Association of Intellectual Disability With All-Cause and Cause-Specific Mortality in Sweden
Sign Up to like & getrecommendations! Published in 2021 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2021.13014
Abstract: This population-based cohort study evaluates the risks and prevalence of premature mortality in individuals with varying severity of intellectual disability in Sweden. read more here.
Keywords: sweden; cause; intellectual disability; association intellectual ... See more keywords
Sleep problems in adults with autism spectrum disorder and intellectual disability
Sign Up to like & getrecommendations! Published in 2019 at "Autism Research"
DOI: 10.1002/aur.2000
Abstract: Sleep problems (SP) are recognized as a common comorbid condition in autism spectrum disorder (ASD) and can influence core autism symptoms and mental and physical health. SPs can be lifelong and have been reported that… read more here.
Keywords: intellectual disability; autism; spectrum disorder; spectrum ... See more keywords
Negative emotion evoked by viewing snakes has a motivating effect on cognitive processing in human children with or without intellectual disability
Sign Up to like & getrecommendations! Published in 2017 at "Brain and Behavior"
DOI: 10.1002/brb3.715
Abstract: It is well known that prioritization of the processing of threatening stimuli generally induces deleterious effects on task performance. However, a study recently reported that emotion (possibly fear) evoked by viewing images of snakes exerts… read more here.
Keywords: children without; without intellectual; intellectual disability; evoked viewing ... See more keywords
The Synaptic and Neuronal Functions of the X‐Linked Intellectual Disability Protein Interleukin‐1 Receptor Accessory Protein Like 1 (IL1RAPL1)
Sign Up to like & getrecommendations! Published in 2019 at "Developmental Neurobiology"
DOI: 10.1002/dneu.22657
Abstract: Since the first observation that described a patient with a mutation in IL1RAPL1 gene associated with intellectual disability in 1999, the function of IL1RAPL1 has been extensively studied by a number of laboratories. In this… read more here.
Keywords: protein; intellectual disability; il1rapl1; neuronal functions ... See more keywords
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI‐5 intellectual disability challenge
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23823
Abstract: The Critical Assessment of Genome Interpretation‐5 intellectual disability challenge asked to use computational methods to predict patient clinical phenotypes and the causal variant(s) based on an analysis of their gene panel sequence data. Sequence data… read more here.
Keywords: pathogenic variants; intellectual disability; patient clinical; disability ... See more keywords
An intellectual disability‐associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.23976
Abstract: The human TRMT1 gene encodes an RNA methyltransferase enzyme responsible for catalyzing dimethylguanosine (m2,2G) formation in transfer RNAs (tRNAs). Frameshift mutations in TRMT1 have been shown to cause autosomal‐recessive intellectual disability (ID) in the human… read more here.
Keywords: intellectual disability; trmt1; trna modification; missense variant ... See more keywords
Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability
Sign Up to like & getrecommendations! Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24207
Abstract: The pioneering discovery research of X‐linked intellectual disability (XLID) genes has benefitted thousands of individuals worldwide; however, approximately 30% of XLID families still remain unresolved. We postulated that noncoding variants that affect gene regulation or… read more here.
Keywords: noncoding variants; different types; intellectual disability; linked intellectual ... See more keywords
Cohen syndrome: Can early‐onset recurrent infections and hypotonia provide early diagnosis and intervention for intellectual disability?
Sign Up to like & getrecommendations! Published in 2024 at "International Journal of Developmental Neuroscience"
DOI: 10.1002/jdn.10384
Abstract: Cohen syndrome is a rare disease associated with neurodevelopmental disorders, especially intellectual disability (ID), neutropenia and recurrent infections are consistently reported in cases. Neutropenia is an important part of the syndrome, as well as ID.… read more here.
Keywords: cohen syndrome; intellectual disability; recurrent infections; syndrome ... See more keywords
Pineal gland volume in children with intellectual disability
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DOI: 10.1002/jdn.10389
Abstract: Pineal gland volume (PGV), which is associated with sleep and circadian rhythm, is known to be changed in some psychiatric disorders such as major depression, mood disorders and schizophrenia. This study aimed to compare the… read more here.
Keywords: pineal gland; intellectual disability; gland volume;
Further delineation of autosomal recessive intellectual disability syndrome caused by homozygous variant of the NSUN2 gene in a chinese pedigree
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1518
Abstract: The enzyme NOP2/Sun RNA methyltransferase 2 (NSUN2) catalyzes the methylation of cytosine to 5‐methylcytosine (m5C) at position 34 of tRNA(Leu; CAA) precursors containing introns that play a vital role in spindle assembly during mitosis and… read more here.
Keywords: intellectual disability; chinese pedigree; delineation autosomal; nsun2 gene ... See more keywords
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1880
Abstract: De novo variants are a common cause to rare intellectual disability syndromes, associated with low recurrence risk. However, when such variants occur pre‐zygotically in parental germ cells, the recurrence risk might be higher. Still, the… read more here.
Keywords: intellectual disability; disability syndromes; germline mosaicism; novo variants ... See more keywords