An Update on Autism for Pediatricians

Educational Objectives

The goal of this program is to improve screening and diagnosis of autism spectrum disorder. After hearing and assimilating this program, the clinician will be better able to:

1. Devise a screening and treatment plan for autism spectrum disorder.

Summary

Autism spectrum disorder (ASD): a neurodevelopmental disorder that affects brain functioning, language development, and social interactions, and involves repetitive behaviors; according to the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5), diagnosis of ASD requires the presence of all 3 criteria under social communication impairment and ≥2 of 4 criteria under restrictive-repetitive behaviors; early identification of ASD is compromised by a lack of diagnosticians and long wait times during a critical time for brain development

Prevalence of ASD: is currently 1 in 36 children, with boys diagnosed 3.8 times more often than girls; early signs appear at ≥12 mo of age, but the diagnosis is made ≈4 yr of age; the Autism and Developmental Disabilities Monitoring (ADDM) Network has 11 centers across the United States; ADDM evaluates children 8 yr of age based on educational, suspected, or formal ASD diagnoses; regional variations in prevalence and median age at diagnosis (36 mo in California, 59 mo in Minnesota) raise questions around differences in identification vs actual differences

Autism in girls: many girls remain undiagnosed due to different symptom presentations; girls often exhibit fewer repetitive-restrictive behaviors and more social communication challenges, leading to underdiagnosis; this “early female protective effect” means girls are at higher risk for co-occurring conditions leading to anxiety, depression, and suicide; girls with ASD are more likely to have internalizing symptoms and may be better at masking (camouflaging), contributing to underdiagnosis and increasing risk for mental health comorbidities; camouflaging refers to the use of strategies and behaviors to appear neurotypical; women with ASD are at higher risk for depression and completed suicide; the Camouflaging Autistic Traits Questionnaire can help identify these behaviors; diagnostic and screening tools are likely more validated in boys

Risk factors for ASD: numerous genes or genetic syndromes have been linked to ASD, but the mechanisms remain unclear; siblings of children with ASD have a 2% to 8% risk, although broader social and communication difficulties affect 10% to 20%; monozygotic twins have higher concordance; male siblings are 3-fold more likely to receive a diagnosis than female siblings; 50% of those with ASD have chromosomal alterations (eg, Down syndrome increases risk 40-fold, and 30% to 50% of those with fragile X have ASD); environmental factors (eg, advanced parental age, antenatal infections, medications, maternal hypertension, poor maternal nutrition, substance use, prematurity, socioeconomic status) may increase ASD risk but are not exclusive causes

Biomarkers: there is currently no objective biological measure that predicts ASD risk; some preliminary findings are promising but require validation through large, diverse studies

Evidence-based treatment: referring children as soon as ASD is suspected allows them to benefit from early parent training and intervention programs, which are proven to improve outcomes; misconceptions, eg, waiting for children to “catch up” or attributing delays to multilingual households, can lead to unnecessary delay; diagnosing children <3 yr of age is the goal, but accurately identifying ASD at <2 yr of age is possible; early intervention services and school interventions are federally funded and accessible without a formal diagnosis (children with “developmental delay” qualify); other interventions include intensive behavioral intervention, applied behavior analysis (ABA), discrete trial training, and therapies for speech, occupational, and social skills (accessible for those with developmental and language delay); occupational therapy addresses, eg, feeding and daily living skills (may be affected by sensory difficulties); referral to occupational or speech therapy, even without an ASD diagnosis, can preempt more severe developmental hurdles; the Early Start Denver Model is based on ABA; JASPER (Joint Attention, Symbolic Play and Engagement Regulation) builds essential developmental skills; visual schedules with pictures can help children manage routines (eg, brushing teeth, getting ready for school)

Screening: tools are valuable but have predictive limitations; providers are encouraged to observe spontaneous play, use 2 screening tools, take thorough histories, and become familiar with DSM-5 criteria, remembering that the restrictive-repetitive criteria may not apply to younger children and girls

Readings

Abualait T, Alabbad M, Kaleem I, et al. Autism spectrum disorder in children: Early signs and therapeutic interventions. Children (Basel). 2024;11(11):1311. Published 2024 Oct 29. doi:10.3390/children11111311; Gao Y, Yu Y, Xiao J, et al. Association of grandparental and parental age at childbirth with autism spectrum disorder in children. JAMA Netw Open. 2020;3(4):e202868. Published 2020 Apr 1. doi:10.1001/jamanetworkopen.2020.2868; Jeon I, Kim M, So D, et al. Reliable Autism Spectrum Disorder Diagnosis for Pediatrics Using Machine Learning and Explainable AI. Diagnostics (Basel). 2024;14(22):2504. Published 2024 Nov 8. doi:10.3390/diagnostics14222504; Simione L, Frolli A, Sciattella F, et al. Mindfulness-based interventions for people with autism spectrum disorder: A systematic literature review. Brain Sci. 2024;14(10):1001. Published 2024 Sep 30. doi:10.3390/brainsci14101001.

Disclosures

For this program, members of the faculty and planning committee reported nothing relevant to disclose.

Acknowledgements

Dr. Chouieri was recorded at the 39th Annual Pediatrics for the Practitioner: Update 2024, held October 10-11, 2024, in Baltimore, MD, and presented by The Johns Hopkins University School of Medicine, Baltimore, MD; Johns Hopkins Children’s Center, Baltimore; and the Maryland Chapter of the American Academy of Pediatrics. For information about upcoming CME activities from this presenter, please visit https://hopkinscme.cloud-cme.com. Audio Digest thanks the speakers and presenters for their cooperation in the production of this program.

CME/CE INFO

Accreditation:

The Audio- Digest Foundation is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.

The Audio- Digest Foundation designates this enduring material for a maximum of 0.75 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Audio Digest Foundation is accredited as a provider of continuing nursing education by the American Nurses Credentialing Center's (ANCC's) Commission on Accreditation. Audio Digest Foundation designates this activity for 0.75 CE contact hours.

Lecture ID:

PD710603

Expiration:

This CME course qualifies for AMA PRA Category 1 Credits™ for 3 years from the date of publication.

Instructions:

To earn CME/CE credit for this course, you must complete all the following components in the order recommended: (1) Review introductory course content, including Educational Objectives and Faculty/Planner Disclosures; (2) Listen to the audio program and review accompanying learning materials; (3) Complete posttest (only after completing Step 2) and earn a passing score of at least 80%. Taking the course Pretest and completing the Evaluation Survey are strongly recommended (but not mandatory) components of completing this CME/CE course.

Estimated time to complete this CME/CE course:

Approximately 2x the length of the recorded lecture to account for time spent studying accompanying learning materials and completing tests.