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Developmental Disabilities Research Reviews

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https://www.readbyqxmd.com/read/23949832/health-functioning-and-participation-of-adolescents-and-adults-with-cerebral-palsy-a-review-of-outcomes-research
#1
REVIEW
Dana Frisch, Michael E Msall
With medical advances, more individuals with cerebral palsy (CP) syndromes who reside in developed countries are surviving to adolescence and adulthood. However, there continues to be a paucity of research examining long-term health, functional activities, and participatory outcomes over their life-course. This article reviews the current literature assessing adult outcomes for individuals with CP within the framework of the International Classification of Functioning (ICF), Disability, and Health model of enablement...
2013: Developmental Disabilities Research Reviews
https://www.readbyqxmd.com/read/23949831/aging-in-rare-intellectual-disability-syndromes
#2
REVIEW
Elisabeth M Dykens
This review highlights several methodological challenges involved in research on aging, health, and mortality in adults with rare intellectual disability syndromes. Few studies have been performed in this area, with research obstacles that include: the ascertainment of older adults with genetic versus clinical diagnoses; likelihood that adults will not receive adequate health care and referrals to genetic specialists; cohort differences related to generational and treatment effects; and increased mortality and selective survival biases...
2013: Developmental Disabilities Research Reviews
https://www.readbyqxmd.com/read/23949830/fragile-x-syndrome-an-aging-perspective
#3
Andrea Schneider, Andrew Ligsay, Randi J Hagerman
Cognitive and behavioral correlates of molecular variations related to the FMR1 gene have been studied rather extensively, but research about the long-term outcome in individuals with fragile X spectrum disorders remains sparse. In this review, we present an overview of aging research and recent findings in regard to cellular and clinical manifestations of aging in fragile X syndrome, and the FMR1 premutation.
2013: Developmental Disabilities Research Reviews
https://www.readbyqxmd.com/read/23949829/atypical-aging-in-down-syndrome
#4
REVIEW
Warren B Zigman
At present, there may be over 210,000 people with Down syndrome (DS) over the age of 55 in the United States (US) who have significant needs for augmented services due to circumstances related to ordinary and/or pathological aging. From 1979 through 2003, the birth prevalence of DS rose from 9.0 to 11.8 (31.1%) per 10,000 live births in 10 representative US regions. This increase, largely due to women conceiving after age 35, portends an ever-growing population of people with DS who may be subject to pathogenic aging...
2013: Developmental Disabilities Research Reviews
https://www.readbyqxmd.com/read/23949828/aging-and-intellectual-disability-insights-from-mouse-models-of-down-syndrome
#5
REVIEW
Aarti Ruparelia, Matthew L Pearn, William C Mobley
Down syndrome (DS) is one of many causes of intellectual disability (ID), others including but not limited to, fetal alcohol syndrome, Fragile X syndrome, Rett syndrome, Williams syndrome, hypoxia, and infection. Down syndrome is characterized by a number of neurobiological problems resulting in learning and memory deficits and early onset Alzheimer's disease. The cognitive impairment in people with DS is virtually universal but varies considerably with respect to expressivity and severity. Significant advances in medical treatment and social inclusion have increased longevity in people with DS resulting in an increased aging population, thus highlighting the significance of early onset of dementia and the importance of identifying pharmacotherapies to treat DS-associated health complications in adults...
2013: Developmental Disabilities Research Reviews
https://www.readbyqxmd.com/read/23949827/dementia-and-mild-cognitive-impairment-in-adults-with-intellectual-disability-issues-of-diagnosis
#6
REVIEW
Sharon J Krinsky-McHale, Wayne Silverman
Individuals with intellectual disability (ID) are now living longer with the majority of individuals reaching middle and even "old age." As a consequence of this extended longevity they are vulnerable to the same age-associated health problems as elderly adults in the general population without ID. This includes dementia, a general term referring to a variety of diseases and conditions causing substantial loss of cognitive ability and functional declines; adults with Down syndrome are at especially high risk...
2013: Developmental Disabilities Research Reviews
https://www.readbyqxmd.com/read/23949826/promoting-healthy-aging-in-adults-with-developmental-disabilities
#7
REVIEW
Tamar Heller, Amy Sorensen
This article reviews the research on health promotion for adults aging with developmental disabilities. First, it examines barriers to healthy aging, including health behaviors and access to health screenings and services. Second, it reviews the research on health promotion interventions, including physical activity interventions, health education interventions, and health care and screening preventive services. This review found evidence that the three types of health promotion interventions, physical activity and exercise, health education and mixed approaches, and health care and screening services can play a role in reducing health disparities for adults with developmental disabilities...
2013: Developmental Disabilities Research Reviews
https://www.readbyqxmd.com/read/23949825/frailty-and-intellectual-disability-a-different-operationalization
#8
REVIEW
Heleen Evenhuis, Josje Schoufour, Michael Echteld
Frailty is increasingly being recognized as a relevant health measure in older populations, associated with an increased risk of adverse health outcomes and care dependency. Because it is generally perceived that people with intellectual disabilities are "old" from age 50 onwards, frailty research in this group might lead to an understanding of factors, contributing to this perception. The development since the 1990s of conceptual and operational definitions of frailty has resulted in different approaches: biological (phenotype), multidimensional, and non-specific deficit accumulation...
2013: Developmental Disabilities Research Reviews
https://www.readbyqxmd.com/read/23949824/people-with-intellectual-disability-what-do-we-know-about-adulthood-and-life-expectancy
#9
REVIEW
A M W Coppus
Increases in the life expectancy of people with Intellectual Disability have followed similar trends to those found in the general population. With the exception of people with severe and multiple disabilities or Down syndrome, the life expectancy of this group now closely approximates with that of the general population. Middle and old age, which until 30 years ago were not recognized in this population, are now important parts of the life course of these individuals. Older adults with Intellectual Disabilities form a small, but significant and growing proportion of older people in the community...
2013: Developmental Disabilities Research Reviews
https://www.readbyqxmd.com/read/23949823/editorial-special-issue-on-adult-development-and-aging-with-idd
#10
EDITORIAL
Wayne Silverman, Marsha R Mailick
No abstract text is available yet for this article.
2013: Developmental Disabilities Research Reviews
https://www.readbyqxmd.com/read/23798015/neuroimaging-of-lipid-storage-disorders
#11
REVIEW
Deborah Rieger, Sarah Auerbach, Paul Robinson, Andrea Gropman
Lipid storage diseases, also known as the lipidoses, are a group of inherited metabolic disorders in which there is lipid accumulation in various cell types, including the central nervous system, because of the deficiency of a variety of enzymes. Over time, excessive storage can cause permanent cellular and tissue damage. The brain is particularly sensitive to lipid storage as the contents of the central nervous system must occupy uniform volume, and any increases in fluids or deposits will lead to pressure changes and interference with normal neurological function...
2013: Developmental Disabilities Research Reviews
https://www.readbyqxmd.com/read/23798014/neuropsychological-outcomes-in-fatty-acid-oxidation-disorders-85-cases-detected-by-newborn-screening
#12
Susan E Waisbren, Yuval Landau, Jenna Wilson, Jerry Vockley
Mitochondrial fatty acid oxidation disorders include conditions in which the transport of activated acyl-Coenzyme A (CoA) into the mitochondria or utilization of these substrates is disrupted or blocked. This results in a deficit in the conversion of fat into energy. Most patients with fatty acid oxidation defects are now identified through newborn screening by tandem mass spectrometry. With earlier identification and preventative treatments, mortality and morbidity rates have improved. However, in the absence of severe health and neurological effects from these disorders, subtle developmental delays or neuropsychological deficits have been noted...
2013: Developmental Disabilities Research Reviews
https://www.readbyqxmd.com/read/23798013/the-neuronal-ceroid-lipofuscinoses
#13
REVIEW
Michael J Bennett, Dinesh Rakheja
The neuronal ceroid-lipofuscinoses (NCL's, Batten disease) represent a group of severe neurodegenerative diseases, which mostly present in childhood. The phenotypes are similar and include visual loss, seizures, loss of motor and cognitive function, and early death. At autopsy, there is massive neuronal loss with characteristic storage in remaining neurons. Neurons appear to die because of increased rates of apoptosis and altered autophagy. Ten genes have been identified so far that result in an NCL (CLN1-10)...
2013: Developmental Disabilities Research Reviews
https://www.readbyqxmd.com/read/23798012/newborn-screening-for-lysosomal-storage-disorders-and-other-neuronopathic-conditions
#14
REVIEW
Dietrich Matern, Devin Oglesbee, Silvia Tortorelli
Newborn screening (NBS) is a public health program aimed at identifying treatable conditions in presymptomatic newborns to avoid premature mortality, morbidity, and disabilities. Currently, every newborn in the Unites States is screened for at least 29 conditions where evidence suggests that early detection is possible and beneficial. With new or improved treatment options and development of high-throughput screening tests, additional conditions have been proposed for inclusion into NBS programs. Among those are several conditions with a strong neuronopathic component...
2013: Developmental Disabilities Research Reviews
https://www.readbyqxmd.com/read/23798011/neuronopathic-lysosomal-storage-diseases-clinical-and-pathologic-findings
#15
REVIEW
Carlos E Prada, Gregory A Grabowski
BACKGROUND: The lysosomal-autophagocytic system diseases (LASDs) affect multiple body systems including the central nervous system (CNS). The progressive CNS pathology has its onset at different ages, leading to neurodegeneration and early death. METHODS: Literature review provided insight into the current clinical neurological findings, phenotypic spectrum, and pathogenic mechanisms of LASDs with primary neurological involvement. CONCLUSIONS: CNS signs and symptoms are variable and related to the disease-specific underlying pathogenesis...
2013: Developmental Disabilities Research Reviews
https://www.readbyqxmd.com/read/23798010/congenital-disorders-of-glycosylation-and-intellectual-disability
#16
REVIEW
Lynne A Wolfe, Donna Krasnewich
The congenital disorders of glycosylation (CDG) are a rapidly growing group of inborn errors of metabolism that result from defects in the synthesis of glycans. Glycosylation is a major post-translational protein modification and an estimated 2% of the human genome encodes proteins for glycosylation. The molecular bases for the current 60 disorders, affecting approximately 800 individuals, have been identified, many in the last 5 years. CDG should be considered in any multi-system syndrome or single tissue disorder not explained by the identification of another disorder...
2013: Developmental Disabilities Research Reviews
https://www.readbyqxmd.com/read/23798009/sterol-metabolism-disorders-and-neurodevelopment-an-update
#17
REVIEW
Shibani Kanungo, Neelkamal Soares, Miao He, Robert D Steiner
Cholesterol has numerous quintessential functions in normal cell physiology, as well as in embryonic and postnatal development. It is a major component of cell membranes and myelin, and is a precursor of steroid hormones and bile acids. The development of the blood brain barrier likely around 12-18 weeks of human gestation makes the developing embryonic/fetal brain dependent on endogenous cholesterol synthesis. Known enzyme defects along the cholesterol biosynthetic pathway result in a host of neurodevelopmental and behavioral findings along with CNS structural anomalies...
2013: Developmental Disabilities Research Reviews
https://www.readbyqxmd.com/read/23798008/peroxisome-biogenesis-disorders-biological-clinical-and-pathophysiological-perspectives
#18
REVIEW
Nancy E Braverman, Maria Daniela D'Agostino, Gillian E Maclean
The peroxisome biogenesis disorders (PBD) are a heterogeneous group of autosomal recessive disorders in which peroxisome assembly is impaired, leading to multiple peroxisome enzyme deficiencies, complex developmental sequelae and progressive disabilities. Mammalian peroxisome assembly involves the protein products of 16 PEX genes; defects in 14 of these have been shown to cause PBD. Three broad phenotypic groups are described on a spectrum of severity: Zellweger syndrome is the most severe, neonatal adrenoleukodystrophy is intermediate and infantile Refsum disease is less severe...
2013: Developmental Disabilities Research Reviews
https://www.readbyqxmd.com/read/23798007/introduction-neurodevelopmental-issues-in-inborn-errors-of-metabolism
#19
Georgianne L Arnold, Jerry Vockley
No abstract text is available yet for this article.
2013: Developmental Disabilities Research Reviews
https://www.readbyqxmd.com/read/23362037/developmental-delay-revisited
#20
Yonata Levy
This article presents current neurobiological concepts that highlight the critical role of chronological age in determining optimal development. The role of sensitive periods, experience expectancy, gene expression, and gene-age interactions is discussed. The debate between "splitters" and "lumpers" is presented in light of the review articles in this special issue. The conclusion from this study is that in a significant proportion of cases, earlier diagnoses are possible, avoiding the all-encompassing developmental delay/global developmental delay, and opening up possibilities of early interventions...
2011: Developmental Disabilities Research Reviews
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