Search results for "developmental disorder"
showing 10 items of 147 documents
DESARROLLO EVOLUTIVO Y SEVERIDAD DEL TRASTORNO DEL ESPECTRO AUTISTA EN NIÑOS: RELACIÓN CON EL CI
2016
El Trastorno del Espectro Autista (TEA) es un trastorno del neurodesarrollo que se caracteriza principalmente por la alteración en el área de la comunicación social. Es importante su identificación temprana para su intervención. Nuestro estudio pretende estudiar qué áreas del desarrollo están más afectadas y su relación con la severidad del diagnóstico. Para ello participaron 51 familias con niños con diagnóstico clínico de Trastorno del Espectro Autista. Se administraron pruebas de CI verbal y no-verbal, el test Gars-2 y el Inventario de Desarrollo de la Battelle. Los resultados mostraron que las áreas de comunicación expresiva y personal/social estaban más deterioradas en los sujetos de l…
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 …
Auditory Event-Related Potentials in the Study of Developmental Language-Related Disorders
1997
This article reviews recent auditory event-related potential (ERP) studies of developmental language disorder (DLD) and dyslexia/reading disorder (RD). The possibility of using ERPs in searching for precursors of these disorders in the early development of infants at risk is also discussed. Differences in exogenous/sensory ERPs at the latency range of P1 and N1-P2 components have been reported between groups with DLD and RD and control groups. Latency differences between the groups may be related to a common timing deficit suggested by some researchers to be one of the possible underlying factors both in DLD and dyslexia. N1 amplitude group differences may be partly related to arousal/atten…
Criss‐crossing autism spectrum disorder and adult neurogenesis
2021
Autism spectrum disorder (ASD) comprises a group of multifactorial neurodevelopmental disorders primarily characterized by deficits in social interaction and repetitive behavior. Although the onset is typically in early childhood, ASD poses a lifelong challenge for both patients and caretakers. Adult neurogenesis (AN) is the process by which new functional neurons are created from neural stem cells existing in the post-natal brain. The entire event is based on a sequence of cellular processes, such as proliferation, specification of cell fate, maturation, and ultimately, synaptic integration into the existing neural circuits. Hence, AN is implicated in structural and functional brain plasti…
Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B
2017
To evaluate the natural course of disease progression in patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB), identify potential end points for future therapy trials, and characterize biomarkers related to the disease.A prospective, multicenter study was conducted. Baseline, 6-month, and 12-month assessments included neurodevelopmental status (Bayley Scales of Infant Development, Third edition), adaptive status (Vineland Adaptive Behavior Scales, Second Edition), volumetric brain magnetic resonance imaging, cerebrospinal fluid heparan sulfate, and urine glycosaminoglycan (GAG) measurements.Nineteen patients aged 1.6-31.7 years were enrolled. Over 12 months, cognition,…
Higher vitamin B12 levels in neurodevelopmental disorders than in healthy controls and schizophrenia
2020
Recent studies suggest that both high and low levels of vitamin B12 (vitB12) may have negative health impacts. We measured VitB12 in patients with the Neurodevelopmental disorders (ND) (n = 222), comprised of Autism Spectrum Disorders, specific Developmental disorders, and Intellectual Disability (aged 2-53 years), schizophrenia (n = 401), and healthy controls (HC) (n = 483). Age-and gender-adjusted vitB12 z-scores were calculated by comparisons with a reference population (n = 76 148). We found higher vitB12 in ND (median 420 pmol/L, mean z-score: 0.30) than in HC (316 pmol/L, z-score: 0.06, P < .01) and schizophrenia (306 pmol/L, z-score: -0.02, P < .001), which was significant after adju…
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome.
2012
Background: Rubinstein-Taybi syndrome (RSTS) is a congenital neurodevelopmental disorder defined by postnatal growth deficiency, characteristic skeletal abnormalities and mental retardation and caused by mutations in the genes encoding for the transcriptional co-activators with intrinsic lysine acetyltransferase (KAT) activity CBP and p300. Previous studies have shown that neuronal histone acetylation is reduced in mouse models of RSTS. Methods: The authors identified different mutations at the CREBBP locus and generated lymphoblastoid cell lines derived from nine patients with RSTS carrying distinct CREBBP mutations that illustrate different grades of the clinical severity in the spectrum …
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…
Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia
2005
Background: Mutations of oligophrenin 1, one of the first genes identified in nonspecific X-linked mental retardation (MRX), have been described in patients with moderate to severe cognitive impairment and predominant cerebellar hypoplasia, in the vermis. Objective: To further delineate the phenotypic and mutational spectrum of the syndrome, by screening oligophrenin 1 in two cohorts of male patients with mental retardation (MR) with or without known posterior fossa anomalies. Methods: Clinical examination, cognitive testing, MRI studies, and mutational analysis (denaturing gradient gel electrophoresis and direct sequencing) on blood lymphocytes were performed in 213 unrelated affected indi…
Autism is a prenatal disorder: Evidence from late gestation brain overgrowth.
2018
This retrospective study aimed to specify the critical period for atypical brain development in individuals with autism spectrum disorder (ASD) using prenatal and postnatal head growth parameters. The sample consisted of 80 Caucasian, unrelated, idiopathic patients with ASD born after 1995. Fetal ultrasound parameters (head circumference [HC], abdominal circumference, and femur length) were obtained during the second and third trimesters of gestation. HC at birth and postnatal parameters at 12 and 24 months of age were also collected. Head overgrowth, assessed by HC, was highlighted during the second (20-26 weeks of amenorrhea) and third (28-36 weeks of amenorrhea) trimesters. Normal growth…