Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder

Mosca, Stephen J.; Langevin, Lisa Marie; Dewey, Deborah; Innes, A. Micheil; Lionel, Anath C.; Marshall, Christian; Scherer, Stephen W.; Parboosingh, Jillian S.; Bernier, François P.

doi:10.1136/jmedgenet-2016-103818

Cited by 41 publications

(43 citation statements)

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“…No single cause has been identified, and its etiology appears to be multifactorial (12, 13). However, for many years, brain features have been assumed to constitute a valid explanation for all the symptoms in DCD, and several hypotheses have been formulated accordingly, some substantiated by behavioral studies.…”

Section: Introductionmentioning

confidence: 99%

Neural Signature of DCD: A Critical Review of MRI Neuroimaging Studies

et al. 2016

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The most common neurodevelopmental disorders (e.g., developmental dyslexia (DD), autism, attention-deficit hyperactivity disorder (ADHD)) have been the subject of numerous neuroimaging studies, leading to certain brain regions being identified as neural correlates of these conditions, referring to a neural signature of disorders. Developmental coordination disorder (DCD), however, remains one of the least understood and studied neurodevelopmental disorders. Given the acknowledged link between motor difficulties and brain features, it is surprising that so few research studies have systematically explored the brains of children with DCD. The aim of the present review was to ascertain whether it is currently possible to identify a neural signature for DCD, based on the 14 magnetic resonance imaging neuroimaging studies that have been conducted in DCD to date. Our results indicate that several brain areas are unquestionably linked to DCD: cerebellum, basal ganglia, parietal lobe, and parts of the frontal lobe (medial orbitofrontal cortex and dorsolateral prefrontal cortex). However, research has been too sparse and studies have suffered from several limitations that constitute a serious obstacle to address the question of a well-established neural signature for DCD.

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Section: Introductionmentioning

confidence: 99%

Neural Signature of DCD: A Critical Review of MRI Neuroimaging Studies

et al. 2016

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“…Specifically, they found an increased rate of large and rare CNVs ( P = .009), an enrichment of duplications spanning brain‐expressed genes ( P = .039) and genes previously implicated in other neurodevelopmental disorders ( P = .043) . Genes and loci of interest in this cohort were duplications in SHANK3 and 16p11.2, and deletions in VIPR2, 22q11, GAP43, and LSAMP . Additionally, 26% of DCD cases had de novo rare CNV, whereas 64% were from a parent who had a neurodevelopmental disorder .…”

Section: Introductionmentioning

confidence: 80%

“…In spite of the strong suggestions of a genetic basis for DCD, very little research has explored the genetic underpinning of DCD. A recent study by Mosca et al was the first to exclusively focus on the genetic origins of DCD; they investigated copy number variations (CNVs)—structural variation that is the result of deletion or duplication in the genome—and revealed an increased rate of rare CNVs in children with DCD. Specifically, they found an increased rate of large and rare CNVs ( P = .009), an enrichment of duplications spanning brain‐expressed genes ( P = .039) and genes previously implicated in other neurodevelopmental disorders ( P = .043) .…”

Section: Introductionmentioning

confidence: 99%

“…A recent study by Mosca et al was the first to exclusively focus on the genetic origins of DCD; they investigated copy number variations (CNVs)—structural variation that is the result of deletion or duplication in the genome—and revealed an increased rate of rare CNVs in children with DCD. Specifically, they found an increased rate of large and rare CNVs ( P = .009), an enrichment of duplications spanning brain‐expressed genes ( P = .039) and genes previously implicated in other neurodevelopmental disorders ( P = .043) . Genes and loci of interest in this cohort were duplications in SHANK3 and 16p11.2, and deletions in VIPR2, 22q11, GAP43, and LSAMP .…”

Section: Introductionmentioning

confidence: 99%

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Using a mouse model to gain insights into developmental coordination disorder

Gill

Rajan

Goldowitz

et al. 2020

Genes Brain and Behavior

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Motor impairments are a common feature of many neurodevelopmental disorders; in fact, over 50% of children with Attentional Deficit Hyperactivity Disorder or Autism Spectrum Disorder may have a co‐occurring diagnosis of developmental coordination disorder (DCD). DCD is a neurodevelopmental disorder of unknown etiology that affects motor coordination and learning, significantly impacting a child's ability to carry out everyday activities. Animal models play an important role in scientific investigation of behaviour and the mechanisms and processes that are involved in control of motor actions. The purpose of this paper is to present an approach in the mouse directed to gain behavioral and genetic insights into DCD that is designed with high face validity, construct validity and predictive validity. Pre‐clinical and clinical expertise is used to establish a set of scientific criteria that the model will meet in order to investigate the potential underlying causes of DCD.

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“…It has also become clear that there is partly a genetic basis for DCD ( (Mosca, 2016)) which, in interaction with reduced opportunities to practice new movement skills, may lead to significant longer term issues in functional performance. Genetic loci implicated in DCD (e.g., GAP43, RBFOX1 and other genes) are linked to a range of neurodevelopmental disorders and are strongly implicated in the maturation and function of neural networks previously associated with DCD.…”

Section: New Trends and Future Researchmentioning

confidence: 99%