Genetic Testing for Global Developmental Delay in Early Childhood
Sign Up to like & getrecommendations! Published in 2024 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2024.15084
Abstract: Key Points Question What are the implications of genetic testing for global developmental delay (GDD) in early childhood? Findings In this cohort study of 434 children with GDD, a diagnostic positivity rate of 61% was… read more here.
Keywords: early childhood; global developmental; developmental delay; testing global ... See more keywords
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Neurology"
DOI: 10.1002/ana.26019
Abstract: The Mediator multiprotein complex functions as a regulator of RNA polymerase II–catalyzed gene transcription. In this study, exome sequencing detected biallelic putative disease‐causing variants in MED27, encoding Mediator complex subunit 27, in 16 patients from… read more here.
Keywords: cerebellar hypoplasia; developmental delay; med27 variants; variants cause ... See more keywords
Assessing global developmental delay across instruments in minimally verbal preschool autistic children: The importance of a multi‐method and multi‐informant approach
Sign Up to like & getrecommendations! Published in 2021 at "Autism Research"
DOI: 10.1002/aur.2630
Abstract: Intellectual assessment in preschool autistic children bears many challenges, particularly for those who have lower language and/or cognitive abilities. These challenges often result in underestimation of their potential or exclusion from research studies. Understanding how… read more here.
Keywords: multi; global developmental; developmental delay; preschool autistic ... See more keywords
A novel nonsense variant in the NFE2L1 transcription factor in a patient with developmental delay, hypotonia, genital anomalies, and failure to thrive
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24337
Abstract: The NFE2L1 transcription factor (also known as Nrf1 for nuclear factor erythroid 2‐related factor‐1) is a broadly expressed basic leucine zipper protein that performs a critical role in the cellular stress response pathway. Here, we… read more here.
Keywords: developmental delay; delay hypotonia; nfe2l1 transcription; factor ... See more keywords
A novel de novo frameshift variation in the SON gene causing severe global developmental delay and seizures in a Chinese female
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Developmental Neuroscience"
DOI: 10.1002/jdn.10170
Abstract: With the rapid development of genetic detection technology, especially next‐generation sequencing, identification of the aetiology of unexplained intellectual disabilities accompanied by seizures and other dysmorphic features has become possible. The purpose of our paper is… read more here.
Keywords: delay seizures; developmental delay; novel novo; severe global ... See more keywords
Genetic basis of sleep phenotypes and rare neurodevelopmental syndromes reveal shared molecular pathways
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Neuroscience Research"
DOI: 10.1002/jnr.25180
Abstract: Sleep‐related phenotypes have been frequently reported in early on‐set epileptic encephalopathies and in developmental delay syndromes, in particular in syndromes related to autism spectrum disorder. Yet the convergent pathogenetic mechanisms between these comorbidities are largely… read more here.
Keywords: neurodevelopmental disorders; developmental delay; epileptic encephalopathies; molecular pathways ... See more keywords
Cataplexy in Patients Harboring the KCNMA1 p.N999S Mutation
Sign Up to like & getrecommendations! Published in 2020 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13024
Abstract: KCNMA1 codes for the pore-forming alpha-subunit of the voltageand calcium-sensitive potassium channel (BK channel). BK channel dysfunction has previously been implicated in paroxysmal dyskinesia. We describe 3 unrelated patients with cataplexy, all sharing the same… read more here.
Keywords: developmental delay; kcnma1; patient year; year old ... See more keywords
Exome sequencing study of partial agenesis of the corpus callosum in men with developmental delay, epilepsy, and microcephaly
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.992
Abstract: This study reports the genetic features of four Caucasian males from the Saguenay‒Lac‐St‐Jean region affected by partial agenesis of the corpus callosum (ACC) with hypotonia, epilepsy, developmental delay, microcephaly, hypoplasia, and autistic behavior. read more here.
Keywords: developmental delay; corpus callosum; study; agenesis corpus ... See more keywords
Prenatal Phenotypic Expansion: A Fetus With Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, and Brain Abnormalities (NDDRSB) and MED11 Variants
Sign Up to like & getrecommendations! Published in 2024 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6707
Abstract: Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities (NDDRSB) is an extremely rare but severe disorder. Here, we describe the case of a 24‐week‐old fetus from a Chinese family with healthy… read more here.
Keywords: neurodegeneration developmental; med11 variants; developmental delay; delay early ... See more keywords
Combined effect of polymorphisms of MTHFR and MTR and arsenic methylation capacity on developmental delay in preschool children in Taiwan
Sign Up to like & getrecommendations! Published in 2020 at "Archives of Toxicology"
DOI: 10.1007/s00204-020-02745-y
Abstract: Polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase (MTR) are related to cognitive dysfunction and mental disability. These genes, along with folate and vitamin B12 levels, are regulators of one-carbon metabolism, which synthesizes S-adenosylmethionine (SAM)… read more here.
Keywords: developmental delay; arsenic methylation; methylation capacity; delay ... See more keywords
Sociocultural risk factors for developmental delay in children aged 3–60 months: a nested case-control study
Sign Up to like & getrecommendations! Published in 2018 at "European Journal of Pediatrics"
DOI: 10.1007/s00431-018-3109-y
Abstract: Identifying children at risk for developmental delay (DD) is important for improving prognosis. In this sense, we estimated sociocultural factors that may be associated with DD in early childhood. In our nested case-control study, 95… read more here.
Keywords: developmental delay; risk; control; risk factors ... See more keywords