Results 31 to 40 of about 2,601,816 (350)

DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature

Molecular Genetics & Genomic Medicine, 2020
Background DYRK1A‐Related Intellectual Disability Syndrome is a rare autosomal dominant condition characterized by intellectual disability, speech and language delays, microcephaly, facial dysmorphism, and feeding difficulties.
Laura E. Meissner, Ellen F. Macnamara, Precilla D'Souza, John Yang, Gilbert Vezina, Undiagnosed Diseases Network, Carlos R. Ferreira, Wadih M. Zein, Cynthia J. Tifft, David R. Adams   +9 more
doaj   +1 more source

Spectrum of Clinical Manifestations in Turkish Patients with Williams-Beuren Syndrome: A Monocentric Study

Journal of Pediatric Research, 2021
Aim:Williams-Beuren syndrome, which is characterized by dysmorphic facial features, cardiovascular findings, intellectual disability, endocrine abnormalities and a typical cognitive profile, is caused by a microdeletion in the 7q11.23 region.
Semra Gürsoy, Filiz Hazan, Cüneyt Zihni, Sezer Acar, Murat Muhtar Yılmazer, Timur Meşe, Behzat Özkan   +6 more
doaj   +1 more source

Cardiocerebral channelopathy caused by KCND3 mutation in a child: A case report

Frontiers in Pediatrics, 2022
Early repolarization syndrome is rare in children. Mutation of genes encoding ion channels could display mixed electrophysiological phenotype of Kv4.3 including both cardiac phenotype (early repolarization syndrome, atrial fibrillation) and cerebral ...
Yi Zhang, He Jiang, Xiao-mei Li
doaj   +1 more source

Screening with young offenders with an intellectual disability [PDF]

, 2012
The research suggests that young offenders with an intellectual disability (ID) may not always be identified within youth justice services. This pilot study assessed some aspects of the validity of a screening tool, the Child and Adolescent Intellectual ...
Curtis, Julie, Michie, Amanda, Murray, Aja Louise, McKenzie, Karen, Murray, George, Paxton, Donna   +5 more
core   +1 more source

The prevalence and incidence of mental ill-health in adults with autism and intellectual disabilities [PDF]

, 2008
The prevalence, and incidence, of mental ill-health in adults with intellectual disabilities and autism were compared with the whole population with intellectual disabilities, and with controls, matched individually for age, gender, ability-level, and ...
Mantry, D., Morrison, Jillian, Allan, Linda, Melville, C.A., Cooper, S.-A., Melville, Craig, Cooper, Sally-Ann, Smiley, E., Jackson, A., Smiley, Elita, Allan, L., Mantry, Dipali, Finlayson, J., Morrison, J., Jackson, Alison, Finlayson, Janet; id_orcid   +15 more
core   +1 more source

Life expectancy of people with intellectual disability: a retrospective cohort study from New South Wales, Australia

BMJ Open
Objectives To comprehensively analyse the life expectancy at birth of people with intellectual disability, including people with Down syndrome, to inform health equity and service planning.Design Retrospective cohort study.Setting Residents of New South ...
Preeyaporn Srasuebkul, Julian Trollor, Julian Trofimovs   +2 more
doaj   +1 more source

Screening for Intellectual Disability in Children: A Review of the Literature [PDF]

, 2011
BACKGROUND: Early identification of possible intellectual disability can help children and families access appropriate services and support more quickly. There has been an increasing interest in the use of screening tools for this purpose.
Megson, Paula, Paula Megson, Karen McKenzie, McKenzie, Karen   +3 more
core   +1 more source

The Role of the Immunoglobulin Superfamily of Cell Adhesion Molecules in Intellectual Disability

Cells
Immunoglobulin superfamily (IgSF) cell adhesion molecules (CAMs) are cell surface glycoproteins that play critical roles during multiple stages of synapse formation, including axon and dendrite growth and guidance, target recognition, axo-dendritic ...
Nishat Zaman, Karina Bui, Vladimir Sytnyk   +2 more
doaj   +1 more source

Mastery motivation in children with intellectual disability : Is there evidence for a Down syndrome behavioural phenotype? [PDF]

, 2015
The main purpose of the current study was to provide empirical evidence to support or refute assumptions of phenotypic deficits in motivation for children with Down syndrome. Children with moderate intellectual disability associated with etiologies other
Browning, Melissa, Cuskelly, Monica, Gilmore, Linda   +2 more
core   +1 more source

A novel UBE2A splice site variant causing intellectual disability type Nascimento

Clinical Case Reports, 2022
X‐linked intellectual disability type Nascimento (XLID) is a rare disease caused by variants in the ubiquitin‐conjugating enzyme E2A gene (UBE2A). Patients with XLID have similar phenotypes, including speech impairments, severe intellectual disability ...
Shuyuan Yan, Yanling Wang, Ying Chen, Hongxia Yuan, Xiaoni Kuang, Da Hou, Xueyi Li, Linglin Pan, Guangwen Huang, Jun He, Tuanmei Wang, Xiangwen Peng   +11 more
doaj   +1 more source