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 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
Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2019.103804
Abstract: Heterotrimeric G proteins are composed of α, β, and γ subunits and are involved in integrating signals between receptors and effector proteins. The 5 human Gβ proteins (encoded by GNB1, GNB2, GNB3, GNB4, and GNB5)… read more here.
Keywords: developmental delay; gnb2 variant; novo gnb2; delay ... See more keywords
The Fault in Their Stars-Accumulating Astrocytic Inclusions Associated With Clusters of Epileptic Spasms in Children With Global Developmental Delay.
Sign Up to like & getrecommendations! Published in 2017 at "Pediatric neurology"
DOI: 10.1016/j.pediatrneurol.2017.04.010
Abstract: BACKGROUND The presence of cerebral astrocytic inclusions recently has been described in a subset of children with early-onset refractory epilepsy, with or without structural brain malformations, and varying degrees of developmental delay. METHODS We describe… read more here.
Keywords: developmental delay; epileptic spasms; clusters epileptic; astrocytic inclusions ... See more keywords
An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Neurogenetics"
DOI: 10.1080/01677063.2022.2149748
Abstract: Abstract Global developmental delay (GDD) is a lifelong disability that affects 1–3% of the population around the globe. It is phenotypically variable and highly heterogeneous in terms of the underlying genetics. Patients with GDD are… read more here.
Keywords: novel homozygous; developmental delay; variant; progressive microcephaly ... See more keywords
Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features
Sign Up to like & getrecommendations! Published in 2018 at "Glycobiology"
DOI: 10.1093/glycob/cwy014
Abstract: Protein O-fucosyltransferase-1 (POFUT1) adds O-fucose monosaccharides to epidermal growth factor-like (EGF) repeats found on approximately 100 mammalian proteins, including Notch receptors. Haploinsufficiency of POFUT1 has been linked to adult-onset Dowling Degos Disease (DDD) with hyperpigmentation… read more here.
Keywords: developmental delay; likely causes; pofut1; global developmental ... See more keywords
YWHAZ variation causes intellectual disability and global developmental delay with brain malformation
Sign Up to like & getrecommendations! Published in 2022 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddac210
Abstract: Abstract YWHAZ encodes an adapter protein 14–3-3ζ, which is involved in many signaling pathways that control cellular proliferation, migration and differentiation. It has not been definitely correlated to any phenotype in OMIM. To investigate the… read more here.
Keywords: intellectual disability; ywhaz; disability; developmental delay ... See more keywords
Effects of the portage early education program on Chinese children with global developmental delay
Sign Up to like & getrecommendations! Published in 2018 at "Medicine"
DOI: 10.1097/md.0000000000012202
Abstract: Abstract Children with global developmental delay (GDD) were trained with the Portage Guide to Early Education (PGEE) program. In the treatment group, the PGEE program was performed on children with GDD (45 cases) through a… read more here.
Keywords: developmental delay; treatment; group; program ... See more keywords
A 7‐month‐old boy with global developmental delay, hypotonia, and abnormal hair
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Dermatology"
DOI: 10.1111/pde.15008
Abstract: A 7-month-old boy infant presented with global developmental delay and hypotonia of the trunk and limbs since birth. No history of seizures, feeding difficulty, or recurrent aspiration of feeds was present. He was the firstborn… read more here.
Keywords: month old; developmental delay; old boy; hypotonia ... See more keywords
Current evidence-based recommendations on investigating children with global developmental delay
Sign Up to like & getrecommendations! Published in 2017 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2016-311271
Abstract: Introduction Global developmental delay (GDD) affects 1%–3% of the population of children under 5 years of age, making it one of the most common conditions presenting in paediatric clinics; causes are exogenous, genetic (non-metabolic) or genetic… read more here.
Keywords: developmental delay; line; first line; evidence ... See more keywords
Novel frameshift mutation in the AHDC1 gene in a Chinese global developmental delay patient: A case report
Sign Up to like & getrecommendations! Published in 2022 at "World Journal of Clinical Cases"
DOI: 10.12998/wjcc.v10.i21.7517
Abstract: BACKGROUND Xia–Gibbs syndrome (XGS, OMIM: 615829), caused by mutations within the AT-Hook DNA-binding motif-containing protein 1 (AHDC1) gene (OMIM: 615790), located on the short arm of chromosome 1 within the cytogenetic band 1p36.11, contains five… read more here.
Keywords: case report; gene; ahdc1 gene; global developmental ... See more keywords