Predictors of empowerment in parents of children with autism and related neurodevelopmental disorders who are undergoing genetic testing.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.1803
Abstract: BACKGROUND There is limited empirical data quantifying the utility of genetic testing for families of children with autism spectrum disorder (ASD) or related neurodevelopmental disorders (NDD). We assessed the utility of clinical chromosomal microarray analysis… read more here.
Keywords: genetic testing; family; children autism; parental empowerment ... See more keywords
Results of the First GNAO1-Related Neurodevelopmental Disorders Caregiver Survey.
Sign Up to like & getrecommendations! Published in 2021 at "Pediatric neurology"
DOI: 10.1016/j.pediatrneurol.2021.05.005
Abstract: BACKGROUND We sought to expand our knowledge of the clinical spectrum of GNAO1-related neurodevelopmental disorders through a caregiver survey reviewing medical and developmental history and development of epilepsy and movement disorders. METHODS An online survey… read more here.
Keywords: movement; survey; gnao1 related; disorders caregiver ... See more keywords
Preparing health professional students for interprofessional practice related to neurodevelopmental disabilities: a pilot program.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of interprofessional care"
DOI: 10.1080/13561820.2022.2047906
Abstract: Many health professional students have insufficient general knowledge about individuals with neurodevelopmental disabilities. Students lack the expertise required to work with this population and their families. Interprofessional practice education (IPE) programs, designed for working with… read more here.
Keywords: neurodevelopmental disabilities; related neurodevelopmental; health professional; program ... See more keywords
Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype–phenotype analysis
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Genetics"
DOI: 10.1136/jmg-2022-108713
Abstract: Background Variants in PPP2R5D, affecting the regulatory B56δ subunit of protein phosphatase 2A (PP2A), have been identified in individuals with neurodevelopmental abnormalities. However, the molecular and clinical spectra remain incompletely understood. Methods Individuals with PPP2R5D… read more here.
Keywords: neurodevelopmental disorders; ppp2r5d related; analysis; related neurodevelopmental ... See more keywords
The different clinical facets of SYN1-related neurodevelopmental disorders
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2022.1019715
Abstract: Synapsin-I (SYN1) is a presynaptic phosphoprotein crucial for synaptogenesis and synaptic plasticity. Pathogenic SYN1 variants are associated with variable X-linked neurodevelopmental disorders mainly affecting males. In this study, we expand on the clinical and molecular… read more here.
Keywords: neurodevelopmental disorders; syn1 related; syn1 variants; truncating variants ... See more keywords
Expanding the Phenotypic and Genotypic Spectrum of ARFGEF1-Related Neurodevelopmental Disorder
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Molecular Neuroscience"
DOI: 10.3389/fnmol.2022.862096
Abstract: Mono-allelic loss-of-function variants in ARFGEF1 have recently caused a developmental delay, intellectual disability, and epilepsy, with varying clinical expressivity. However, given the clinical heterogeneity and low-penetrance mutations of ARFGEF1-related neurodevelopmental disorder, the robustness of the… read more here.
Keywords: neurodevelopmental disorder; arfgef1; expanding phenotypic; related neurodevelopmental ... See more keywords
GRIN2B-related neurodevelopmental disorder: current understanding of pathophysiological mechanisms
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Synaptic Neuroscience"
DOI: 10.3389/fnsyn.2022.1090865
Abstract: The GRIN2B-related neurodevelopmental disorder is a rare disease caused by mutations in the GRIN2B gene, which encodes the GluN2B subunit of NMDA receptors. Most individuals with GRIN2B-related neurodevelopmental disorder present with intellectual disability and developmental… read more here.
Keywords: neurodevelopmental disorder; disease; grin2b related; related neurodevelopmental ... See more keywords
Correlation Analyses of Clinical Manifestations and Variant Effects in KCNB1-Related Neurodevelopmental Disorder
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2021.755344
Abstract: Objective: Vitro functional analyses of KCNB1 variants have been done to disclose possible pathogenic mechanisms in KCNB1-related neurodevelopmental disorder. “Complete or partial loss of function (LoF),” “dominant-negative (DN) effect” are applied to describe KCNB1 variant's… read more here.
Keywords: kcnb1 related; neurodevelopmental disorder; effect; related neurodevelopmental ... See more keywords
The extended clinical and genetic spectrum of CTNNB1-related neurodevelopmental disorder
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.960450
Abstract: Purpose Loss-of-function mutations of CTNNB1 have been established as the cause of neurodevelopmental disorder with spastic diplegia and visual defects. Although most patients share key phenotypes such as global developmental delay and intellectual disability, patients… read more here.
Keywords: neurodevelopmental disorder; clinical genetic; spectrum; related neurodevelopmental ... See more keywords
Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder
Sign Up to like & getrecommendations! Published in 2023 at "Genes"
DOI: 10.3390/genes14061154
Abstract: Rett Syndrome (RTT) is a neurodevelopmental disorder with a prevalence of 1:10,000 to 15,000 females worldwide. Classic Rett Syndrome presents in early childhood with a period of developmental regression, loss of purposeful hand skills along… read more here.
Keywords: neurodevelopmental disorder; atypical rtt; related neurodevelopmental; hnrnph2 related ... See more keywords