Results 231 to 240 of about 2,439,831 (282)

Quality of Life of Families Who Have Children With Cornelia de Lange Syndrome in Brazil: Opportunities for Improvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This exploratory cross‐sectional study aimed to estimate the family quality of life (FQoL) among 70 Brazilian families with children with Cornelia de Lange syndrome (CdLS). Data were collected using sociodemographic and clinical data forms, the Barthel index for activities of daily living, and the Beach Center FQoL Scale, a 5‐point Likert tool
Aline Apis, Beatriz Carvalho Nunes, Thainá Vilella, Rafaela Catelan Martins Pereira, Rui Fernando Pilotto, Lucimar Retto da Silva de Avó, Maria Isabel Melaragno, Carla Maria Ramos Germano, Débora Gusmão Melo   +8 more
wiley   +1 more source

Validating the Finnish Child and Teen Versions of the Food Allergy Quality of Life Questionnaire. [PDF]

Acta Paediatr
Kivistö JE, Saarimäki L, Ojaniemi I, Protudjer JLP, Huhtala H, Galvin AD, Karjalainen J, de Blok BF.   +7 more
europepmc   +1 more source

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

Prediction of Speech Impairment in Patients Treated for Oral or Oropharyngeal Cancer Using Automatic Speech Analysis. [PDF]

Int J Lang Commun Disord
Balaguer M, Pinquier J, Farinas J, Woisard V.   +3 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

Danish translation and cultural adaption of the Person-Centred Practice Inventory-Staff and Person-Centred Practice Inventory-Care questionnaires. [PDF]

Front Health Serv
Rosted E, Kjerholt M, Hølge-Hazelton B, McCance T, McCormack B, Thomsen T.   +5 more
europepmc   +1 more source

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

American 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

Quality of life following ileostomy takedown: single-centre, retrospective clinical trial-does closure time matter? [PDF]

Tech Coloproctol
Didrikaite G, Klimovskij M, Civilka I, Buckus B, Aukstikalnis T, Sileika E, Dulskas A.   +6 more
europepmc   +1 more source

Outcomes from a Novel Approach to Studying Consumer Genetic Testing for Germline Cancer and Cardiovascular Risk

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Despite the growing availability of consumer genetic testing for serious disease risks, outcomes data remain limited for individuals undergoing testing for high‐ and moderate‐penetrance genes. To address this gap, we evaluated the feasibility of the Consumer Genetic Testing Outcomes Evaluation Paradigm (CGT‐OEP), a novel approach for studying ...
Madison K. Kilbride, Daniel Chavez‐Yenter, Bob Wong, J. Scott Roberts, Jacqueline Park, Jason Iuliano, Angela R. Bradbury   +6 more
wiley   +1 more source

Human Factors: Affect Everyone, Involve Everyone. [PDF]

Clin Teach
Alcock A, Addy C, Al-Mudhaffar M, Jenkins M, Cotter M, Edwards M.   +5 more
europepmc   +1 more source