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Autism spectrum disorder By Dr .Ajithraa
- 1. AUTISM SPECTRUM DISORDERS Chairpersons: Prof.Dr.Amutha, MD(Psy). Asst prof.Dr.C.Kavitha, MD(Psy),DCH. Presentor: Dr.Ajithraa JK,MD 1St 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.)
- 5. HISTORY Eugen Bleuler introduced the word autism Leo kanner- autistic disturbances of affective content
- 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. Hans asperger autistic psychopathy Lorna Wing- Aspergers syndrome
- 8. Andreas Rett- Rett syndrome Bengt Hagberg and colleagues Disorders of empathy - Gillberg
- 9. COMPARATIVE NOSOLOGY Viewed as continuum of schizophrenia DSM I &II Infantile autism DSM III
- 10. DSM III R Based on Developmen t concerns 3 categories Includes autistic disorder and PDD NOS Multi axial placement 16 criteria
- 11. 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.
- 12. DSM V
- 15. SPECIFIERS With or without intellectual disability Asso with a known genetic or medical or environmental factor With catatonia Asso with another neurodevelopment or mental or behavioral disorder With or without language impairment
- 16. SEVERITY
- 17. 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
- 18. 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)
- 19. 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)
- 20. 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)
- 21. PREVELANCE 1st epidemiological study- Victor Lotter in 19664.5 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)
- 22. Increased prevelance are due to, Increased use of fertility treatments; interactions between immune abnormalities in mother or child air and environment pollutants such as heavy metals
- 23. 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
- 24. REFRIGERATOR MOTHERS Mothers are cold and aloof Respond abnormally to normal behaviors of child Negativity and rejection perceived hostility social withdrawl
- 25. 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.
- 26. Theory of mind hypothesis the childs inability to attribute mental states such as beliefs and intentions to others. This results in lack of social reciprocity in communication and social contact.
- 27. Sally Anne false belief test
- 28. 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.
- 29. Genetic factors 50 % autism in index child in families with 2 or more ASD Family studies 1)36% monozygotic 0% dizygotic 2)96% monozygotic 27% dizygotic Twin studies
- 30. Fragile X syndrome X linked recessive. 2 to 3 % of autism.
- 31. 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.
- 32. Tuberous sclerosis Autosomal dominant. 2% of autism.
- 34. Other genes mutations in two X-linked neuroligins (NLGN3 and NLGN4; Xq13 and Xp22.33, respectively) missense mutations in SHANK3 oxytocin (OXTR;3p25p26) and arginine vasopressin 1a (AVPR1a; 12q14 15 Missense mutations of the Dlx2 (2q31.1) and Dlx5 (7q21.3)homeobox transcription En2 homeobox transcription factor (7q36 the methyl-CpG- binding protein 2 (MeCP2; Xq28) causes Rett syndrome. serotonin transporter gene (SLC6A4, SERT; 17q11 Missense mutations in the L- type (CACNA1C, Cav1.2;12p13.3) and the T-type (CACNA1H, Cav3.2) calcium channels sodium channel genes (SCN1A; 2q24;SCN2A; 2q23q24.3) Chromosomes2,7, 16 and 17
- 35. Maternal antibodies due to embryonal tissue damage. Immunological factors Advanced maternal and paternal age maternal gestational bleeding gestational diabetes First-born baby. Prenatal factors umbilical cord complications birth trauma, fetal distress, SGA,LBW low 5-minute Apgar score, congenital malformation, ABO blood group system or Rh factor incompatibility hyperbilirubinemia. Perinatal factors
- 36. 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
- 38. INFANT BRAIN IMAGING STUDY National study done prospectively on at risk baby siblings of youth with autism first brain MRI- between 3 and 6 months of age repeated at regular intervals up until 24 months of age Results - axonal fibers had a blunted development in ASD between 6 and 24 months of age white matter microstructural abnormalities at 7 months of age fiber bundles associated with visual orienting and with the ability to disengage attention. locate brain circuits that appear to underlie a sticky attention DTI - significant fiber network inefficiencies in the brains of toddlers with ASD at 24 months of age
- 39. POSTMORTEM STUDY FINDINGS 20 brains analyzed (2 to 20 years of age) 50 %autistim children lose synaptic pruning. mTor hyperactivity Synaptic failure Blockage of autophagy ASD Lack of synaptic pruning Abundance of synapse seizures RAPAMYCIN MtoR inhibitor
- 40. 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.
- 41. DECREASED PURKINJE CELLS IN CEREBELLUM
- 42. fMRI findings
- 46. Core features
- 47. 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.
- 48. 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, and grimcing Changes evoke panic, fear, or temper tantrums.
- 50. Language disturbances Language delay Difficulty in meaningful sentences Minimal babbling Nonsense syllable Pronoun reversal Echolalia hyperlexia
- 51. 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
- 52. Instability of mood- crying spells or laughing Hyperactivity and inattention Insomnia 44 to 83% Precocious skills- rote memory,hyperlexia
- 53. Response to sensory stimuli Over respond to some stimuli Under respond to other stimuli
- 54. Medical comorbidities Gastro intestinal infections Febrile seizures Respiratory infections Autoimmune disorders
- 55. Differential diagnosis Social communication disorder Childhood onset schizophrenia Intellectual disability with autism disorders Congenital deafness or hearing impairment. Psychosocial deprivation
- 56. 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 yearsbest 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
- 57. 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
- 58. Investigations diffuse and focal spikes, paroxysmal spike-and-wave patterns, multifocal spike activity, and a mixed discharge EEG Not indicated Required only in specific conditons NEUROIMAGING Tuberous sclerosis Fragile X syndrome Genetic screening
- 59. 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.
- 60. Psycho social interventions Early intensive behavioral and developmental intervention BI and CBT Educational approaches Intervention for comorbid symptoms Social skill approaches
- 61. 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 childs daily routine.
- 62. Parental training approaches Pivotal response training Hanen more than words program
- 63. 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
- 64. 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
- 65. 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
- 66. 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.
- 67. COMPUTER BASED INTERVENTIONS Lets face it game Virtual cafe
- 68. PHARMACOLOGICAL INTERVENTIONS Risperidone 0.5mg to 1mg Side effects: weight gain and increased appetite; metabolic side effects such as hyperglycemia, prolactin elevation, and dyslipidemia; Aripiprazole 5 to 15 mg included sedation, dizziness, insomnia, akathisia, nausea, and vomiting. Olanzapine weight gain and sedation.
- 69. Impulsivity inattention and hyperactivity Methyphenid ate 0.25 to 0.5 mg /kg guafanacine clonidine atomoxetine
- 71. 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
- 72. 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.
- 73. Childhood disintegrative disorders marked regression in several areas of functioning after at least 2 years of apparently normal development. Hellers 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
- 74. 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
- 75. 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