders
Key distinguishing feature: Period of normal development
followed by regression, plus specific hand stereotypies and
genetic findings.
Treatment Approaches
General Principles
No cure exists. Treatment is multidisciplinary and lifelong,
oriented towards symptom management, maximizing
independence, and improving quality of life.
Medical (Non-Surgical) Management
Anti-seizure Medications: To manage epilepsy
Muscle Relaxants: For spasticity (e.g., baclofen)
GI Medications: Address reflux, constipation, feeding
difficulties
Cardiac Medications: As needed for arrhythmias
Bone Health: Calcium, vitamin D supplementation,
bisphosphonates if osteoporosis
Sleep Aids: Such as melatonin, as needed
Surgical Management
Orthopedic Interventions: Spinal fusion for scoliosis,
surgical correction of hip dislocation if severe
Feeding Tubes: (Gastrostomy) if oral feeding is
compromised, to maintain nutritional status
Therapy Interventions
Physiotherapy
Goals: Prevent contractures, improve/maintain joint
mobility, strengthen muscles, promote balance and
ambulation as able
Techniques: Assisted stretching, range-of-motion exercises,
postural support, gait training, use of orthoses (braces)
66

67. Regular, individualized programs are essential
Occupational Therapy
Focuses on improving hand use, self-care, adaptive skills,
use of assistive devices for mobility and communication,
customized for the child's abilities
Speech and Language Therapy
Although most girls lose spoken language, nonverbal
communication (especially eye gaze, symbol boards,
augmentative and alternative communication [AAC] devices)
is emphasized and can lead to significant improvement in
expressing needs
Psychological and Behavioral Interventions
Behavioral therapy modifies problematic behaviors and
encourages social interaction
Cognitive interventions target attention and engagement via
visual stimuli, music, and environmental structuring
Psychotherapy and Counseling
Emotional support for child and family, coping strategies
Parent training programs for better home management
General Medicine and Routine Care
Vigilant monitoring of general health (routine infections,
vaccinations, nutritional status)
Gastroenterological, orthopedic, cardiac follow-up
Do’s and Don’ts With Children Having Rett Syndrome
Do’s:
Encourage safe movement and regular stretching; provide
supportive devices
Use clear, consistent communication routines (including
picture boards)
Involve the child in family and community activities
Provide emotional support and patience
Keep a structured environment
Monitor nutrition, hydration closely
Don’ts:
Don’t force tasks that are beyond physical capacities
Don’t ignore non-verbal communication attempts
Don’t overlook pain or new symptoms (these children can
have reduced ability to express discomfort)
Don’t use overly stimulating, chaotic environments
Home Programs and Parental Training
67

68. Daily movement and passive stretching routines
Hand function exercises using play and routine activities
Encourage use of adaptive communication tools
Safe feeding techniques and proper nutritional support
Family education on seizure monitoring and first aid.
Trainings and Staff Education
School staff, caregivers, therapists should be trained in
communication methods, emergency seizure management,
and safe mobility handling procedures
Government Support and Benefits (India Perspective)
Disability Registration: Children with Rett syndrome can be
registered under the Rights of Persons with Disabilities Act,
2016, enabling access to multiple benefits (concessions,
reservations, aids)
National Trust Act Benefits: Early intervention, trained
caregivers, respite care, daycare services
ADIP Scheme: Free or subsidized assistive devices,
including wheelchairs, hearing aids, and communication
tools
Scholarships and Education: Government-sponsored
scholarships, inclusive educational opportunities, fee
concessions in schools
Social Security: Disability pension schemes for families with
disabled children
Pervasive Developmental Disorder Not Otherwise Specified
(PDD-NOS)
Definition
68

69. Pervasive Developmental Disorder Not Otherwise Specified (PDD-
NOS) was a diagnostic category within the group of pervasive
developmental disorders. Introduced in DSM-IV and described by
authors such as Allen C. Mason and Susan R. Bryson, it was
used to identify children and adults who showed some, but not
all, features of autism, Asperger’s Disorder, or other specific
conditions in the spectrum. The hallmark of PDD-NOS was
significant impairment in social interaction and/or
communication, along with restricted and repetitive behaviors or
interests, but without matching the exact criteria for other
autism spectrum disorders. With the arrival of DSM-5, most
cases previously diagnosed as PDD-NOS are now classified under
the umbrella of Autism Spectrum Disorder (ASD).
Etiology
The cause of PDD-NOS is considered multifactorial, involving
complex interactions between genetic and environmental factors.
Research by Eric Courchesne and others highlights genetic
mutations, family history of neurodevelopmental disorders, and
prenatal risk factors (such as maternal infections or exposure to
toxins) as contributors. No single gene or environmental event
explains all cases, but abnormalities in neurodevelopmental
pathways are consistently found. Immunological problems and
perinatal complications have also been implicated, though no
definite cause is universal for all individuals.
Pathology
Pathological findings in PDD-NOS align closely with other autism
spectrum disorders. Brain imaging and postmortem studies show
atypical development and connectivity, notably in the frontal
lobes, temporal regions, and cerebellum. Microscopically,
disrupted synaptic pruning, abnormal minicolumn architecture
in the cortex, and imbalances in neurotransmitter systems (such
as GABA and glutamate) are observed. Neuropathological
findings, while not pathognomonic, indicate altered neural
networks influencing social and communication abilities.
Signs, Symptoms, and Characteristics
1. Social Interaction Difficulties
Difficulty Understanding Social Cues: Children with PDD-
NOS often struggle to interpret subtle social signals, such as
facial expressions, tone of voice, or body language, which
are vital for understanding others’ emotions and intentions.
69

70. Limited Eye Contact: They may avoid or exhibit reduced eye
contact during communication. Eye contact is a key part of
non-verbal communication that helps connect socially.
Challenges in Forming Relationships: These children might
find it hard to initiate or maintain friendships and social
bonds due to difficulty interpreting social norms or feeling
unsure in group settings.
Lack of Reciprocity in Conversation: Communication is
often one-sided, with difficulty in back-and-forth exchanges.
They may not respond to others’ comments appropriately or
struggle to take turns.
2. Communication Challenges
Delays in Spoken Language: Some children have late onset
of talking or limited vocabulary compared to age
expectations.
Limited Use of Gestures: Gestures like pointing, waving, or
nodding are often reduced, which limits the ability to
express needs non-verbally.
Difficulty Starting or Maintaining Conversations: Initiating
conversations can be challenging, and sustaining dialogue
may be limited in scope or depth.
Echolalia: This is the repetition of words or phrases either
immediately after hearing them (immediate echolalia) or
after a delay (delayed echolalia). This behavior can be a way
to communicate or process language but may disrupt
natural conversational flow.
3. Behavioral Patterns
Stereotyped or Repetitive Movements: Repetitive hand-
flapping, rocking, or spinning objects are common and may
serve as self-soothing or regulation.
Intense Interest in Specific Topics: Children often show a
restricted focus, becoming deeply absorbed in a particular
subject or object.
Need for Routines: They may insist on sameness and
predictable daily schedules. Changes can lead to distress or
confusion.
Sensitivity to Sensory Stimuli: Heightened or diminished
responses to sensory input such as bright lights, loud
sounds, or certain textures may be observed, resulting in
either avoidance or fascination.
4. Cognitive Profile
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71. Uneven Skill Development: Cognitive abilities are often
uneven; for example, a child might have excellent memory
or visual-spatial skills but struggle with reasoning, problem-
solving, or abstract thinking.
Strengths and Delays: Strength might lie in areas like
recalling facts, puzzles, or detailed observation, whereas
delays can affect flexible thinking or understanding complex
concepts.
5. Severity and Progression
Milder or Variable Symptoms: Compared to classic autism,
symptoms in PDD-NOS tend to be less severe or more
inconsistent. Some children may only show subtle social or
communication difficulties.
Improvement with Early Intervention: Many children benefit
substantially from therapies begun early, which help
mitigate impairments and build skills.
Ongoing Support Needs: Despite improvement, many
children with PDD-NOS will require lifelong supports to
navigate social situations, communication, and daily living
tasks.
Clinical Features of Children with PDD-NOS
Understanding the clinical features of children with Pervasive
Developmental Disorder Not Otherwise Specified (PDD-NOS) is
essential for early recognition, diagnosis, and intervention. These
features often present subtly and can vary widely across
individuals, which sometimes makes diagnosis challenging.
Onset and Age of Symptom Appearance
Children with PDD-NOS usually exhibit signs and symptoms
before their third birthday, although the exact age of onset can be
difficult to pinpoint initially. The early signs are often very subtle,
which can delay recognition and diagnosis. For many children,
parents and caregivers might notice developmental delays or
atypical behaviors during routine interactions or developmental
milestones.
In some cases, the presentation of symptoms is so mild or
variable that diagnosing PDD-NOS is postponed until the child is
older. As the child's social, communication, and behavioral
patterns do not fully fit into traditional categories such as autism
or Asperger’s disorder, clinicians may initially consider other
developmental issues before arriving at a definitive diagnosis.
Play Skills and Social Behaviors
71

72. Inconsistent Play Skills:
Children with PDD-NOS often show inconsistent or limited play
skills. They may engage in repetitive or stereotyped play
behaviors, such as lining up toys or spinning objects, but may
not demonstrate variability or imagination typical of their peers.
Difficulty with Pretend or Symbolic Play:
Pretend play, a critical developmental milestone occurring around
age 2-3, involves children using objects imaginatively or role-
playing. Many children with PDD-NOS exhibit delays in pretend
play or do not engage in it at all. When they do play
imaginatively, it may be repetitive, lack spontaneity, or be rigid in
nature.
Social Interaction Challenges:
Children often display difficulties understanding social cues,
which affects their ability to develop peer relationships. They may
prefer solitary activities or seem indifferent to social interaction,
showing limited interest in playing with other children.
Sleep and Eating Behaviors
Sleep Disturbances:
Sleep problems are highly prevalent among children with PDD-
NOS. Common issues include difficulty falling asleep, frequent
night wakings, and early morning awakening. Disruptions in
sleep can exacerbate behavioral problems, emotional lability, and
developmental delays.
Irregular Eating Patterns:
Children may exhibit picky eating behaviors, sensory sensitivities
related to food textures, or irregular eating schedules. These
challenges can impact growth and nutritional status, further
affecting development.
Emotional Regulation and Behavior
Emotional Regulation Difficulties:
A hallmark feature is the child's struggle with managing
emotions. They often experience intense reactions to minor
frustrations, leading to frequent tantrums, crying spells, or
outbursts. Such emotional lability can impair social functioning
and daily routines.
Rigidity and Inflexibility:
Many children with PDD-NOS develop rigid routines and exhibit
strict adherence to certain habits. They often resist changes,
become distressed with disruptions, or show obsessive behaviors.
72

73. This rigidity contributes to a predictable routine, which can be
calming for them.
Intellectual and Cognitive Features
Mild to Moderate Intellectual Impairment:
While not all children with PDD-NOS exhibit intellectual
disabilities, many demonstrate varying degrees of cognitive
impairment. The severity can range from mild to moderate,
impacting language, reasoning, and adaptive skills.
Uneven Skill Profile:
Children often display unevenness in their abilities. For example,
they might excel visually or in rote memory but struggle with
problem-solving or understanding abstract concepts. This
unevenness influences their educational needs and intervention
strategies.
Types and Classification
PDD-NOS served as a residual category when other PDD
(now ASD) diagnoses were not met. It included children who
had some but not all features of:
Autistic Disorder (classic autism)
Asperger’s Disorder
Childhood Disintegrative Disorder
Rett Syndrome
With DSM-5, all are now considered under Autism
Spectrum Disorder, rendering the “types” of PDD-NOS
less clinically relevant. Instead, ASD is described with
specific specifiers (language ability, intellectual ability,
associated conditions).
Testing Methods and Examination
Assessment is multidisciplinary, involving:
Clinical interview: Gathering developmental history from
parents, teachers, and caregivers.
Observation: Structured and unstructured settings to note
social, communication, and behavioral features.
Screening tools: Such as the Modified Checklist for Autism
in Toddlers (M-CHAT) for early identification.
Formal diagnostic instruments:
Autism Diagnostic Observation Schedule (ADOS)
Autism Diagnostic Interview-Revised (ADI-R)
Physical and neurological exams are part of the
process to rule out other causes.
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74. Assessment Forms and Procedure
M-CHAT: Completed by parents to identify risk in toddlers.
CARS (Childhood Autism Rating Scale): Rated by clinicians
based on observation and parent interview.
ADI-R & ADOS: In-depth tools administered by trained
specialists; involve direct observation and standardized
questions.
Vineland Adaptive Behavior Scales: Assesses social,
communication, and daily living skills across domains.
Procedure: Generally starts with broad screening, then
targeted assessments, multidisciplinary case conference for
final diagnosis.
Scales, Radiological Imaging & Investigations
Behavioral Scales: CARS, Gilliam Autism Rating Scale
(GARS), Social Communication Questionnaire (SCQ).
Radiological Imaging: MRI or CT scans are sometimes used
to rule out other brain abnormalities but are not diagnostic
for PDD-NOS.
Genetic Testing: May be recommended if syndromic features
or intellectual disability are present.
Metabolic Screening: Done if regression in development or
other red flags are detected.
Differential Diagnosis
When assessing PDD-NOS, clinicians must distinguish it from:
Specific language disorders
Intellectual disability without autism features
Childhood onset schizophrenia
Social (pragmatic) communication disorder
Attention Deficit Hyperactivity Disorder (ADHD)
Sensory processing disorders
A thorough history and multidisciplinary evaluation are
vital.
Treatment
Medical (Non-Surgical)
Medications may be prescribed for associated symptoms
such as irritability (e.g., risperidone), hyperactivity
(stimulants), anxiety (SSRIs), or sleep issues (melatonin).
Supportive treatments include addressing GI problems,
epilepsy, or other medical comorbidities.
74

75. Surgical
Rarely needed and only in case of severe comorbid medical
conditions like refractory epilepsy requiring surgical
intervention.
Psychotherapy Treatment
Applied Behavior Analysis (ABA) is widely used, focusing on
improving communication, social skills, and managing
challenging behavior through structured reinforcement
techniques.
Cognitive-behavioral approaches can be used for older
children to address anxiety and self-regulation.
Behavior Therapy Treatment
Individualized, goal-oriented behavioral plans implemented
at home and school.
Positive behavior supports and social skills groups are
effective.
Occupational Therapy Treatment
Aims to improve self-care, motor coordination, adaptive
functioning, and engagement in daily routines.
Sensory integration therapy may help children with sensory
processing difficulties.
Physiotherapy Treatment
Targeted at improving gross motor skills, balance, posture,
and reducing physical inactivity.
Activities may include balance training, strengthening,
coordination exercises, and promoting independent mobility
when possible.
Speech Therapy Treatment
Essential for both verbal and nonverbal children.
Focuses on language development, alternative
communication methods (AAC), and social pragmatic skills.
Includes use of sign language, symbol boards, or electronic
communication aids as needed.
Psychological Treatment
Involves routine assessment of mood, anxiety, and self-
esteem.
Cognitive and emotional regulation strategies, coping skills,
and parent support programs are recommended.
General Medicine Doctor Treatment
75

76. Monitors growth, general health, vaccinations, and screens
for associated medical problems.
Manages acute illnesses and coordinates referrals to other
specialists as needed.
Counseling
Regular counseling for families to address stress, grief, and
planning for future care needs.
Parent training to enhance coping, communication, and
advocacy skills.
Do’s and Don’ts With Children with PDD-NOS
Do’s
Foster clear routine and predictability in the environment.
Use simple, concrete language and visual supports.
Encourage participation in familiar social and learning
activities.
Celebrate small achievements to boost confidence.
Be patient and understanding of repeat behaviors.
Collaborate closely between parents, teachers, and
therapists.
Don’ts
Avoid sudden changes in routines where possible.
Do not criticize repetitive behaviors but guide gently toward
alternatives.
Don’t overwhelm the child with multiple demands at once.
Never force eye contact or social interaction.
Avoid punitive approaches for behavior problems; use
positive reinforcement.
Trainings
All caregivers and educators should receive training in
autism-friendly teaching and communication strategies.
School staff must be educated about the condition and the
unique needs of each child.
Emergency preparedness (seizure first aid, sensory
meltdown management) training is helpful.
Home Programs
Establish consistent, structured daily routines including
therapy exercises.
Embed learning opportunities in play and routine activities.
Use visual schedules and cues to support understanding.
76

77. Regular feedback and review of progress with therapy and
medical teams.
Government Helps and Schemes (India)
Disability Registration: Under Rights of Persons with
Disabilities Act, 2016, providing access to benefits,
reservations, and concessions.
National Trust Act, 1999: Enables early intervention, legal
guardianship, and access to trained caregivers, respite care,
supported living.
ADIP Scheme: Provides free or subsidized assistive devices
and aids.
Scholarships/Education: Inclusive education incentives, fee
waivers, and scholarships.
Disability Pension: Monthly financial support for children
and adults with recognized disability.
Health Insurance Programs: Certain government schemes
offer health coverage for children with disabilities.
Caregiver Training Programs: Government and NGOs offer
regular parent and caregiver skills training.
Day-care and Special Education Centers: Facilities
subsidized or run by government bodies for therapy and
social integration.
Benefits from Government of India
Monthly disability pension for eligible families.
Access to specialized schools or inclusive education settings.
Provision of aids such as wheelchairs, hearing aids, or
communication boards.
Tax benefits under sections 80DD and 80U for families and
individuals with disability.
Priority in government job placements and reservation in
higher education for individuals with disabilities.
Access to legal rights support and social protection services.
77

78. References:
1. Diagnostic and Statistical Manual of Mental Disorders (DSM) -
5th Edition
2. Handbook of Autism and Pervasive Developmental Disorders
by Fred R. Volkmar, Rhea Paul, Sally J. Rogers, Kevin A.
Pelphrey.
3. Autism and Pervasive Developmental Disorders (Series on
Developmental Neuropsychiatry)by Fred R. Volkmar.
4. Educational and Therapeutic Interventions for Autism and
PDD by Tony Charman .
5. Textbook of Autism Spectrum Disorders by Mary Lou Smith,
Ryan G. Smith.
Journal References for Academic Context
Volkmar FR, Cohen DJ. (1991). Nonautistic pervasive
developmental disorders. Lippincott-Raven.
Carbone A, et al. "The Diagnosis of Pervasive Developmental
Disorder Not Otherwise Specified: A Systematic Literature
Review." Psychiatry Journal, 2023.
Poddar S. "Psychological interventions in pervasive
developmental disorder." Indian Journal of Psychiatry, 2014.
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