Search results for "developmental disorder"

Localization of MRX82: A new nonsyndromic X-linked mental retardation locus to Xq24-q25 in a Basque family

2004

Clinical and molecular studies are reported on a Basque family (MRX82) with nonsyndromic X-linked mental retardation (XLMR) in five affected males. A total of 38 microsatellite markers were typed. The XLMR locus has been linked to DXS8067, DXS1001, DXS425, DXS7877, and DXS1183 with a maximum LOD score of 2.4. The haplotype studies and multipoint linkage analysis suggest a localization of the MRX82 locus to an interval of 7.6 Mb defined by markers DXS6805 and DXS7346, in Xq24 and Xq25, respectively. No gene contained in this interval has been so far associated with nonsyndromic mental retardation, except for GRIA3, disrupted by a balanced translocation in a female patient with bipolar affect…

Effects of l-Carnitine in Patients with Autism Spectrum Disorders: Review of Clinical Studies

2019

Carnitine is an amino acid derivative, which plays several important roles in human physiology, in the central nervous system, and for mitochondrial metabolism, in particular. Altered carnitine metabolic routes have been associated with a subgroup of patients with autism spectrum disorders (ASD) and could add to the pathophysiology associated with these disorders. We review the current evidence about the clinical effects of carnitine administration in ASD in both non-syndromic forms and ASD associated with genetic disorders. Two randomized clinical trials and one open-label prospective trial suggest that carnitine administration could be useful for treating symptoms in non-syndromic ASD. Th…

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.

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

2010

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 structure and correlates of self-injurious behavior in an institutional setting

2001

The prevalence of self-injurious behavior (SIB) in an institution for people with mental retardation was investigated. The relationship between SIB and age, sex, level of retardation, length of institutionalization, adaptive behavior, and probable causes of mental retardation was examined. A factor analysis on the topographies of SIB indicated the existence of two forms of SIB, stereotyped and social. The results are discussed in terms of probable causes of SIB.

Nuevos recursos sanitarios en época de crisis: el papel del trabajador social en la Unidad de Neurorehabilitación Infantil del Hospital de Manises

2013

En los últimos años se ha detectado un aumento en los niños diagnosticados con Trastornos Generalizados del Desarrollo (TGD) y Daño Cerebral (DC). Al mismo tiempo la formación e información por parte de los profesionales que intervienen con estos niños también es mayor por lo que el Departamento de Salud de Manises creó en mayo del 2012 la primera Unidad de Neurorrehabilitación Infantil integrada en un hospital público valenciano especializada en estos casos. La Unidad está atendida por un equipo de profesionales especializados en TGD y DC, tanto en el diagnóstico como en la intervención y con una filosofía de trabajo interdisciplinar. Este equipo cuenta con la figura del trabajador social …

SLC20A1 Is Involved in Urinary Tract and Urorectal Development

2020

Previous studies in developing Xenopus and zebrafish reported that the phosphate transporter slc20a1a is expressed in pronephric kidneys. The recent identification of SLC20A1 as a monoallelic candidate gene for cloacal exstrophy further suggests its involvement in the urinary tract and urorectal development. However, little is known of the functional role of SLC20A1 in urinary tract development. Here, we investigated this using morpholino oligonucleotide knockdown of the zebrafish ortholog slc20a1a. This caused kidney cysts and malformations of the cloaca. Moreover, in morphants we demonstrated dysfunctional voiding and hindgut opening defects mimicking imperforate anus in human cloacal exs…

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…

Phenotype associated with TAF2 biallelic mutations: a clinical description of four individuals and review of the literature

2021

International audience; Transcription factor IID is a multimeric protein complex that is essential for the initiation of transcription by RNA polymerase II. One of its critical components, the TATA-binding protein-associated factor 2, is encoded by the gene TAF2. Pathogenic variants of this gene have been shown to be responsible for the Mental retardation, autosomal recessive 40 syndrome. This syndrome is characterized by severe intellectual disability, postnatal microcephaly, pyramidal signs and thin corpus callosum. Until now, only three families have been reported separately. Here we report four individuals, from two unrelated families, who present with severe intellectual disability and…