Results 141 to 150 of about 3,449,855 (345)

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

Laryngeal Framework Surgery for Treatment of Functional Voice Disorders.

, 2000
Shigeru Hirano, Hisayoshi Kojima, Kazuhiko Shoji, Ken-ichi Kaneko, Ichiro Tateya   +4 more
openalex   +2 more sources

Auditory-Perceptual Evaluation of Disordered Voice Quality [PDF]

, 2009
Jennifer Oates
openalex   +1 more source

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

New Voice Treatment Applying Lombard Effect for Hypofunctional Voice Disorder in Cerebrovascular Disease. Weighted Noise Voice Treatment and its Effectiveness.

, 2002
Nobuo Takahashi, Yuka Sasaki, Hirotatsu Takahashi, Masaaki Nagafuchi   +3 more
openalex   +2 more sources

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

A Cross‐sectional Survey of Voice Disorders among Primary School Teachers in Hong Kong [PDF]

, 2010
Sophie Yick‐yu Lee, Xiang Qian Lao, I. Yu   +2 more
openalex   +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

Acoustic fidelity of internet bandwidths for measures used in speech and voice disorders [PDF]

, 2010
Steve An Xue, A. R. M. Lower
openalex   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source