Movement Disorder Phenotypes in Children With 22q11.2 Deletion Syndrome

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Olfactory disorder in children with 22q11 deletion syndrome.

OBJECTIVE 22q11 deletion syndrome, a common human interstitial deletion syndrome (1:5000), is associated with a heterogeneous physical phenotype, including several factors that markedly increase the risk for olfactory disorder. Despite its potential consequences, pediatric studies of impaired olfaction are rare, and odor detection in children with 22q11 deletion syndrome has not yet been examin...

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BACKGROUND Although attention deficit-hyperactivity disorder (ADHD) is the most prevalent psychiatric disorder in children with 22q11.2DS, it remains unclear whether its clinical presentation is similar to that in children with idiopathic ADHD. The aim of this study is to compare the ADHD phenotype in children with and without 22q11.2DS by examining ADHD symptom scores, patterns of psychiatric ...

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Psychopathology and cognition in children with 22q11.2 deletion syndrome

BACKGROUND Children with 22q11.2 deletion syndrome (22q11.2DS) have been reported to have high rates of cognitive and psychiatric problems. AIMS To establish the nature and prevalence of psychiatric disorder and neurocognitive impairment in children with 22q11.2DS and test whether risk of psychopathology is mediated by the children's intellectual impairment. METHOD Neurocognition and psycho...

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Thalamic reductions in children with chromosome 22q11.2 deletion syndrome.

Children with chromosome 22q11.2 deletion syndrome (22q) suffer from physical and behavioral dysfunctions, including neuroanatomical anomalies, visuo-spatial processing deficits, and increased risk for psychopathology. Reduced total brain volume, parietal lobe volume, and cerebellar volumes, enlarged ventricles, and increased basal ganglia volumes have been reported. Since previous literature h...

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Language skills in children with velocardiofacial syndrome (deletion 22q11.2).

OBJECTIVE To further define the language profile of children with velocardiofacial syndrome (VCFS) and explore the influence of parental origin of the deletion on language. STUDY DESIGN Children and adolescents with VCFS (n = 27) were group-matched for sex, age, and IQ with 27 children and adolescents with idiopathic developmental delay. Fifty-four typically developing control subjects were a...

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ژورنال

عنوان ژورنال: Movement Disorders

سال: 2020

ISSN: 0885-3185,1531-8257

DOI: 10.1002/mds.28078