Intellectual disability (ID) persists from birth through adulthood and aging. Thus, the support provided to individuals with intellectual disabilities (IwID) in adulthood is essential to increase their self-determination and quality of life. This research aimed to determine how IwID may receive support for education, working life, accommodation, and leisure in adulthood in the Turkish context by increasing their and their families' quality of life without socially discriminating against them. Qualitative data were collected in two stages, combining semi-structured interviews and the Delphi study technique. Results prompted the recommendation that a legal basis for transition-to-adulthood planning be established in Turkey for a functional adult service model. Next, a model with specific standards by which multidisciplinary experts analyse education, work, leisure, and housing alternatives for preadulthood and adulthood should be developed and coordinated by the Turkish Ministry of National Education and the Ministry of Family. Implications for the future are further discussed.
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http://dx.doi.org/10.1080/20473869.2022.2058782 | DOI Listing |
Proc Natl Acad Sci U S A
January 2025
Shenzhen Key Laboratory of Biomolecular Assembling and Regulation, Department of Neuroscience, School of Life Sciences, Southern University of Science and Technology, Shenzhen 518055, China.
Ankyrin Repeat Domain-containing Protein 11 () is a causative gene for KBG syndrome, a significant risk factor for Cornelia de Lange syndrome (CdLS), and a highly confident autism spectrum disorder gene. Mutations of lead to developmental abnormalities in multiple organs/tissues including the brain, craniofacial and skeletal bones, and tooth structures with unknown mechanism(s). Here, we find that ANKRD11, via a short peptide fragment in its N-terminal region, binds to the cohesin complex with a high affinity, implicating why mutation can cause CdLS.
View Article and Find Full Text PDFJ Appl Genet
January 2025
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Koodakyar Avenue, Daneshjoo Blvd, Evin, Tehran, 1985713834, Iran.
Perrault syndrome (PS) is an extremely rare autosomal recessive condition characterized primarily by bilateral sensorineural hearing loss in both genders and primary or secondary ovarian failure in females. Neurological features such as cerebral ataxia, peripheral neuropathy, epilepsy, and intellectual disability are frequent manifestations of PS. To date, six genes have been reported to cause PS, and nearly 100 families have been identified worldwide with this syndrome.
View Article and Find Full Text PDFJAAPA
February 2025
Seth Metzler practices at Salina (Kans.) Family Healthcare Center. Gina R. Brown practices at Choice Medical Clinic in Wichita, Kans. The authors have disclosed no potential conflicts of interest, financial or otherwise.
Prader-Willi syndrome is a rare and complex genetic disorder with multiple physical and behavioral characteristics, affecting endocrine, metabolic, and neurologic systems and producing a plethora of medical complications. Early identification and diagnosis are paramount to providing timely and appropriate interventions to improve patient outcomes. Treatment should focus on neonatal feeding and growth, followed by hormonal therapy for hypothalamic dysfunction, and should then be directed at the prevention and treatment of obesity and obesity-related complications.
View Article and Find Full Text PDFClin Genet
January 2025
Programa de Pós-graduação em Ciências da Saúde, Universidade de Brasília, Brasília, Brazil.
Silver-Russell Syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction. Most cases are caused by an imprinting error either with hypomethylation of the Imprinted Control Region 1 at 11p15.5, or maternal uniparental disomy of chromosome 7.
View Article and Find Full Text PDFDev Med Child Neurol
January 2025
Speech and Language, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
Aim: To examine the adaptive behaviour profiles of children with monogenic neurodevelopmental disorders (NDDs) to determine whether syndrome-specific or transdiagnostic approaches provide a better understanding of the adaptive behavioural phenotypes of these NDDs.
Method: This cross-sectional study included parents and caregivers of 243 (48% female) individuals (age range = 1-25 years; mean = 8 years 10 months, SD = 5 years 8 months) with genetically confirmed monogenic NDDs (CDK13, DYRK1A, FOXP2, KAT6A, KANSL1, SETBP1, BRPF1, and DDX3X). Parents and caregivers completed the Vineland Adaptive Behavior Scales, Third Edition to assess communication, daily living, socialization, and motor skills.
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