Autism Spectrum Disorder.pptx asd definition spectrum

Autism ppt

1. CHAIRPERSON : DR. PARAMJEET SINGH SIR MODERATOR : DR. VINAY JAKHAR BOSS PRESENTER : DR. SHIKHA CHOUDHARY

2. INDEX Introduction History Epidemiology Etiopathogenesis Other disorders in the spectrum Diagnosis & Clinical features Assessment tools Comorbidities Differential Diagnosis Treatment

3. INTRODUCTION Autism spectrum disorder, previously known as the pervasive developmental disorders, is , characterized by a wide range of impairments in social and communication and restricted and repetitive behaviors.   Derived from Greek word ’autos’ meaning self . Cognitive model of autism includes metarepresentational theory (i.e., Theory of mind), weak central coherence model, and executive functioning models. Theory of mind is the ability to attribute mental states to oneself and others.  

4. The DSM-5 folds all subcategories of the condition into one umbrella diagnosis of autism spectrum disorder (ASD)

5. EPIDEMIOLOGY PREVALENCE The first epidemiological study of autism was conducted by Victor Lotter in 1966, who reported a prevalence rate of 4.5 in 10,000 Median prevalence rate of about 8.7 cases per 10,000 children (0.08 percent ). Because of the delay between onset and diagnosis, the prevalence rates increase with age. According to WHO it is estimated that worldwide 1 in 160 children has an ASD. In recent studies estimated prevalence of ASDin India ranges from 0.15% to 1.01%. SEX DISTRIBUTION Four times more common in boys than in girls. In clinical samples, girls with autism spectrum disorder more often exhibit intellectual disability than boys

6. ETIOLOGY It includes : Psychosocial theories Biological theories Immune theories Genetic factors Perinatal factors Neuroanatomical & Neurochemical

7. PSYCHOLOGICAL THEORIES Emotional factors might be involved in the pathogenesis of autism. The emotional model refers to lack of innate ability to interact emotionally with others. The condition was always caused by the experience of a “REFRIGERATOR” mother who was not resAs children with autism were followed, various factors suggested a biological basis of the condition. Inter subjectivity model refers to impaired formation/coordination of self-other representations. BIOLOGICAL THEORIES These included the high rates of mental retardation and seizure disorders and the recognition that various medical and genetic conditions were sometimes associated with autism. Responsive to the child's emotional needs

8. G enes that may contribute to autism spectrum disorder are present on chr omosome 2, 7,16,17

9. SYNDROME Fragile X syndrome, X-linked recessive disorder - present in 2 to 3 percent of individuals with autism spectrum disorder The fragile X mutation typically involves a triplet repeat of CGG in the regulatory domain of the gene FMR1 Clinical features - intellectual disability, gross and fine motor impairments, an unusual facies , and diminished expressive language ability. Behavioral difficulties include attention problems, impulsivity, and anxiety. Tuberous sclerosis, characterized by multiple benign tumors, autosomal dominant, is found in up to 2 percent of children with autism spectrum disorder . BIOMARKERS Abnormal signaling in the 5-HT system (elevated platelet serotonin) The mT0R (mammalian target of Rapamycin ) -linked synaptic plasticity mechanisms, and alterations of the GABA inhibitory system.

10.   1. Persistent Deficits In Social Communication and Interaction. may not develop a social smile older babies may lack the anticipatory posture for being picked up by a caretaker. Less frequent and poor eye contact. may not differentiate the most important persons in their lives parents, siblings, and teachers may not react strongly when left with a stranger compared to others. often display extreme anxiety when their usual routine is disrupted.

11. By the School age , observable deficit in spontaneous play with peers. a lack of conventional back and forth conversation, fewer shared interests, and fewer body and facial gestures during conversations . an impaired ability to interpret the emotional state of others around them (’ theory of mind’ }. generally desire friendships, and higher functioning children may be aware that their lack of spontaneity and poor skills in responding to the emotions and feelings of their peers are major obstacles in developing friendships.

12. 1. Disturbances In Language Development and Usage. Is characteristic of more severe subtypes of autism spectrum disorder . Have significant difficulty putting meaningful sentences together, even when they have large vocabularies . In the first year of life, a typical pattern of babbling may be minimal or absent . Some children vocalize noises- -clicks, screeches, or nonsense syllables in a stereotyped fashion, without a seeming intent of communication. Words and even entire sentences may drop in and out. They use a word once and then not use it again for a week, month or years. Speech may contain echolalia, both immediate and delayed, or stereotyped phrases that seem out of context. Frequent pronoun reversals are present. A child with autistic disorder might say “You want the toy” when he wants it. About 50% of autistic children never develop useful speech. Some of the brightest children show a particular fascinaton with letters and numbers .

13. 2 Intellectual Disability . About 31percent of children have Intellectual Disability 3.Irritability . Irritability includes aggression, self injurious behaviors, and severe temper tantrums. Occurs during transition from one activity to another, sit in a classroom setting, or remain still when they desire to run around. In children with intellectual deficits, aggression may arise unexpectedly without an obvious trigger, and self-injurious behaviors such as head banging, skin picking, and biting oneself may also be noted.

14. The Ministry of Social Justice and Empowerment (Department of Empowerment of Disabilities) released the INCLEN Tool for the assessment of ASD on April 25, 2016, to be uniformly followed for the assessment of autism in India. Inbuilt in the tool, is a scale called Indian Scale for assessment of Autism, which not only gives cutoff scores but also severity indices and percentage disability, which helps certify and is in keeping with the new Rights of Persons with Disability Act

15. COMORBIDITIES

16. Attention Deficit Hyperactivity Disorder : It the most common comorbidity affecting almost 1 in every 3children with ASD, much higher than1 in 6 among non-ASD siblings. 2 . Learning disability : It presents in almost 23.5% of children with ASD. This may impact their ability to learn new skills, understand complex information and communicate. 3. Intellectual Disability: 21.7% of ASD children have intellectual disability. They present with global impairments in both verbal and nonverbal areas according to their mental age.

17. To improve social interactions, communication, broaden strategies to integrate into schools Develop meaningful peer relationships Increase long-term skills in independent living

18. 4. Applied behavioral analysis (ABA) – ABA is probably the most widely used intervention for children as well as adults with autism. It focuses on improving specific behaviors initially using discrete trials to teach simple skills, then progressing to more complex skills and complex behaviors. It is helpful in a wide variety of skills, namely, social skills, communication, reading, and academics as well as adaptive learning skills, such as fine motor dexterity, hygiene, grooming, domestic capabilities, punctuality, and job competence. Ideally, more than 20 h per week, under the age of 4 is recommended. ABA also helps in minimizing negative behaviors. In autistic adults, ABA can help with memory,relationships and cognitive strength

19. Emerging Targeted Treatments with a Possible Role in ASD Bumetanide is a well-established loop diuretic that works by inhibiting sodium–potassium-chloride co-transporters, namely, NKCC1 and NKCC2. Bumetanide has been purported as a potential treatment in autism due to its inherent chloride-related antagonist efects which is linked to GABAergic inhibition [93]. Bumetanide has been shown to reduce broad ASD symptomatology in children following a 3-month treatment course in 2 placebo-controlled randomized controlled trials . Both of these trials used outcomes that are screening tools for ASD, namely, the Childhood Autism Rating Scale (CARS). Another open-label trial of 6 children with severe ASD and intellectual disability showed parent-reported improvement in communicative abilities of all children after 3 months of bumetanide

20. Trofinetide Insulin like growth factor 1 (IGF1) is considered an emerging treatment for ASD in animal and cellular models in ASD . Trofnetide is an analogue of the amino-terminal tripeptide of IGF1, and it has been studied in patient groups of ASD subtypes . Trofnetide is glycyl-L-2-methylprolylL-glutamic acid, and it was studied in a controlled phase trial in 82 children with Rett syndrome ages 5 to 15 years, and signifcant benefit was found in the high-dose group (200 mg/kg/day) compared to placebo Arbaclofen , also called STX209, is a selective ɣ- aminobutyric acid type B receptor agonist that is the R- enantiomer of racemic baclofen . For many subtypes of ASD, there is a GABAB deficit and arbaclofen has rescued the behavioral deficits including social deficits in the mouse models of idiopathic ASD

21. Oxytocin (OXT) is a neuropeptide synthesized in the hypothalamus that plays a critical role in social functioning. Extant literature has shown that OXT enhances social processing in typically developing adults (enhanced eye contact, better emotion recognition in faces) immediately after its administration There have been generally positive results of OXT in adults with ASD, with trials showing improvements in repetitive behaviors, social reciprocity, and emotion recognition Anavex 2–73 (AV 2–73; Blarcamesine ) is a sigma 1 receptor agonist that works between the endoplasmic reticulum and the mitochondrial membrane to normalize calcium dysregulation , oxidative stress, and mitochondrial dysfunction which is seen in many forms of ASD

22. Complementary and Alternative Medicine (CAM) Approaches Safe interventions that have been applied to target both core and associated behavioral features include : music therapy, to promote communication and expression; and yoga, to promote attention and decrease activity level. Melatonin reduces sleep-onset latency in children that is deemed safe and shown to be efficacious Other agents with unknown efficacy include vitamin C, multivitamins, essential fatty acids, and the amino acids carnosine and carnitine .    

23. References Synopsis of Psychiatry- 11 th edition Kaplan and Sadocks Comprehensive textbook of Psychiatry, 10’h Edition. An Update on Psychopharmacological Treatment of Autism Spectrum Disorder Ramkumar   Aishworiya  · Tatiana  Valica  · Randi Hagerman Bibiana   published online: 14 January 2022 , Rutter’s Child and Adolescent Psychiatry 6 th edition. IPS Clinical Practical Guidelines for Management of Psychiatric disorders in Children and Adolescents 2019. Harris J. Leo Kanner and autism: a 75-year perspective. International Review of Psychiatry. 2018 Jan 2;30(1):3-17. Asokan S, Meera SS, Shivashankar N. INCLEN Diagnostic Tool for the assessment of Autism Spectrum Disorder: A new tool in the speech-language pathologist's armoury . Journal of Indian Speech Language & Hearing Association. 2016 Jan 1;30(1): 7 Autism Spectrum Disorder – World Health Organization .