Search results for "Developmental Disorder"
showing 10 items of 147 documents
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome
2022
Wiedemann–Steiner syndrome (WDSTS) is a Mendelian syndromic intellectual disability (ID) condition associated with hypertrichosis cubiti, short stature, and characteristic facies caused by pathogenic variants in the KMT2A gene. Clinical features can be inconclusive in mild and unusual WDSTS presentations with variable ID (mild to severe), facies (typical or not) and other associated malformations (bone, cerebral, renal, cardiac and ophthalmological anomalies). Interpretation and classification of rare KMT2A variants can be challenging. A genome-wide DNA methylation episignature for KMT2A-related syndrome could allow functional classification of variants and provide insights into the pathoph…
Explicit Oral Narrative Intervention for Students with Williams Syndrome
2018
Narrative skills play a crucial role in organizing experience, facilitating social interaction and building academic discourse and literacy. They are at the interface of cognitive, social, and linguistic abilities related to school engagement. Despite their relative strengths in social and grammatical skills, students with Williams syndrome (WS) do not show parallel cognitive and pragmatic performance in narrative generation tasks. The aim of the present study was to assess retelling of a TV cartoon tale and the effect of an individualized explicit instruction of the narrative structure. Participants included eight students with WS who attended different special education levels. Narratives…
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…
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
2021
AbstractPurposeHeterozygous variants in BCL11A underlie an intellectual developmental disorder with persistence of fetal hemoglobin (BCL11A-IDD, a.k.a. Dias-Logan syndrome). We sought to delineate the genotypic and phenotypic spectrum of BCL11A-IDD.MethodsWe performed an in-depth analysis of 42 patients with BCL11A-IDD ascertained through a collaborative network of clinical and research colleagues. We also reviewed 33 additional affected individuals previously reported in the literature or available through public repositories with clinical information.ResultsMolecular and clinical data analysis of 75 patients with BCL11A-IDD identified 60 unique variants (30 frameshift, 7 missense, 6 splic…
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…
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…
Motor problems in children with early-treated congenital hypothyroidism: A matter of failing cerebellar motor control?
1998
This study addresses the question of whether "clumsiness" in children with early treated Congenital Hypothyroidism (CH) might be attributable to cerebellar dysfunction. CH is known to affect rapid perinatal growth of the cerebellum. If this would affect the supposed motor timing function of the cerebellum this should be especially reflected by difficulty in producing fast aiming movements. An experiment was devised in which children made sequences of fast, goal directed movements in order to examine two aspects of fast voluntary movements that are known to be affected by cerebellar injury: dysmetria and dysdiadochokinesis. Three groups of children between the ages of 9 and ii participated: …
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…