Search results for "Neurodevelopmental Disorders"
showing 7 items of 77 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…
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…
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…
Zaburzenia neurorozwojowe. Zmiany w podejściu teoretycznym i diagnostycznym
2019
Na potrzeby diagnozy i terapii powstały typologie medyczne o zasięgu ogólnoświatowym. Do najbardziej znanych i powszechnie stosowanych zalicza się ICD (ang. International Statistical Classification of Diseases and Related Health Problems) – Międzynarodową Statystyczną Klasyfikację Chorób i Problemów Zdrowotnych ICD oraz DSM (ang. Diagnostic and Statistical Manual of Mental Disorders) – Klasyfikację Zaburzeń Psychicznych DSM, których nowe edycje stanowią przedmiot zainteresowań autorek. W artykule wskazano światowe trendy i kierunki zmian, jakie się dokonują w obszarze terminologii i kategoryzowania zaburzeń rozwoju psychicznego (neurorozwojowych) i związanych z nimi rozwojowych zaburzeń jęz…
Autism spectrum disorder and schizophrenia – similarities between the two disorders with a case report of a patient with dual diagnosis
2023
This paper presents the genetic, molecular and neuroanatomical similarities between autism spectrum disorder (ASD) and schizophrenia using the case report of a 34-year-old female patient with a previous diagnosis of schizophrenia as an example. As a result of repeat hospitalization, expanded history, psychological testing and verification of persistent symptoms of psychopathology, a cooccurring diagnosis of autism spectrum disorder was made.