Autism spectrum disorder (ASD) symptom profiles of children with comorbid Down syndrome (DS) and ASD: A comparison with children with DS-only and ASD-only

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Highlights

  • Social-communication is weaker in children with autism than in Down syndrome and comorbid autism.

  • Symptom profiles differ among autism, Down syndrome, and comorbid Down syndrome and autism.

  • Verbal skills are strongly related to social-communication in Down syndrome and comorbid autism.

Abstract

Background

Down syndrome (DS) is associated with increased rates of autism spectrum disorder (ASD), characterized by social−communicative impairments (SOC−COM) and repetitive behaviors and interests (RBI). However, little is known about the ASD symptom presentation in children with DS + ASD.

Aims

The current study sought to describe parent-report of SOC−COM and RBI symptoms on the Autism Diagnostic Interview -Revised (ADI-R) in children with DS (n = 22), DS + ASD (n = 11), and ASD (n = 66).

Method

SOC−COM and RBI scores from the ADI-R were compared across the groups whose autism status was ascertained using the Autism Diagnostic Observation Schedule.

Results

Differences in SOC−COM and RBI symptom severity was observed. The general pattern of findings was ASD > DS+ASD > DS. Dissimilar ASD symptom profiles were observed across groups. In ASD, SOC−COM scores were higher than RBI scores; in DS + ASD, similar SOC−COM and RBI scores were observed. Lastly, SOC−COM impairments were highly related to verbal cognition in youth with DS + ASD but not in those with DS or ASD.

Conclusions and Implications

These findings suggest that children with DS + ASD have a distinct profile of ASD symptoms that differs from peers with either disorder in isolation. Thus, care should be taken in evaluating and designing treatments for this group.

Section snippets

What this paper adds?

Few studies have examined the ASD symptom profile of youth with comorbid DS and ASD (DS + ASD). Of the limited research, no studies of DS + ASD examining ASD symptoms have used gold standard diagnostic measures to designate group membership. Consequently, the current study expands upon past research by examining ASD symptoms in children with DS + ASD, DS-only, and ASD-only who were diagnosed through direct assessment using the gold standard Autism Diagnostic Observation Schedule and whose ASD

Participants

DS and DS + ASD participants: Participants with DS were a subset of individuals previously enrolled in studies from two universities (for more information, see DiGuiseppi et al., 2010). Participants were eligible if they were born between January 1, 1996 to December 21, 2003 and had a caregiver who spoke English or Spanish fluently. These participants were originally recruited from a statewide registry of birth defects, which included families’ contact information and most recent mailing

Results

A 3 × 2 semi-parametric ANOVA with one between-subjects factor (Diagnostic Group: DS + ASD, DS-only, ASD) and one within-subjects factor (Algorithm domain composite score: SOC-COM, RBI) was conducted to examine differences among the three diagnostic groups on the two ADI-R domains. A main effect of diagnostic group was found (F(2,96) = 60.21, p < 0.01), such that the ASD group had higher scores (indicating greater impairment) than the DS+ASD group who in turn had higher scores than the DS-only

Findings and interpretation

Little is known about the ASD symptom profile of youth with comorbid DS + ASD. The very small existing literature suggests that children with DS + ASD differ from children with DS on autism symptom measures and other aspects of psychosocial functioning, and studies comparing children with DS + ASD to those with ASD have yielded inconsistent findings. Consequently, researchers and clinicians have been unable to draw robust conclusions about shared and unique features of these conditions to

Declarations of interest

None.

Funding

The work was supported by the National Center on Birth Defects and Developmental Disabilities, Center for Disease Control and Prevention, through Cooperative Agreement RTO12005-1/2–416 with the Association of University Centers on Disabilities, University Center of Excellence in Developmental Disabilities Education, Research, and Service Grant 90DD0632 from the Administration on Developmental Disabilities, Administration for Children and Families; and Leadership Education in Neurodevelopmental

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