Autism spectrum disorder By Dr .Ajithraa

Includes Autism spectrum disorders, its epidemiology, diagnostic changes, etiology, clinical features and management

1. AUTISM SPECTRUM DISORDERS Chairpersons: Prof.Dr.Amutha , MD( Psy ). Asst prof.Dr.C.Kavitha , MD( Psy ),DCH. Presentor : Dr.Ajithraa JK,MD 1 St year PG .

2. OBJECTIVES OF TOPIC To know the definition, nosology and change in classifications. Brief review of historical aspects. Etiological factors Diagnostic criteria and clinical features Differential diagnosis. To know the various diagnostic tools. Management methods.

3. DEFINITION Autism spectrum disorder previously called as pervasive developmental disorders includes a range of conditions characterized by early onset of severe delay and deviance in the development of social and communicative and unusual response to the environment (repetitive behaviors , difficulties with change, and unusual sensitivity to the inanimate environment .)

4. Autism spectrum disorders

5. HISTORY

6. Early infantile autism 1943 - he reported on 11 children who shared impairments in social relatedness, abnormal communication, and a desire for sameness. According to Kanner , the presence of “ extreme aloneness ” from birth distinguished these patients from those with childhood schizophrenia, who had a period of normal development prior to the onset of symptoms. Kanner later termed this condition as “ early infantile autism

7. COMPARATIVE NOSOLOGY

8. DSM III R

9. DSM IV & IV TR Defined on the basis of behavioral features and age of onset ( age of onset must be before 3 years ). Both ICD-10 and DSMIV-TR  conceptually identical. The disorder was returned to axis I.

10. DSM V

11. SPECIFIERS

12. SEVERITY

13. ICD - 9 category of psychoses with onset in childhood included the subgroup of infantile autism, among others. mistaken impression that autism was related to adult schizophrenia

14. ICD 10 childhood autism(F 84.0 ) atypical autism(F84.1 ) Rett syndrome(F84.2) Other childhood disintegrative disorder(F84.3 ) Overactive disorder with mental retardation and stereotyped movements(F84.4 ) Asperger syndrome(F84.5) Other pervasive developmental disorder(F84.8 ) pervasive developmental disorder unspecified(F84.9)

15. ICD 11 Autism spectrum disorder without disorder of intellectual development and with mild or no impairment of functional language(6A02.0) Autism spectrum disorder with disorder of intellectual development and with mild or no impairment of functional language(6A02.1) Autism spectrum disorder without disorder of intellectual development and with impairment of functional language(6A02.2) Autism spectrum disorder with disorder of intellectual development and with impairment of functional language(6A02.3)

16. Autism spectrum disorder without disorder of intellectual development and with absence of functional language(6A02.4) Autism spectrum disorder with disorder of intellectual development and with absence of functional language(6A02.0) Other specified autism spectrum disorder(6A02.Y) Autism spectrum disorder unspecified (6A02.Z)

17. PREVELANCE 1 st epidemiological study- Victor Lotter in 1966  4.5 in 10,000 children among 8- to 10-year-old population of Middlesex, London Disorder Prevelance Autistic disorder (DSM IV TR) 8 cases per 10,000 children (0.08 percent )(synopsis) Autistic disorder 1% population .(DSM 5 and Synopsis) Autism 1 in 50( tasman ) Autism 13 per 10000(0TP) Rett 1 per 10,000 girls(OTP) Childhood disintegrative disorder 1.9 per 100,000 (OTP) PDD-NOS /atypical autism 1 per 150 (OTP)

18. Increased prevelance are due to,

19. Sex distribution males have a lower threshold for brain dysfunction than females more severe brain damage would be required to cause autism in a female 4 : 1

20. REFRIGERATOR MOTHERS Mothers are cold and aloof Respond abnormally to normal behaviors of child Negativity and rejection  perceived hostility social withdrawl

21. Executive dysfunction hypothesis Lack of central drive for coherence Difficulties abstracting rules inhibiting irrelevant responses shifting attention profiting from feedback maintaining information on line – underlie the social and communicative disabilities in autism.

22. Theory of mind hypothesis the child’s inability to attribute mental states such as beliefs and intentions to others. This results in lack of social reciprocity in communication and social contact. 

23. Sally Anne false belief test

24. ENACTIVE MIND HYPOTHESIS: Focuses on early emerging and highly conserved mechanisms of socialisation that precede the advent of mentalising abilities which culminate in the development of joint attention and perspective tasking skills.

25. Genetic factors

26. Fragile X syndrome X linked recessive. 2 to 3 % of autism.

27. FMRP  RNA-binding protein  interact with multiple transcripts and to repress gene translation  contribute to neuronal plasticity through involvement in the process of long-term depression (LTD) at the synapse, and to help regulate the function of group I metabotropic glutamate receptors ( mGluR ). Loss of FMRP leads to increased mGluR5 signaling activity and adversely affects synaptic plasticity .

28. Tuberous sclerosis Autosomal dominant. 2% of autism.

29. POSTMORTEM AND NEUROIMAGING STUDIES The first MRI study (1990)  total tissue volume of individuals in the autism to be about 6 percent larger than the control group . Subsequent studies  size increase includes both gray matter and white matter

30. INFANT BRAIN IMAGING STUDY

31. POSTMORTEM STUDY FINDINGS 20 brains analyzed (2 to 20 years of age) 50 % autistim children lose synaptic pruning. RAPAMYCIN – MtoR inhibitor

32. Neuroanatomical changes Reductions in cortical thickness with age in ASD . Prefrontal cortex and the anterior temporal lobe - reduced surface area Limbic system – decreased neuronal size, decreased dendritic arborization , increased neuronal packing Amygdala enlargement.

33. DECREASED PURKINJE CELLS IN CEREBELLUM

34. fMRI findings

35. Eye tracking studies

36. Neurochemistry

37. Core features

38. PERSISTENT DEFICITS IN SOCIAL COMMUNICATION AND INTERACTION : Lack of reciprocal social skills and spontaneous nonverbal social interactions . may not develop a social smile lack the anticipatory posture for being picked up by a caretaker. poor eye contact Atypical attachment anxiety when their usual routine is disrupted . lack of conventional back and forth conversation, fewer shared interests, and fewer body and facial gestures during conversations. frequently more skilled in visual-spatial tasks than in tasks requiring skill in verbal reasoning . lack of social reciprocation .

39. RESTRICTED,REPETITIVE PATTERNS OF BEHAVIOR, INTERESTS, AND ACTIVITIES . exploratory play is restricted and muted . Toys manipulated in a ritualistic manner. do not show the level of imitative play enjoy spinning, banging, and watching water flowing. Exhibit a strong attachment to a particular inanimate object . have increased rates of self-stimulatory and self-injurious behaviors . Stereotypies, mannerisms, an d grimcing Changes evoke panic, fear, or temper tantrums.

40. Associated physical characteristics

41. Language disturbances Language delay Difficulty in meaningful sentences Minimal babbling Nonsense syllable Pronoun reversal Echolalia hyperlexia

42. Intellectual disability 30 percent 30 to 50 %  mild to moderate 40 to 50%severe to profound Problem with verbal sequencing and abstraction Visuospatial and rote memory preserved Irritability Aggression Self injurious behaviors Temper tantrums

43. Response to sensory stimuli

44. Medical comorbidities Gastro intestinal infections Febrile seizures Respiratory infections Autoimmune disorders

45. Differential diagnosis Social communication disorder Childhood onset schizophrenia Intellectual disability with autism disorders Congenital deafness or hearing impairment. Psychosocial deprivation

46. Course and prognosis lifelong with a highly variable severity and prognosis. IQs > 70 with average adaptive skills, who develop communicative language by ages 5 to 7 years  best prognoses . Early intensive behavioral interventions  profound positive impact. Ritualistic and repetitive behaviors  poor prognosis The prognosis of a given child is generally improved if the home environment is supportive

47. Diagnostic tools Autism behaviour checklist Autism diagnostic interview –Revised Autism diagnostic observation schedule Asperger syndrome diagnostic scale Autism quotient Asperger syndrome diagnostic interview Autism screening questionarre Childhood autism rating scale Childhood autism screening test Childhood autism rating test Checklist for autism in toddlers Communication and symbolic behaviour scales development profile infant toddler check list Diagnostic interview for social and communication disorders Gilliam asperger disorder scale Social responsiveness scale

48. Investigations

49. Treatment goals Target core behaviors to improve social interactions, communication, broaden strategies to integrate into schools, develop meaningful peer relationships, and increase long-term skills in independent living. To develop skills in social conventions, increase socially acceptable and prosocial behavior with peers, and to decrease odd behavioral symptoms . Reduction of irritable and disruptive behaviors that may emerge in school and at home and may exacerbate during transitions.

50. Psycho social interventions

51. Early Intensive Behavioral and Developmental Interventions UCLA/ Lovass model Intensive and manualized intervention primarily utilizes techniques derived from applied behavior analysis, administered on a one-to-one basis for many hours per week. A therapist and a child will work on practicing specific social skills, language usage, and other target play skills, with reinforcement and rewards provided for accomplishments and mastery of skills. Early Start Denver Model (ESDM) administered in naturalistic settings such as in day care, at home, and during play with other children. Parents are typically taught to be co-therapists focus - on developing basic play skills and relationship skills , and applied behavior analysis techniques are integrated into the interventions. applied within the context of the child’s daily routine.

52. Parental training approaches Pivotal response training Hanen more than words program

53. Social skills training Guided practice in initiating social conversation, greetings, initiating games, and joint attention. Emotion identification and regulation - recognizing and learning how to label emotions in given social situations learning to attribute appropriate emotional reactions in others social problem-solving techniques

54. Behavioral intervention Behavioral therapy reducing some repetitive behaviors in children and adolescents with autism spectrum disorder. Cognitive behavior therapy are fewer controlled trials of this treatment there are at least two published studies in which CBT was used to treat repetitive behavior in individuals with autism spectrum

55. Interventions for comorbid symptoms Neurofeedback To reduce symptoms of ADHD anxiety, increased social interaction by providing computer games or other games in which the desired behavior is reinforced, while the child wears electrodes that monitor electrical activity in the brain. The aim is to influence brainwave activity to prolong or produce electrical activity present during the desired behaviors . still under investigation .. Insomnia management changing the parents behavior removal of reinforcement and attention for being awake, leading to a gradual extinction of the “staying awake ” behavior . massage therapy before bedtime between the ages of 2 years and 13 years-improvement in falling asleep and a sense of relaxation

56. TEACCH Originally developed at the University of North Carolina at Chapel Hill in the 1970. Involves structured teaching based on the notion that children with ASD have difficulty with perception. incorporates many visual supports and a picture schedule to aid in teaching academic subjects as well as socially appropriate responses. The physical environment is arranged to support visual learning, and the day is structured to promote autonomy and social relatedness.

57. COMPUTER BASED INTERVENTIONS Let’s face it game Virtual cafe

58. PHARMACOLOGICAL INTERVENTIONS

59. Rett syndrome a progressive condition that has its onset after some months of what appears to be normal development.. Commonly occurs in girls Mecp2 gene Progressive encephalopathy Poor muscle coordination loss of purposeful hand movements, which are replaced by stereotypic motions, such as hand- wringing,previously acquired speech; psychomotor retardation; and ataxia Head circumference decelerates – microcephaly Loss of language

60. Seizures EEG abnormalities Hyperventilation Apnea wheelchair-bound, with muscle wasting, rigidity, and virtually no language ability. Treatment is symptomatic. Physiotherapy - muscular dysfunction Anticonvulsants- seizures. Behavior therapy, along with medication-self-injurious behaviors .

61. Childhood disintegrative disorders marked regression in several areas of functioning after at least 2 years of apparently normal development. Heller’s syndrome and disintegrative psychosis, described in 1908. unknown cause associated with other neurological conditions, including seizure disorders, tuberous sclerosis, and various metabolic disorders. Onset - 1 to 9 years, but in most, the onset is between 3 and 4 years. a child displays restlessness, increased activity level, and anxiety before the loss of function. loss of communication skills, marked regression of reciprocal interactions, and the onset of stereotyped movements and compulsive behavior Affective symptoms To receive the diagnosis, a child must exhibit loss of skills in two of the following areas: language, social or adaptive behavior ; bowel or bladder control; play; and motor skills. Treatment same as autism

62. Aspergers syndrome Markedly abnormal nonverbal communicative gestures, the failure to develop peer relationships at the expected level. a normal IQ and more competencies in social skills Treatment aims to promote social communication and peer relationships Self-sufficiency and problem solving techniques

63. PDD NOS severe, pervasive impairment in communication skills or the presence of restricted and repetitive activities and associated impairment in social interactions generally have less impairment in language skills and more self awarenes .  treatment is same as autism