Results 141 to 150 of about 501,307 (362)

Diabetes and People with Intellectual Disability [PDF]

, 2006
Intellectual disability is present in 2.7% of the population (19). For a person to have intellectual disability, three conditions must be satisfied. The person must: - have an IQ below 70 - have deficits in at least two areas of adaptive functioning ...
Lennox, Nicholas, Rey-Conde, Therese, Tucker, Madonna   +2 more
core  

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

Sensory impairments, intellectual disability and psychiatry [PDF]

, 2001
Sue Carvill
openalex   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Chronic constipation in people with intellectual disabilities in the community: cross-sectional study

BJPsych Open
Background One-third to half of people with intellectual disabilities suffer from chronic constipation (defined as two or fewer bowel movements weekly or taking regular laxatives three or more times weekly), a cause of significant morbidity and ...
Richard Laugharne, Indermeet Sawhney, Bhathika Perera, Delia Wainwright, Paul Bassett, Briony Caffrey, Maire O'Dwyer, Kirsten Lamb, Mike Wilcock, Ashok Roy, Katy Oak, Sharon Eustice, Nick Newton, James Sterritt, Ruth Bishop, Rohit Shankar   +15 more
doaj   +1 more source

Living Arrangement Options for People with Intellectual Disabilities: A Scoping Review [PDF]

, 2014
This is one of a pair of reports prepared for the Moving Ahead Project. Its partner policy review, Mapping the National Intellectual Disability Landscape (Linehan et al., 2014), outlines current disability services, practices and policies in Ireland ...
Craig, Sarah, Kerr, Michael, Linehan, Christine, Lynch, Christy, McConkey, Roy, O'Doherty, Siobhain, Staines, Anthony, Tatlow-Golden, Mimi   +7 more
core  

Disability in Australia: intellectual disability [PDF]

This bulletin presents an overview of prevalence of intellectual disability and its related impairments, health conditions and activity limitations. People with an intellectual disability represent a very significant client group of disability services ...

core  

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single‐Center Experience

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan, Andrew M. George, Evan R. Hathaway, Carlyn Glatts, Jennifer M. Kalish   +4 more
wiley   +1 more source

Health care and intellectual disability [PDF]

, 2001
Jean O’Hara
openalex   +1 more source

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source