Oscar Purugganan, MD, MPH Columbia University Medical Center Department of Pediatrics

1. The Spectrum of Autistic Disorders in ChildrenClinical Presentations and Therapeutic Interventions across the age groups Oscar Purugganan, MD, MPH Columbia University Medical Center Department of Pediatrics

2. Learning Objectives To recognize the clinical presentations of Autism Spectrum Disorders (ASD) across the age groups in children To identify the earliest symptoms of ASDs To identify therapeutic interventions and resources that may be useful for children with ASDs

3. Autism Spectrum Disorder = Pervasive Developmental Disorder

5. Autism Spectrum Disorder Language Repetitive Behaviors Socialization

6. Historical Background Kanner Asperger 1944

9. Epidemiology Prevalence Graph

10. Epidemiology DSM-IV IDEA Prevalence Graph

11. Historical Background Diagnostic and Statistical Manual (DSM) • DSM-III 1980 • DSM-IV 1994 • DSM-V 2013 ….

12. Historical Background Public Laws • PL 94-142 (1975) Education for All Handicapped Children Act – FAPE for all children 3-21 y • PL 99-457 (1986) Part H : incentives for programs for 0-3 y • Renamed Individuals with Disabilities Education Act (1990, 1997, 2004) Part H renamed Part C (Early Intervention Program)

13. What may account for the increase in prevalence of ASD? • Changes in case definition • Increased awareness of professionals and parents • Diagnosis made earlier • More valid diagnostic tools • Diagnostic substitution

14. Fountain, C., King, M., & Bearman, P. (2011). Age of diagnosis for autism. Journal of Epidemiology and Community Health, Volume 65: 503-510

15. Autism Spectrum Disorder Language Repetitive Behaviors Socialization

16. Autism Spectrum Disorder Language Repetitive Behaviors • Onset before 3 years of age Socialization • Impairment in functioning

17. Impairment in social interaction

18. Impairment in communication

19. Restricted and stereotyped patterns of behavior

20. Clinical Symptoms depend on the Age of presentation andSeverity of Symptoms

21. Spectrum

22. Presentations during Toddlerhood to Preschool (18 months- 5 years) • Speech / Language delays • Atypical language e.g. echolalia, scripting, pop-up words • Socialization Issues • Behavioral Issues • Good rote skills • Stereotypies usually appear after 2 years • Atypical Non-symbolic Play • Sensory issues

23. Preverbal Milestones • Response to Name 8-10 months • Follow a point 10-12 months • Protoimperative pointing 12-14 months • Protodeclarative pointing 14-16 months

24. Joint Attention!

25. Presentationduring Infancy/ Early Toddler (<18 months) Early Signs/ Red Flags • No pointing • No showing • Poor eye contact • Poor response to name • Unusually quiet • Decreased reciprocal vocalizations • Regression in social & communication skills

26. Presentations during school-age years or older • Social deficits Lack friends “Everyone is my friend” but could not name one Not picking up on social cues Problems with social boundaries • Pragmatic language deficits Poor give and take in conversation “Lecturing” Very concrete Lack understanding of figures of speech Reading comprehension deficits • Unusual interests Savants/ splinter skills More object than people oriented

27. Asperger Syndrome • Impairment in social interaction • Stereotypic or repetitive patterns of interest – especially topics/ interests • No clinically significant delay in language but pragmatic language is deficient • No clinically significant cognitive impairment

28. Associated conditions • Feeding issues • Sleep issues • Sensory issues • Cognitive Impairment • Epilepsy

29. (2013) DSM-5 • Persistent deficits in social communication and social interaction across context, not accounted for by general developmental delays, and manifest by all three of the following: deficits in social-emotional reciprocity deficits in non verbal communication deficits in developing and maintaining relationships appropriate to developmental level • Restricted, repetitive patterns of behavior, interests, or activities as manifested by two of the following: stereotyped or repetitive speech, motor movements, or use of objects excessive adherence to routines, ritualized patterns of behavior highly restricted, fixed interests hyper or hypo-reactivity to sensory input or unusual interest in sensory aspects of environment • Symptoms must be present in early childhood • Symptoms together limit and impair functioning

30. Diagnostic Evaluation • Medical • Psychological • Speech and Language • Hearing • Occupational therapy/ Physical therapy

31. The cause of Autism is unknown, although, ASDs are believed to be mainly genetic in origin.

32. The cause of Autism is unknown, although, ASDs are believed to be mainly genetic in origin.Environmental factors may modulate phenotypic expression.

33. Genetics of Autism • Probably multiple genes involved Sites on chromosomes X, 2,3,7,15,17,22 seem to be most promising • More common among identical than fraternal twins • More common in boys • If sibling has autism, risk in another child is about 5-6%

34. Syndromes or medical conditions associated with ASD • Fragile X • Tuberous Sclerosis • Fetal Alcohol Syndrome • Angelman Syndrome • Other genetic syndromes

35. Therapeutic Modalities • None curative • Behavioral/ Educational • Applied Behavioral Analysis (ABA) • Floortime/ Greenspan • Treatment and Education of Autistic and Related Communication Handicapped Children (TEACCH)

36. ABA

37. Floortime

38. TEACCH

39. Therapeutic Modalities • Speech/ Language Therapy • Picture Exchange Communication System (PECS) • Augmentative Devices

40. PECS

41. Augmentative devices

42. Therapeutic Modalities • Social Skills training • Occupational Therapy • Pharmacological Treatment • For specific target symptoms: irritability/ aggression/ self-injury hyperactivity/impulsivity/ inattention repetitive behaviors anxiety sleep • Family support / Community resources

43. Complementary and Alternative Medicine (CAM) • Evidence-based? • Randomized double-blind placebo-controlled trials? • Sample size? • Theoretical plausibility? • Effectiveness? • Safety?

44. Complementary and Alternative Medicine (CAM) Effective Yes No Yes Safe No

45. Complementary and Alternative Medicine (CAM) Biological interventions Immunoregulatory interventions IVIG antivirals Detoxification therapies (e.g. chelation) Gastrointestinal treatment secretin/digestive enzymes probiotics gluten/casein free diet Dietary supplements Vitamins A, B6, C, Mg dimethylglycine omega-3 fatty acids

46. Complementary and Alternative Medicine (CAM) Biological interventions Immunoregulatory interventions IVIG antivirals Detoxification therapies (e.g. chelation) Gastrointestinal treatment secretin /digestive enzymes probiotics gluten/casein free diet Dietary supplements Vitamins A, B6, C, Mg dimethylglycine omega-3 fatty acids RDBCT, not effective Not RDBCT, no significant benefit Some studies but little evidence to support or refute No studies; Discouraged

47. Complementary and Alternative Medicine (CAM) Non-Biological Interventions Auditory Integration Behavioral Optometry Craniosacral Manipulation Music Therapy Facilitated Communication

48. Complementary and Alternative Medicine (CAM) Non-Biological Interventions Auditory Integration Behavioral Optometry Craniosacral Manipulation Music Therapy Facilitated Communication RDBCT, not effective Not RDBCT, no significant benefit Some studies but little evidence to support or refute No studies; Discouraged

49. PEDIATRICS Volume 129, Number 5, May 2012

50. PEDIATRICS Volume 129, Number 5, May 2012