![Instruments
•Gold standard instruments like Autism Diagnostic Interview, Autism Diagnostic Observation
Schedule, and Childhood Autism Rating Scale used to diagnose and characterize autistic
phenotypes are expensive and, hence, unaffordable in the Indian set up.
•Two indigenous scales have been validated and made available free of cost, International
Clinical Epidemiology Network Diagnostic Tool for autism Spectrum Disorder (INDT- Autism
Spectrum disorders [ASD]) and the Indian Scale for Assessment of Autism (ISAA).
•The government of India has issued guidelines for using these scales for assessment and
disability certification in autism.
•Indian Autism Screening Questionnaire – 10 items (3-18 years), same dataset as ISAA
•Chandigarh Autism Screening Instrument (CASI) – 37 items(1.5-10 years)
•CASI-Bref – 4 item
•ISAQ- Indian Autism Screening Questionnaire-10 item](https://image.slidesharecdn.com/autismspectrumdisorder-250427072416-c02c169f/85/Autism-Spectrum-Disorder-by-Vaishnavi-Pusapati-pdf-6-320.jpg)
![•Specify if:
•With or without accompanying intellectual impairment
•With or without accompanying language impairment
•Associated with a known medical or genetic condition or
environmental factor, additional code (MeCP2 gene,
fragile X, intrauterine valproate exposure,
•Associated with another neurodevelopmental, mental, or
behavioral disorder, additional code[s].](https://image.slidesharecdn.com/autismspectrumdisorder-250427072416-c02c169f/85/Autism-Spectrum-Disorder-by-Vaishnavi-Pusapati-pdf-18-320.jpg)
Autism Spectrum Disorder by Vaishnavi Pusapati.pdf
- 2. Introduction •Autism is a neurodevelopmental disorder characterized by early-onset persistent impairment in social communication, interaction, and restricted, repetitive pattern of behaviour.
- 4. Statistics •The leading cause of disability among all mental disorders in the less than 5-year age group is autism spectrum disorder in USA. Recent CDC data shows 1 in 36 children 8 years of age •As of 2018, about 1 in 450 children under the age of 10 have autism spectrum disorder in India
- 6. Instruments •Gold standard instruments like Autism Diagnostic Interview, Autism Diagnostic Observation Schedule, and Childhood Autism Rating Scale used to diagnose and characterize autistic phenotypes are expensive and, hence, unaffordable in the Indian set up. •Two indigenous scales have been validated and made available free of cost, International Clinical Epidemiology Network Diagnostic Tool for autism Spectrum Disorder (INDT- Autism Spectrum disorders [ASD]) and the Indian Scale for Assessment of Autism (ISAA). •The government of India has issued guidelines for using these scales for assessment and disability certification in autism. •Indian Autism Screening Questionnaire – 10 items (3-18 years), same dataset as ISAA •Chandigarh Autism Screening Instrument (CASI) – 37 items(1.5-10 years) •CASI-Bref – 4 item •ISAQ- Indian Autism Screening Questionnaire-10 item
- 7. Etiological Variables •Environmental Factors •Toxins; Gene Mutation •Trauma •Diets; Foods •Radiation •Lead •Chemicals in Groundwater •Multifactorial Inheritance •Environmental Factor & Genetic Interaction •Epigenetic factors Genetic •Autosomal dominant/recessive •Sex-linked dominant/recessive
- 8. Psychological theories •A lack of a central drive for coherence, with the consequent focus on dissociated fragments rather than integrated “wholes,” leading to a fragmentary and overly concrete experience of the world. •Deficits in executive functioning, that is, in the capacity for abstracting rules, inhibiting irrelevant responses, shifting attention and profiting from feedback, and maintaining a focus on multiple aspects of information in decision making.
- 9. Heredity Scientists have observed a concordance for autism of about 60% to 90% in monozygotic twins. They have also observed a concordance for autism of about 5% to 10% in dizygotic twins . Heredity or genetic factors are responsible for the 90% of autism cases. Similar results, from family research, show that the percentage of autistic siblings is about 2% to 7%, much higher than the percentage in general population (0.5%).
- 10. •Recent specific findings regarding neuroligins, shank3, contactin associated protein 2, and neurexin 1, and a growing understanding of the biology of the fragile X mental retardation 1 (FMR1) gene have provided the first concrete insights into the molecular and cellular pathology underlying autism. •It is clear that no single gene accounts for a majority of affected individuals.Relative contribution of genes is thought to be quite large, influences other than variation in the deoxyribonucleic acid (DNA) sequence are likely to turn out to be important as well, including epigenetic mechanisms and environmental factors. •One of the most important outcomes of the successful search for autism transcripts will be the light it will shed on nongenetic, potentially modifiable risks. •Evidence of multiple genetic subtypes, Show support for autism gene on chromosome 7, less compelling evidence for gene on chromosome 3,4,11.
- 11. •Increase in peripheral level of serotonin, significance is unclear. •Hyperdopaminergic state of brain explain over activity and stereotyped movement seen in autism. •Dopamine blockers are effective in reducing the stereotyped behavior. •Possibility that endogenous opioid cause social withdrawal and unusual sensitivity to environment. This was rationale for use of naltrexone(opioid antagonist) in treating children with autism.
- 12. Oxytocin and vasopressin (OT-AVP) pathway associated with social behavior in ASD.
- 13. Biomarkers •Elevated serotonin in whole blood, almost exclusively in the platelets. •Because 5-HT is known to be involved in brain development, it is possible that the changes in 5-HT regulation may lead to alterations in neuronal migration and growth in the brain. •Several studies found increased total brain volume in children younger than 4 years of age with ASD, •About age 5 years, however, 15 to 20 percent of children with autism spectrum disorder developed macrocephaly. •Increased size of amygdala in the first few years of life, followed by a decrease in size over time. •The size of the striatum has also been found in several studies to be enlarged in young children with autism spectrum disorder, with a positive correlation of striatal size with frequency of repetitive behaviors.
- 14. •fMRI studies have provided evidence that individuals with autism spectrum disorder have a tendency to scan faces differently. •They focus more on the mouth region of the face rather than on the eye region and rather than scan the entire face multiple times, individuals with autism spectrum disorder focus more on individual features of the face. •In terms of “theory of mind,” fMRI studies find differences in activation in brain regions. •Dysfunction of the mirror neuron system (MNS). MNS thought to be activated during imitation or observation of behaviors •Atypical patterns of frontal lobe activation especially fusiform gyrus have been found in ASD during face processing tasks.
- 15. Placenta research •A placenta with four or more trophoblast inclusions conservatively predicts an infant with a 96.7% probability of being at risk for autism. •Currently, the best early marker of autism risk is family history. Couples with a child with autism are nine times more likely to have another child with autism. •Epigenetic mechanisms are associated •Research on kinesthetic movements while playing video games for early identification.
- 16. Newer issues- Screen time •Increase in screen time is associated with melanopsin- expressing neurons and decreasing gamma-aminobutyric acid (GABA) neurotransmitter, and thus results aberrant behavior, decreased cognitive, and language development. •Virtual autism- exposure to screen time under age 2 years can give rise to symptoms like autism. Case reports suggest complete reversal of ASD symptoms and normal development after screen time was curtailed.
- 17. AUTISM SPECTRUM DISORDER •A. Persistent deficits in social communication and social interaction across multiple contexts, as manifested by the following, currently or by history. •1.Deficits in social-emotional reciprocity, ranging, for example, from abnormal social approach and failure of normal back-and-forth conversation; to reduced sharing of interests, emotions, or affect; to failure to initiate or respond to social interactions.
- 18. •Specify if: •With or without accompanying intellectual impairment •With or without accompanying language impairment •Associated with a known medical or genetic condition or environmental factor, additional code (MeCP2 gene, fragile X, intrauterine valproate exposure, •Associated with another neurodevelopmental, mental, or behavioral disorder, additional code[s].
- 19. Case 1 •PR, 14 yrs male, student of 9th class, normal milestones. •Does not interact with others at school. •Head banging. •Started getting violent thoughts of murder or kidnapping . •Would do strange gesture to prevent bad events from happening •OC symptoms- checking, washing excessively •Wants things in pairs e.g. magazines, scooter. •Would insist that mother should be around. •Would not go to meet relatives. •Initial diagnosis – OCD , later revised to Asperger syndrome.
- 20. Case 2 •2 year old child •Delayed mile stones •No play •Responds to calling •Cries when hungry •Eye contact +, emotional attachment with parents + •Diagnosis- Intellectual disability
- 21. Case 3 •Case 1. GS, 7 years, male child was bought by parents with c/o delayed onset of speech, difficulty in learning, inattention, difficulty in writing, less peer interaction, can not answer back to younger children, poor voice modulation, repeats words, sensory issues, excessive jumping when excited, vocal and facial tics present, eye contact less with teachers •In past had received a diagnosis of mild autism based on CARS •MIQ 92 •Diagnosis – ADHD inattention type
- 22. Case 4 •Case 2- PN, 6 years old female child was brought by parents as she would not sit still, delayed mile stones, speech 2 word sentences at 4-5 years, remains lost in self, laughs without reason, poor in academics, adamant behavior •IQ testing, GDT 110, VSMS 68, MISIC verbal 83 •ISAA score 89 •Borderline intelligence
- 23. Case 5 • A.S, 5 years old male child brought to OPD as he was not speaking adequately, not able to understand much, poor eye contact, poor attention span •Had jaundice at the age of 3 years •Asks for food, plays adequately with other children •Speech was unclear •SQ=52 •On ISAA score 87 Mild autism •Diagnosis- Mild MR
- 24. •Prevalence of ADHD symptoms in individuals with a primary clinical diagnosis of ASD has been reported to be between 13% and 50% in the general population. •When in doubt, the intervention can be started, and a diagnosis can be made later •Similarly, it is difficult to differentiate between intellectual disability and ASD at times, and the comorbidity is very high, around 30%–45%. •Cognitive ability and intellect in autism- needs to be assessed on a battery of tests
- 25. A-B-C APPROACH •Behavior controlled through changing antecedents •Enriching the environment •Limiting the environment •Simplifying the environment •Structuring the environment •Address the child’s sensory needs •Behavior controlled by changing consequences •Operant conditioning •Differential reinforcement •Changes to the reinforcement schedule (Extinction, time out, response cost, and/or overcorrection)
- 26. Sensory Integration deficits and Behavior issues •Hyper/hypo responsiveness to touch (tactile) •hyper/hypo responsiveness to sound (auditory) •atypical responses to visual stimuli (visual) •Doesn’t let touch, wears only soft clothes, wears socks, toe-walking, has to wipe face many times while eating •Keeps rubbing various surfaces, no socks/chappals, likes hugging •Closes ears, cries on hearing loud sounds- whistle, lawn mower, DJ •Keeps making sounds, tapping •Likes to look at flickering lights, fan, running water, pokes own eyes, finger flicking •Shields side of the eyes
- 27. Vestibular and proprioceptive: Movement & Body Position •Become anxious or distressed when feet leave the ground •Avoid climbing or jumping •Avoid playground equipment's •Seek all kinds of movement interfering with daily life •Take excessive risks while playing •Continually seek out all kinds of movement activities •Hung on other people, furniture, objects, even in familiar situations
- 28. Sensory Diet – •Sensory diet means finding the best combination and timing of various sensory inputs to cope with sensory integration dysfunction. •A sensory diet - plan that includes an ordered progression of sensory and sensory- motor activities including a combination of alerting, organizing and calming techniques that fulfill physical and emotional needs. •It helps in improving the attention span, attaining the sitting for learning, reducing the repetitive activities and meltdowns.
- 29. Pharmacological Treatment of symptoms •Repetitive stereotype behavior- No US FDA approved drug, SSRIs may help, Haloperidol, Risperidone, Aripiprazole •Hyperactivity and inattention- Psychostimulants (Methyphenidate)can be given but no US FDA approved drug, clonidine, imipramine can be given •Irritability, aggression, severe tantrums – Atypical antipsychotics are US FDA approved
- 30. •Omega 3 fatty acids- In a meta-analysis (Cheng, 2017)- may improve hyperactivity, lethargy, and stereotypy. No improvement on GAF and social responsiveness. Effect size small •Vitamin D- Two open label trials- efficacy in prevention, some improvement (Cannell, 2017) •Gut microbiota- Probiotics- small studies (Fattoruso, 2019) •Microbiota Transfer Therapy (MTT) that combined antibiotics, a bowel cleanse, a stomach-acid suppressant, and fecal microbiota transplant- study on 18 children who had GI symptoms (Kang, 2019)
- 31. WHO infant guidelines •No screen exposure till 1 year of age
- 32. Under research •Some therapies which are still being studied are— •IV Suramin, •vasopressin receptor analogues, •vasopressin receptor antagonists , •intranasal oxytocin , •TMS
- 33. Thank you