Results 321 to 330 of about 2,778,168 (382)

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

Sleep among Brazilian adolescents before and after the COVID-19 pandemic: repeated cross-sectional and longitudinal analyses. [PDF]

BMC Pediatr
Maciel GP, de Camargo R, Lopes MVV, de Oliveira BN, da Costa BGG, Chaput JP, Silva KS.   +6 more
europepmc   +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

Associations of ADHD traits, sleep/circadian factors, depression and quality of life. [PDF]

BMJ Ment Health
Nair S, Deshpande N, Hill C, Cortese S, Van Someren EJW, Chellappa SL.   +5 more
europepmc   +1 more source

Association Between Feeding Problems and Gastrointestinal Symptoms, Language, and Developmental History in Adults With Angelman Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delays, typical facial features, ataxia, seizures, speech impairments, sleeping difficulties, and a happy demeanor. Caregivers of individuals with AS often report feeding problems, with difficulties including issues with obesity, failure to gain ...
Ciara Cassidy, Arlene Mannion, Sally Whelan, Megan Tones, Helen Heussler, Matthew Bellgard, Geraldine Leader   +6 more
wiley   +1 more source

Implications of sleep loss or sleep deprivation on muscle strength: a systematic review. [PDF]

Sleep Breath
Easow J, Bommasamudram T, Munnilari M, Adhikari R, Edwards BJ, Nayak KR, Vaishali K, Ravindrakumar A, Gallagher C, Pullinger SA.   +9 more
europepmc   +1 more source

Resolving the Diagnostic Odyssey in Inherited Retinal Dystrophies Through Long‐Read Genome Sequencing

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Inherited retinal dystrophies (IRDs) inherited are visually disabling monogenic diseases with remarkable genetic and phenotypic heterogeneity. Mutations in more than 300 different genes have been identified as disease‐causing. The genetic diagnosis of IRDs has significantly advanced with the integration of Next Generation Sequencing (NGS ...
Gerardo E. Fabian‐Morales, Vianey Ordoñez‐Labastida, William J. Rowell, Christine Lambert, Cairbre Fanslow, Alexander Robertson, Juan C. Zenteno   +6 more
wiley   +1 more source

Independent and joint associations of physical activity and a body shape index with sleep disorders in older adults with cardiometabolic multimorbidity: a cross-sectional study. [PDF]

BMC Geriatr
Li Y, Zhou H, Xu D, Wang H, Zhao Y, Jiang H.   +5 more
europepmc   +1 more source

Waking up to Australia's Sleep Health: a consensus statement from the Network of Early career Sleep researchers in Training (NEST) council of the Australasian Sleep Association. [PDF]

Sleep
Crowther ME, Gupta C, Lalor A, Lee SKM, Richardson C, Scott H, Smithies TD, Sneddon N, Sprajcer M, Varma P, Vincent GE, Walsh Z, Wanstall S.   +12 more
europepmc   +1 more source