Beyond Screening: Identifying Autism Spectrum Disorders in Primary Care Practice

1. Beyond Screening: Identifying Autism Spectrum Disorders in Primary Care Practice Modified from the Educating Practices in the Community (EPIC) Program for The Child Health and Development Institute Sarah Schlegel, M.D. Developmental-Behavioral Pediatrician, Connecticut Children’s Medical Center Assistant Professor of Pediatrics, University of Connecticut School of Medicine Jennifer Twachtman-Bassett, M.S. CCC-SLP Autism Clinical Specialist and Research Coordinator Connecticut Children’s Medical Center

2. Disclosure Sarah Schlegel and Jennifer Twachtman-Bassett do not have any actual or apparent conflict of interest related to the content of their presentation; they do not have financial interest/arrangement of affiliation with any organizations that could be perceived as conflict of interest in the context of the subject of their presentation.

3. Learning Objectives • Participants will be able to: • Describe three changes to autism diagnosis • Name 2 screening instruments designed for children over the age of 3. • Describe 2 ways to respond to parent concerns regarding autism spectrum disorder • Describe 3 ways to support families when a child receives a formal diagnosis of autism spectrum disorder

4. Autism Spectrum Disorder - DSM V New name for “autistic disorder”, which includes: • Autistic disorder (classic autism) • Asperger’s disorder • Pervasive developmental disorder- not otherwise specified (PDD–NOS) • Childhood disintegrative disorder Diagnostic and Statistical Manual of Mental Disorders, 5th ed. Wash. DC. APA, 2013

5. Autism Spectrum Disorder (DSM-V) Social and communication deficits, must have 3: Limited social/emotional reciprocity Nonverbal communicative behavior Deficits in developing and maintaining relationships Fixed interests & repetitive behavior. Must have at least 2: Repetitive speech, motor movements, and/or use of objects Excessive adherence to routines Highly restricted or fixed interests Atypical sensory responses Symptoms present in early childhood (but may not be fully manifest until social demands exceed limited capacities) Symptoms together limit and impair everyday functioning

6. Autism Spectrum Disorder (DSM-V) Three new “Severity Levels” for ASD: • Requiring very substantial support: • Severe impairments in social-communication functioning • Preoccupations, rituals and/or repetitive behaviors (RBs) interfere with all aspects of functioning. Marked distress when routines are interrupted • Requiring substantial support: • Marked deficits in functioning are apparent even with support • RBs are frequent enough to be obvious to the casual observer and interfere with functioning in many contexts. Distress is apparent when routines are interrupted • Requiring support: • Deficits are noticeable when supports are not in place • RBs cause significant interference in functioning. Resists redirection

7. ICD-10 • Will be implemented October 1, 2014 • Nine different disorders under autism: • F84—PDD • F84.0—Childhood Autism (Kanner autism) • F84.1—Atypical autism • F84.2—Rett Syndrome • F84.3—Other Childhood Disintegrative Disorder • F84.4—Overactive Disorder associated with Mental Retardation and Stereotyped Movements • F84.5—Asperger syndrome • F84.8—Other Pervasive Developmental Disorders (no description given) • F84.9—Pervasive Developmental Disorder, Unspecified (no description given)

8. What about the older child (>4)? Many children are missed by early screening instruments. Designed to catch delays, more able children may not demonstrate delays at early ages Age out: M-CHAT ends at 30 months Subtle symptoms: May not be evident in a short office visit Child may have strong talents / strengths Child may not appear atypical until he/she is seen in the context of a larger group of peers

9. Parent Concerns Warrant Attention Parents continue to frequently report a gap between concerns about their child’s development and a diagnosis of an autism spectrum disorder. (Carbone, Behl, Azor, & Murphy, 2010; Ryan & Salisbury, 2012)

10. “Red Flags”for older children • Difficulty having a back-and-forth conversation • Difficulty understanding / using nonverbal signals (gestures, facial expressions) • Difficulty developing and maintaining friendships with peers • Formal speech • Difficulty understanding humor • Limited imagination and/or pretend play

11. Parents may report… • Bullying • Child has few friends • Child is smart but isolates himself/herself from social situations • Significant anxiety • Obsessive interests and/or behavior • Child is overly social and is rejected by peers • Child “has no common sense” • Child previously did well academically but is now struggling

12. Screening older children (age 4+) Screen if there are parent concerns • Recommend screening to children who exhibit “red flags” • Family history of ASD (siblings, etc.), but passed early screening / evaluation • Concerns by school personnel regarding ASD or related disorder

13. Childhood Autism Spectrum Test (CAST) (Scott, Baron-Cohen, Bolton, & Brayne, 2002) • Recommended on the CDC website • Ages 4-11; 39-item parent questionnaire • Easy to administer • Has been used as a general population screen in research studies • Determines need for further evaluation but does not diagnose • Free and available for use: • Online version: http://psychology-tools.com/cast/ • www.autismresearchcentre.com Need to create an account in order to download

14. Childhood Autism Spectrum Test (CAST) Sample questions 1. Does s/he join in playing games with other children?  5. Is it important to him/her to fit in with the peer group?  6. Does s/he appear to notice unusual details that others miss 7. Does s/he tend to take things literally? 8. When s/he was 3 years old, did s/he spend a lot of time pretending 9. Does s/he like to do things over and over again,in the same way all the time? 11. Can s/he keep a two-way conversation going? 14. Does s/he have an interest which takes up so muchtime that s/he does little else? 20. Is his/her voice unusual (e.g., overly adult, flat, orvery monotonous)? 29. Is his/her social behaviour very one-sided and always on his/her own terms?

16. Billing • 96110 for any developmental screening (e.g. ASQ, CAST, PEDS) done with a formal screening tool • Can be billed on the same day as a well child exam or with other visit • Modifiers 25 and 59 – (distinct procedural service) • Bill follow-up office visits with E&M codes 99212-99215

17. Parent concerns • Red flags Parent completes CAST Screens Negative Clinical staff scores, review results Screens Positive No Concerns Concerns PCP discusses results and concerns with parents No concerns • PCP discusses results • Provides anticipatory guidance • No immediate action needed Further concerns • PCP discusses results / concerns with parents • Refer to Child Development Infoline • Directly refer for further evaluation • Provide anticipatory guidance • Monitor development • Rescreen at next well child visit • Refer to Child Development Infoline

18. Why refer? • Short office visits = insufficient time to diagnose some children • Diagnosis can be complex for some children, but is possible with sufficient assessment (i.e. additional standardized assessment) • Symptoms of more able children with ASD are subtle in young children, but can become more apparent over time. • Research: greater gains with earlier intervention • There is significant symptom overlap with many other disorders, and/or comorbidity

19. When there are Concerns: Open the Conversation “I agree with your concerns about …” “Your answers to the questionnaire told me ______________ • We need to speak further… • I’d like someone to take a closer look at… • This is a “working diagnosis…”

20. Referrals for Comprehensive ASD Evaluation For further consultation: • Connecticut Children’s Medical Center • 860.837.5916 (number for providers) • 860.837.5915 (number for families) • UCONN Dept of Psychology (Storrs) • 860.486.2538 • Yale Child Study Center • 203.785.3420

21. If a child receives a diagnosis of autism spectrum disorder… What are the next steps?

22. Medical Search Strategy The American College of Medical Genetics and Genomics (ACMG) (2010), recommends microarray CMA as a first-line test in the initial postnatal evaluation of individuals with the following: Multiple anomalies not specific to a well-delineated genetic syndrome Apparently nonsyndromic developmental delay/ intellectual disability Autism spectrum disorders (after diagnosis is made) CMA has higher sensitivity than standard G-banded karyotype for submicroscopic deletions and duplications and offers a diagnostic yield of 15-20%. Array-based Technology and Recommendations for Utilization in Medical Genetics Practice for Detection of Chromosomal Abnormalities. Genet Med 12:11:742-745.

23. Educating Families about Microarray • Test method: Blood draw • Can this be combined with other needed tests? • Explain what the test is looking for and possible results parents might expect • Be prepared to explain any abnormal results to families • Support families if they refuse or want to postpone test

24. Guidelines for Ordering Microarray • Obtain pre-authorization if the family has private insurance • Encourage families to check with their insurance company • Check if test is only covered at specific labs (Husky) • Husky coverage guidelines: http://www.huskyhealthct.org/providers/provider_postings/policies_procedures/Genetic_Testing-DD_ASD_and_MR.pdf

25. Referrals for Additional Evaluation may be Recommended by the Diagnostician • Psychological • OT (sensory processing) • Speech therapy • Feeding Team • AAC Clinic • Behavioral health / Psychiatric • Behavioral issues; Comorbid d/o; differential diagnosis • Medication • Neuropsychological Evaluations may be medically-based or school-based PCP can facilitate connections for families

26. The First Step: Establishing Services • The parent needs to call the school district’s special education department or office of special services • The family will need the diagnostic report—they may need to get this from the PCP • Parents can expect the school to set up an evaluation or diagnostic placement for the child • The school may create an Individualized Education Plan (IEP) using the educational classification of “autism” or a 504 plan that specifies accommodations for the child

27. Services Schools May Provide • Self-contained classroom • Child may attend a regular classroom with special education support and/or a one-on-one paraprofessional • Resource room support • Therapeutic services (speech, OT, PT, etc.) • Social skills services • Behavioral supports / behavior plan • Counseling services with social worker or school psychologist • Accommodations for homework / assignments • Vocational services / assistance Services are provided based upon educational necessity

28. Overview of Therapeutic Approaches • Applied Behavioral Analysis (ABA)-based: • Discrete Trial Training (DTT) (adult-directed) • Pivotal Response Treatment (PRT) (child-directed) • Picture Exchange Communication System (PECS) • Relationship-based: • Floortime / Difference Relationship Model (DIR) • Relationship Development Intervention (RDI) • Social Communication / Emotion Regulation / Transactional Supports (SCERTS) • Incorporates components of PRT, TEACCH, Floortime, and RDI • TEACCH / Structured teaching

29. Families May Request… • A letter to establish Medicaid eligibility or other disability services • A letter to support the establishment of or increase in school-based services • Referral / Prescription for outpatient evaluation and services • Therapy (OT, PT, speech) • Behavioral health (outpatient and/or in-home services) • Additional evaluations • Recommendations for / Referral to community-based services • Assessment of the child’s need for medication • Insight regarding: • Specialized diets • Nutritional supplements

30. Ongoing Role for PCP • Include feedback from others (teachers, families) • Maintain medical record • Use a care team, including others who provide services to the child • Continue monitoring health and development • Note changes in school performance, peer relationships, and behavior and share notes with other providers • Make specialist referrals as needed • Coordinate with specialists • Connect family to family support options

31. What is Care Coordination? • A patient- and family-centered, assessment-driven, team-based activity designed to meet the needs of children and Youth while enhancing the care giving capabilities of families • Care coordination addresses interrelated medical, social, developmental, behavioral, educational, and financial needs to achieve optimal health and wellness outcomes.

32. What is a Medical Home? • A community-based primary care setting which provides and coordinates high-quality, planned, family-centered health promotion, acute illness care, and chronic condition management. • This setting provides an excellent starting point for connecting children and families to the larger arena of health and community services

33. Family Support Options CT Child Development Infoline 211 or 800.505.7000 • Local Special Education Department (children > 3) • CT Medical Home Initiative (5 statewide regions) www.ct.gov ; search “Autism” to find region. • CT Family Support Network (CTFSN): www.ctfsn.org ; 1.877.376.2329 • Department of Developmental Services (DDS) / Division of Autism Services: www.ct.gov/dds/ ; 860.418.6078 • Autism Services & Resources Connecticut (ASRC): www.autismconnecticut.org ; 1.888.453.4975 • Autism Speaks: www.autismspeaks.org ; 1.888.288.4762

35. Resources at CTAAP • “Connecticut Guidelines for a Clinical Diagnosis of Autism Spectrum Disorder” • “Connecticut Collaborative to Improve Services for Children and Youth with Autism Spectrum Disorder” • Referral letter

36. Web Resources • http://www.gaaap.org/HCS&Surveillance.htm • AAP coding fact sheet: http://coding.aap.org/content.aspx?aid=10423 • http://www.gaaap.org/HSC&Surveillance/aap.coding%20fact%20sheet.6.17.08.pdf