Living in the community does not, in and of itself, guarantee social integration and inclusion for persons with intellectual disability. Social life and leisure participation can indicate the beginning of such a process and its impact on the quality of life. The present study investigated the social life quality of persons with intellectual disability who live in community settings or with foster families and its impact on their quality of life. The sample consisted of 85 adults with intellectual disability, ranging in age from 18 to 55 years. Forty-five of them lived in community residential settings and 40 lived with foster families in Israel. Five questionnaires were used: 1) a demographic questionnaire; 2) Quality of Life Questionnaire; 3) the Revised UCLA Loneliness Scale; 4) Social Relationships List; and 5) Leisure Activities List. The main findings showed no significant differences between the two groups in social life or feelings of loneliness. Foster residents were more involved and more independent in their leisure activities than were those who lived in community residences. An association between social life and quality of life was partly confirmed. The need for intervention programs and leisure education programs is discussed.
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http://dx.doi.org/10.1590/s0036-36342008000800016 | DOI Listing |
Medicine (Baltimore)
January 2025
Department of Neonatal, Children's Hospital Affiliated to Shandong University/Jinan Children's Hospital, Jinan, Shandong, China.
Rationale: PCDH19-related epilepsy manifested various clinical features, including febrile epilepsy, with or without intellectual disability, and psych-behavioral disorders. However, there are few studies demonstrating abdominal pain as the first symptom.
Patient Concerns: A 3-year-old Chinese girl presented with clustered seizures of fever sensitivity accompanied by abdominal pain.
Paediatr Drugs
January 2025
Springer Nature, Private Bag 65901, Mairangi Bay, Auckland, 0754, New Zealand.
Oral ganaxolone (ZTALMY), a synthetic analogue of the endogenous neuroactive steroid allopregnanolone, acts as a positive allosteric modulator of synaptic and extra-synaptic γ-aminobutyric acid (GABA) type A receptor function in the CNS. In the EU and the UK, it is approved for the adjunctive treatment of epileptic seizures associated with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) in patients aged 2-17 years. In a multinational phase III study (Marigold), 17 weeks' therapy with adjunctive ganaxolone, administered orally three times daily with food, significantly reduced 28-day major motor seizure frequency from baseline versus placebo in patients aged 2-19 years with CDD-associated refractory epilepsy.
View Article and Find Full Text PDFACS Chem Neurosci
January 2025
Laboratory for Innovative Drugs (Lab4IND), Computational Drug Design Center (HITMER), Bahçeşehir University, 34734 İstanbul, Türkiye.
is implicated in a range of conditions, including autism spectrum disorder, intellectual disability, seizures, autosomal recessive nonsyndromic intellectual disability, heterotaxy, and ciliary dysfunction. In order to understand the molecular mechanisms underlying these conditions, we focused on the structural and dynamic activity consequences of mutations within this gene. In this study, whole exome sequencing identified the c.
View Article and Find Full Text PDFCureus
December 2024
Pharmacy, Punjab University College of Pharmacy, Lahore, PAK.
Berardinelli-Seip congenital lipodystrophy (BSCL), also known as congenital generalized lipodystrophy (CGL), is an exceptionally rare autosomal recessive disorder marked by a significant deficiency of adipose tissue throughout the body. This lack of adipose tissue, normally found beneath the skin and between internal organs, leads to impaired adipocyte formation and fat storage, causing lipids to accumulate in atypical tissues such as muscles and the liver. The extent of adipose tissue loss directly influences the severity of symptoms, which can include a muscular appearance, increased appetite, bone cysts, marrow fat depletion, acromegalic features, severe insulin resistance, skeletal muscle hypertrophy, hypertrophic cardiomyopathy, hepatic steatosis, hepatomegaly, cirrhosis, and intellectual disability.
View Article and Find Full Text PDFPrevention of sexual assault in intellectual disability (ID) begins with defining the problem. There are identified risk factors and barriers faced by adults with ID who experience sexual assault. Research shows that individuals with ID are victimized by sexual assault at rates substantially higher than the general population.
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