Autism: Helping Children and Families Get the Right Support

Educational Objectives

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

1. Perform appropriate workup of children with ASD.
2. Provide advice and resources to parents to help them navigate the challenges of raising a child with ASD.

Summary

Autism diagnosis: referred patients may have already received a diagnosis of autism spectrum disorder (ASD) or need further investigation of suspected ASD; in other cases, parents are completely unaware of the reason for referral; therefore, parents vary with regard to their stage of grief about the diagnosis; clinicians should emphasize that a diagnosis of autism is not “a life sentence”; children who are sufficiently developmentally advanced should be given an explanation of the meaning of autism and told that, eg, “being different is good”; parents should be counseled that they are not at fault, as self-blame may hinder focusing on next steps; parental engagement is critical in management of ASD in children; primary care pediatricians can provide guidance to parents in arranging additional testing and interventions, which may be an overwhelming and complicated process

Identification and evaluation of autism: workup includes history, family history, comprehensive physical examination (including evaluation of skin), growth parameters (particularly head circumference), and identification of dysmorphic facial features; recommended laboratory studies for a child newly diagnosed with ASD are fragile X and chromosomal microarray; the exact cause for autism is not known (likely a combination of genetics and environment)

Genetic analysis: often reveals a genetic syndrome or variant of unknown clinical significance; some identified genetic differences are pathologic variants, but these are present in a minority of patients diagnosed with ASD; after obtaining a chromosomal microarray and fragile X testing, patients are referred to a genetics specialist for further testing; cheek swabs can now be used for genetic testing, obviating the need for a blood draw; an autism panel and/or whole-exome sequencing may be performed

Fragile X syndrome: the most common cause of inherited intellectual disability; also the most common single-gene disorder found in ASD; boys and girls are tested

Down syndrome: as children with Down syndrome tend to be affectionate, sociable, and gregarious, autism is not often considered; however, ≈40% of children with Down syndrome also have ASD

Rett syndrome: consider in girls who had apparently typical development until ≈1 yr of age, then have a sudden growth arrest, with microcephaly and regression in language and motor skills; stereotypical hand wringing at midline may be seen; consider testing for PTEN mutations in a child who has a family history of cancer and a large head (also identified on whole-exome sequencing)

Additional workup: refer to a neurologist to rule out neurofibromatosis if ≥6 café-au-lait spots or axillary freckling is present; neurologic consultation is also indicated if ash leaf spots or shagreen spots are present (suggestive of tuberous sclerosis); measure creatinine kinase level and assess thyroid function in children with significant low tone, muscle weakness (proximal more than distal), toe walking, or calf hypertrophy (to rule out muscular dystrophy); assess for MECP2 abnormalities in girls with signs of Rett syndrome

Florida's Protecting DNA Privacy Act: ensures that results of DNA analysis cannot be used without the individual’s express consent; increases criminal charges from a misdemeanor to a felony; health care providers are permitted to perform genetic testing but must obtain written consent from the parents or caregivers; the consent form must describe how the DNA is collected, used, retained, and maintained, and how results of the DNA analysis will be used

Assessments unnecessary for ASD evaluations: electroencephalography is not required unless a seizure disorder is suspected; screening magnetic resonance imaging is not needed unless the patient has atypical regression (ie, occurring after 2 yr of age), there is concern about seizures, neurologic examination is abnormal, or head size is abnormally large or small

Goals of interventions: one goal is to minimize core defects (ie, improve social communication and interaction and minimize restrictive and repetitive behaviors and activities); additionally, interventions should maximize independence and prevent or minimize problem behaviors; however, it is important to respect the child's neurodiversity; to prevent poor outcomes and help nonverbal children realize their greatest potential, parents should be encouraged to prompt use of words or other means of communication (eg, signs, picture exchange communication)

Types of intervention: speech and language therapy — addresses, eg, articulation, fluency, receptive and expressive language, pragmatic language; occupational therapy — may address fine motor skills, adaptive skills, and sensory processing difficulties

Behavioral approaches: include applied behavior analysis (ABA); other therapies (eg, Developmental, Individual-difference, Relationship-based [DIR] therapy/Floortime, Early-Start Denver model) are supported by good evidence; strategies from different models are often blended; ABA is somewhat controversial, as many people with ASD have voiced dislike of the approach; however, ABA has evolved over time from being adult-directed to a more child-directed and play-based model (currently, ABA is more individualized and better tolerated); criteria for good behavioral therapy — parents should be allowed to view their child during therapy; the child should make gains over time; a parent training component should be offered a minimum of once monthly (once weekly is preferred)

Other resources: the Center for Autism and Related Disabilities (CARD) often has case managers who help parents find resources in the local community; parents may join parent support groups; social skills groups are helpful, especially for higher-functioning children and adolescents; the Big Red Safety Box addresses the tendency of many children with ASD to “elope” (ie, wander away from safe environments), which exposes them to risk for traffic accidents and drowning; children <3 yr of age should be engaged in an early intervention program (available through the state of residence), which may include weekly home-based services delivered by an interventionist (private speech, occupational, and/or physical therapy may be necessary, as well); engagement in state-run programs eases the transition to school at 3 yr of age; parentcenterhub.org provides resources for parents, including preprinted letters that can be emailed to the child’s school

Individualized education plans (IEP): the child’s academic and functional performance is assessed; provides goals for the child, along with resources needed to achieve those goals; details the timing of services, necessary accommodations and modifications, plans for participation in standardized tests, and the kind of class needed for the child (must be the least restrictive environment); by law, children who have an IEP must be revaluated every 3 yr (results of testing may change over time); as insurance may not cover testing, it is best arranged through the school district; once children reach 16 yr of age, they should be active participants in their yearly IEP planning and in transition planning

Behavioral intervention plan: available to any student with an IEP who has behavioral difficulties in school; the process is similar to that used in ABA; a functional behavioral assessment of the child's behavior is performed; outlines a strategy for the child to develop adaptive behaviors that improve functioning

Readings

Hyman SL, Levy SE, Myers SM; Council on Children with Disabilities, Section on Developmental and Behavioral Pediatrics. Identification, evaluation, and management of children with autism spectrum disorder. Pediatrics. 2020; 145(1):e20193447; Mohammadzaheri F, Koegel LK, Rezaei M, Bakhshi E. A randomized clinical trial comparison between pivotal response treatment (PRT) and adult-driven applied behavior analysis (ABA) intervention on disruptive behaviors in public school children with autism. J Autism Dev Disord. 2015;45(9):2899-2907. doi:10.1007/s10803-015-2451-4; Neul JL. The relationship of Rett syndrome and MECP2 disorders to autism. Dialogues Clin Neurosci. 2012; 14(3):253-262. doi:10.31887/DCNS.2012.14.3/jneul; Pereira-Smith S, Boan A, Carpenter LA, et al. Preventing elopement in children with autism spectrum disorder. Autism Res. 2019;12(7):1139-1146. doi:10.1002/aur.2114; Tolliver S, Smith ZI, Silverberg N. The genetics and diagnosis of pediatric neurocutaneous disorders: Neurofibromatosis and tuberous sclerosis complex. Clin Dermatol. 2022;40(4):374-382. doi:10.1016/j.clindermatol.2022.02.010; Yehia L, Keel E, Eng C. The clinical spectrum of PTEN mutations. Annu Rev Med. 2020;71:103-116. doi:10.1146/annurev-med-052218-125823; Ziats MN, Rennert OM. The evolving diagnostic and genetic landscapes of autism spectrum disorder. Front Genet. 2016;7:65. Published 2016 Apr 26. doi:10.3389/fgene.2016.00065; Zwaigenbaum L, Bauman ML, Choueiri R, et al. Early intervention for children with autism spectrum disorder under 3 years of age: recommendations for practice and research. Pediatrics. 2015; 136 Suppl 1:S60-S81. doi:10.1542/peds.2014-3667E.

Disclosures

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

Acknowledgements

Dr. Spector was recorded at Hot Topics in Pediatrics, held July 21-23, 2022, at Lake Buena Vista, FL, and presented by Nemours Children's Health, Jacksonville, FL. For information on future CME activities from this presenter, please visit https://www.nemours.org/education/cme. Audio Digest thanks the speakers and Nemours Children's Health 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:

PD684202

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.