Characteristics Associated with Autism Spectrum Disorder Risk in Individuals with Down Syndrome

Channell, Marie Moore; Hahn, Laura J.; Rosser, Tracie C.; Hamilton, Debra; Frank‐Crawford, Michelle A.; Capone, George T.; Sherman, Stephanie L.

doi:10.1007/s10803-019-04074-1

Cited by 32 publications

(24 citation statements)

References 54 publications

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“…Interestingly, in the current study SRS-2 scores were negatively associated with social competence (i.e., elevated ASD-like symptoms were associated with lower social competence) and positively associated with problem behaviors (i.e., elevated ASD-like symptoms were associated with more problem behaviors) as measured by the SSIS. Although the SSIS was not included in Channell et al.’s (2015) study, the current study’s finding is consistent with other studies that have observed a negative association between social skills and ASD symptoms (Channell et al., 2019; Molloy et al., 2009) and a positive association between maladaptive behaviors and ASD symptoms (Capone et al., 2005; Carter et al., 2007; Channell et al., 2019; Kent et al., 1999; Richards et al., 2012; Warner et al., 2014) in individuals with DS. It also validates that, although the SRS-2 demonstrates elevated ASD-like symptoms in children with DS in general, scores are still related to social competence and problem behaviors in the expected directions.…”

Section: Discussionsupporting

confidence: 91%

The Social Responsiveness Scale (SRS-2) in school-age children with Down syndrome at low risk for autism spectrum disorder

Channell

2020

Autism & Developmental Language Impairments

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Background and aims Little is known about how autism spectrum disorder (ASD) symptoms present in individuals with Down syndrome (DS). Some behaviors may be symptomatic of comorbid ASD or more broadly representative of the DS phenotype. A prior research study documented elevated ASD-like symptoms in adolescents and young adults with DS without comorbid ASD, using a common ASD risk screening tool—the Social Responsiveness Scale (SRS). The current study applied a similar approach to younger children with DS using the SRS-2. The primary aim was to document patterns of ASD-like symptoms in children with DS at low risk of comorbid ASD to distinguish the symptoms that may be present across DS in general. Methods SRS-2 standard scores were analyzed in a sample of 40 children with DS, 6–11 years old, who were considered to be at low risk for ASD based on the Social Communication Questionnaire (SCQ) screener. Other developmental characteristics (i.e., age, nonverbal IQ, expressive language), social skills, and problem behaviors were also examined across the sample. Results SRS-2 scores were significantly elevated in this sample compared to the normative population sample. A pattern of ASD-like symptomatology was observed across SRS-2 subdomains. These findings were similar to the findings of the prior study. However, nuanced differences were observed across the two samples that may represent developmental differences across different ages in this population. Conclusions Replicating and extending a prior study's findings, certain ASD-like behaviors may occur in individuals with DS who are at low risk for comorbid ASD. Implications: Understanding the pattern of ASD-like behaviors that occur in children with DS who are at low risk for comorbid ASD will help clinicians in screening and identification efforts. In particular, it will lead to better specification of the behaviors or symptoms that are not characteristic of the DS phenotype and thus are red flags for comorbid ASD in this population.

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Section: Discussionsupporting

confidence: 91%

The Social Responsiveness Scale (SRS-2) in school-age children with Down syndrome at low risk for autism spectrum disorder

Channell

2020

Autism & Developmental Language Impairments

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“…The prevalence of ASD in DS appears to be between 1 and 11% [164]. The rates vary considerably depending on the sample size and diagnostic criteria employed in each study [165][166][167][168][169]. Additionally, ASD diagnosis is challenging in the DS population due to the intrinsic behavioral and language impairments associated with this syndrome [170].…”

Section: Genetic Mutations Related To An Asd-like Clinical Syndromementioning

confidence: 99%

Abnormalities of synaptic mitochondria in autism spectrum disorder and related neurodevelopmental disorders

et al. 2020

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Autism spectrum disorder (ASD) is a neurodevelopmental condition primarily characterized by an impairment of social interaction combined with the occurrence of repetitive behaviors. ASD starts in childhood and prevails across the lifespan. The variability of its clinical presentation renders early diagnosis difficult. Mutations in synaptic genes and alterations of mitochondrial functions are considered important underlying pathogenic factors, but it is obvious that we are far from a comprehensive understanding of ASD pathophysiology. At the synapse, mitochondria perform diverse functions, which are clearly not limited to their classical role as energy providers. Here, we review the current knowledge about mitochondria at the synapse and summarize the mitochondrial disturbances found in mouse models of ASD and other ASD-related neurodevelopmental disorders, like DiGeorge syndrome, Rett syndrome, Tuberous sclerosis complex, and Down syndrome.

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“…The participants were drawn from the Down Syndrome Cognition Project (DSCP), which has generated previous publications 51 – 53 , although none with the specific aims of the present study. Participants and measures reported here are a subset of those from the larger study.…”

Section: Methodsmentioning

confidence: 99%

Relationship between Apgar scores and long-term cognitive outcomes in individuals with Down syndrome

Soriano

Rosser

Hamilton

et al. 2021

Sci Rep

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This study examined the contribution of the Apgar score at 1 and 5 min after birth to later cognitive functioning in 168 individuals with Down syndrome who were between 6 and 25 years of age at time of cognitive testing. Our results showed that a lower Apgar score at 1 min was related to a worse performance in later cognitive measures of receptive vocabulary, verbal comprehension and production, visual memory and working memory. Results also showed that a lower Apgar score at 5 min was only related to worse later outcomes of verbal comprehension and production and auditory working memory. Our findings suggest a need for future studies investigating how specific perinatal events reflected in the Apgar score are linked to later cognitive functioning in individuals with Down syndrome.

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Characteristics Associated with Autism Spectrum Disorder Risk in Individuals with Down Syndrome

Cited by 32 publications

References 54 publications

The Social Responsiveness Scale (SRS-2) in school-age children with Down syndrome at low risk for autism spectrum disorder

The Social Responsiveness Scale (SRS-2) in school-age children with Down syndrome at low risk for autism spectrum disorder

Abnormalities of synaptic mitochondria in autism spectrum disorder and related neurodevelopmental disorders

Relationship between Apgar scores and long-term cognitive outcomes in individuals with Down syndrome

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