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

2. 1. To recognize the clinical presentations of Autism Spectrum Disorders (ASD) across the age groups in children 2. To identify the earliest symptoms of ASDs 3. To identify therapeutic interventions and resources that may be useful for children with ASDs

5. Autism Spectrum Disorder Repetitive Behaviors Repetitive Behaviors Language Socialization

6. 1944 KannerAsperger

9.  Prevalence Graph

10. IDEA DSM-IV

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

12. 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.  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.Age of diagnosis for autism Journal of Epidemiology and Community Health, Volume 65: 503-510

15. Autism Spectrum Disorder Repetitive Behaviors Repetitive Behaviors Language Socialization

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

20. Clinical Symptoms depend on the Age of presentation and Severity of Symptoms

22.  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.  Response to Name8-10 months  Follow a point10-12 months  Protoimperative pointing12-14 months  Protodeclarative pointing14-16 months

24. Joint Attention!

25.  No pointing  No showing  Poor eye contact  Poor response to name  Unusually quiet  Decreased reciprocal vocalizations  Regression in social & communication skills

26.  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.  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.  Feeding issues  Sleep issues  Sensory issues  Cognitive Impairment  Epilepsy

29.  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.  Medical  Psychological  Speech and Language  Hearing  Occupational therapy/ Physical therapy

33.  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.  Fragile X  Tuberous Sclerosis  Fetal Alcohol Syndrome  Angelman Syndrome  Other genetic syndromes

35.  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.  Speech/ Language Therapy Picture Exchange Communication System (PECS) Augmentative Devices

40. PECS

41. Augmentative devices

42.  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.  Evidence-based? Randomized double-blind placebo-controlled trials? Sample size? Theoretical plausibility?  Effectiveness?  Safety?

44. Effective YesNo Yes Safe No YesTry? Caution!No

45. 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. 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. Non-Biological Interventions Auditory Integration Behavioral Optometry Craniosacral Manipulation Music Therapy Facilitated Communication

48. 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

52.  Early language skills  Higher cognitive skills  Higher maternal education/ non-minority

53.  American Academy of Pediatrics  Center for Disease Control and Prevention  Autism Speaks

54. Resource Guide

55. THANK YOU.