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Advances in monolingual and crosslingual automatic disability annotation in Spanish
BackgroundUnlike diseases, automatic recognition of disabilities has not received the same attention in the area of medical NLP. Progress in this...
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The role of physical activity in the association between disability and mortality among US older adults: a nationwide prospective cohort study
To examine whether physical activity can mitigate the mortality risk associated with disability in activities of daily living and instrumental...
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The puzzle of underreporting disability among tribal population in India: is it a statistical artifact or reality?
India is undergoing a demographic transition, and so is the tribal population of India. The outcome of this is ageing, and ageing is associated with...
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Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly
Microtubule associated proteins (MAPs) are widely expressed in the central nervous system, and have established roles in cell proliferation,...
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Prediction of disability-free survival in healthy older people
Prolonging survival in good health is a fundamental societal goal. However, the leading determinants of disability-free survival in healthy older...
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The Association of Intestinal Leak with Sarcopenia and Physical Disability in Patients with Various Stages of Chronic Kidney Disease
Sarcopenia is related to disease severity in chronic kidney disease (CKD) patients; however, its pathophysiology remains poorly known. We...
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Genetic and phenotypic analysis of 225 Chinese children with developmental delay and/or intellectual disability using whole-exome sequencing
Developmental delay (DD), or intellectual disability (ID) is a very large group of early onset disorders that affects 1–2% of children worldwide,...
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Novel and known minor alleles of CNTNAP2 gene variants are associated with comorbidity of intellectual disability and epilepsy phenotypes: a case–control association study reveals potential biomarkers
BackgroundNeurodevelopmental disorders are heterogeneous due to underlying multiple shared genetic pathways and risk factors. Intellectual...
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Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations
CSMD1 ( Cub and Sushi Multiple Domains 1 ) is a well-recognized regulator of the complement cascade, an important component of the innate immune...
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Description of novel variants in consanguineous Pakistani families affected with intellectual disability
BackgroundIntellectual disability (ID) is a neurodevelopmental condition, affecting 1–3% of the population. Genetic factors play a key role causing...
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Diagnostic yield of the chromosomal microarray analysis in turkish patients with unexplained development delay/ıntellectual disability(ID), autism spectrum disorders and/or multiple congenital anomalies and new clinical findings
BackgroundChromosomal microarray analysis is an essential tool for copy number variants detection in patients with unexplained developmental...
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Intellectual disability genomics: current state, pitfalls and future challenges
Intellectual disability (ID) can be caused by non-genetic and genetic factors, the latter being responsible for more than 1700 ID-related disorders....
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Genetic analysis of a child with severe intellectual disability caused by a novel variant in the FERM domain of the FRMPD4 protein
Intellectual developmental disorder, X-linked 104 (XLID104), caused by the FRMPD4 gene variant, is a rare X-linked genetic disease that primarily...
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Transient receptor potential (TRP) channels mRNA transcripts in the lumbar intervertebral discs: biomarkers for inflammation, pain, disability, and clinical outcome
Transient receptor potential (TRP) channels are widely expressed cation channels that play an essential role in mediating Ca2+ homeostasis and are...
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A novel METTL5 variant disrupting a donor splice site leads to primary microcephaly-related intellectual disability in an Iranian family: clinical features and literature review
Intellectual disability (ID) is a highly heterogeneous disorder, affecting 1–3% of the world’s population, which is associated with a significant...
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Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity
BackgroundSyndromic intellectual disability (ID) with accompanying primary microcephaly is a group of rare neurodevelopmental disorders exhibiting...
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Tissue-specific DNase I footprint analysis confirms the association of GATAD2B Q470* variant with intellectual disability
Intellectual disability (ID) is a neurodevelopmental disorder in which genetics play a key aetiological role. GATA zinc finger domain-containing 2B ( GATAD2B...
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Whole exome sequencing revealed novel variants in consanguineous Pakistani families with intellectual disability
BackgroundIntellectual disability (ID) is a heterogeneous disorder affecting 1–3% of the population. Elucidation of monogenic variants for ID is a...
