Diagnosing Autism in Individuals with Known Genetic Syndromes: Clinical Considerations and Implications for Intervention

Hepburn, Susan; Moody, Eric J.

doi:10.1016/b978-0-12-374478-4.00009-5

Cited by 15 publications

(20 citation statements)

References 93 publications

(75 reference statements)

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“…Higher levels of disruptive behavior [ 18 ] and stereotypy [ 9 ] also have been reported in samples with DS and comorbid ASD relative to DS only. These findings fit within a broader literature suggesting that greater cognitive and/or adaptive functioning impairment increases the likelihood of receiving a comorbid ASD diagnosis for individuals with intellectual disability of various etiologies [ 19 – 21 ]. It is possible, however, that confounding factors such as degree of cognitive impairment, language skills, or adaptive functioning falsely increase the rates of ASD diagnoses in individuals with significant intellectual disability because the currently available measures are not able to accurately capture and separate social, cognitive, linguistic, and behavioral symptoms [ 12 ].…”

Section: Introductionsupporting

confidence: 82%

“…The heterogeneity within the ASD phenotype requires broad screening measures that capture a wide range of social communication and repetitive behaviors, which may overlap with other disorders such as DS, making it difficult to parse out behavioral symptoms attributable to ASD versus DS [ 19 ]. For example, screeners often include characteristics of ASD that are not diagnostic (e.g., certain motor mannerisms, lack of friendships, difficulty switching tasks, or other executive functions), with which many individuals with DS may struggle, even if they do not have ASD, due to their intellectual disability [ 20 , 21 ].…”

Section: Introductionmentioning

confidence: 99%

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Patterns of autism spectrum symptomatology in individuals with Down syndrome without comorbid autism spectrum disorder

Channell

Phillips

Loveall

et al. 2015

J Neurodevelop Disord

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BackgroundPrevalence estimates of autism spectrum disorder (ASD) in Down syndrome (DS) are highly varied. This variation is partly due to the difficulty of screening for and diagnosing comorbid ASD in individuals with a syndrome that carries its own set of social communicative and behavioral difficulties that are not well documented. The aim of this study was to identify the typical range of social communicative impairments observed in children, adolescents, and young adults with DS who do not have comorbid ASD.MethodsWe examined patterns of scores from the five subscales of the Social Responsiveness Scale (SRS) in 46 individuals with DS (ages 10–21 years) without comorbid ASD relative to the published normative sample. We also explored the correlations between SRS symptomatology and age, nonverbal cognition, and receptive language.ResultsSRS scores were elevated (i.e., more ASD symptoms endorsed), with mean scores falling into the clinically significant range. Analysis by subscale revealed a specific pattern, with Autistic Mannerisms and Social Cognition scores significantly more elevated than Social Communication scores, which were significantly more elevated than Social Awareness and Social Motivation scores. Correlations between SRS scores and the other measures varied by subscale.ConclusionsGeneral elevated ASD symptomatology on the SRS indicates the need for developing population-based norms specific to DS. The pattern of scores across subscales should inform clinicians of the typical range of behaviors observed in DS so that individuals with atypical patterns of behavior can be more easily identified and considered for a full ASD evaluation.

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Section: Introductionsupporting

confidence: 82%

Section: Introductionmentioning

confidence: 99%

Patterns of autism spectrum symptomatology in individuals with Down syndrome without comorbid autism spectrum disorder

Channell

Phillips

Loveall

et al. 2015

J Neurodevelop Disord

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“…Further, these observations need to be placed in the broader context of children’s development, current functioning, and phenotypic features. Indeed, Hepburn and Moody [ 50 ] convincingly argue that children with genetic, neurodevelopmental disorders must be evaluated for ASD in the context of their syndromic phenotype and developmental stage. In PWS, for example, it is unclear what role the syndrome’s characteristic infantile hypotonia, failure to thrive and growth hormone deficiencies might play in the expression of early indicators of ASD in joint attention, shared affect, imitation, and social attention, gestures, or responses [ 51 ].…”

Section: Discussionmentioning

confidence: 99%

Diagnoses and characteristics of autism spectrum disorders in children with Prader-Willi syndrome

Dykens

Roof

Hunt‐Hawkins

et al. 2017

J Neurodevelop Disord

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BackgroundA small percentage of people with autism spectrum disorders (ASD) have alterations in chromosome 15q11.2-q3, the critical region for Prader-Willi syndrome (PWS). Data are limited, however, on the rates and characteristics of ASD in PWS. Previous estimates of ASD in PWS (25 to 41%) are questionable as they are based solely on autism screeners given to parents. Inaccurate diagnoses of ASD in PWS can mislead intervention and future research.MethodsOne hundred forty-six children and youth with PWS aged 4 to 21 years (M = 11) were assessed with the Autism Diagnostic Observation Schedule-2 (ADOS-2). An expert clinical team-made best-estimate ASD diagnoses based on ADOS-2 videotapes, calibrated severity scores, and children’s developmental histories and indices of current functioning. Children were also administered the Kaufman Brief Intelligence Test-2, and parents completed the Repetitive Behavior Scale-Revised and Vineland Adaptive Behavior Scales. Scores were compared across children with PWS + ASD versus PWS only. The performance of an ASD screener, the Social Communication Questionnaire (SCQ) and the ADOS-2 were evaluated in relation to best-estimate diagnoses.ResultsBest-estimate diagnoses of ASD were made in 18 children, or 12.3% of the sample, and the majority of them had the maternal uniparental disomy (mUPD) PWS genetic subtype. Compared to the PWS-only group, children with PWS + ASD had lower verbal and composite IQ’s and adaptive daily living and socialization skills, as well as elevated stereotypies and restricted interests. Regardless of ASD status, compulsivity and insistence on sameness in routines or events were seen in 76–100% of children and were robustly correlated with lower adaptive functioning. The SCQ yielded a 29–49% chance that screen-positive cases will indeed have ASD. The ADOS-2 had higher sensitivity, specificity and predictive values. Communication problems were seen in children who were ADOS-2 positive but deemed not to have ASD by the clinical team.ConclusionsAutism screeners should not be the sole index of probable ASD in PWS; children need to be directly observed and evaluated. Compulsivity and insistence on sameness are salient in PWS and likely impede adaptive functioning. Most children with PWS only evidenced sub-threshold problems in social interactions that could signal risks for other psychopathologies.Electronic supplementary materialThe online version of this article (doi:10.1186/s11689-017-9200-2) contains supplementary material, which is available to authorized users.

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“…However, recent literature on ASD screening and diagnosis has shifted to reflect the changing referral trends, focusing more on differential diagnosis among children with average IQ (e.g., differentiating between ASD and ADHD or ASD and language disorder) (25, 26). Studies that have continued to explore differentiation of ASD and ID are primarily focused on genetic syndromes (27–29), since ASD geneticists are looking to specific genetic conditions with increased rates of ASD for clues about how to derive treatments for ASD symptoms (30). In addition, ASD-focused research within rare genetic syndromes has been fueled to some extent by specialized funding resources targeting ASD.…”

Section: Historical Contextmentioning

confidence: 99%

“…It is essential that clinicians use all available information about the individual to decide whether social communication skills that are below chronological age expectations are also lower than mental age/developmental expectations. This is challenging, especially when there are discrepancies in various aspects of mental age (e.g., verbal, nonverbal), when the individual’s mental age is lower than the minimum mental age assumed for the measure itself (27, 54), or when the clinical picture is complicated by comorbid sensory or other medical concerns. Therefore, depending on the study methodology and the clinical training and experience of the diagnosticians, rates of ASD diagnosis can vary tremendously between samples of individuals with the same syndrome.…”

Section: Diagnosing Asd In the Context Of Idmentioning

confidence: 99%

State of the Field: Differentiating Intellectual Disability From Autism Spectrum Disorder

et al. 2019

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The topic of this special issue on secondary versus idiopathic autism allows for discussion of how different groups may come to manifest autism spectrum disorder (ASD) or ASD-like symptoms despite important etiological differences. A related issue is that, because many of the social communication deficits that define ASD represent a failure to acquire developmentally expected skills, these same deficits would be expected to occur to some extent in all individuals with intellectual disability (ID). Thus, regardless of etiology, ASD symptoms may appear across groups of individuals with vastly different profiles of underlying deficits and strengths. In this focused review, we consider the impact of ID on the diagnosis of ASD. We discuss behavioral distinctions between ID and ASD, in light of the diagnostic criterion mandating that ASD should not be diagnosed if symptoms are accounted for by ID or general developmental delay. We review the evolution of the autism diagnosis and ASD diagnostic tools to understand how this distinction has been conceptualized previously. We then consider ways that operationalized criteria may be beneficial for making the clinical distinction between ID with and without ASD. Finally, we consider the impact of the blurred diagnostic boundaries between ID and ASD on the study of secondary versus idiopathic ASD. Especially pertinent to this discussion are findings that a diagnosis of ID in the context of an ASD diagnosis may be one of the strongest indicators that an associated condition or specific etiological factor is present (i.e., secondary autism).

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Diagnosing Autism in Individuals with Known Genetic Syndromes: Clinical Considerations and Implications for Intervention

Cited by 15 publications

References 93 publications

Patterns of autism spectrum symptomatology in individuals with Down syndrome without comorbid autism spectrum disorder

Patterns of autism spectrum symptomatology in individuals with Down syndrome without comorbid autism spectrum disorder

Diagnoses and characteristics of autism spectrum disorders in children with Prader-Willi syndrome

State of the Field: Differentiating Intellectual Disability From Autism Spectrum Disorder

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