We conducted an online statewide survey of teachers of students with moderate and severe intellectual disabilities to determine the extent to which their students were included in school extracurricular and community recreation activities. For the 252 teacher respondents who indicated that their primary caseload consisted of students with significant intellectual disabilities, we report the numbers of students participating in school and community activities and the primary type of support students required to participate in each activity. Finally, we identify implications for practitioners who want to increase the participation of students with significant disabilities in school and community activities.
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| http://dx.doi.org/10.1352/1934-9556(2007)45[46:ISWMAS]2.0.CO;2 | DOI Listing |
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CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs).
Hum Genet
January 2025
Department of Biomedical Sciences, University of Padova, Padova, Italy.
The Genetics of Neurodevelopmental Disorders Lab in Padua provided a new intellectual disability (ID) Panel challenge for computational methods to predict patient phenotypes and their causal variants in the context of the Critical Assessment of the Genome Interpretation, 6th edition (CAGI6). Eight research teams submitted a total of 30 models to predict phenotypes based on the sequences of 74 genes (VCF format) in 415 pediatric patients affected by Neurodevelopmental Disorders (NDDs). NDDs are clinically and genetically heterogeneous conditions, with onset in infant age.
View Article and Find Full Text PDFBackground: Down Syndrome (DS) is the most common genetic form of intellectual disability. In recent years, there has been a significant increase in the life expectancy of individuals with DS, currently reaching the age of 60 or over. However, it has been observed that as of age 40, these individuals experience higher risk of developing dementia, and almost all of them exhibit histopathological characteristics of Alzheimer's disease (AD) in their brains.
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Alzheimers Dement
December 2024
Department of Psychiatry, University of Cambridge, Cambridge, UK.
Background: Poor sleep is emerging as an important and modifiable risk factor in the development of dementia. The hypothalamus is the only neuroanatomical site of orexin-producing neurones in the brain and modulates sleep and wakefulness behaviour. Due its small size and lack of defined contrast in conventional neuroimaging acquisitions, relatively little evidence exists as to the role of the hypothalamus in humans in neurodegeneration and sleep quality, and whether it may have mechanistic importance and biomarker candidacy.
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Alzheimers Dement
December 2024
Department of Medical Physics, University of Wisconsin-Madison School of Medicine and Public Health, Madison, WI, USA.
Background: Trisomy 21 in Down syndrome (DS) is associated with an earlier accumulation of beta-amyloid (Aβ) plaques and a higher rate of Alzheimer's Disease due to the triplication of the amyloid precursor protein gene. In this study we compare accumulation rates of Aβ measured with [C-11]PiB PET between large longitudinal cohorts of DS and neurotypical (NT) participants at a single site.
Methods: Participants imaged at the University of Wisconsin with ≥2 PiB scans and ≥2 years between scans were included in this study.
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December 2024
University of São Paulo Universidade de São Paulo, São Paulo, Brazil.
Background: The Down Syndrome (DS), also referred to as trisomy of chromosome 21, is a prevalent cause of intellectual disability and also contributes to the acceleration of aging, among other developmental and health concerns. Certain pathological characteristics shared by DS and Alzheimer's Disease (AD) indicate similar commonalities. This study aims to unravel the relationship between the canonical Wnt/pathway, the amyloid precursor protein processing, the telomere shortening in DS individuals.
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