This qualitative study explored the views of family carers about the support that their adult children with an intellectual disability had received in relation to their behaviour that challenged. There was a particular focus on positive behavioural support (PBS), although some participants spoke more generally in terms of positive approaches. Semi-structured interviews with eight family carers were analysed using inductive thematic analysis. Four key themes were identified. Good support, of which PBS was an example, was seen as both having reduced behaviours that challenged and having a wider positive impact on the quality of life of the individual and their families. Key features highlighted were: technical knowledge and skill; a strong value base of warmth, acceptance and respect; a collaborative, consistent approach; open communication; and the extension of support to the family carer when needed. It was recognised that there is a need for broad systemic change and for the application of a workforce development model that takes account of the needs of staff, carers and those working in wider systems that have contact with people with an intellectual disability.
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http://dx.doi.org/10.1111/hsc.12475 | DOI Listing |
Cureus
December 2024
Pediatric Neurology, Bahrain Defence Force Hospital, Riffa, BHR.
Super-refractory status epilepticus (SRSE) is defined as status epilepticus that persists or recurs after treatment with anesthetic agents for more than 24 hours, including cases with recurrent seizures on reduction or withdrawal of anesthetic drugs. Super-refractory status epilepticus presents a significant challenge for neurologists, particularly when standard treatments fail to achieve seizure control. Lacosamide, which has a unique mechanism involving modulating voltage-gated sodium channels by enhancing their slow inactivation, has emerged as a potential option for managing SRSE.
View Article and Find Full Text PDFInt J Dev Neurosci
February 2025
Clin Epigenetics
January 2025
Faculty of Medicine of TUD Dresden University of Technology, Institute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology, Dresden, Germany.
Autosomal dominant CDK13-related disease is characterized by congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD). Heterozygous pathogenic variants, particularly missense variants in the kinase domain, have previously been described as disease causing. Using the determination of a methylation pattern and comparison with an established episignature, we reveal the first hypomorphic variant in the kinase domain of CDK13, leading to a never before described autosomal recessive form of CHDFIDD in a boy with characteristic features.
View Article and Find Full Text PDFRes Dev Disabil
January 2025
Institute for Community Inclusion (INICO), Spain; University of Salamanca, Spain.
Background: The number of people with intellectual and developmental disabilities (IDD) living in residential settings has not changed substantially in recent years in Spain. To change this situation the project "My House: A Life in the Community" aims to promote the transition of individuals with IDD and high support needs into community settings.
Aims: This paper deepens the understanding of the underlying mechanisms responsible for the changes observed in the process of deinstitutionalization.
J Med Genet
January 2025
Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France
Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom a molecular diagnosis was not always available, or on small series. The aim of this study was to better delineate the phenotype and the natural history of AAS and to provide clues for the diagnosis and the management of the patients.
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