Search results for "neurodevelopmental disorder."
showing 10 items of 102 documents
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
2017
Subtelomeric 1q43q44 microdeletions cause a syndrome associating intellectual disability, microcephaly, seizures and anomalies of the corpus callosum. Despite several previous studies assessing genotype-phenotype correlations, the contribution of genes located in this region to the specific features of this syndrome remains uncertain. Among those, three genes, AKT3, HNRNPU and ZBTB18 are highly expressed in the brain and point mutations in these genes have been recently identified in children with neurodevelopmental phenotypes. In this study, we report the clinical and molecular data from 17 patients with 1q43q44 microdeletions, four with ZBTB18 mutations and seven with HNRNPU mutations, an…
Assessment of Adult Mouse Brain Neuroanatomical Phenotypes Using Quantitative and Precision Histology
2022
Modelling human neurodevelopmental disorders is important in biomedical research since the brain cannot be easily accessed in humans. In this chapter, we describe a series of standardized procedures for the reliable analysis of neuroanatomical phenotypes (NAPs) of the adult mouse brain using quantitative 2D histological practices. Our goal is to provide the reader an experimental pipeline, ranging from experimental work through to data analysis, which can be performed in any academic research setting with or without access to a histology platform. Depending on the type of sections studied, parasagittal or coronal, the assessment of brain neuroanatomy is performed at stereotaxic sections, at…
Embracing the Complexity of Neurodevelopmental Disorders.
2021
Neurodevelopmental disorders are a group of neuropsychiatric diseases that affect the developing brain due to a complex interaction between genetic and environmental factors [...]
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…
Who says this is a modern disorder? The early history of attention deficit hyperactivity disorder.
2015
Attention-deficit hyperactivity disorder (ADHD) is a complex, heterogeneous and multifactorial neurodevelopmental disorder characterized by persistent symptoms of inattention, hyperactivity and impulsivity. Although the first clinical description of a constellation of symptoms highly resembling to what currently could be diagnosed as ADHD is generally attributed to George F Still in 1902, there are scattered but significant published historical medical, scientific and non-scientific reports, much prior to Still's lectures, of what is currently conceptualized as ADHD. The present report aimed at exploring the early history of ADHD, prior to the 20(th) century in the medical literature and in…
67 The effect of hypertensive disorders of pregnancy on the risk of attention-deficit/hyperactivity disorder in the offspring
2016
Introduction Attention-deficit/hyperactivity disorder (ADHD) is a frequent neurodevelopmental disorder. Inadequate placentation as a result of hypertensive disorders of pregnancy has been proposed to be a central mechanism of fetal neurodevelopmental comprise. Recently it has been shown that pre-eclampsia increases the risk of ADHD [Mann and McDermott, 2011] . Objectives We examined the association between hypertensive disorders of pregnancy and ADHD and behavioural difficulties among 7-year old children. We also examined whether circulating factors in serum from women with a HDP alter early patterns of fetal neural growth. Methods The study cohort consisted of 13,192 children (weighted = 1…
Intellectual disabilitiy in developmental age
2015
Intellectual disability (ID) is a neurodevelopmental dis- order characterized by deficits in intellectual and adap- tive functioning that present before 18 years of age [1]. ID is heterogeneous in etiology and encompasses a broad spectrum of functioning, disability, needs and strengths. Originally formulated in strictly psychometric terms as performance greater than 2.5 SDs below the mean on intelligence testing, the conceptualisation of ID has been extended to include defects in adaptive beha- viours [2]. The term-global developmental delay-(GDD) is usually used to describe children younger than 5-years of age who fail to meet expected developmental milestones in multiple areas of intellec…
Misunderstandings about developmental dyslexia: a historical overview
2020
Developmental dyslexia is a reading disorder unrelated to intellectual disability, inadequate teaching systems or poor motivation for schooling. The first attempts to understand such difficulty of learning to read, connected the problem to a primary ‘visual defect’. Since then, several models have been developed. In the last decades, autopsy and histopathological studies on the brain of developmental dyslexics provided neuroanatomical evidence of structural and morphological differences between the normal and dyslexic brains. Furthermore, neuroimaging studies allowed to understand the neural systems of reading and dyslexia. According to more recent studies, developmental dyslexia appears as…
Stick around: Cell–Cell Adhesion Molecules during Neocortical Development
2021
The neocortex is an exquisitely organized structure achieved through complex cellular processes from the generation of neural cells to their integration into cortical circuits after complex migration processes. During this long journey, neural cells need to establish and release adhesive interactions through cell surface receptors known as cell adhesion molecules (CAMs). Several types of CAMs have been described regulating different aspects of neurodevelopment. Whereas some of them mediate interactions with the extracellular matrix, others allow contact with additional cells. In this review, we will focus on the role of two important families of cell–cell adhesion molecules (C-CAMs), classi…
Reproducibility of Brain Responses: High for Speech Perception, Low for Reading Difficulties
2019
Neuroscience findings have recently received critique on the lack of replications. To examine the reproducibility of brain indices of speech sound discrimination and their role in dyslexia, a specific reading difficulty, brain event-related potentials using EEG were measured using the same cross-linguistic passive oddball paradigm in about 200 dyslexics and 200 typically reading 8–12-year-old children from four countries with different native languages. Brain responses indexing speech and non-speech sound discrimination were extremely reproducible, supporting the validity and reliability of cognitive neuroscience methods. Significant differences between typical and dyslexic readers were fou…