1. + Physician Assessment of Child Developmental Problems and Relationships to Early Intervention and School Programs Jeffrey Okamoto M.D. Medical Director Hawaii Department of Health Developmental Disabilities Division; Department of Pediatrics John A. Burns School of Medicine

2. + Learning Objectives 1. Understand the role of the physician in evaluating common child developmental disabilities. 2. Illustrate the importance of genetic testing in informing parents about their children with developmental conditions. 3. Elaborate on the intersection of physicians, early intervention, and school programs around children with developmental and behavioral concerns.

3. + Format Two scenarios – You, the audience is the “doctor” – so please ask questions and I’ll role play the parent/patient Try to figure out what is going on with the child so we can provide proper treatment and supports This presentation is for you, we can digress some to topics of interest to you I have a few slides about significant issues after each scenario

4. + Scenario 1 2 year old girl only eats certain foods Please ask me questions! (I’m the mother). Also a 4 year old brother is here. This girl has a medical condition…Try to figure out what is is

5. + Questions about what is going on She only likes chocolate chip cookies of a certain brand, and milk, or juice

6. + Exam She doesn’t say any words She enjoys playing with the picnic basket toys She wrings her hands occasionally She is well dressed and well groomed She doesn’t have good eye contact with you or her mother Her four year old brother talks and tries to interact with her, but she doesn’t Eyes, Mouth, Heart, Lungs, Abdomen, Skin, Strength, Tone all normal Cannot examine her ears because of non-cooperation

7. + Differential Diagnoses What do you think she has?

8. + Supports This is her diagnosis: ____________________________ How can we help a two year old with problems in development?

9. + If you are looking at the handout before the session… Don’t look at the Next Few Slides Until We Have Finished the “Session”

10. + Possibilities (Among Many) Autism Spectrum Disorder Dysphagia (risk for aspiration) Global Developmental Delay Hearing Loss and Language Delay Unusual caregiving practices - >Reactive Attachment Disorder

11. + DSM-5 The Diagnostic and Statistical Manual of Mental Disorders is one of the most important references for clinicians to make diagnoses Has mental health diagnoses, but also a variety of neurodevelopmental diagnoses No information about treatment Current version is the DSM-5 This changed from DSM-IV TR in May 2013

12. + DSM-5 Under the DSM-5: for an Autism Spectrum Disorder diagnosis requires a person to exhibit three deficits in social communication and at least two symptoms in the category of restricted range of activities/repetitive behaviors.

13. + DSM-5 In addition to the diagnosis, each person evaluated is also described in terms of: any known genetic cause (e.g. fragile X syndrome, Rett syndrome), level of language and intellectual disability and presence of medical conditions, such as seizures, anxiety, depression, and/or gastrointestinal (GI) problems.

14. + Autism Spectrum Disorder and Rett Syndrome Current estimate from the CDC is that 1 in 68 children has been identified with autism Five times more common in boys Reported to occur in all racial, ethnic and socioeconomic groups Rett Syndrome – only in girls – slowing of development, distinctive hand movements, loss of purposeful use of hands Possible seizures, intellectual disability and problems with walking

15. + Hearing Loss

16. + Reactive Attachment Disorder Often seen in children adopted from other countries, especially if in a orphanage with only a few adults for many infants/toddlers Can be seen in families where the parents are severely incapacitated because of recreational drug use or other problem Can resemble autism or developmental delay or other conditions

17. + Child Birth to Three with Delay Early Intervention Program (Free) Also possibly: Early Head Start It is important to identify these children (“Child Find”) to start these services

18. + Scenario 2 5 year old boy “failing school” Please ask me questions! (I’m the father or the child – direct the question to one of us) This boy has a medical condition…Try to figure out what it is

19. + Information He has not learned how to write letters or to read even simple words

20. + Exam His face is longer than wide He has a cluttering kind of speech. He answers questions appropriately but simply (one word). He appears happy No problems with his head, eyes, ears, nose, mouth, neck, heart, lungs, abdomen, muscles, skin or reflexes.

21. + Differential Diagnosis What do you think he has?

22. + This is his diagnosis: _________________________ How can we help him?

23. + Possibilities ADHD Behavioral Rating Scales in a variety of contexts Intellectual Disability Definition Adaptive Functioning Etiologies Learning Disabilities

24. + Fragile X Syndrome Most common inherited genetic condition causing intellectual disability- estimated 1 in 5000 males Can affect females, but they have milder symptoms Diagnosed using a blood test for Fragile X

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26. + Testing and Supports Psychoeducational Testing - Use in determining strengths and weaknesses IQ testing Achievement Testing IDEA and the IEP process

27. + Child Three Years or Older with Delays or Condition Special Education Medical Support SSI Medicaid/Waiver Program

28. + Conclusions Children can have a variety of developmental issues – some are environmental, some are medical conditions that the child are born with or acquire Genetics increasingly can give us answers to why a person has a developmental problem Supports are available for children with developmental issues

29. + Contact information E-mails: jeffrey.okamoto@doh.hawaii.gov jokamoto@hawaii.edu