Delineating the Profile of Autism Spectrum Disorder Characteristics in Cornelia de Lange and Fragile X Syndromes

American Journal on Intellectual and Developmental Disabilities (Impact Factor: 2.08). 01/2013; 118(1):55-73. DOI: 10.1352/1944-7558-118.1.55
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Abstract An atypical presentation of autism spectrum disorder is noted in Cornelia de Lange and Fragile X syndromes, but there are few detailed empirical descriptions. Participants in this study were individuals with Cornelia de Lange syndrome (n  =  130, M age  =  17.19), Fragile X syndrome (n  =  182, M age  =  16.94), and autism spectrum disorder (n  =  142, M age  =  15.19), who were comparable on chronological age. Using the Social Communication Questionnaire, the proportion meeting cutoff for autism spectrum disorder and autism was 78.6%, and 45.6%, respectively, in Cornelia de Lange syndrome and 83.6% and 48.6% in Fragile X syndrome. Domain and item analyses indicate differing, atypical autism spectrum disorder profiles in Fragile X and Cornelia de Lange syndromes. A limited association between adaptive behavior and autism spectrum disorder was identified in all groups. The findings have implications for intervention in genetic syndromes and conceptualization of autism spectrum disorder in the wider population.

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Available from: Chris Oliver, Sep 30, 2015
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    • "216, 220). The most recent estimate reported rates of 48.6 per cent for autism and 83.6 per cent for ASD in 182 Fragile X probands (Moss et al, 2013). This transformation – from no association to 16, and then on to 48.6 per cent – was made possible by shifts in diagnostic criteria. "
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    ABSTRACT: This article argues that the impact of genetics on psychiatry, and on our understanding of human difference more generally, will be mediated by the threefold social role of diagnostic categories as (i) coordinating devices; (ii) identities; (iii) sites of looping processes. This argument is explored by examining the intersection of a rare genetic disorder – 22q13 Deletion/Phelan-McDermid Syndrome (PMS) – with the much broader but genetically heterogeneous category of autism. We show that a ‘genomically designated’ classification such as PMS thrives as an object of research and social mobilization by virtue of its capacity to interface with, rather than supplant, the existing psychiatric diagnosis of autism. Autism genetics thus functions as a ‘trading zone’ (Galison, 1997) that allows for the exchange of knowledge, biomedical objects and resources despite incommensurable ends and frameworks of understanding.
    BioSocieties 09/2014; 9(3). DOI:10.1057/biosoc.2014.18 · 1.26 Impact Factor
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    • "Interestingly, in the study by Moss et al. comparing CdLS to ASD, the subjects with CdLS showed less repetitive behavior than the ASD group, based on Autism Diagnostic Observation Schedule (ADOS) domain scores [Moss et al., 2012]. Additionally, in a study comparing the autistic profile of CdLS with Fragile X (FXS) using the Social Communication Questionnaire, the CdLS group had reduced repetitive behaviors compared to the Fragile X group [Moss et al., 2013]. These studies show that individuals with CdLS have fewer repetitive behaviors than those with ASD or FXS; however both of these disorders have a high prevalence of repetitive behaviors. "
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    ABSTRACT: Cornelia de Lange syndrome (CdLS) is a cohesinopathy causing delayed growth and limb deficits. Individuals with CdLS have mild to profound intellectual disability and autistic features. This study characterizes the behavioral phenotype of children with CdLS, focusing on autistic features, maladaptive behaviors, and impact of age. Children with CdLS (5–18 years) were administered normed instruments to characterize autism features (Childhood Autism Rating Scale, CARS), maladaptive behaviors (Aberrant Behavior Checklist), and adaptive skills (Vineland Adaptive Behaviors Scales). CdLS features and severity were rated with Diagnostic Criteria for CdLS. Forty-one children with CdLS (23 females, 18 males) were classified as having “no autism” (n = 7; 17.1%), “mild autism” (n = 17; 41.4%), and “severe autism” (n = 17; 41.4%), using CARS scores. Characteristic items were abnormal emotional response, stereotypies, odd object use, rigidity, lack of verbal communication, and low intellectual functioning. Verbal communication deficits and repetitive behaviors were higher compared to sensory, social cognition, and behavior abnormalities (P ≤ 0.0001). Maladaptive behaviors associated with autism traits were stereotypies (P = 0.003), hyperactivity (P = 0.01), and lethargy (P = 0.03). Activities of daily living were significantly affected; socialization adaptive skills were a relative strength. However, with advancing age, both socialization (P < 0.0001) and communication (P = 0.001) domains declined significantly. CdLS is characterized by autistic features, notably excessive repetitive behaviors and expressive language deficits. While other adaptive skills are impacted, socialization adaptive skills are less affected. Advancing age can worsen communication and socialization deficits relative to neurotypical peers. © 2014 Wiley Periodicals, Inc.
    American Journal of Medical Genetics Part A 06/2014; 164(6). DOI:10.1002/ajmg.a.36573 · 2.16 Impact Factor
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    ABSTRACT: The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in Cornelia de Lange syndrome (CdLS). However, the profile and developmental trajectories of these ASD characteristics are potentially different to those observed in individuals with idiopathic ASD. In this study we examine the ASD profile in CdLS in comparison to a matched group of individuals with ASD. The Autism Diagnostic Observation Schedule (ADOS) was administered to 20 individuals with CdLS (mean age = 11.34; range = 6-13 years) and 20 individuals with idiopathic ASD (mean age = 10.42; range = 8-11 years). Participants were matched according to adaptive behaviour and receptive language skills. Sixty-five percent (N = 13) of individuals with CdLS met the cut-off score for autism on the total ADOS score. Further analysis at domain and item level indicated that individuals with CdLS showed significantly less repetitive behaviour, (specifically sensory interests); more eye contact, more gestures and less stereotyped speech than the ASD group. The CdLS group also showed higher levels of anxiety. The comparison between CdLS and idiopathic ASD indicates subtle group differences in the profile of ASD symptomatology that are not accounted for by degree of intellectual disability or receptive language skills. These differences may not be evident when relying solely upon clinical and domain level scores, but may be distinguishing features of the ASD presentations in the two disorders. The findings have implications for the conceptualisation and assessment of ASD in individuals with genetic syndromes.
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