Autism: An Update on Diagnosis and Co-Occurring Conditions

Educational Objectives

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

1. Select children based on age for ASD-specific screenings.
2. Relate motor coordination problems to development of ASD.
3. Identify children who may benefit from virtual evaluations for ASD.

Summary

Prevalence: autism spectrum disorder (ASD) affects 1 in 36 children in the United States; the increasing prevalence of diagnoses can be attributed to better diagnosis, increased awareness, better screening tools, improved diagnostics, and potential true increase in prevalence; revisions to the Diagnostic and Statistical Manual of Mental Health Disorders have improved diagnostic clarity for ASD; public awareness of the diagnosis and symptoms of ASD has increased; universal screening tools, eg, modified checklist for autism in toddlers, revised (M-CHAT-R), have allowed for diagnosis at younger ages

History of autism: “infantile autism” as described by Kanner in 1943 was characterized by severe problems in social interaction and connectedness from the beginning of life, and resistance to change or insistence on sameness; ascribed the condition to parenting style, which is no longer considered correct; Asperger (1944) described a broader phenotype with social difficulties, circumscribed interests, but relatively good verbal skills

Diagnostic and Statistical Manual of Mental Health Disorders (DSM) criteria: DSM-II described a form of childhood schizophrenia and did not use the word “autism”; DSM–III described autism and pervasive developmental disorder not otherwise specified (PDD-NOS); autism is identified early in life and schizophrenia is diagnosed later; family history of schizophrenia is less common in persons with autism; DSM-IV described autism, Asperger syndrome, and PDD-NOS diagnosis; DSM–V combines all diagnoses under ASD because of variability in autism severity, poor diagnostic clarity, no cutoffs for specific categories, and no predictive outcomes based on category; specific diagnoses could potentially limit access to services

Core criteria: persistent deficits in social communications and social interactions across multiple contexts, manifested by social-emotional reciprocity, nonverbal communication, and relationships; restrictive, repetitive patterns of behavior, interests, or activities, as manifested by ≥2 of the following, stereotyped or repetitive behaviors, insistence on sameness, focused interests, and sensory differences

Updated version of the DSM-V: the social communication category was revised to read “as manifested by all of the following” from “as manifested by the following”

Severity levels: level 3 requires very substantial support, level 2 requires substantial support, and level 1 requires support; not intended to be a quantifiable score to monitor progress or determine where a child is on the spectrum; the categories are dynamic and change with interventions; co-occurring conditions are not included; severity levels are reflective of cognitive limitations

Early diagnosis: the Centers for Disease Control and Prevention report the average age of diagnosis (nationally) to be 49 mo; ASD can be diagnosed at <2 yr of age, but symptoms may not become apparent until social demands increase; the American Academy of Pediatrics (AAP) recommends screening at 18 and 24 mo of age; early interventions improve developmental gains, reduce symptom severity, and improve effective communication and social reciprocity and help children reach their highest potential; goals include communication skills, cognitive skills, social skills, and emotional and behavioral regulation skills through speech therapy, occupational therapy, applied behavior analysis (ABA) therapy

Diagnosis: Autism Diagnostic Observation Schedule (ADOS; 2nd Edition) — the gold standard; evidence-based and play-based assessment; expensive, takes 40 to 60 min to administer by a trained examiner; Barbaresi et al (2022) found diagnosis with or without ADOS was accurate in 90% of cases, which suggests ADOS is not necessary to diagnose ASD; additional evaluations — eye tracking; atypical eye gaze may be an early indicator of diagnosis

Telehealth: Phelps et al (2020) found younger children, children with a greater number of symptoms, and children with an established educational diagnosis are more likely to receive an autism diagnosis during a telehealth visit; advantages — children are more comfortable; families may observe their child in the home environment, with physician-directed parent engagement; provides services to families in rural areas with limited access to evaluations and services; disadvantages — children may struggle to participate; in-person evaluation may be necessary for some findings

Co-occurring conditions: recent studies show motor coordination problems occur in ≤87% of children with ASD; attention deficit hyperactivity disorder (ADHD) occurs in 45% of children with ASD; sleep-wake problems occur in 44% of children with ASD; anxiety disorders in occur in 42% of children with ASD

Motor coordination difficulties: the SPARK study (Bhat et al [2020]) found 87% of children with autism have motor impairment risks, and few received physical therapy; motor skills are associated with social communication skills; walking allows children to share objects with caregivers and exhibit social emotional reciprocity; head motions to look toward people, pointing, and gesturing are part of nonverbal communication skills; early intervention can facilitate growth in social communication skills; early access to physical therapy is beneficial; older children can benefit from recreational activities like adaptive or recreational sports and outdoor play

Attention deficit hyperactivity disorder: may be difficult to distinguish from autism; standardized tools are not validated in autism, but can monitor symptoms and treatment progression; ADHD can cause functional impairments in children with autism; other factors, eg, speech impairment causing inattention, perseverative interests causing internal distraction, should be ruled out; treatment — includes evidence based behavioral interventions for individuals with autism and medications; medication may have lower efficacy and adverse effects in children with ASD; the Society for Developmental and Behavioral Pediatrics provides clinical practice guidelines on varieties of complex ADHD and dual diagnoses (autism and ADHD); recommends starting with a stimulant as appropriate for the child; stimulants can suppress appetite; alpha2-adrenergic agonists or atomoxetine are non-stimulant options

Anxiety: occurs in children with ASD; diagnosis is challenging because of overlapping symptoms, eg, sensory sensitivities, and repetitive behaviors; cognitive and language impairments may complicate diagnosis; children may have a difficult time reporting their emotions; anxiety can manifest as behavioral challenges, increased perceptive or stereotyped repetitive behaviors, and gastrointestinal or sleep disturbances; treatment — behavioral interventions are valuable; selective serotonin reuptake inhibitors (SSRIs) are first-line; should be started at low doses; monitor for hyperactivation; the black box warning on SSRIs for suicide should be highlighted; α-adrenergic receptor agonists may be beneficial but are not as effective as SSRIs

Sleep disturbances: common in children with ASD; impacts daytime behaviors and quality of life for children and parents; children may have problems initiating and maintaining sleep; a thorough history of a child’s sleep routine is important; check for other symptoms during sleep, eg, restless legs, tossing and turning, snoring, mouth breathing, parasomnias; additional conditions, eg, gastroesophageal reflux disease, sleep apnea, epilepsy, restless leg syndrome, dental discomfort, eczema, should be ruled out; discuss behavioral strategies with families, including a consistent bedtime routine; limit screen time, especially before bedtime; blue light can suppress melatonin production; expectations should be clear and consistent, even across separate households; consider anxiety, ADHD, medical conditions, and sleep habits; treatment — there are no Food and Drug Administration approved medications for insomnia treatment in children (with or without ASD); melatonin can be helpful for delayed sleep onset; other medications may include alpha-adrenergic agents and antihistamines

Readings

Altun H, Arslan SC. Current pharmacological treatment for sleep disorders in children and adolescents with autism spectrum disorder. European Journal of Therapeutics. 2024;30(2):227–239. https://doi.org/10.58600/eurjther1978; Barbaresi W, Cacia J, Friedman S, et al. Clinician diagnostic certainty and the role of the autism diagnostic observation schedule in autism spectrum disorder diagnosis in young children. JAMA Pediatr. 2022;176(12):1233-1241. doi:10.1001/jamapediatrics.2022.3605; Bhat AN. Is motor impairment in autism spectrum disorder distinct from developmental coordination disorder? A report from the SPARK study. Phys Ther. 2020 Apr 17;100(4):633-644. doi: 10.1093/ptj/pzz190; Hellings J. Pharmacotherapy in autism spectrum disorders, including promising older drugs warranting trials. World J Psychiatry. 2023;13(6):262-277. Published 2023 Jun 19. doi:10.5498/wjp.v13.i6.262; Hyman SL, Levy SE, Myers SM. Identification, evaluation, and management of children with autism spectrum disorder. Pediatrics. 2020 Jan;145(1):e20193447. doi: 10.1542/peds.2019-3447; Maenner MJ, Warren Z, Williams AR, et al. Prevalence and characteristics of autism spectrum disorder among children aged 8 Years — Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2020. Surveillance Summaries. 2023 March 24;72(2):1–14; Mehling MH, Tasse MJ. Severity of autism spectrum disorders: Current conceptualization, and transition to DSM-5. Journal of Autism and Developmental Disorders. 2016;46:2000–2016. https://doi.org/10.1007/s10803-016-2731-7; Nadeau J, Sulkowski ML, Ung D, et al. Treatment of comorbid anxiety and autism spectrum disorders. Neuropsychiatry (London). 2011 Dec;1(6):567–578. doi: 10.2217/npy.11.62; Phelps RA, Sample E, Greene RK, et al. Identifying patient characteristics to understand which children may receive diagnostic clarity in a virtual autism spectrum disorder evaluation. J Autism Dev Disord. 2022;52(12):5126–5138. doi: 10.1007/s10803-022-05434-0; Turner K. Well-child visits for infants and young children. Am Fam Physician. 2018;98(6):347-353; Turner M. The role of drugs in the treatment of autism. Aust Prescr. 2020;43(6):185-190. doi:10.18773/austprescr.2020.054; Zampella CJ, Wang LAL, Haley M, et al. Motor skill differences in autism spectrum disorder: A clinically focused review. Curr Psychiatry Rep. 2021;23:64. https://doi.org/10.1007/s11920-021-01280-6.

Disclosures

For this program, members of the faculty and planning committee reported nothing relevant to disclose. Dr. Raz’s lecture includes information related to the off-label or investigational use of a therapy, product, or device.

Acknowledgements

Dr. Raz was recorded at the 47th Annual Melvin L. Cohen, MD, Pediatric Update Conference, held March 4-7, 2024, in Scottsdale, AZ, and presented by the Phoenix Children’s Hospital. For information on upcoming programs from this presenter, please visit https://www.phoenixchildrens.org/providers/medical-education. 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:

PD703102

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.