1. Thomas D Carver DO, FAAP Medical Director NICU Trinity Health

2.  I have no financial disclosures for this presentation.  http://www.trinityhealth.org/pediatrics http://www.trinityhealth.org/pediatrics

4. Objectives  After this presentation you should have an understanding of the Incidence of Autism Spectrum Disorders.  You will have an understanding of the tests used to screen for ASD.  You will know what steps to take if a child fails an autism screen.

5. History of Autism  The Expression of Emotion in Man and Animals  1872 book by Charles Darwin  2/3 of all communication is by facial expression or gesturing

6. Autism  From the Greek word Autos (self)  First used 1911  Presents with a wide range of symptoms, skills and levels of disability  Wide variety in strengths as well

7. History of Autism  Eugen Bleuler around 1911  One group of symptoms of schizophrenia  1940’s Leo Kanner* children with emotional or social problems  Hans Asperger* Autistic psychopathy  1950’s refrigerator mother or refrigerator parents*

8. Autism  1960-1970’s separated from schizophrenia  Treatment was focused on LSD, electric shock and behavioral change technique  1980’s and 90’s focus was on behavioral therapy and highly structured learning environments

10. Autism Spectrum Disorder  A neurobiological medical condition that effects the structure and function of brain development  Begins in utero  Impairs social interaction, verbal and non-verbal communication and is very often associated with repetitive behaviors

11. ASD  Qualitative impairment in reciprocal social interaction  Qualitative impairment in communication  Restrictive, repetitive and stereotyped patterns of behavior

12. Etiology of ASD  Genetic mechanisms are complex  Environmental factors may modulate phenotypic expression.  Chromosomes 2,3,6,7,13,15,16,17 and 22

13. Impairment in Social interaction  Impairment in non-verbal behavior such as eye contact or use of gestures  Lack of social emotional reciprocity  Failure to develop age appropriate peer relationships  Lack of spontaneous sharing of interest, achievements or enjoyment

14. Communication  Absent/delayed language  Inability to sustain a conversation  Stereotypic or repetitive use of language  Lack of make-believe, social imitative play

15. Restrictive/Repetitive Behaviors  Restricted interests, abnormal in focus or intensity  Inflexible routines  Pre-occupation with parts of objects  Stereotypic motor mannerisms  Insistence on sameness

17. ASD subtypes  Idiopathic  secondary

18. Secondary Autism  Fragile X  Tuberous Sclerosis  Phenylketonuria  Fetal Alcohol Syndrome  Angelman Syndrome  Rett Syndrome  Smith-Lemli-Opitz Syndrome  Downs Syndrome

19. ASD  Found in all racial, ethnic and socioeconomic groups.  4.5 times more common in Boys  Prevalence in North America, Europe and Asia is 1-2%  2014 National Health Interview Study prevalence for ASD was 2.24%

20. Incidence of Autism  1:68  Determined by CDC  Data collected from 12 sites

21. Map of collection states

22. Northern Lights

23. WHO  Any child with abnormalities picked up on routine surveillance  Any child with parental or other caregiver concerns  All children at 18 and 24 months*

24. Surveillance Any child with parental concerns of development or hearing Sibling with ASD* Other caregiver concern Physician or provider concern

25. When to Screen  6 months*  12 Months*  18 Months  24 Months  48- 60 Months*

26. UC San Diego Study  12 months  CSBS DP Infant Toddler Checklist  10,479 infants screened at 137 practices  184 failed screening  32 ASD  56 Language delays  9 DD  36 other

31. What Screen to Use  STAT Screening tool for Autism in Toddlers 24-36 Months  MCHAT-R/F 18-36 months  CSBS Communication and Symbolic Behavior Scales  PEDS Parents Evaluation of Developmental Status  ASQ Ages and Stages

32. MCHAT-R/F  Robins et al  16,071at 18 and 24 months MCHAT-R/F  Score >3 initially and > 2 on follow up had a 47.5 % risk for ASD and 94.6% risk for any developmental delay  ASD diagnosis accomplished 2 years earlier than national average

33. CAST  Childhood Autism Screening Test  Used at 4 or 5 year and 9 year

34. AAP  Developmental screening at 9, 18, 24 and 30 months.  Social-Emotional screening 9,18,24,30 months  Autism screening at 18 and 24 months

35. My Practice 2,4,6 months Edinburgh 6 months ASQ Dev 9 months ASQ Dev, hearing screen* 12 months ASQ SE, hearing screen* 15 months ASQ Dev 18 months ASQ SE, MCHAT-r/F 24 months ASQ Dev, MCHAT-r/F

36. My Practice  30 months ASQ SE*  36 months ASQ Dev, ASQ SE  48 months ASQ SE, CAST  5 year CAST*  6-10 year PSC, CAST at age 9  11 year and over PSC youth edition  14 -18 year CRAFFT*

37. Other screening as needed  Depression  ADHD

38. Developmental Disabilities  Intellectual Disability, Downs Syndrome, Speech Language Disability, Cerebral Palsy, Vision impairments, Hearing impairments, Autism, ADHD, Learning Disabilities. Genetic syndromes  17% of children under 18.

39. Developmental Disabilities  1 in 6 in US  Autism prevalence increased 289.5 %  ADHD prevalence increased 33%

40. Early Diagnosis  Gross motor delay at 6 months  Fine motor delay  12 month Infant Toddler Checklist  Facial tracking at 6 months

43. Screening tool  M-CHAT-r/F  Sensitivity 0.854  Specificity 0.993  Time to complete 10 min  Time to score 1 min

52. Where  Physicians  County Health Visits  Daycare and preschool

53. NDGPIC

54. USPSTF  Grade I  Not enough information to make recommendation for universal screening  AAFP

55. Why screen  Early intervention:  May lead to finding other conditions  Parents want answers and help

56. How often  18-24  May use at 16-48 months  Anytime parents have concerns

57. Medical Screening  Pregnancy history  Thorough 3 generation family history  Physical exam to include head circumference and woods lamp  Hearing screen  Chromosomes, Human chromosomal microarray*  MTHFR

58. Diagnostic Clinic  Psychologist  Physician  OT  Speech Path  Clinic director  Secretary

59. Referrals  Hearing screen  Infant development  Autism Diagnostic clinic  Parent support group  School system*  Private therapy*

60. DSM-V

61. Severity LevelSocial Communication Restricted, Repetitive Behaviors Level 3 “Requiring very substantial supports” Severe deficits in verbal and non- verbal social communication skills social communication sills cause severe impairments in functioning, very limited initiation of social interactions, and minimal response to social overtures from others. For example, a person with few words of intelligible speech who rarely initiates interaction, and, when he or she does, makes unusual approaches to meet needs only and responds to only very direct social approaches. Inflexibility of behavior, extreme difficulty coping with change, or other restricted/repetitive behaviors markedly interfere with functioning in all spheres. Great distress/difficulty changing focus or attention. Level 2 “Requiring substantial supports” Marked deficits in verbal and nonverbal social communication skills; social impairments apparent even with supports in place; limited initiation of social interactions; and reduced or abnormal responses to social overtures form others. For example, a person who speaks simple sentences, whose interaction is limited to narrow special interests, and who has markedly odd nonverbal communication. Inflexibility of behavior, difficulty coping with change, or other restricted/repetitive behaviors appear frequently enough to be obvious to the casual observer and interfere with functioning in a variety of contexts. Distress and/or difficulty changing focus or action. Level1 “Requiring support” Without supports in place, deficits in social communication cause noticeable impairments. Difficulty initiating social interactions, and clear examples of atypical or unsuccessful responses to social overtures of others. May appear to have decreased interest in social interactions. For example, a person who is able to speak in full sentences and engages in communication but whose to and fro conversation with others fails, and whose attempts to make new friends are odd and typically unsuccessful. Inflexibility of behavior causes significant interference with functioning in one or more contexts. Difficulty switching between activities. Problems of organization and planning hamper independence.

62. ND Autism Data Base  Improve services and support for individuals with ASD  Inform public policy decisions  Improve community awareness  Assist in identifying risk factors

85. Developmental Screening  PDSQ

86. Social emotional Screening