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Approach to Autism

Approach to Autism. ASD Definition. Autism is a neurodevelopmental disorder characterized by: 1. Qualitative impairment in reciprocal social interaction. 2. Qualitative impairment in communication. 3. Restricted, repetitive, and stereotyped behavior, interests, and other activities.

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Approach to Autism

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  1. Approach to Autism

  2. ASD Definition • Autism is a neurodevelopmental disorder characterized by: • 1. Qualitative impairment in reciprocal social interaction. • 2. Qualitative impairment in communication. • 3. Restricted, repetitive, and stereotyped behavior, interests, and other activities.

  3. DSM IV vs DSM V Autistic Disorder Asperger Syndrome PDNOS Disintegrative Disorder Autism Spectrum Disorder

  4. DSM V • Persistent deficits in social communication and interactions, as manifest by ALL of the following deficits in: • 1. Social-emotional reciprocity • 2. Nonverbal communication behaviors used for social interaction; • 3. Developing and maintaining relationships appropriate to developmental level (beyond caregivers)

  5. Restricted, repetitive patterns of behavior, interests, and activities, as manifested by at least TWO of the following: 1. Stereotyped or repetitive speech, motor movements, or use of objects 2. Excessive adherence to routines, ritualized patterns of verbal or nonverbal behavior, or excessive resistance to change 3. Highly restricted, fixated interests 4. Hyper- or hypo-reactivity to sensory input or unusual interest in sensory aspects of environment

  6. Epidemiology • Median world wide prevalence 62/10 000.1 • Male to Female ratio - 4.3:1 • “The recent upward trend in rates of prevalence cannot be directly attributed to an increase in the incidence of the disorder, or to an ‘epidemic’ of autism. There is good evidence that changes in diagnostic criteria, diagnostic substitution, changes in the policies for special education, and the increasing availability of services are responsible for the higher prevalence figures.” 2

  7. Etiology • Genetics • One child in a family with ASD rates as high as 18.7%. Double if 2 or more children.3 • mutations in SHANK3, 11q23, 19q13 4 • Obstetric Complications • Valproate 5, SSRI 6 Infection (rubella) • Toxic Exposure, Parental Age, Maternal Antibodies

  8. Differential Diagnosis • Attention-deficit/hyperactivity disorder (ADHD) plus anxiety • Nonverbal learning disability • Obsessive compulsive disorder • Anxiety plus language delay (with/without sensory issues) • Cognitive delay plus anxiety • Social (Pragmatic) Communication Disorder

  9. Diagnosis • Developmental Milestones

  10. Diagnosis • AAP Screening Guidelines: Identifying Infants and Young Children With Developmental Disorders in the Medical Home: An Algorithm for Developmental Surveillance and Screening.

  11. Definitions 1. Surveillance - the process of recognizing children who may be at risk of developmental delays. 2. Screening - the use of standardized tools to identify and refine that recognized risk. 3. Evaluation - a complex process aimed at identifying specific developmental disorders that are affecting a child.

  12. Surveillance 9, 18, 30 month visits Screening Evaluation

  13. Developmental Surveillance 1. Eliciting and Attending to the Parents’ Concerns 2. Maintaining a Developmental History 3. Making Accurate and Informed Observations of the Child 4. Identifying the Presence of Risk and Protective Factors 5. Documenting the Process and Findings

  14. 1. Eliciting and Attending to the Parents’ Concerns • “Do you have any concerns about yourchild’s development? Behavior? Learning?” • Recognize that parental concerns mandateserious attention. • Absence of parental concern does not preclude the possibility of serious developmental delays.

  15. 2. Maintaining a Developmental History • “What changes have you seen in your child’s development since our last visit?” • Age specific queries • Delay • Deviations • Dissociation • Regression

  16. 3. Making Accurate and Informed Observations of the Child Careful physical and developmental examination

  17. 4. Identifying the Presence of Risk and Protective Factors Risks: Environmental, genetic, biological, social, and demographic factors Protective Factors: - Strong connections within a loving, supportive family. - Opportunities to interact with other children and grow in independence. - Environment with appropriate structure.

  18. 5.Documenting the Process and Findings Electronic Medical Records - Specific form for developmental findings or plans. Emerging Technology - Automated developmental risk assessments within the waiting room through computer-interpreted paper forms or information kiosks

  19. By 9 months -Many motor skills and sensory - developmental issues (vision and hearing) can be reliably identified -Precursors of serious developmental delays are present -Early communication skills are emerging: (lack of eye contact, communicative pointing, response to name may suggest risks for language delays and/or ASD) By 18 months -Delays in communication and language are evident and significant -Mild motor delays not apparent at 9 months may now be evident -M-CHAT should be administered for ASD By 30 months -Most motor, language and cognitive problems can be identified with screening instruments

  20. Screening

  21. General Developmental Screening Tools

  22. Parents’ Evaluation of Developmental Status(PEDS) Parent-interview form; designed to screen for developmental and behavioral problems 0 - 8 years old 10 items 2-10 minutes sensitivity: 0.74–0.79 (moderate) specificity: 0.70–0.80 (moderate)

  23. Ages & Stages Questionnaires (ASQ) Parent-completed age-specific questionnaires screening communication, gross motor, fine motor, problem-solving, and personal adaptive skills; results in pass/fail score for domains sensitivity: 0.70–0.90 (moderate to high)specificity: 0.76–0.91(moderate to high) 4–60 month old 30 items 10–15 min

  24. Battelle Developmental Inventory Screening Tool, 2nd ed (BDI-ST) Directly administered tool; designed to screen personal-social, adaptive, motor, communication,and cognitive development; results in pass/fail score and age equivalent. sensitivity: 0.72–0.93 (moderate tohigh) specificity: 0.79–0.88 (moderate) 0 to 95 months 100 items 10–25 min

  25. Bayley Infant Neurodevelopmental Screen (BINS) Directly administered tool; series of 6 item sets screening basic neurologic functions; receptive, expressive and cognitive processes results in risk category (low, moderate, high risk) sensitivity: 0.75–0.86 (moderate)specificity: 0.75–0.86 (moderate) 3–24 months 11–13 items 10 min

  26. Autism Screening Tools

  27. Modified Checklist for Autism in Toddlers(M-CHAT) Parent-completed questionnairedesigned to identify children at risk of autism from the general population 16–48 months 23 items 5–10 min sensitivity: 0.85–0.87 (moderate) specificity: 0.93–0.99 (high)

  28. Pervasive Developmental Disorders Screening Test-II(PDDST-II), Stage 1-Primary Care Screener Parent-completed questionnaire designed to identify children at risk of autism from the general population 12-48 mo 22 items 10-20 minutes sensitivity: 0.85-0.92 (moderate to high)specificity: 0.71–0.91(moderate to high)

  29. Social Communication Questionnaire (SCQ) Parent-completed questionnaire designed to identify children at risk of ASD from the generalpopulation; based on items in the ADI-R >4 y 40 items 5–10 min sensitivity: 0.85 (moderate) specificity:0.75 (moderate)

  30. Evaluation

  31. Developmental Evaluation - Aimed at identifying the specific developmentaldisorder or disorders affecting the child - Providing further prognostic information and allowing prompt initiation of specific and appropriateearly childhood therapeutic interventions. -Interdisciplinary team:Developmental Pediatricians, child psychiatrists, child neurologist in conjunction with early childhood educators, child psychologists, SLP, OT, PT, audiologists, social workers.

  32. Medical Evaluation • - Vision screening, hearing evaluation, review of newborn metabolic screening and growth charts • - Based on history, physical exam, risk factors: include brain imaging, electroencephalogram (EEG), genetic testing, and/or metabolic testing • - Underlying etiology identified in ~ 1/4 cases of children with developmental delay: • - (50%) in children with GDD and motor delays • - (5%) in children with isolated language disorders 8

  33. THE END

  34. References • 1. Elsabbagh, M., Divan, G., Koh, Y.-J., Kim, Y. S., Kauchali, S., Marcín, C., Montiel-Nava, C., Patel, V., Paula, C. S., Wang, C., Yasamy, M. T. and Fombonne, E. (2012), Global Prevalence of Autism and Other Pervasive Developmental Disorders. Autism Res, 5: 160–179. doi: 10.1002/aur.239 • 2.Fombonne E, Quirke S, Hagen A (2009) Prevalence and interpretation of recent trends in rates of pervasive developmental disorders. Mcgill J Med 12: 73. • 3. Ozonoff S, Young GS, Carter A, Messinger D, Yirmiya N, Zwaigenbaum L, et al. Recurrence risk for autism spectrum disorders: a Baby Siblings Research Consortium study. Pediatrics. Sep 2011;128(3):e488-95. • 4. Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, Fauchereau F, et al. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet. Jan 2007;39(1):25-7 • 5. Christensen J, Grønborg TK, Sørensen MJ, Schendel D, Parner ET, Pedersen LH, et al. Prenatal valproate exposure and risk of autism spectrum disorders and childhood autism. JAMA. Apr 24 2013;309(16):1696-703. • 6..Croen LA, Grether JK, Yoshida CK, Odouli R, Hendrick V. Antidepressant use during pregnancy and childhood autism spectrum disorders. Arch Gen Psychiatry. Nov 2011;68(11):1104-12. • 7.Identifying infants and young children with developmental disorders in the medical home: an algorithm for developmental surveillance and screening. Pediatrics. 2006;118(1):405–420; Johnson CP, Myers SM, and American Academy of Pediatrics Council on Children With Disabilities.Identification and evaluation of children with autism spectrum disorders. Pediatrics. 2007;120(7):1183–1215. • 8. Shevell MI, Majnemer A, Rosenbaum P, Abrahamowicz M. Etiologic determination of childhood developmental delay. Brain Dev. 2001;23:228–235.

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