Search results for " Developmental disorders"
showing 9 items of 9 documents
The neuroanatomy of Eml1 knockout mice, a model of subcortical heterotopia
2018
Symposium issue: Human Cortex Developmentidentifiant wos: 000482426800014; International audience; The cerebral cortex is a highly organized structure responsible for advanced cognitive functions. Its development relies on a series of steps including neural progenitor cell proliferation, neuronal migration, axonal outgrowth and brain wiring. Disruption of these steps leads to cortical malformations, often associated with intellectual disability and epilepsy. We have generated a new resource to shed further light on subcortical heterotopia, a malformation characterized by abnormal neuronal position. We describe here the generation and characterization of a knockout (KO) mouse model for Eml1,…
Differences in Stress and Coping During the COVID-19 Pandemic in Families With and Without Children With Developmental Disorders or Chronic Conditions
2021
Objectives: To compare COVID-19-induced stress and coping in families with and without children diagnosed with developmental disorders or chronic conditions.Methods: In this mixed-method design study, an online survey collected information on parental stress levels before and during COVID-19, sources of stress, and coping strategies using open-ended questions. Qualitative answers were categorized thematically. Multiple linear regression models were built for the association between changes in stress levels (during-before COVID-19) and sources of stress for parents of children of both groups.Results: Answers of 1,827 parents were analyzed; of these, 186 (9.75%) had children with diagnosed pr…
Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation
2006
International audience; Objective: Autism is a complex, largely genetic psychiatric disorder. In the majority of cases, the cause of autism is not known, but there is strong evidence for a genetic etiology. To identify candidate genes, the physical mapping of balanced chromosomal aberrations is a powerful strategy, since several genes have been characterized in numerous disorders. In this study, the authors analyzed a balanced reciprocal translocation arising de novo in a subject with autism and mental retardation. Method: The authors performed the physical mapping of the balanced 9q23/ 10q22 translocation by fluorescent in situ hybridization experiments using bacterial artificial chromosom…
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…
ADHD symptoms and learning behaviors in children with ASD without intellectual disability. A mediation analysis of executive functions
2018
In spite of its importance for education, the relationship between learning behaviors (LB), attention deficit hyperactivity disorder symptoms (ADHD) and executive functioning (EF) in children with autism spectrum disorder (ASD) has hardly been explored. The first objective of the present study was to compare children with ASD without intellectual disability and children with typical development (TD) on ADHD symptoms and learning behaviors: Motivation/ competence, attitude toward learning, persistence on the task, and strategy/flexibility. The second objective was to analyze the mediator role of behavioral regulation and metacognition components of EF between ADHD symptoms and learning behav…
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…
The quality of life of children with pervasive developmental disorders
2009
AIM: Quality of life is increasingly the focus of attention by health, psychological and social services. Pervasive developmental disorders (PDD) are a group of psychiatric conditions in which the patient's clinical case history is characterized by disturbances in social interaction, deterioration of verbal and non-verbal communication, and presence of bizarre, limited and stereotyped activity. These disturbances affect multiple developmental areas and show up in very early stages of development, resulting in a permanent disorder. Many studies have sought to recognize causes and interventions for persons with PDD, however, they often take insufficient account of the effects these disorder c…
Urinaryp-cresol is elevated in young French children with autism spectrum disorder: a replication study
2014
The aromatic compound p-cresol (4-methylphenol) has been found elevated in the urines of Italian autistic children up to 8 years of age. The present study aims at replicating these initial findings in an ethnically distinct sample and at extending them by measuring also the three components of urinary p-cresol, namely p-cresylsulfate, p-cresylglucuronate and free p-cresol. Total urinary p-cresol, p-cresylsulfate and p-cresylglucuronate were significantly elevated in 33 French autism spectrum disorder (ASD) cases compared with 33 sex- and age-matched controls (p < 0.05). This increase was limited to ASD children aged ≤8 years (p < 0.01), and not older (p = 0.17). Urinary levels of p-cresol a…
Lasītprasmes veicināšana 5-6 gadus veciem bērniem ar jauktiem attīstības traucējumiem
2020
Darba mērķis:pētīt lasītprasmes veicināšanas iespējas 5-6 gadus veciem bērniem ar jauktiem attīstības traucējumiem ar vizuālo materiālu palīdzību.Darba pirmajā nodaļā autore apskata bērnu vecumposma attīstības īpatnības,fizioloģiju un psiholoģiju dažādu autoru skatījumā. Otrā daļā autore apskatīja un pētīja dažādus zinātniskās literatūras avotus un rakstus,kas saistīt ar lasītprasmes raksturojumu, veicinošiem un kavējošiem faktoriem, metodiku,kas veicina lasītprasmes attīstību. Iegūtās atziņas izmantoju pētāmās tēmas aprakstam.Trešajā daļā veicu pētniecisko darbu par vizuālo materiālu izmantošanu lasītprasmes veicināšanā. Analizēju literatūru, vadīju nodarbības, gatavoju metodiskos materiāl…