Results 181 to 190 of about 512,984 (398)

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

open access: yesAmerican 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   +6 more
wiley   +1 more source

Recent developments in healthcare for cerebral palsy [PDF]

open access: yes, 2010
Recent developments in the conceptualisation of disability (1), definition and classification of cerebral palsy (CP), treatment goals, and research on the effectiveness of interventions require synthesis for AHPs in clinical practice. A multidisciplinary
Bowers, Roy, Ross, Karyn
core  

Clinical diagnosis of progressive supranuclear palsy: The movement disorder society criteria

open access: yesMovement Disorders, 2017
Günter U. Höglinger   +46 more
semanticscholar   +1 more source

Gastrointestinal Issues in CHARGE Syndrome: Prevalence, Patterns, and Constipation‐Related Quality of Life

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal (GI) symptoms are common in CHARGE syndrome, but their frequency and characteristics remain poorly documented due to the complex nature of CHARGE syndrome. This study aimed to determine the prevalence of GI issues in CHARGE syndrome and their impact on quality of life (QoL).
Annie Kakamousias, Kim Blake
wiley   +1 more source

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear   +16 more
wiley   +1 more source

Surgical interventions for the early management of Bell's palsy [PDF]

open access: yes, 2011
Adour   +30 more
core   +2 more sources

Early, Accurate Diagnosis and Early Intervention in Cerebral Palsy: Advances in Diagnosis and Treatment

open access: yesJAMA pediatrics, 2017
I. Novak   +39 more
semanticscholar   +1 more source

Home - About - Disclaimer - Privacy