Search results for "development disorders"

Clinical significance of test refusal among young children.

2001

The present study describes the incidence of test refusal at neuropsychological assessment, investigates its correlates, and its stability. The participants were 124 children aged 3.5 years whose development has been followed from birth in the Jyvaskyla Longitudinal Study of Dyslexia (JLD). The frequency of test refusal on the Finnish version of the NEPSY was analyzed with respect to the children's concurrent and earlier cognitive and language skills, assessed using tests and parental ratings. Refusal during test-taking was found to be relatively common at this age, and high frequency of refusal at an earlier age was associated with similar tendency at a later age. High test refusal was ass…

Identifying loci for the overlap between attention-deficit/hyperactivity disorder and autism spectrum disorder using a genome-wide QTL linkage approa…

2010

Contains fulltext : 88211.pdf (Publisher’s version ) (Closed access) OBJECTIVE: The genetic basis for autism spectrum disorder (ASD) symptoms in children with attention-deficit/hyperactivity disorder (ADHD) was addressed using a genome-wide linkage approach. METHOD: Participants of the International Multi-Center ADHD Genetics study comprising 1,143 probands with ADHD and 1,453 siblings were analyzed. The total and subscale scores of the Social Communication Questionnaire (SCQ) were used as quantitative traits for multipoint regression-based linkage analyses on 5,407 autosomal single-nucleotide polymorphisms applying MERLIN-regress software, both without and with inclusion of ADHD symptom sc…

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

2020

International audience; PURPOSE: Lamb-Shaffer syndrome (LAMSHF) is a neurodevelopmental disorder described in just over two dozen patients with heterozygous genetic alterations involving SOX5, a gene encoding a transcription factor regulating cell fate and differentiation in neurogenesis and other discrete developmental processes. The genetic alterations described so far are mainly microdeletions. The present study was aimed at increasing our understanding of LAMSHF, its clinical and genetic spectrum, and the pathophysiological mechanisms involved.METHODS: Clinical and genetic data were collected through GeneMatcher and clinical or genetic networks for 41 novel patients harboring various ty…

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

2013

Intellectual disability (ID) is characterized by an extraordinary genetic heterogeneity, with >250 genes that have been implicated in monogenic forms of ID. Because this complexity precluded systematic testing for mutations and because clinical features are often non-specific, for some of these genes only few cases or families have been unambiguously documented. It is the case of the X-linked gene encoding monoamine oxidase A (MAOA), for which only one nonsense mutation has been identified in Brunner syndrome, characterized in a single family by mild non-dysmorphic ID and impulsive, violent and aggressive behaviors. We have performed targeted high-throughput sequencing of 220 genes, includi…

Associations Between Toddler-Age Communication and Kindergarten-Age Self-Regulatory Skills

2014

Purpose In this study, the authors aimed at gaining understanding on the associations of different types of early language and communication profiles with later self-regulation skills by using longitudinal data from toddler age to kindergarten age. Method Children with early language profiles representing expressive delay, broad delay (i.e., expressive, social, and/or symbolic), and typical language development were compared in domains of kindergarten-age executive and regulative skills (attentional/executive functions, regulation of emotions and behavioral activity, and social skills) assessed with parental questionnaires. Results Children with delay in toddler-age language development de…

Array-CGH defined chromosome 1p duplication in a patient with autism spectrum disorder, mild mental deficiency, and minor dysmorphic features

2010

Are There Anthropometric Differences Between Autistic and Healthy Children?

2012

Anthropometric development and growth were assessed in 2 groups of 6- to 9-year-olds: children with autism spectrum disorders and typically developing children. In a case-control study conducted in Valencia, Spain, we compared the body mass index (kg/m2) of 40 children with autism spectrum disorders (cases) and 113 typically developing children (controls) from the same area of residence. The sex- and age-adjusted odds ratios for being underweight in cases was 2.41 compared to controls. Furthermore, the body mass index distribution of the cases was significantly offset to lower values with respect to that of the controls ( P = .024). In particular, 20% of the cases had a body mass index bel…

Disruption of the ASTN2 / TRIM32 locus at 9q33.1 is a risk factor in males for Autism Spectrum Disorders, ADHD and other neurodevelopmental phenotypes

2014

Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental disorders (NDDs). The vertebrate-specific astrotactins, ASTN2 and its paralog ASTN1, have key roles in glial-guided neuronal migration during brain development. To determine the prevalence of astrotactin mutations and delineate their associated phenotypic spectrum, we screened ASTN2/TRIM32 and ASTN1 (1q25.2) for exonic CNVs in clinical microarray data from 89 985 individuals across 10 sites, including 64 114 NDD subjects. In this clinical dataset, we identified 46 deletions and 12 duplications affecting ASTN2. Deletions o…

Development of early motor skills and language in children at risk for familial dyslexia

2007

Differences in motor development and the relationship between motor and language development were studied in 88 children with familial risk for dyslexia (43 females, 45 males; at-risk group) and 88 children without familial risk for dyslexia (35 females, 53 females; control group; n=176) during the first two years of life. A structured parental questionnaire was used to assess motor development. Expressive language skills were assessed at the age of 18 months with the Reynell Developmental Language Scales and at 18 and 24 months with the MacArthur Communicative Development Inventories. At group level, the motor development of children in both the at-risk and control groups was similar. Howe…

A pilot study of the effects of RightStart instruction on early numeracy skills of children with specific language impairment

2013

This pilot study investigated the effects of an early numeracy program, RightStart Mathematics (RS), on Finnish kindergartners with specific language impairment (SLI). The study applied a pre-test-instruction-post-test design. The children with SLI (n=9, Mage=82.11 months) received RS instruction two to three times a week for 40 min over seven months, which replaced their business-as-usual mathematics instruction. Mathematical skill development among children with SLI was examined at the individual and group levels, and compared to the performance of normal language-achieving age peers (n=32, Mage=74.16 months) who received business-as-usual kindergarten mathematics instruction. The childre…