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Autism spectrum disorder
- 1. AUTISM SPECTRUM DISORDER BYDR SHIVANANDA MD PEDIATRICS AVMCH & R, PUDUCHERRY
- 2. DEFINITION • Complex Neurodevelopmentaldisorder • Key features impairment in Social communication Social interaction accompanied by restricted repetitive behaviours
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- 4. CHANGES FROM DSMIV TO DSM5 • Currently DSM 5 is used for diagnosis of ASD • Removal of the diagnostic subcategories (Asperger’s disorder, childhood disintegrative disorder, &Rett’s disorder) • Change in the terminology from pervasive developmental disorder-not otherwise specified (PDD-NOS) to Autism spectrum disorder
- 5. Continued...... • Reduction indiagnostic domains from 3 to 2 by merging social & communication domain into single category • Inclusion of sensory processing abnormalities for diagnosis • Classification of ASD based on severity
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- 7. ETIOLOGY • Etiology ofASD remains complex and multifactorial with interplay of Genetics Epigenetics Environmental factors
- 8. Continued..... • Various theoriesproposed to explain pathophysiology of ASD * The theory of mind * The theory of impeded brain plasticity *Excitation &inhibition dysregulation in neuroapsesnal synapses *Dysfunction in mirror neuron system
- 9. DSM 5 CRITERIAFOR ASD • PERSISTENT DEFICIT IN SOCIAL COMMUNICATION AND SOCIAL INTERACTION ACROSS MULTIPLE CONTESTS currently or history • Restricted , repetitive patterns of behaviour, interests , or activities • Symptoms must be present in early developmental period( may not manifest until social demand exceeds until capacity,& may masked by ; learning strategies in later life)
- 10. Continued.... • Symptoms shouldcause clinically significant impairment in social, occupational (or) other important areas of current functioning • These disturbances are not better explained by intelectual developemental disorder (or) global developemental delay
- 11. PERSISTENT DEFICIT INSOCIAL COMMUNICATION AND SOCIAL INTERACTION ACROSS MULTIPLE CONTESTS currently or history include : • Deficit in social emotional reciprocity • Deficit in non verbal communicative behaviours • Deficit in maintaining , developing, &understanding relationship
- 12. SOCIAL EMOTIONAL RECIPROCITY (reducedsocial interaction) • Ranges from activity avoidance or reduced social response • Lacking ability to initiate or sustain an interaction i.e. *May not respond when his name is called *May exhibit limited showing (or) sharing behaviour *May prefer solitary play *May avoid attempts by others to play *May not participate in activities that require taking turns & trouble with rules
- 13. DEFICIT IN NONVERBAL COMMUNICATIVE BEHAVIOURS • USED FOR SOCIAL INTERACTION • Reduced eye contact and pointing gesture • Reduced awareness or response to eye gaze (or) pointing of others • Feels difficulty in engaging in groups
- 14. Restricted, Repetitive patternsof behavior , interests, or activities (AT LEAST 2 OF THE FOLLOWING) • Stereotyped or repetitive motor movements, use of objects, or speech • Insistence on sameness, inflexible adherence to routines, or ritualized patterns or verbal nonverbal behavior • Example: lining up of materials, repetitive phrases or questioning, repetitive movements – flapping • Must sit in same seat, be first in line, difficulty in transitioning between activities like play ground to class, difficulty with changes in routine like substitute teacher
- 15. Continued.... • Highly restricted, fixated interests that are abnormal in intensity or focus • Hyper or hypo reactivity to sensory input or unusual interests in sensory aspects of the environment • Really likes unusual objects, hyper focused on particular interest, play with limited range of toys, limited range of interests • Over sensitive to sensory inputs such as smell, noise, texture, may hate certain foods or odours, feel distress after hearing some sounds, may refuse to wear certain dresses
- 16. COMMON CO-OCCURING CONDITIONS INAUTISM SPECTRUM DISORDERS • INTELLECTUAL DISABILITY • MOTOR ABNORMALITIES • SLEEP DISORDERS • ANXIETY • DEPRESSION • GASTROINTERSTINAL PROBLEMS • AGGRESSIVE BEHAVIOURS • SELF INJURIOUS BEHAVIOURS • PICA • DEPRESSION • ADHD
- 17. DIFFERENTIAL DIAGNOSIS • LANGUAGEDISORDER • HEARING LOSS • SOCIAL COMMUNICATION DISORDER • INTELLCTUAL DISABILITY OR GLOBAL DEVELOPMENTAL DELAY • ADHD • LANDAU KLEFFNER SYNDROME(LKS)
- 18. SCREENING • SCREENING ISDONE WHEN THERE IS INCREASED RISK FOR ASD SUCH AS a child with an older sibling who has ASD, or concern for possible ASD • Screening can be done by parent checklist or direct assessment • Most frequently used screening tool is THE MODIFIED CHECKLIST FOR AUTISM, REVISED / FOLLOWUP (MCHAT-R/FU)
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- 20. CONTINUED...... • Can beused from age 16 to 30 months • For items 2,5,&12 YES indicates ASD risk • For remaining items NO indicates ASD risk • LOW RISK – if score is 0 – 2; if child is <24 months screen after second birthday. No further action required unless surveillance indicates risk for ASD
- 21. Continued.... • Medium risk– 3 to 7 score. If MCHAT Score is 2 or above the child screened positive. Action required is refer child for diagnostic evaluation and eligibility evaluation for early intervention. • High risk – 8 to 20 score. Refer immediately for diagnostic evaluation and eligibility evaluation for early intervention
- 22. ASSESSMENT • INCLUDES DIRECTOBSERVATION to evaluate social skills & behaviour • Autism Diagnostic Observation Shedule, Second edition (ADOS-2) • Autism Diagnostic observation schedule, toddler module (ADOS-T) • The Childhood Autism Rating Scale, second edition (CARS-2) is 15 item direct clinical observation instrument that can assist clinician in the diagnosis of Autism
- 23. Medical and GeneticEvaluation of Children With Autism Spectrum Disorder • Physical examination: dysmorphic physical features Muscle tone and Reflexes Head circumference Wood lamp Examination for tuberous sclerosis • Diagnostic testing: Chromosomal micro array (CMA) in all individuals fragile X DNA test in males Audiology evaluation Lead test in children with pica
- 24. Continued.... Additional targeted Genetictesting • MECP2 sequence in females • PTEN mutation testing if head circumference > 2.5 SD above the mean • MECP 2 deletion or duplication testing in males with significant developmental regression , drooling, respiratory infection, and hypotonia
- 25. Additional targeted diagnostictesting • EEG in children with seizures, staring spells, or developmental regression • Brain MRI in children with microcephaly, focal neurologic findings, or developmental regression • Metabolic testing in children with hypotonia, seizures, hearing loss, ataxia and coarse facial features
- 26. Treatement & Management •The primary treatment for ASD is done out side the medical setting includes developmental and educational programming • The most important therapy is intensive behavioural therapies • Earlier age at initiation of treatment and higher intensity of treatment –better out come • Programme must be individualized
- 27. Continue.... • Behavioural approachesbased on the principles of applied behavioural analysis- teaching of skills in traditional behavioural framework, careful data collection, analysis, and adjustment of treatment • Educational approaches such as The Treatment and Education of autistic and communication Handicapped children (TEACCH) – structured teaching & adjustment of environment according to individual needs
- 28. Continued.... • Speech andlanguage therapy • Augmentative communication approaches by using pictures and icons • Social skill programs • For some high school children training in life skills and vocational skills for maximizing independence in adulthood
- 29. Pharmacology • There arecurrently no medications that treate the core symptoms of ASD • Medications can be used to target specific co occurring conditions or symptoms • For Hyperactivity and/or inattention- Selective norepinephrine reuptake inhibitors, & alpha 2 agonists • For Anxiety – selective sertonin reuptake inhibitors • For Irritability – Atypical antipsychotics • For Insomnia - Melatonin
- 30. OUTCOME • Autism spectrumdisorder is a life long condition • Many adults with ASD are socially isolated, lack of gainful employment, or independent living • Have higher rates of depression and anxiety
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