Behaviour in Cornelia de Lange syndrome: a systematic review

Mulder, Paul A.; Huisman, Sylvia; Hennekam, Raoul C. M.; Oliver, Chris; Balkom, Ingrid D. C. van; Piening, Sigrid

doi:10.1111/dmcn.13361

Cited by 24 publications

(28 citation statements)

References 40 publications

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“…Variants in NIPBL are associated with Cornelia de Lange syndrome (CdLS), a developmental disorder characterized by slow growth, moderate to severe intellectual disability, and abnormalities of bones in the arms, hands, and fingers (Brachmann, 1916; De Lange, 1933). Many affected individuals also have behavior problems, including compulsive repetition, anxiety, OCD, and ADHD (Mulder et al, 2017; Oliver et al, 2008). Given that approximately 60% of CdLS cases have a heterozygous NIPBL variant (Mannini et al, 2013), we were surprised to observe variants in this gene in our subjects.…”

Section: Discussionmentioning

confidence: 99%

De Novo Coding Variants Are Strongly Associated with Tourette Disorder

Willsey

Fernandez

et al. 2017

Neuron

154

187

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SUMMARY Whole-exome sequencing (WES) and de novo variant detection have proven a powerful approach to gene discovery in complex neurodevelopmental disorders. We have completed WES of 325 Tourette disorder trios from the Tourette International Collaborative Genetics cohort and a replication sample of 186 trios from the Tourette Syndrome Association International Consortium on Genetics (511 total). We observe strong and consistent evidence for the contribution of de novo likely gene-disrupting (LGD) variants (rate ratio [RR] 2.32, p = 0.002). Additionally, de novo damaging variants (LGD and probably damaging missense) are overrepresented in probands (RR 1.37, p = 0.003). We identify four likely risk genes with multiple de novo damaging variants in unrelated probands: WWC1 (WW and C2 domain containing 1), CELSR3 (Cadherin EGF LAG seven-pass G-type receptor 3), NIPBL (Nipped-B-like), and FN1 (fibronectin 1). Overall, we estimate that de novo damaging variants in approximately 400 genes contribute risk in 12% of clinical cases.

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Section: Discussionmentioning

confidence: 99%

De Novo Coding Variants Are Strongly Associated with Tourette Disorder

Willsey

Fernandez

et al. 2017

Neuron

154

187

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“…Whilst participants took part in both verbal and non-verbal cognitive assessments, non-verbal mental age was the variable that was available for the greatest number of participants. These findings may reflect the uneven profiles of cognitive abilities within these syndromes (Mulder et al 2017;Grados et al 2017;Stevens et al 1990Stevens et al , 2011Fung et al 2012;Lorusso et al 2007). Whilst these data were missing for only a few participants, it is important to take these into account when interpreting the evidence of comparability of level of ability between syndromes included in analyses.…”

Section: Discussionmentioning

confidence: 99%

An Observational Study of Social Interaction Skills and Behaviors in Cornelia de Lange, Fragile X and Rubinstein-Taybi Syndromes

Ellis

Oliver

Stefanidou

et al. 2020

J Autism Dev Disord

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We directly assessed the broader aspects of sociability (social enjoyment, social motivation, social interaction skills and social discomfort) in individuals with Cornelia de Lange (CdLS), fragile X (FXS) and Rubinstein-Taybi syndromes (RTS), and their association with autism characteristics and chronological age in these groups. Individuals with FXS (p < 0.01) and RTS (p < 0.01) showed poorer quality of eye contact compared to individuals with CdLS. Individuals with FXS showed less person and more object attention than individuals with CdLS (p < 0.01). Associations between sociability and autism characteristics and chronological age differed between groups, which may indicate divergence in the development and aetiology of different components of sociability across these groups. Findings indicate that individuals with CdLS, FXS and RTS show unique profiles of sociability.

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“…Previous publications have questioned the use of only questionnaires when assessing individual behaviour (Moss et al., ; Mulder et al., ). We performed direct in‐person assessments and interviews in the Dutch participants which allowed considering outcomes on development and behaviour within the context of daily functioning.…”

Section: Discussionmentioning

confidence: 99%

“…We performed direct in‐person assessments and interviews in the Dutch participants which allowed considering outcomes on development and behaviour within the context of daily functioning. In CdLS individuals’ prevalence rates of ASD, commonly assessed with questionnaires, range between 27% and 82% (Mulder et al., ). SCQ results in the present study showed that 8/9 Dutch participants scored above the clinical cut‐off for ASD‐spectrum and 7/9 scored above the Autism cut‐off.…”

Section: Discussionmentioning

confidence: 99%

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Development, behaviour and autism in individuals with SMC1A variants

Mulder

Huisman

Landlust

et al. 2018

Child Psychology Psychiatry

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Introduction Development and behaviour in Cornelia de Lange Syndrome (CdLS), including autism characteristics, have been described infrequently stratified to genetic cause and only a few studies have considered behavioural characteristics in relation to developmental level. Here, we describe the behavioural phenotype in individuals with CdLS with SMC1A variants. Methods We performed an international, interdisciplinary study on 51 individuals with SMC1A variants. Results of questionnaire studies are compared to those in individuals with Down Syndrome and with Autism Spectrum Disorder. Results on cognition and self‐injurious behaviour (SIB) are compared to those in individuals with CdLS caused by NIPBL variants. For Dutch participants with SMC1A variants we performed direct in‐person assessments of cognition, autism, and added an interview and questionnaire on adaptive behaviour and sensory processing. Results Individuals with SMC1A variants show a higher cognitive level and less SIB than individuals with NIPBL variants. Individuals with SMC1A variants without classic CdLS phenotype but with a Rett‐like phenotype show more severe intellectual disability and more SIB compared to those with a CdLS phenotype. Autism is less present if outcomes in direct in‐person assessments are evaluated taking developmental level into account compared to results based on a questionnaire. Conclusions Behaviour in individuals with CdLS should be evaluated taking genetic cause into account. Detailed interdisciplinary approaches are of clinical importance to inform tailored care and may eventually improve quality of life of patients and families.

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Behaviour in Cornelia de Lange syndrome: a systematic review

Cited by 24 publications

References 40 publications

De Novo Coding Variants Are Strongly Associated with Tourette Disorder

De Novo Coding Variants Are Strongly Associated with Tourette Disorder

An Observational Study of Social Interaction Skills and Behaviors in Cornelia de Lange, Fragile X and Rubinstein-Taybi Syndromes

Development, behaviour and autism in individuals with SMC1A variants

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