Search results for "Developmental Disorder"
showing 10 items of 147 documents
Time-on-Task in Children with ADHD: An ex-Gaussian Analysis
2013
AbstractAlthough it is widely known that high intra-individual variability (IIV) is a key characteristic of attention deficit/hyperactivity disorder (ADHD), a detailed exploration of the IIV pattern during the time course of a cognitive task has never been carried out. In this study, 30 children with ADHD and 30 controls, were administered the Conners’ Continuous Performance Task (CPT-II). The across-block individual performance of the groups was analyzed using an ex-Gaussian approach, which enabled a clearer understanding of how individual response times (RTs) fluctuate during a task in comparison with conventional measures of central tendency. While the conventional measures showed a sign…
Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3
2019
International audience; Self-renewal and differentiation of pluripotent murine embryonic stem cells (ESCs) is regulated by extrinsic signaling pathways. It is less clear whether cellular metabolism instructs developmental progression. In an unbiased genome-wide CRISPR/Cas9 screen, we identified components of a conserved amino-acid-sensing pathway as critical drivers of ESC differentiation. Functional analysis revealed that lysosome activity, the Ragulator protein complex, and the tumor-suppressor protein Folliculin enable the Rag GTPases C and D to bind and seclude the bHLH transcription factor Tfe3 in the cytoplasm. In contrast, ectopic nuclear Tfe3 represses specific developmental and met…
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
2019
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a dec…
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
2019
See Karakaya and Wirth (doi:10.1093/brain/awz273) for a scientific commentary on this article. Neurofascin (NFASC) isoforms are immunoglobulin cell adhesion molecules involved in node of Ranvier assembly. Efthymiou et al. identify biallelic NFASC variants in ten unrelated patients with a neurodevelopmental disorder characterized by variable degrees of central and peripheral involvement. Abnormal expression of Nfasc155 is accompanied by severe loss of myelinated fibres.
Association of Maternal Iodine Status With Child IQ: A Meta-Analysis of Individual Participant Data
2019
Abstract Context Although the consequences of severe iodine deficiency are beyond doubt, the effects of mild to moderate iodine deficiency in pregnancy on child neurodevelopment are less well established. Objective To study the association between maternal iodine status during pregnancy and child IQ and identify vulnerable time windows of exposure to suboptimal iodine availability. Design Meta-analysis of individual participant data from three prospective population-based birth cohorts: Generation R (Netherlands), INMA (Spain), and ALSPAC (United Kingdom); pregnant women were enrolled between 2002 and 2006, 2003 and 2008, and 1990 and 1992, respectively. Setting General community. Participa…
Minor physical anomalies in children with autism spectrum disorder.
2007
Abstract Aim To investigate the rate and topological profile of minor physical anomalies (MPAs) (prenatal errors of morphogenesis) in a group of children with Autism Spectrum Disorder (ASD), in order to better set a temporal framing of embryological factors involved in the neurodevelopmental etiology. Method A new modified Waldrop scale and a mixed approach of computerized photogrammetry and classic anthroposcopy was used to detect the presence or absence of 41 MPAs in 24 children (mean age: 7 years; sex ratio: 22M:2F) with ASD and 24 healthy comparison subjects (mean age: 7 years; sex ratio: 19M:5F) selected with DSM IV and CARS. Results We found that children with ASD presenting MPAs (n =…
Corpus Callosum Morphology in Attention Deficit-Hyperactivity Disorder: Morphometric Analysis of MRI
1991
Although behavioral evidence provides support for the notion that attention deficit-hyperactivity disorder (ADHD) is related to central nervous system dysfunction, there is little direct evidence to reveal which neurometabolic systems or brain structures are involved. Recent magnetic resonance imaging (MRI) studies suggest that, compared to nondisabled controls, ADHD children may have a smaller right frontal region. Morphometric analysis of MRI scans was used in this exploratory study to determine whether correlated regional variation might exist in the corpus callosum of children with ADHD. While all MRI scans were judged to be clinically normal, morphometric analysis revealed that, compa…
14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosenc…
2011
Interstitial deletions involving 14q13.1q21.1 are rare. In the literature at least 10 cases involving this region have been described and all patients showed a phenotype within the holoprosencephaly (HPE) spectrum. Previous studies suggested the HPE8 region as a candidate locus for HPE at 14q13. We report an adolescent with a 14q13.1q21.1 deletion encompassing the HPE8 region associated with intellectual disability (ID), bilateral microphthalmia, and coloboma, without cerebral anomalies typical of HPE. Except for ocular defects (i.e., microphthalmia, coloboma) consistent with HPE-type anomalies, the minor facial dysmorphia was not suggestive for HPE and the absence of cerebral anomalies sho…
L'approche basée sur le génotype déterminé par séquençage haut-débit en première intention et le partage international des données pour identifier de…
2019
Developmental disorders (DD) include malformative disorders and neurodevelopmental disorders such as intellectual disability (ID) and autism spectrum disorders (ASD). These clinical features can be isolated or combined in a given patient, they affect around 3% of worldwide population. These disorders are responsible for major morbidity and mortality, for hospitalization especially in pediatric departments, for disabilities and, therefore, this represents a public health priority. Since 2004, in France, several national plans were conducted and extended, the last one being the 3rd National Plan for Rare Disorders (PNMR 2018-2022) which include 10 main goals, among others increasing diagnosis…
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes
2015
Contains fulltext : 153827.pdf (Publisher’s version ) (Open Access) Ablepharon macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are rare congenital ectodermal dysplasias characterized by similar clinical features. To establish the genetic basis of AMS and BSS, we performed extensive clinical phenotyping, whole exome and candidate gene sequencing, and functional validations. We identified a recurrent de novo mutation in TWIST2 in seven independent AMS-affected families, as well as another recurrent de novo mutation affecting the same amino acid in ten independent BSS-affected families. Moreover, a genotype-phenotype correlation was observed, because the two syndromes differed based s…