Developmental Disabilities Research Reviews最新文献

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. Even so, aging in Prader-Willi and Williams syndromes are reviewed as they reveal new insights into the phenotypic expression and treatment options for older adults with these disorders. The review ends with recommendations for future research that takes better advantage of genetic advances, changes in adult phenotypes, and ties across syndrome-specific research silos. Although aging in rare neurodevelopmental disorders is barely on the research landscape, the field stands to learn much from these older adults. © 2013 Wiley Periodicals, Inc. Dev Disabil Res Rev 2013;18:75–83.

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. A great deal of recent effort has focused on the very earliest detectable indicators of decline (and even prodromal stages of dementia-causing diseases). A condition called mild cognitive impairment (MCI) has been conceptually defined as a decline in functioning that is more severe than expected with typical brain aging but not severe enough to meet criteria for a diagnosis of dementia. Consensus criteria for both dementia and MCI have been developed for typically developing adults but are of limited applicability for adults with ID, given their pre-existing cognitive impairments. Early diagnosis will continue to be of growing importance, both to support symptomatic treatment and to prevent irreversible neuropathology when interventions are developed to slow or halt the progression of underlying disease. While the intellectual and developmental disabilities field has for some time recognized the need to develop best-practices for the diagnosis of MCI and dementia, there remains a pressing need for empirically based assessment methods and classification criteria. © 2013 Wiley Periodicals, Inc. Dev Disabil Res Rev 2013;18:31–42.

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 Wiley Periodicals, Inc. Dev Disabil Res Rev 2013;18:68–74.

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. All approaches consider disability a consequence rather than a cause of frailty. This may be different for long-disabled populations, which would have consequences for validity of frailty measures. First research shows that the different approaches are applicable to study populations with intellectual disabilities as well. Frailty as defined by both the phenotypic and deficit accumulation approach appears to develop considerably earlier and is more severe in people with intellectual disabilities than in the general older population, supporting the notion of early aging. Before any clinical implications can be outlined, health outcomes (validity), causes, and prevention of frailty should be investigated. © 2013 Wiley Periodicals, Inc. Dev Disabil Res Rev 2013;18:17–21.

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. Studies focusing primarily on physical activity and exercise tended to show improved fitness and some success in reducing obesity, reducing maladaptive behaviors, and improving alertness, though none of these studies showed longer term health benefits. The studies that took a more holistic approach by also including exercise and nutrition health education tended to show some evidence not only for changes in weight reduction but also for changes in health behavior attitudes (exercise self-efficacy, outcomes expectations, and barriers) and behaviors (e.g., dietary intake) and to a limited extent for improved life satisfaction. The literature on health screenings and services demonstrated the important role of health checks in identifying previously undetected conditions. These conditions include life threatening ones such as cancer and cardio-vascular disease, as well as less serious conditions that are often more common among adults with developmental disabilities and could be treated if caught early. © 2013 Wiley Periodicals, Inc. Dev Disabil Res Rev 2013;18:22–30.

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. Given its prevalence and established mouse models, this review will focus on ID in the DS population; specifically, the superimposed effect of aging on the complications already manifest in DS adults and the cognitive insights gained from studies on mouse models of DS. © 2013 Wiley Periodicals, Inc. Dev Disabil Res Rev 2013;18:43–50

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. Whereas Trisomy 21 is one of the most widespread genetic causes of intellectual disability (ID), it still is one of the least understood of all genetic ID syndromes. While longevity in people with DS has improved appreciably in as modest a period as 30 years, age-specific risk for mortality still is considerably increased compared both with other people with ID or with the typically developing population. The penetrance of the phenotype is widely distributed, even though a consistent genotype is assumed in 95% of the cases. Some, but not all body systems, exhibit signs of premature or accelerated aging. This may be due to both genetic and epigenetic inheritance. We now know that the long-term outcome for people with DS is not as ominous as once contemplated; a number of people with DS are living into their late 60s and 70s with few if any major signs of pathogenic aging. Alzheimer's disease (AD), a devastating disease that robs a person of their memory, abilities and personality, is particularly common in elder adults with DS, but is not a certainty as originally thought, some 20% to 30% of elder adults with DS might never show any, or at most mild signs of AD. DS has been called a mature well-understood syndrome, not in need of further research or science funding. We are only beginning to understand how epigenetics affects the phenotype and it may be feasible in the future to alter the phenotype through epigenetic interventions. This chapter is divided into two sections. The first section will review typical and atypical aging patterns in somatic issues in elder adults with DS; the second section will review the multifaceted relationship between AD and DS. © 2013 Wiley Periodicals, Inc. Dev Disabil Res Rev 2013;18:51–67.

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. Preliminary data over the last decade indicate that among adults with cerebral palsy without intellectual disability, 60–80% completed high school, 14–25% completed college, up to 61% were living independently in the community, 25–55% were competitively employed, and 14–28% were involved in long term relationships with partners or had established families. These outcomes occurred with biomedical advances in the management of spasticity, deformity, and medical co-morbidities, as well as with concurrent policy initiatives to increase access to a continuum of habilitative and education services. Although we have incomplete population data to inform comprehensive life-course planning, there are opportunities to create clinical and translational community networks with improved measures of functioning and participation that can better inform us about the factors influencing lifespan development of people with CP. © 2013 Wiley Periodicals, Inc. Dev Disabil Res Rev 2013;18:84–94.

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. How these persons grow older and how symptoms and complications of the underlying cause of the Intellectual Disability will influence their life expectancy is of the utmost importance. © 2013 Wiley Periodicals, Inc. Dev Disabil Res Rev 2013;18:6–16.