Background: The diagnosis of intellectual disability in children can produce complex grief-related feelings in their parents. Previous studies have focused on the moment of the diagnosis or the early life of the children, and little research has been conducted on their feelings of grief in adulthood. The objective was to analyse the process of grief/loss in parents of adult offspring with intellectual disability.
Method: The intentional sampling included sixteen parents who responded to semi-structured interviews. A qualitative study was conducted based on grounded theory.
Results: Five categories were identified: "Reception of the diagnosis", "Emotional bonds with the child", "Experience of loss and feelings in response to intellectual disability diagnosis", "Recurrent grief" and "Coping strategies".
Conclusions: Recurring feelings of loss experienced by parents in relation to their child's diagnosis persist over time. Specialized emotional interventions are needed to help parents to reduce the intensity of their feelings of grief.
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http://dx.doi.org/10.1111/jar.12842 | 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.
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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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