Results 131 to 140 of about 171,514 (309)

Adverse Childhood Experiences of Disabled Children and Youth Resulting from Ableist Judgments and Disablist Treatments: A Scoping Review

open access: yesYouth
Adverse childhood experiences (ACEs) are negative but preventable experiences within family and social environments. Originally focused on abuse and household dysfunction, ACE indicators now include many social factors, such as social determinants of ...
Gregor Wolbring, Parneet Dhindsa
doaj   +1 more source

Psychological correlates of well-being in direct care staff in services for children with intellectual disabilities and challenging behaviour

open access: yes, 2009
Working with people with learning disabilities can be stressful for direct care staff; as many as one-third of staff members in adult services experience stress levels indicative of a mental health problem.
Jenkins, Kate
core  

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide   +10 more
wiley   +1 more source

Do children participate in the activities they prefer? A comparison of children and youth with and without physical disabilities

open access: yes, 2014
Objective: To assess the discrepancy between the leisure activities children prefer and the leisure activities they actually participate in, for children with and without a physical disability, and to explore how in both groups this is related to age and
Verschuren, O.   +6 more
core   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli   +18 more
wiley   +1 more source

Melatonin Levels in 89 Individuals With Smith Magenis Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In patients with Smith–Magenis syndrome (SMS), an inverted circadian rhythm of melatonin (MT) contributes to the sleep disturbance. Standard treatment of sleep disturbance with MT often leads to extremely high daytime MT levels, resulting in even more sleep disorders. We therefore retrospectively evaluated the MT data of 89 SMS patients.
Wiebe Braam, Ann C. M. Smith
wiley   +1 more source

Conducting qualitative research with people with learning, communication and other disabilities: methodological challenges [PDF]

open access: yes, 2008
This methodological paper reviews the research literature and discusses the issues that arise in conducting qualitative research with people for whom traditional methods of qualitative research might present challenges for researchers.
Nind, Melanie
core  

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli   +11 more
wiley   +1 more source

Job satisfaction amongst special education teachers

open access: yesОбразование и наука
Introduction. The level of job satisfaction and attitudes of special education teachers towards working with children with disabilities significantly impact the attitudes of trained student teachers.
Z. S. Alkayed   +2 more
doaj   +1 more source

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