Sexuality and intellectual disability [PDF]
, 2018 People with intellectual disabilities have sexual wishes, needs and desires. This study examines this comprehensive, complex and sensitive matter. We discovered that this group does not necessarily have sexual rights. They are confronted not only with overprotection and limitations imposed by their environment but also with their own lack of skills and
openaire +2 more sources
Implementation of an evidence-based seizure algorithm in intellectual disability nursing: A pilot study [PDF]
, 2016 Based on the results of the Surrogate Decision-Making Self Efficacy Scale (Lopez, 2009), this study sought to determine if nurses working in the field of intellectual disability experience increased confidence when they implemented the “American ...
Auberry, Kathy, Cullen, Deborah
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Accurate classification of genomic variants is crucial to ensure correct diagnosis, genetic counseling, and clinical management of monogenic inherited disorders. Variant interpretation can be hindered in populations that are significantly underrepresented in large reference genomic databases, leading to genomic healthcare inequalities. Despite
Zantasha Khalid +16 more
wiley +1 more source
Exploring the relationships between costs and quality of services for adults with severe intellectual disabilities and the most severe challenging behaviours in Wales: A multivariate regression analysis [PDF]
, 2001 David Felce +3 more
openalex +1 more source
CLCN4‐Related Neurodevelopmental Condition: Characterization of Speech and Language Abilities
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Speech and language difficulties are a core feature of the CLCN4‐related neurodevelopmental condition, but these have not been well described. Here we systematically phenotype speech and language in 13 participants (10 female, aged 1 year 10 months–41 years 10 months) with pathogenic CLCN4 variants (12 missense de novo, 1 premature stop codon ...
Alexandra Garrett +4 more
wiley +1 more source
ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation. [PDF]
, 2017 ObjectiveWe aimed to generate a review and description of the phenotypic and genotypic spectra of ARHGEF9 mutations.MethodsPatients with mutations or chromosomal disruptions affecting ARHGEF9 were identified through our clinics and review of the ...
Alber, Michael +21 more
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Germline variants in DEPDC5 are a cause of familial focal epilepsy with variable foci. Affected individuals may have focal cortical dysplasia if a second brain somatic variant occurs. As access to brain tissue is limited, the second somatic hit in the brain is usually presumed if a clear pathogenic germline variant is present. Here, we present
Ala'a Alsayed +16 more
wiley +1 more source
Monitoring Change in Psychotherapy with People with Intellectual Disabilities: the Application of the Assimilation of Problematic Experiences Scale [PDF]
, 2002 Andrew R. Thompson, Nigel Beail
openalex +1 more source
Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders. [PDF]
, 2019 BACKGROUND:Neurodevelopmental disorders (NDDs) such as autism spectrum disorder, intellectual disability, developmental disability, and epilepsy are characterized by abnormal brain development that may affect cognition, learning, behavior, and motor ...
Amini, Hajar +7 more
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