Characteristics of autism spectrum disorder in Cornelia de Lange syndrome

Moss, Joanna; Howlin, Patricia; Magiati, Iliana; Oliver, Chris

doi:10.1111/j.1469-7610.2012.02540.x

Cited by 61 publications

(72 citation statements)

References 44 publications

(99 reference statements)

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“…This was perhaps unsurprising since high levels of comorbidity with ADHD are also observed in idiopathic ASD (Simonoff et al 2008). There was also no evidence of group differences in the item measuring anxiety which is also a feature of some genetic disorders such as fragile X (Rogers et al 2001) and Cornelia de Lange syndrome (Moss et al 2012). Based on our study, it is possible that with fewer observed RRB's and better eye contact these children do not present in clinic as idiopathic ASD and hence more likely to be overlooked by clinicians.…”

Section: Discussionmentioning

confidence: 93%

Autism Spectrum Disorder Profile in Neurofibromatosis Type I

Garg

Plasschaert

Descheemaeker

et al. 2014

J Autism Dev Disord

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Neurofibromatosis Type 1 (NF1) is a common autosomal dominant single-gene disorder, in which the co-occurrence of autism spectrum disorder (ASD) has attracted considerable research interest recently with prevalence estimates of 21-40%. However, detailed characterization of the ASD behavioral phenotype in NF1 is still lacking. This study characterized the phenotypic profile of ASD symptomatology presenting in 4-16 year old children with NF1 (n = 36) using evidence from parent-rated Social Responsiveness Scale and researcher autism diagnostic observation Scale-2. Compared to IQ-matched reference groups of children with autism and ASD, the NF1 profile shows overall similarity but improved eye contact, less repetitive behaviors and better language skills.

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Section: Discussionmentioning

confidence: 93%

Autism Spectrum Disorder Profile in Neurofibromatosis Type I

Garg

Plasschaert

Descheemaeker

et al. 2014

J Autism Dev Disord

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“…4, 6, 16–18 Unadjusted comparisons of ASD symptom scores are also commonly made between children with ASD and children with other psychiatric disorders or genetic syndromes who differ significantly on these variables. 4, 5, 19 Furthermore, many studies assessing the relationships between ASD symptoms (or autistic traits) and other behavioral, genetic, and neurobiological variables do not carefully take into account phenotypic characteristics, such as age, IQ, or EBP, as potential confounding factors. 20–22 These practices have potentially very serious consequences, as they increase the likelihood of drawing erroneous conclusions about associations between ASD symptoms and etiological mechanisms.…”

Section: Discussionmentioning

confidence: 99%

Multidimensional Influences on Autism Symptom Measures: Implications for Use in Etiological Research

Havdahl

Bal

Huerta

et al. 2016

Journal of the American Academy of Child & Adolescent Psych

116

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Objective Growing awareness that symptoms of autism spectrum disorder (ASD) transcend multiple diagnostic categories, and major advances in the identification of genetic syndromes associated with ASD, has led to widespread use of ASD symptom measures in etiological studies of neurodevelopmental disorders. Insufficient consideration of potentially confounding factors such as cognitive ability or behavior problems can have important negative consequences in interpretation of findings, including erroneous estimation of associations between ASD and etiological factors. Method Participants were 388 children aged 2–13 years with diagnoses of ASD or another neurodevelopmental disorder without ASD. Receiver operating characteristics methods were used to assess the influence of IQ and emotional/behavioral problems on the discriminative ability of three widely used ASD symptom measures; the Social Responsiveness Scale (SRS), the Autism Diagnostic Interview-Revised (ADI-R), and the Autism Diagnostic Observation Schedule (ADOS). Results IQ influenced the discriminative thresholds of the SRS and ADI-R, and emotional/behavioral problems affected the discriminative thresholds of the SRS, ADI-R, and ADOS. This resulted in low specificity of ASD cut-offs on the SRS and ADI-R for children with intellectual disability without ASD (27–42%), and low specificity across all three instruments for children without ASD with elevated emotional/behavioral problems (36–59%). Adjustment for these characteristics resulted in improved discriminative ability for all three ASD measures. Conclusion The findings indicate that scores on ASD symptom measures reflect far more than ASD symptoms. Valid interpretation of these measures requires steps to account for the influences of IQ and emotional/behavioral problems.

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“…For example, the Cornelia de Lange syndrome, which is caused by mutations in NIP-BL, SMC3, and X-linked SMC1A and HDAC8 genes, occurs with and without ASD diagnostic symptoms (Moss et al 2012). However, with or without ASD diagnostic symptoms, Cornelia de Lange syndrome involves ID, social anxiety, and mutism.…”

Section: Genetic Syndromic Asd Has Been Found With Varied Brain Impaimentioning

confidence: 99%

ASD Validity

Waterhouse

London

Gillberg

2016

Rev J Autism Dev Disord

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ASD research is at an important crossroads. The ASD diagnosis is important for assigning a child to early behavioral intervention and explaining a child's condition. But ASD research has not provided a diagnosis-specific medical treatment, or a consistent early predictor, or a unified life course. If the ASD diagnosis also lacks biological and construct validity, a shift away from studying ASD-defined samples would be warranted. Consequently, this paper reviews recent findings for the neurobiological validity of ASD, the construct validity of ASD diagnostic criteria, and the construct validity of ASD spectrum features. The findings reviewed indicate that the ASD diagnosis lacks biological and construct validity. The paper concludes with proposals for research going forward.Keywords DSM-5 . ASD . Autism . Diagnosis . Validity . Comorbidity . HeterogeneityThe goal of the DSM-3 nosology (American Psychiatric Association 1980) was to create reliable and standard categorical psychiatric diagnoses (Robins and Guze 1970). However, in the past 30 years, clinical, genetics, and neuroscience findings have revealed that the DSM diagnoses are not biologically valid. The National Institutes of Mental Health (NIMH) responded by proposing the Research Domain Criteria (RDoC) framework for a brain-based transdiagnostic psychiatric symptom nosology (Cuthbert and Insel 2013;Insel et al. 2010;Lilienfeld and Treadway 2016). Peterson (2015) and Weinberger et al. (2015) argued that the RDoC could not replace the DSM-5 psychiatric nosology (American Psychiatric Association 2013) or the parallel International Classification of Diseases (ICD) psychiatric nosology (World Health Organization 2012). But BFor the foreseeable future, RDoC is not envisioned as a system of psychiatric classification in its own right. Instead, in the near term, RDoC and DSM-ICD are expected to coexist. Nevertheless, RDoC is intended to provide scaffolding for a large-scale research program that will ultimately yield an alternative to DSM-ICD^ (Lilienfeld and Treadway 2016, p. 445).RDoC advocates accept that DSM-5/ICD psychiatric categories remain necessary in clinical practice, but argue that researchers should shift to RDoC study designs immediately. They assert that studying psychiatric categories lacking biological validity blocks the discovery of brain bases for psychopathology and thus cannot lead to effective medical treatments for specific psychiatric symptoms (Cuthbert and Insel 2013;Insel et al. 2010;Lilienfeld and Treadway 2016;Yee et al. 2015). Against this RDoC imperative for biological validity, Weinberger et al. (2015) countered that current DSM-5 psychiatric behavioral diagnoses were valid when they yielded effective medical treatment, clear prognosis, and a life course specific to a diagnosis.Autism spectrum disorder (ASD) research has been productive (Dawson 2016;de la Torre-Ubieta et al. 2016;Szatmari et al. 2016), but no ASD research findings have met the validity criteria of Weinberger et al. (2015). DSM-5 ASD research has found no s...

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Characteristics of autism spectrum disorder in Cornelia de Lange syndrome

Abstract: Background: The prevalence of Autism Spectrum Disorder (ASD) symptomatology is comparatively

Cited by 61 publications

References 44 publications

Autism Spectrum Disorder Profile in Neurofibromatosis Type I

Autism Spectrum Disorder Profile in Neurofibromatosis Type I

Multidimensional Influences on Autism Symptom Measures: Implications for Use in Etiological Research

ASD Validity

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