Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2017 May;173(5):1294-1300.
doi: 10.1002/ajmg.a.38174. Epub 2017 Apr 4.

Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome

David D Schwartz  1 , Jennifer M Katzenstein  2 , Eric J Highley  3 , Deborah L Stabley  4 , Katia Sol-Church  4 , Karen W Gripp  5 , Marni E Axelrad  1
Affiliations

Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome

David D Schwartz et al. Am J Med Genet A. 2017 May.

Abstract

Dysregulation of the mitogen activated protein kinase (MAPK) pathway in Costello syndrome (CS) may contribute to increased risk for autism-spectrum disorder (ASD). We examined prevalence of ASD symptoms in 14 individuals (six females) age 1-18 years with molecularly confirmed CS. Caregivers completed the Modified Checklist for Autism in Toddlers (M-CHAT) for ages 0-4 years (n = 7), and the Social Communication Questionnaire (SCQ) for ages 4 and older (n = 7). Age was associated with meeting ASD criteria: 5/7 (71.4%) younger children met the ASD cut-off on the MCHAT, compared to 0/7 older children on the SCQ. The following medical and developmental factors were strongly associated with ASD criteria on the M-CHAT: having a gastrostomy tube at time of assessment, not eating solid food, not walking, and not being toilet trained. Two children who met stricter ASD criteria had significantly lower adaptive functioning and were physically much more impaired. Among older participants, SCQ subscale scores in communication, socialization, and repetitive behavior domains were comparable to the typically-developing normative sample. ASD symptoms were highly elevated in younger CS individuals. Older children did not differ from typically developing samples in prevalence of ASD symptoms. CS individuals may appear to fall on the autism spectrum in early childhood due to severe feeding and orthopedic problems that improve by age four, suggesting many of these children may eventually emerge out of an ASD presentation.

Keywords: Costello syndrome; autism spectrum disorder; genetics.

PubMed Disclaimer

Figures

Figure 1
Figure 1
SCQ subdomain scores for individuals with Costello syndrome (n=7) compared to normative data from Rutter, Bailey, and Lord (2003) for children without an autism spectrum disorder or intellectual disability (non-ASD; n=25), intellectual disability (n=15), and autism spectrum disorder (ASD; n=160). Higher scores indicate greater impairment.
See this image and copyright information in PMC

References

    1. Adviento B, Corbin I, Widjaja F, Desachy G, Enrique N, Rosser T, Risi S, Marco EJ, Hendren RL, Bearden CE, Rauen KA, Weiss LA. Autism traits in the RASopathies. J Med Genet. 2014;51(1):10–20. - PMC - PubMed
    1. Alfieri P, Caciolo C, Piccini G, D’Elia L, Valeri G, Menghini D, Tartaglia M, Digilio MC, Dallapiccola B, Vicari S. Behavioral Phenotype in Costello Syndrome with Atypical Mutation: A Case Report. Am J Med Genet Part B. 2015;168B:66–71. - PubMed
    1. Alfieri P, Piccini G, Caciolo C, Perrino F, Gambardella ML, Mallardi M, Cesarini L, Leoni C, Leone D, Fossati C, Selicorni A, Digilio MC, Tartaglia M, Mercuri E, Zampino G, Vicari S. Behavioral profile in RASopathies. Am J Med Genet Part A. 2014;9999:1–9. - PubMed
    1. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 5. Arlington, VA: American Psychiatric Publishing; 2013.
    1. Axelrad ME, Glidden R, Nicholson L, Gripp KW. Adaptive skills, cognitive, and behavioral characteristics of Costello syndrome. Am J Med Genet Part A. 2004;128A:396–400. - PubMed