Search results for "Developmental Disorder"
showing 10 items of 147 documents
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant.
2021
Almost half of all individuals affected by intellectual disability (ID) remain undiagnosed. In the Solve-RD project, exome sequencing (ES) datasets from unresolved individuals with (syndromic) ID (n = 1,472 probands) are systematically reanalyzed, starting from raw sequencing files, followed by genome-wide variant calling and new data interpretation. This strategy led to the identification of a disease-causing de novo missense variant in TUBB3 in a girl with severe developmental delay, secondary microcephaly, brain imaging abnormalities, high hypermetropia, strabismus and short stature. Interestingly, the TUBB3 variant could only be identified through reanalysis of ES data using a genome-wi…
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
2020
PurposeMarfanoid habitus (MH) combined with intellectual disability (ID) (MHID) is a clinically and genetically heterogeneous presentation. The combination of array CGH and targeted sequencing of genes responsible for Marfan or Lujan–Fryns syndrome explain no more than 20% of subjects.MethodsTo further decipher the genetic basis of MHID, we performed exome sequencing on a combination of trio-based (33 subjects) or single probands (31 subjects), of which 61 were sporadic.ResultsWe identified eight genes with de novo variants (DNVs) in at least two unrelated individuals (ARID1B, ATP1A1, DLG4, EHMT1, NFIX, NSD1, NUP205 and ZEB2). Using simulation models, we showed that five genes (DLG4, NFIX, …
The effects of a psychomotor training programme on motor skill development in children with developmental language disorders
1998
Abstract The purpose of this study was to compare the effectiveness of two approaches to movement intervention for children with a combination of language and movement difficulties – a specialist approach labelled psychomotor training and regular PE lessons from trained PE teachers. From a sample of 76 children formally classified as suffering from developmental language disorder, 54 (71%) fell below the 15th percentile on a test of motor competence. These 54 children were then divided into two groups, one of whom received a 10 week psychomotor training programme and the other regular PE lessons. Although all children, regardless of the type of intervention, made progress, the differences b…
Subjective Experience of Episodic Memory and Metacognition: A Neurodevelopmental Approach
2013
Episodic retrieval is characterized by the subjective experience of remembering. This experience enables the co-ordination of memory retrieval processes and can be acted on metacognitively. In successful retrieval, the feeling of remembering may be accompanied by recall of important contextual information. On the other hand, when people fail (or struggle) to retrieve information, other feelings, thoughts and information may come to mind. In this review, we examine the subjective and metacognitive basis of episodic memory function from a neurodevelopmental perspective, looking at recollection paradigms (such as source memory, and the report of recollective experience) and metacognitive parad…
Risk of mortality among children, adolescents, and adults with autism spectrum disorder or attention deficit hyperactivity disorder and their first-d…
2017
BACKGROUND: Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are childhood onset neurodevelopmental disorders that may persist into adulthood. ASD and ADHD tend to run in families and may have a significant negative impact on the health and longevity of those with the disorder and their relatives. The aim of this study will be to analyze the risk of mortality among children, adolescents, and adults with ASD or ADHD and their first-degree relatives. METHODS/DESIGN: We will conduct a systematic review and meta-analysis of observational studies. Searches of PubMed/MEDLINE, EMBASE, PsycINFO, SCOPUS, and ISI Web of Science will be used to identify epidemiologica…
Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review.
2022
This study was aimed to analyze the commonalities and distinctions of voltage-gated sodium channels, Nav1.2, Nav1.6, in neurodevelopmental disorders. An observational study was performed including two patients with neurodevelopmental disorders. The demographic, electroclinical, genetic, and neuropsychological characteristics were analyzed and compared with each other and then with the subjects carrying the same genetic variants reported in the literature. The clinical features of one of them argued for autism spectrum disorder and developmental delay, the other for intellectual disability, diagnoses confirmed by the neuropsychological assessment. The first patient was a carrier of SCN2A (p.…
Noli Me Tangere: Social Touch, Tactile Defensiveness, and Communication in Neurodevelopmental Disorders
2019
Tactile defensiveness is a common feature in neurodevelopmental disorders (NDDs). Since the first studies, tactile defensiveness has been described as the result of an abnormal response to sensory stimulation. Moreover, it has been studied how the tactile system is closely linked to socio-communicative development and how the interoceptive sensory system supports both a discriminating touch and an affective touch. Therefore, several neurophysiological studies have been conducted to investigate the neurobiological basis of the development and functioning of the tactile system for a better understanding of the tactile defensiveness behavior and the social touch of NDDs. Given the lack of rece…
The accumulation of problems of social functioning as a long-term process: Women and men compared
2000
Structural equation modelling was used to analyse the developmental processes involved in the accumulation of problems of social functioning from age 8 to age 36 in men ( n = 152) and women ( n = 145). The accumulation of risk factors in childhood and adolescence, including low control of emotions (aggressiveness and anxiety), school problems (poor adjustment, success, and motivation), and problems in the family (parental drinking and low socioeconomic status), predicted career instability, early timing of parenthood, and a sense of failure at age 27 in both sexes. Similarly, the accumulation of problems of social functioning (e.g. poor financial standing, poor intimate relationships, and d…
Predictive value of the Merrill-Palmer-R Scale applied during the first year of live
2016
Resumen basado en el de la publicación Títulos, resumen y palabras clave en inglés y español El valor predictivo de una escala de desarrollo utilizado durante el primer año de vida es de gran interés en la planificación de las intervenciones tempranas. El valor predictivo de un instrumento es la probabilidad de acertar el diagnóstico de trastorno o retraso en el desarrollo de un niño. Se analizaron las puntuaciones de escala Merrill-Palmer-R (MP-R) en una muestra de 291 niños menores de un año de la Comunidad Valenciana. A pesar de que no se distribuyen normalmente las puntuaciones de la escala MP-R en esta muestra, los resultados predichos eran buenos. Además, las puntuaciones de desarroll…
THERAPEUTIC EFFICACY OF MAGNESIUM VALPROATE IN SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
2012
Succinic semialdehyde dehydrogenase deficiency (SSADHD or gammahydroxybutyric aciduria), a disorder of γ-aminobutyric acid (GABA) metabolism, manifests as a slowly progressive or static encephalopathy. The latter encompasses prominent cognitive dysfunction, neuropsychiatric morbidity and epilepsy.We report safe and effective treatment with MgVPA in an adolescent female with SSADHD and seizures refractory to a broad spectrum of antiepileptics. MgVPA therapy (20 mg/Kg/day) was introduced at 7 years based upon behavioural difficulties and EEG alterations without adverse effects. Therapy was halted at age 13 years, and reintroduced at 14 years, due to new onset complex partial seizures. EEG dem…