Results 211 to 220 of about 1,023,700 (329)

Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent‐Centered Website: Parental and Professional Views

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The scarcity of clinical information surrounding rare chromosome disorders poses challenges for parents and clinicians. To bridge this gap for chromosome 6 disorders, the Chromosome 6 Project collects detailed genotype and phenotype data, aiming to provide aberration‐specific phenotype information to parents via an interactive website.
Eleana Rraku   +6 more
wiley   +1 more source

Exploring Oral Health Related Quality of Life in Rett Syndrome Using Directed Content Analysis

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT No validated oral health‐related quality of life (OHRQOL) instrument currently exists for those with severe intellectual and developmental disabilities and who communicate non‐verbally. This qualitative study aimed to explore the domains that were important to the oral health‐related quality of life in individuals with Rett syndrome (RTT).
Yvonne Yee Lok Lai   +4 more
wiley   +1 more source

Parental Communication With their Children about Cancer Risk and DTC Cascade Genetic Testing: Implications for Genetic Education and Counseling

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cascade genetic testing for cancer risk can influence relatives' health outcomes, as they may benefit from risk reduction and screening. However, clinical guidelines discourage predictive genetic testing in childhood—including direct‐to‐consumer (DTC) testing.
Marcelo M. Sleiman Jr.   +14 more
wiley   +1 more source

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

open access: yesAmerican 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   +8 more
wiley   +1 more source

Social Aspects of Problematic Smartphone Use: Development and Validation of the PSSNUS and Mental Health Implications for Spanish Youth

open access: yesPsychology Research and Behavior Management
Octavio Luque-Reca,1 Carlos Marchena-Giráldez,2 Myriam Carbonell-Colomer,2 Christa Bewernick,3 Elena Bernabéu-Brotóns2 1Department of Psychology, Universidad Rey Juan Carlos, Madrid, Spain; 2Faculty of Education and Psychology, Universidad Francisco de ...
Luque-Reca O   +4 more
doaj  

The development of specific emotion comprehension components in 1285 preschool children. [PDF]

open access: yesSci Rep
Richard S   +7 more
europepmc   +1 more source

Depression Symptom Trajectories in Mothers With the FMR1 Premutation Vary by CGG Repeat Length: A Longitudinal Study of 73 Women Spanning 20–75 Years of Age

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (FXpm) are at heightened genetic vulnerability for depression, with risk compounded by the stressors of parenting a disabled child. Although risk factors persist as FXpm women age, depression in FXpm mothers during midlife and old age is poorly characterized. This study used an accelerated longitudinal design to
Jessica Klusek   +8 more
wiley   +1 more source

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