Autism Spectrum Disorder

Objectives:

1. Define DSM-V criteria for ASD and identify early warning signs and symptoms.
2. Review the proper use and scoring of Autism screening tools (e.g., MCHAT-FU, RITA-T)
3. Review the differential diagnosis of ASD, so that other autism-associated disorders or medical problems are not overlooked.
4. Review therapies for ASD and become familiar with resources for making referrals to appropriate evaluations/services (including Early Intervention)
5. Understand the process of developing individualized education plans in schools and parents’ rights to ensure patients receive proper services.

Articles:

• DSM-V Criteria for ASD
• Identification, Evaluation, and Management of Children with Autism Spectrum Disorder (Pediatrics, 2020)
• Clinician’s Guide to Autism (Peds in Review, 2014)
• Autism Spectrum Disorder: Surveillance and Screening in Primary Care (UpToDate)
• Validation of the Modified Checklist for Autism in Toddlers, Revised with Follow-up (M-CHAT-R/F) (Pediatrics, 2014): Children whose total score was ³3 initially and ³2 after follow-up had a 47.5% risk of being diagnosed with ASD and a 94.6% risk of any developmental delay or concern. The M-CHAT-R detects ASD at a higher rate compared to the M-CHAT while also reducing the number needing the follow-up.
• Primary Care Autism Screening and Later Autism Diagnosis (Pediatrics, 2020): Study finding although the majority of children are screened for ASD, there are disparities in among those that complete screening. Screening is less likely to occur in Hispanic children. Children who screen positive are more likely to be diagnosed with ASD at a younger age compared to those who screen negative.

Screening Tools and Online training Modules:

• AAP Surveillance and Screening Algorithm: Autism Spectrum Disorder
• M-CHAT-R/F: Freely available online level 1 screening tool recommended for ASD-specific screening for at all well-child checks at 18 and 24-30 months. Parents/caregivers fill out this questionnaire which is scored by a provider. Level 1 testing.
• RITA-T: (Rapid Interactive screening Test for Autism in Toddlers ) An interactive level 2 screening tool administered by trained providers to toddlers (validated for 18-36 months) who have scored positive on a level 1 screening tool or otherwise have developmental concerns. This site includes a RITA-T training course which is available to residents free of cost. (Contact DBP)
• CDC Act Early Autism Case Training (ACT): Free web-based continuing education course to help clinicians better identify ASD, assist families through the diagnostic process, and care for patients with ASD through 3 training modules. The modules incorporate useful videos illustrating typical and autism behaviors as well as examples of how to have difficult conversations with parents and caregivers.

Additional Resources:

• CHOP Open Access Medical Education: Autism Spectrum Disorder: (2018) Video recording of a lecture presentation by Susan E. Levy MD, MPH covering diagnostic criteria, core clinical features, epidemiology, screening and diagnostic strategies, current treatments, and guidance for parents.
• Peds RAP - New Therapies in Autism: Part One: Podcast recording with autism expert Shafali Jeste, MD discussing legitimate and unproven autism therapies. There is special focus on treating insomnia/sleep disturbance in ASD with melatonin. Other CAM therapies that are considered unsafe are discussed.

Advocacy and Resources for Residents, primary care physicians and Parents:

• Family TIES of Massachusetts: Provides information and referral services for Early Intervention to parents. Also offers emotional support and trainings for parents and caregivers.
• Autism Resource Central: Offers programs and events for families in Central Massachusetts. Offerings include workshops, support groups, and family fun activities. The site also provides links related to state resources, therapy and service providers, and legislative advocacy.
• A Parent’s Guide to Special Education: Brochure for parents that explains the process of developing an Individualized Education Plan (IEP) and procurement of services with the public school system. This is an extremely useful document that informs parents of their rights during a confusing process.
• A Parent’s Guide to Special Education in Massachusetts: Interactive module for parents, which accompanies the above brochure
• https://www.cdc.gov/ncbddd/actearly/index.html: Includes milestones and how to monitor development, when to be concerned. Also milestone tracker app to download.
• autismspeaks.org: Autism Speaks website: for general information; resources for families; Also short videos on typical and atypical development concerning for ASD.

Self Assessment:

1. A 24-month-old boy is brought to your office by his mother who tells you she is concerned about his speech and behavior. She reports that her son uses a total of 10 single words to communicate. He grabs her hand to place it on things that he wants. He does not point or make eye contact. The boy has tantrums when there is any change in his routines or when he hears loud noises. He is fascinated with lights, and does not respond to the presence of other children. His hearing evaluation and physical examination findings are normal. The boy’s mother tells you that he has a cousin with “delays.”

Of the following, the BEST next management step for this boy is to

1. administer the Childhood Autism Spectrum Test
2. assist the family in accessing an Individualized Family Service Plan
3. order a functional magnetic resonance imaging study
4. order electroencephalography
5. recommend twice-monthly applied behavioral analysis therapy

2. A 4-year-old girl presents for a health care maintenance visit. Which of the following is the most appropriate screening tool for this girl for autism spectrum disorder (ASD)?

1. Autism Diagnostic Observation Schedule
2. Childhood Autism Screening Test
3. Communication and Symbolic Behavior Scales and Developmental Profile
4. The Infant Toddler Checklist
5. Modified Checklist for Autism in Toddlers

3. A 2-year-old boy presents with severe language delay. Which of the following tests should be administered first?

1. Audiology testing
2. Comparative genomic hybridization array
3. Fragile X syndrome testing
4. Lead level
5. Metabolic testing

4. Parents of a 4-year-old girl diagnosed as having ASD want to know the best, most accepted complementary and alternative therapies for their child’s disorder. Which of the following therapies is best accepted in this category?

1. Chelation for heavy metal poisoning
2. Hyperbaric oxygen therapy
3. Massage therapy
4. Melatonin therapy
5. Vitamin B12 shot therapy

5. Developmental surveillance is performed at every well child visit, with questions like, "Do you have any concerns about your child's growth and development?" At what ages does the AAP recommend that developmental screening be performed? Select all that apply.

1. 2 months
2. 4 months
3. 6 months
4. 9 months
5. 12 months
6. 15 months
7. 18 months
8. 24 months
9. 30 months

Find the answers here.