Background: Adults with intellectual and developmental disabilities and their families have high need for support services. This study assessed resource utilization among caregivers of intellectual and developmental disabilities and other conditions.
Methods: We assessed 366 caregivers of adults with intellectual and developmental disabilities, dementia or other conditions Regressions assessed group differences in number of agency contacts and frequency of service use. A secondary analysis assessed reasons for underutilization of services.
Results: Caregivers of individuals with dementia contacted twice as many agencies as other caregivers and were more likely to report using suggested services. Agency contact and service utilization were similar among caregivers of adults with intellectual and developmental disabilities compared to other caregivers. Caregivers of adults with intellectual and developmental indicated that suggested services were unavailable to them.
Conclusion: The findings of this study shed light on challenges with access to and utilization of support services.
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http://dx.doi.org/10.1111/jar.12889 | DOI Listing |
Epilepsia
January 2025
Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.
Objectives: Developmental and epileptic encephalopathies (DEEs) caused by pathogenic variants in SCN8A are associated with difficult-to-treat and early-onset seizures, developmental delay/intellectual disability, impaired quality of life, and increased risk of early mortality. High doses of sodium channel blockers are typically used to treat SCN8A-DEE caused by gain-of-function (GoF) variants. However, seizures are often drug resistant, and only a few patients achieve seizure freedom.
View Article and Find Full Text PDFAm J Med Genet A
January 2025
Medical Genetics and Genomic Medicine-Department of Translational Medicine, School of Medical Sciences, Campinas, Brazil.
Myhre syndrome is a rare disorder caused by pathogenic gain-of-function variants in the SMAD4 gene. Most of the patients have had de novo variants. There are several instances of autosomal dominant inheritance, and penetrance appears to be complete.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
January 2025
Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON K1H 8L6.
Although chromatin remodelers are among the most important risk genes associated with neurodevelopmental disorders (NDDs), the roles of these complexes during brain development are in many cases unclear. Here, we focused on the recently discovered ChAHP chromatin remodeling complex. The zinc finger and homeodomain transcription factor ADNP is a core subunit of this complex, and de novo mutations lead to intellectual disability and autism spectrum disorder.
View Article and Find Full Text PDFAlzheimers Dement
January 2025
Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.
Introduction: Alzheimer's disease (AD) in Down syndrome (DS) is associated with changes in brain structure. It is unknown if thickness and volumetric changes can identify AD stages and if they are similar to other genetic forms of AD.
Methods: Magnetic resonance imaging scans were collected for 178 DS adults (106 nonclinical, 45 preclinical, and 27 symptomatic).
Ther Adv Rare Dis
January 2025
SynGAP Research Fund, 2856 Curie Pl., San Diego, CA 92122, USA.
-related disorder (SRD) is a developmental and epileptic encephalopathy caused by a disruption of the gene. At the beginning of 2024, it is one of many rare monogenic brain disorders without disease-modifying treatments, but that is changing. This article chronicles the last 5 years, beginning when treatments for SRD were not publicly in development, to the start of 2024 when many SRD-specific treatments are advancing.
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