MedWorm.com provides a medical RSS filtering service. Over 6000 RSS medical sources are combined and output via different filters. This feed contains the latest items from the 'Mental Retardation and Developmental Disabilities Research Reviews' source. Sat, 10 Oct 2009 19:34:32 +0100 http://www.medworm.com/index.php?rid=1001357&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20168 No Abstract. (Source: Mental Retardation and Developmental Disabilities Research Reviews) Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=1001357 Sat, 03 Nov 2007 12:02:21 +0100 1001357 http://www.medworm.com/index.php?rid=1001366&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20176 A meta-analysis of 47 studies investigating the relationship between family-centered helpgiving practices and parent, family, and child behavior and functioning is reported. The studies included more than 11,000 participants from seven different countries. Data analysis was guided by a practice-based theory of family-centered helpgiving that hypothesized direct effects of relational and participatory helpgiving practices on self-efficacy beliefs and parent, family, and child outcomes. Results showed that the largest majority of outcomes were related to helpgiving practices with the strongest influences on outcomes most proximal and contextual to help giver/help receiver exchanges. Findings are placed in the context of a broader-based social systems framework of early childhood intervention... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=1001366 Fri, 02 Nov 2007 04:00:00 +0100 1001366 http://www.medworm.com/index.php?rid=1001365&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20175 A meta-analysis of the group intervention research for parents of children with developmental disabilities was conducted in order to characterize the efficacy of treatments in reducing depressive symptoms and other forms of psychological distress associated with stress in parents of children with developmental disabilities. An extensive search led to the identification of 17 studies which were divided into three categories for comparative purposes: parenting education studies usually based on behavioral parent training, coping skills education studies based primarily on cognitive behavioral training, and studies that combined these methods along with other support services. Studies were rated for the quality of the research designs and of the reports. Consistent positive benefits were foun... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=1001365 Fri, 02 Nov 2007 04:00:00 +0100 1001365 http://www.medworm.com/index.php?rid=1001364&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20174 The purpose of this review is to (a) document the current status of conceptualizing and measuring family outcomes related to having a member with an intellectual disability and (b) determine the extent to which family research focuses on internal family characteristics as contrasted to external family support. The reviewers collected 28 articles using the terms well-being, adaptation, family functioning, or family quality of life in the title. Results of our analyses are presented as a comparison between well-being, adaptation, and family functioning articles in one group and family quality of life articles in a second group. Both groups lacked explicit conceptual definitions, theory, and random/representative samples. The articles placed an undue emphasis on maternal participation, and te... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=1001364 Fri, 02 Nov 2007 04:00:00 +0100 1001364 http://www.medworm.com/index.php?rid=1001363&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20173 Expressed emotion (EE) is a measure of the affective relationship between two people characterized by criticism, hostility, and emotionally over-involved attitudes. Outside of the field of intellectual disabilities, there has been considerable interest in EE as an environmental marker that explains variance in the severity and/or course of a number of psychiatric disorders. Researchers have also studied EE in parents and found strong associations with children's behavior problems. In this review, we focus on the data from 11 published studies of EE in families of children and adults with intellectual disabilities. We conclude that there is evidence for the presence of high EE in some families, and that this alone should concern researchers and clinicians and set an agenda for considerable ... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=1001363 Fri, 02 Nov 2007 04:00:00 +0100 1001363 http://www.medworm.com/index.php?rid=1001362&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20177 In this study, we selectively review the theoretical and conceptual evidence for the effects of responsivity on development, discuss factors known to influence responsivity including the nature of a child's disability, and review intervention approaches intended to enhance maternal responsivity. We conclude with a set of recommendations for future research. © 2007 Wiley-Liss, Inc. MRDD Research Reviews 2007;13:330-338. (Source: Mental Retardation and Developmental Disabilities Research Reviews) Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=1001362 Fri, 02 Nov 2007 04:00:00 +0100 1001362 http://www.medworm.com/index.php?rid=1001361&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20172 Maternal depression in families having a child with a disability has been the subject of considerable research over the past 25 years. This review was designed to describe the literature on maternal depression, critique its research methodology, identify consensus findings across studies, and make recommendations for future research. A particular emphasis is on the distinction between exhibiting depressive symptoms and meeting clinical criteria for a depressive disorder, how or whether research studies made this distinction, and implications for our understanding of maternal adaptation to disability in a family member. Of the 42 articles reviewed, only eight were clinically diagnosed depression; most of them used a scale rating depressive symptoms. Across the studies, mothers of children w... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=1001361 Fri, 02 Nov 2007 04:00:00 +0100 1001361 http://www.medworm.com/index.php?rid=1001360&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20171 In this article, we review the literature on siblings of individuals with autism spectrum disorders (ASD) from a lifespan developmental perspective, from infancy through adulthood, focusing on the sibling relationship and sibling well-being. We situate this review within the larger body of research on siblings of individuals with developmental disabilities (DD) across the lifespan. We then consider the genetic aspects of ASDs and their implications for siblings. We conclude that there is an evidence of atypical social and communication development in some siblings of children with an ASD during infancy. During childhood and adolescence, siblings describe both positive and negative aspects of their sibling relationship and there is some evidence that siblings of children with an ASD may be ... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=1001360 Fri, 02 Nov 2007 04:00:00 +0100 1001360 http://www.medworm.com/index.php?rid=1001359&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20170 This article reviews recent sociocultural studies of families of children with intellectual disabilities to introduce the range of research conducted from this perspective and to highlight the methodological, conceptual, and theoretical contributions of this approach to the study of mental retardation. Sociocultural studies examine families within their cultural, historical, and sociopolitical contexts. This type of research is comparative across different cultural groups, but is not limited to such comparisons. Sociocultural studies use varied theories and methods, but they share a focus on families' coproduction of meanings and practices related to intellectual disability; families' responses and adaptations to disability; and how their understandings and experiences are shaped within la... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=1001359 Fri, 02 Nov 2007 04:00:00 +0100 1001359 http://www.medworm.com/index.php?rid=1001358&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20169 When developmental concerns arise in children, a clinical assessment focuses on the child's developmental profile to achieve three goals (1) determine diagnosis, (2) develop interventions, and (3) evaluate progress. Parents often have needs during this time that are not addressed by professionals because of the exclusive focus on the child during the evaluation. In this article, we suggest that clinicians take a "systems" approach to the assessment process by recognizing how the well being of family members can impact a child with a developmental disability. We review systems theory and its conceptualization of individual functioning and discuss how parental well-being differs according to child diagnosis. Finally we suggest a systems-based model to use during the assessment process. © 20... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=1001358 Fri, 02 Nov 2007 04:00:00 +0100 1001358 http://www.medworm.com/index.php?rid=918413&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20167 No abstract. (Source: Mental Retardation and Developmental Disabilities Research Reviews) Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=918413 Mon, 01 Oct 2007 04:00:00 +0100 918413 http://www.medworm.com/index.php?rid=918412&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20160 To understand the families of offspring with Down syndrome, this article begins by describing the change in orientation - from "negative" to "stress-and-coping" perspectives - in studies of families of offspring with disabilities. In reviewing the existing studies, mothers, fathers, and siblings cope slightly better than family members of persons with other disabilities, a phenomenon called the "Down syndrome advantage." Beyond this more general finding, however, much remains unknown. Most studies examine only parental or sibling levels of stress or coping, leaving unknown the marital, occupational, health, educational, and other "real-world" outcomes for these family members. Increased research attention is needed to understand the life-span needs of families of persons with Down syndrome... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=918412 Mon, 01 Oct 2007 04:00:00 +0100 918412 http://www.medworm.com/index.php?rid=918411&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20159 Similar to the state of the broader intellectual disabilities field, many gaps exist in the research and treatment of mental health concerns in people with Down syndrome. This review summarizes key findings on the type and prevalence of behavior and emotional problems in children, adolescents, and adults with Down syndrome. Such findings include relatively low rates of severe problems in children, and well-documented risks of depression and Alzheimer's disease in older adults. The review also considers emerging data on autism, and the paucity of studies on adolescents. Three next steps for research are highlighted, including a need to: (1) connect research on psychiatric status and diagnoses across developmental periods, including adolescence, and to examine such associated processes as so... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=918411 Mon, 01 Oct 2007 04:00:00 +0100 918411 http://www.medworm.com/index.php?rid=918410&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20166 This article briefly reviews the literature on brain-behavior connections in Down syndrome and identifies aspects of the Down syndrome behavioral phenotype that are potentially relevant to educators. Potential challenges to etiologically informed educational planning are discussed. © 2007 Wiley-Liss, Inc. MRDD Research Reviews 2007;13:262-271. (Source: Mental Retardation and Developmental Disabilities Research Reviews) Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=918410 Mon, 01 Oct 2007 04:00:00 +0100 918410 http://www.medworm.com/index.php?rid=918409&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20158 Down syndrome (DS) is associated with abnormalities in multiple organ systems and a characteristic phenotype that includes numerous behavioral features. Language, however, is among the most impaired domains of functioning in DS and, perhaps, also the greatest barrier to independent meaningful inclusion in the community. In this article, we review what is known about the extent, nature, and correlates of the language and related problems of individuals with Down syndrome. In doing so, we focus largely on the syndrome-specific features of the language phenotype, although we also consider within-syndrome variation. The review focuses on the prelinguistic foundations of language and the major components of language (i.e., vocabulary, syntax, and pragmatics). We also consider two topics in the ... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=918409 Mon, 01 Oct 2007 04:00:00 +0100 918409 http://www.medworm.com/index.php?rid=918408&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20163 Down syndrome (DS) is characterized by increased mortality rates, both during early and later stages of life, and age-specific mortality risk remains higher in adults with DS compared with the overall population of people with mental retardation and with typically developing populations. Causes of increased mortality rates early in life are primarily due to the increased incidence of congenital heart disease and leukemia, while causes of higher mortality rates later in life may be due to a number of factors, two of which are an increased risk for Alzheimer's disease (AD) and an apparent tendency toward premature aging. In this article, we describe the increase in lifespan for people with DS that has occurred over the past 100 years, as well as advances in the understanding of the occurrenc... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=918408 Mon, 01 Oct 2007 04:00:00 +0100 918408 http://www.medworm.com/index.php?rid=918407&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20156 Down syndrome is the most prevalent cause of intellectual impairment associated with a genetic anomaly, in this case, trisomy of chromosome 21. It affects both physical and cognitive development and produces a characteristic phenotype, although affected individuals vary considerably with respect to severity of specific impairments. Studies focusing on the cognitive characteristics of Down syndrome were reviewed, and while performance in most areas could be predicted based upon overall intellectual disability, relative weaknesses were consistently found to be associated with expressive language, syntactic/morphosyntactic processing, and verbal working memory. This profile of uneven deficits could result from a failure to develop typically automatic processing for speech perception and produ... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=918407 Mon, 01 Oct 2007 04:00:00 +0100 918407 http://www.medworm.com/index.php?rid=918406&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20157 Down syndrome (DS) is the most commonly identified genetic form of mental retardation and the leading cause of specific birth defects and medical conditions. Traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. DS has been estimated to occur in [sim]1 in 732 infants in the United States, although there is some evidence that variability in prevalence of estimates exist among racial/ethnic groups. Progress has been made in characterizing the specific types of chromosome errors that lead to DS and in identifying associated factors that increase the risk of chromosome 21 malsegregation, i.e., advanced maternal age and recombination. Studies to examine the variability of the presence of spe... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=918406 Mon, 01 Oct 2007 04:00:00 +0100 918406 http://www.medworm.com/index.php?rid=918405&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20165 We describe the animal model systems that were critical to this progress, review these independent breakthrough studies, and discuss the implications for therapeutic approaches suggested by each. © 2007 Wiley-Liss, Inc. MRDD Research Reviews 2007;13:215-220. (Source: Mental Retardation and Developmental Disabilities Research Reviews) Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=918405 Mon, 01 Oct 2007 04:00:00 +0100 918405 http://www.medworm.com/index.php?rid=918404&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20164 Down Syndrome (DS) caused by trisomy 21 is characterized by a variety of phenotypes and involves multiple organs. Sequencing of human chromosome 21 (HSA21) and subsequently of its orthologues on mouse chromosome 16 have created an unprecedented opportunity to explore the complex relationship between various DS phenotypes and the extra copy of [sim]300 genes on HSA21. Advances in genetics together with the ability to generate genetically well-defined mouse models have been instrumental in understanding the relationships between genotype and phenotype in DS. Indeed, elucidation of these relationships will play an important role in understanding the pathophysiological basis of this disorder and helping to develop therapeutic interventions. A successful example of using such a strategy is our ... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=918404 Mon, 01 Oct 2007 04:00:00 +0100 918404 http://www.medworm.com/index.php?rid=918403&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20162 Down syndrome (DS) is the most common genetic cause of significant intellectual disability in the human population, occurring in roughly 1 in 700 live births. The ultimate cause of DS is trisomy of all or part of the set of genes located on chromosome 21. How this trisomy leads to the phenotype of DS is unclear. The completion of the DNA sequencing and annotation of the long arm of chromosome 21 was a critical step towards understanding the genetics of the phenotype. However, annotation of the chromosome continues and the functions of many genes on chromosome 21 remain uncertain. Recent findings about the structure of the human genome and of chromosome 21, in particular, and studies on mechanisms of gene regulation indicate that various genetic mechanisms may be contributors to the phenoty... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=918403 Mon, 01 Oct 2007 04:00:00 +0100 918403 http://www.medworm.com/index.php?rid=918402&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20161 No abstract. (Source: Mental Retardation and Developmental Disabilities Research Reviews) Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=918402 Sat, 01 Sep 2007 04:00:00 +0100 918402 http://www.medworm.com/index.php?rid=663274&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20154 No abstract. (Source: Mental Retardation and Developmental Disabilities Research Reviews) Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=663274 Mon, 11 Jun 2007 04:00:00 +0100 663274 http://www.medworm.com/index.php?rid=663273&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20152 The forces shaping intellectual disability policy-making are diverse; while many of the policy issues reviewed in this issue are specific to intellectual disabilities, there are others that transcend disability-specific concerns. Our review is organized around six emerging demographic and socio-cultural trends that may directly and profoundly impact the intellectual disability field: aging, changing labor markets, immigration, families, federalism, and culture. Each of these trends is discussed in terms of their relevance and potential impact on disability policy. © 2007 Wiley-Liss, Inc. MRDD Research Reviews 2007;13:188-194. (Source: Mental Retardation and Developmental Disabilities Research Reviews) Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=663273 Mon, 11 Jun 2007 04:00:00 +0100 663273 http://www.medworm.com/index.php?rid=663272&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20151 This article reviews the literature regarding the complexity of the direct support workforce crisis, the effects of this crisis on various stakeholder groups, promising practices designed to address the challenges, and the related practice and policy implications. © 2007 Wiley-Liss, Inc. MRDD Research Reviews 2007;13:178-187. (Source: Mental Retardation and Developmental Disabilities Research Reviews) Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=663272 Mon, 11 Jun 2007 04:00:00 +0100 663272 http://www.medworm.com/index.php?rid=663271&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20150 Public financial support for intellectual disability in the United States grew from 2.3 billion in 1955 to 82.6 billion in 2004, and the federal government emerged during this period as the principal provider of such support. Notwithstanding this unprecedented growth in financial support, many inequities persist today in the distribution of financial resources and services across states, communities, families and to individual disabled consumers. Moreover, tens of thousands of persons with intellectual disabilities continue to live in institutions and nursing homes, waiting lists and aging caregivers are growing rapidly, and family support and supported employment programs receive limited funding. Research and training support has declined significantly in comparison to the growing financi... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=663271 Mon, 11 Jun 2007 04:00:00 +0100 663271 http://www.medworm.com/index.php?rid=663270&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20149 This article extracts principles from two Surgeon General reports, Closing the Gap: A National Blueprint to Improve the Health of Persons with Mental Retardation (2002) and Call to Action to Improve the Health and Wellness of Persons with Disabilities (2005), and combines them with the Objectives from Chapter 6 of Healthy People 2010 to create a policy framework. This framework is used to review literature from the past decade on access to health care and health promotion for persons with intellectual and developmental disabilities (IDD). Review of the literature indicates an emerging evidence base for health promotion programs for persons with IDD. Research in health care and health promotion access requires improvements in surveillance and measurement of quality of life, as well as incre... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=663270 Mon, 11 Jun 2007 04:00:00 +0100 663270 http://www.medworm.com/index.php?rid=663269&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20148 This article reviews the current and changing status of residential supports for persons with intellectual and developmental disabilities (ID/DD). It examines four major trends in those supports: (1) Decreasing use of larger institutions and increasing use of community housing; (2) Decreasing size among community settings; (3) Increasing numbers of people living in homes that they themselves own or rent; and (4) Decreasing out-of-home placements of children and youth. Within each trend the article provides a statistical description of the trend, its foundation in public policy, reviews the evidence of the trend's benefit to people with ID/DD, and identifies future challenges in sustaining the trend. © 2007 Wiley-Liss, Inc. MRDD Research Reviews 2007;13:151-159. (Source: Mental Retardation... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=663269 Mon, 11 Jun 2007 04:00:00 +0100 663269 http://www.medworm.com/index.php?rid=663268&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20147 In a review of current research and the No Child Left Behind (NCLB) legislation, this paper focuses on two specific issues: (a) how students with developmental disabilities show adequate yearly progress, including a description of the assessments in which this population may participate, and (b) the policy issues surrounding NCLB including technical requirements of alternate assessments, alignment of content standards, assessments, and instruction, the requirement of all teachers to be highly qualified, and the relationship between NCLB and the Individuals with Disabilities Education Improvement Act (IDEA, 2004). Areas for future research are identified through a review of relevant literature. © 2007 Wiley-Liss, Inc. MRDD Research Reviews 2007;13:143-150. (Source: Mental Retardation and D... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=663268 Mon, 11 Jun 2007 04:00:00 +0100 663268 http://www.medworm.com/index.php?rid=663267&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20138 This review examines later life family support for adults with developmental disabilities from a life course perspective that takes into account social trends and changes in service patterns and in attitudes of families. Key issues addressed include: (1) trends affecting family caregiving, (2) health and social outcomes of life-long caregiving, (3) support needs of families, (4) family support policies and practices, and (5) recommendations for a research and policy agenda. Research examining outcomes of life-long caregiving has shown that most families adapt well to having a family member with disabilities. However, some families are at risk for poorer physical and mental health outcomes. These include cultural minorities and families of adults with behavioral challenges. Caregiving does ... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=663267 Mon, 11 Jun 2007 04:00:00 +0100 663267 http://www.medworm.com/index.php?rid=663266&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20143 This paper explores issues and implications for diagnosis and treatment, stemming from the growing number of children identified with autism spectrum disorders (ASDs). Recent developments and innovations in special education and Medicaid programs are emphasized. Eligibility determination policies, innovations in diagnostic practices, the cost and financing of assessment, variability among programs in diagnostic criteria, and racial/ethnic disparities in the timing of diagnosis all influence the capacity of service systems to provide diagnoses in a timely, coordinated, accurate, economical, and equitable manner. There are several barriers to the more widespread provision of intensive intervention for children with ASDs, including lack of strong evidence of effectiveness in scaled-up public ... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=663266 Mon, 11 Jun 2007 04:00:00 +0100 663266 http://www.medworm.com/index.php?rid=663265&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20146 This article examines the ethical and social implications of the Human Genome Project for individuals with intellectual disabilities and their families. It details the critique of prenatal testing articulated by many disability rights activists as well as scholarly and professional responses to that critique. A review of the pertinent research literature includes perspectives of genetic professionals, ethicists, disability studies scholars, parents of children with disabilities, and disabled individuals themselves. Finally, the article explores how future research endeavors, policies, and practices may more effectively integrate and respect the positions of these various stakeholders. © 2007 Wiley-Liss, Inc. MRDD Research Reviews 2007;13:121-128. (Source: Mental Retardation and Developmen... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=663265 Mon, 11 Jun 2007 04:00:00 +0100 663265 http://www.medworm.com/index.php?rid=663264&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20145 The article reviews the federal statutes and relevant decisions of the U.S. Supreme Court that constitute the core concepts of disability policy and their application to persons with disabilities (especially developmental disabilities) and their families. © 2007 Wiley-Liss, Inc. MRDD Research Reviews 2007;13:114-120. (Source: Mental Retardation and Developmental Disabilities Research Reviews) Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=663264 Mon, 11 Jun 2007 04:00:00 +0100 663264 http://www.medworm.com/index.php?rid=663263&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20144 Epidemiological studies have consistently reported a significant association between poverty and the prevalence of intellectual disabilities. The available evidence suggests that this association reflects two distinct processes. First, poverty causes intellectual disabilities, an effect mediated through the association between poverty and exposure to a range of environmental and psychosocial hazards. Second, families supporting a child with intellectual disabilities and adults with intellectual disabilities are at increased risk of experiencing poverty due to the financial and social impact of caring and the exclusion of people with intellectual disabilities from the workforce. It is likely that the association between poverty and intellectual disabilities accounts in part for the health a... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=663263 Fri, 01 Jun 2007 04:00:00 +0100 663263 http://www.medworm.com/index.php?rid=442672&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20153 No abstract. (Source: Mental Retardation and Developmental Disabilities Research Reviews) Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=442672 Thu, 01 Mar 2007 05:00:00 +0100 442672 http://www.medworm.com/index.php?rid=442683&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20135 Genetic factors are important contributors to language and learning disorders, and discovery of the underlying genes can help delineate the basic neurological pathways that are involved. This information, in turn, can help define disorders and their perceptual and processing deficits. Initial molecular genetic studies of dyslexia, for example, appear to converge on defects in neuronal and axonal migration. Further study of individuals with abnormalities of these genes may lead to the recognition of characteristic cognitive deficits attributable to the neurological dysfunction. Such abnormalities may affect other disorders as well, and studies of co-morbidity of dyslexia with attention deficit disorder and speech sound disorder are helping to define the scope of these genes and show the eti... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=442683 Mon, 26 Feb 2007 05:00:00 +0100 442683 http://www.medworm.com/index.php?rid=442682&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20141 Past autism research has often been dedicated to tracing the causes of the disorder to a localized neurological abnormality, a single functional network, or a single cognitive-behavioral domain. In this review, I argue that autism is a "distributed disorder" on various levels of study (genetic, neuroanatomical, neurofunctional, behavioral). "Localizing" models are therefore not promising. The large array of potential genetic risk factors suggests that multiple (or all) emerging functional brain networks are affected during early development. This is supported by widespread growth abnormalities throughout the brain. Interactions during development between affected functional networks and atypical experiential effects (associated with atypical behavior) in children with autism further compli... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=442682 Mon, 26 Feb 2007 05:00:00 +0100 442682 http://www.medworm.com/index.php?rid=442681&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20137 This article assesses the state of the literature on word-attack skills and phonological awareness (PA) in individuals with mental retardation, in light of progress towards the development of effective teaching procedures. The literature contains promising findings. Studies have shown PA to be correlated with word-attack skills in individuals with mental retardation, as has been shown conclusively in typically developing children. This suggests that instruction in PA would facilitate the acquisition of word-attack skills in individuals with mental retardation, as it does with typically developing children. As of yet, however, very few experimental studies designed to demonstrate effective teaching procedures for PA and word-attack skills have been published. This research field might evolv... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=442681 Mon, 26 Feb 2007 05:00:00 +0100 442681 http://www.medworm.com/index.php?rid=442680&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20139 Research over the past 50 years has yielded several promising approaches and many specific intervention techniques designed to enhance the communication and language development of young children with intellectual and developmental delays and disabilities. Yet virtually no systematic research has been conducted on the effects of different treatment intensities. We review how intervention intensity has been defined in the literature and propose a set of terms borrowed from medicine that are intended to capture the dynamic aspects of this concept as an aid to further investigation. On the basis of this approach, we propose four types of knowledge that can be generated through the systematic study of treatment intensity and discuss appropriate methods for investigating the effects of differen... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=442680 Mon, 26 Feb 2007 05:00:00 +0100 442680 http://www.medworm.com/index.php?rid=442679&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20133 This article reviews some of the most significant aspects of this growth as it relates to children with developmental disabilities. Major issues within the field, the evidence base available to practitioners and researchers, and promising areas of future growth are identified. © 2007 Wiley-Liss, Inc. MRDD Research Reviews 2007;13:58-69. (Source: Mental Retardation and Developmental Disabilities Research Reviews) Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=442679 Mon, 26 Feb 2007 05:00:00 +0100 442679 http://www.medworm.com/index.php?rid=442678&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20132 This paper focuses on the communication and language phenotypes associated with three genetic disorders: Down syndrome, Williams syndrome, and fragile X syndrome. It is argued that there is empirical evidence that these disorders predispose children to specific profiles of strength and weakness in some areas of speech, language, and communication, and that intervention planning for children with each syndrome may take an approach informed by these profiles. Issues related to within-group variability, shared outcomes among syndromes, and the need for empirical validation for syndrome-specific recommendations are discussed. © 2007 Wiley-Liss, Inc. MRDD Research Reviews 2007; 13:47-57. (Source: Mental Retardation and Developmental Disabilities Research Reviews) Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=442678 Mon, 26 Feb 2007 05:00:00 +0100 442678 http://www.medworm.com/index.php?rid=442677&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20142 Fragile X syndrome (FXS) is the leading inherited cause of mental retardation. In this article, we review what is known about the language and related problems of individuals with FXS. In doing so, we focus on the syndrome-specific features of the language phenotype and on the organismic (i.e., genetic and individual neurocognitive and behavioral) and environmental factors associated with within-syndrome variation in the phenotype. We also briefly review those aspects of the behavioral phenotype of FXS that are relevant for understanding syndrome-specific features of, and within-syndrome variability in, language. The review includes summaries of research on the prelinguistic foundations for language development and on each of the major components of language (i.e., vocabulary, morphosyntax... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=442677 Mon, 26 Feb 2007 05:00:00 +0100 442677 http://www.medworm.com/index.php?rid=442676&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20136 This article describes research findings in the language and communication development of individuals with Down syndrome, first briefly describing the physical and cognitive phenotype of Down syndrome, and two communication related domains - hearing and oral motor skills. Next, we describe language development in Down syndrome, focusing on communication behaviors in the prelinguistic period, then the development of language in children and adolescents, and finally language development in adults and the aging period. We describe language development in individuals with Down syndrome across four domains: phonology, semantics, syntax, and pragmatics. Wethen suggest strategies for intervention and directions for research relating to individuals with Down syndrome. © 2007 Wiley-Liss, Inc. MRDD... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=442676 Mon, 26 Feb 2007 05:00:00 +0100 442676 http://www.medworm.com/index.php?rid=442675&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20134 Autism is a neurodevelopmental disorder defined by impairments in social and communication development, accompanied by stereotyped patterns of behavior and interest. The focus of this paper is on the early development of communication in autism, and early intervention for impairments in communication associated with this disorder. An overview of components of communication is provided. Communication characteristics that are diagnostic of autism are summarized, with consideration of the overlap between social and communication impairment, particularly for children with autism functioning at the prelinguistic level. Early communication development and predictors of communication functioning in autism are examined, based on a review of prospective and retrospective studies. The focus of the d... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=442675 Mon, 26 Feb 2007 05:00:00 +0100 442675 http://www.medworm.com/index.php?rid=442674&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20140 Williams syndrome, a genetic disorder caused by a microdeletion of [sim]25 genes on chromosome 7q11.23, is associated with mild to moderate intellectual disability or learning difficulties. Most individuals with Williams syndrome evidence a cognitive profile including relative strengths in verbal short-term memory and language, and considerable weakness in visuospatial construction. The syndrome has often been argued to provide strong evidence for the independence of language from other aspects of cognition. We provide a brief history of early research on the language abilities of individuals with Williams syndrome and then review contemporary studies of language and cognition in Williams syndrome, beginning with a consideration of performance on standardized assessments. In the remainder ... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=442674 Mon, 26 Feb 2007 05:00:00 +0100 442674 http://www.medworm.com/index.php?rid=329033&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20126 No abstract. (Source: Mental Retardation and Developmental Disabilities Research Reviews) Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=329033 Wed, 20 Dec 2006 07:00:00 +0100 329033 http://www.medworm.com/index.php?rid=329032&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20125 Expanded newborn screening programs and subsequent detection of rare genetic disorders challenge parents and their medical providers to learn about the treatment and management of these disorders. Many people seek medical information on the Internet but may encounter requests for registration or fees, or find that resources are out of date, difficult to understand, or buried in advertisements. The U.S. National Library of Medicine (NLM), a component of the National Institutes of Health, provides web-based resources that address the challenges of newborn screening education. These resources include MedlinePlus®, Genetics Home ReferenceTM, ClinicalTrials.gov, and PubMed®. NLM websites are not commercial, do not require registration or fees, and provide varied levels of information for a co... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=329032 Wed, 20 Dec 2006 07:00:00 +0100 329032 http://www.medworm.com/index.php?rid=329031&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20131 Recent changes in genetics research have created new opportunities to improve the scope and quality of newborn screening services. Changes in newborn screening should be supported and directed by an organized program of research. The NICHD Research Initiative in Newborn Screening includes the development of systematic methods to identify additional conditions appropriate for newborn screening; development and testing innovative interventions and treatments to improve outcomes; education of the provider workforce; development and implementation of appropriate information and communication systems for parents and providers; and, sponsoring an ongoing program of research and research training. Future needs will include the development of a national translational research infrastructure, preve... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=329031 Wed, 20 Dec 2006 07:00:00 +0100 329031 http://www.medworm.com/index.php?rid=329030&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20122 The term "pilot study" has been used over the years to describe the evaluation of the many elements involved in deciding whether a proposed condition should be added to a newborn screening (NBS) panel, and until recently, was unilaterally used to describe the evaluation of the assay to be used before the condition was officially adopted by a state for its newborn screening panel. Since Guthrie's introduction of screening for PKU, each time a new condition was added to the panel, the screening assay itself was validated through a population-based trial, in which the test was performed with de-identified samples to avoid association between the test result and the infant. This is considered by the laboratory as the "pilot phase" of adding a new condition. To advance the science of NBS, espec... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=329030 Wed, 20 Dec 2006 07:00:00 +0100 329030 http://www.medworm.com/index.php?rid=329029&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20121 This article discusses some of the efforts initiated by the Maternal and Child Health Bureau of the Health Resources and Services Administration, particularly the establishment of regional genetic and newborn screening collaboratives to improve access to these services and expertise. MRDD Research Reviews 2006;12:288-292. Published 2006 Wiley-Liss, Inc. (Source: Mental Retardation and Developmental Disabilities Research Reviews) Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=329029 Wed, 20 Dec 2006 07:00:00 +0100 329029 http://www.medworm.com/index.php?rid=329028&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20129 Expansion of newborn screening (NBS) has been driven primarily by a combination of advances in technology and medical treatment, and the sustained advocacy efforts of consumers and voluntary health organizations. The longstanding leadership of the March of Dimes has been credited by many as a critical factor in the expansion and improvement of state NBS programs. From the historic vantage point of four decades of March of Dimes involvement with newborn screening, this report reviews the unique origin of the first newborn screening test, and identifies from this point of origin several of the elements which still define the evolution of advocacy for NBS today. It also documents activities at the federal level and in seven states that have lead to expanded screening for newborns. Advances in... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=329028 Wed, 20 Dec 2006 07:00:00 +0100 329028 http://www.medworm.com/index.php?rid=329027&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20119 This article begins with a review of benefit as considered historically by various expert panels and organizations. We then show how 78 conditions fared when experts recently rated them on benefit using a scoring system recommended by a task force of the American College of Medical Genetics. Finally, we analyze how benefit is reflected in the public comments submitted in response to the ACMG report. Results show that benefit has been and remains a core consideration for screening decisions. Historically the focus has been on improved physical health as a result of medical treatment; however, in only 4 of the 78 conditions rated does newborn screening prevent all negative consequences. In fact the majority of both core conditions (51.7%) and secondary targets (87.5%) recommended in the ACMG... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=329027 Wed, 20 Dec 2006 07:00:00 +0100 329027 http://www.medworm.com/index.php?rid=329026&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20123 Universal newborn screening programs for metabolic disorders are typically described as a triumph of medicine and public policy in the US over the last 50 years. Advances in science and technology, including the Human Genome Project, offer the opportunity to expand universal newborn screening programs to include many additional metabolic and genetic conditions. Although the benefits of such screening programs appear to outweigh their costs, some critics have claimed that historical examples of inadvertent harm ensuing from false-positive screening results and subsequent inappropriate medical treatment should make us wary of expanding universal newborn screening. In this essay, we report the results of a review of the published literature to assess whether the extension of screening from at... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=329026 Wed, 20 Dec 2006 07:00:00 +0100 329026 http://www.medworm.com/index.php?rid=329025&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20130 The expansion of newborn screening programs to include multiplex testing by tandem mass spectrometry requires understanding and close monitoring of performance metrics. This is not done consistently because of lack of defined targets, and interlaboratory comparison is almost nonexistent. Between July 2004 and April 2006 (N = 176,185 cases), the overall performance metrics of the Minnesota program, limited to MS/MS testing, were as follows: detection rate 1:1,816, positive predictive value 37% (54% in 2006 till date), and false positive rate 0.09%. The repeat rate and the proportion of cases with abnormal findings actually been reported are new metrics proposed here as an objective mean to express the overall noise in a program, where noise is defined as the total number of abnormal results... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=329025 Wed, 20 Dec 2006 07:00:00 +0100 329025 http://www.medworm.com/index.php?rid=329024&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20120 The aim of newborn screening is to identify presymptomatic healthy infants that will develop significant metabolic or endocrine derangements if left undiagnosed and untreated. The goal of ultimately reducing or eliminating irreversible sequelae is reached by maximizing test sensitivity of the primary newborn screening that measures specific analytes by a number of methodologies. Differentiation of true from false negatives is accomplished by the test specificity. This review discusses disorders for which, in general, there are available therapies and that are detected by routine and expanded newborn screening. Recommendations are presented for evaluation by a primary care physician, with confirmation by a metabolic or endocrinology specialist. Disorders are organized in tabular format by c... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=329024 Wed, 20 Dec 2006 07:00:00 +0100 329024 http://www.medworm.com/index.php?rid=329023&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20124 Newborn screening has existed as a state-based public health service since the early 1960s. Every state and most territorial jurisdictions have comprehensive newborn screening programs in place, but in the United States a national newborn screening policy does not exist. This results in different administrative infrastructures, screening requirements, laboratory and follow-up services, medical management approaches, and related activities across the country. Federal initiatives and support have contributed to limited evaluations of various aspects of individual newborn screening programs at the national level, but funding is an issue. The national evaluation strategies have taken various forms, all with the intent of improving the screening system through review of actions taken and sugges... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=329023 Wed, 20 Dec 2006 07:00:00 +0100 329023 http://www.medworm.com/index.php?rid=329022&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20127 Newborn screening is considered a highly successful public health program that has resulted in the reduction of mortality, mental retardation, and other serious disabilities in thousands of children since the introduction of screening for phenylketonuria (PKU) in the 1960s. Programs are based in state public health departments such that each state independently reaches decisions as to which conditions should be mandated for inclusion in programs, leading to considerable variability among the states as to what is being screened. New technologies and knowledge of the genetics of many conditions have greatly expanded the number of conditions with potential for inclusion in newborn screening. © 2006 Wiley-Liss, Inc. MRDD Research Reviews 2006;12:230-235. (Source: Mental Retardation and Develo... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=329022 Wed, 20 Dec 2006 07:00:00 +0100 329022 http://www.medworm.com/index.php?rid=329021&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20128 No abstract. (Source: Mental Retardation and Developmental Disabilities Research Reviews) Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=329021 Fri, 01 Dec 2006 07:00:00 +0100 329021 http://www.medworm.com/index.php?rid=247769&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20112 Cognitive impairment has long been associated with the natural history of HIV among vertically infected children. In children, HIV may have a direct or indirect impact on the developing brain, may lead to global or highly specific consequences, and may be responsible for minor cognitive consequences or, conversely, long-term and severe disability. This differential impact is related to multiple factors that influence the individual expression of the virus in any given child. This review provides an overview of the relevant literature on neurocognitive outcomes for infants, children, and youth vertically infected with HIV, with attention to those factors impacting neurocognitive outcome within a developmental framework. Research findings in both the era preceding and following the introduct... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=247769 Wed, 25 Oct 2006 05:00:02 +0100 247769 http://www.medworm.com/index.php?rid=247768&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20111 HIV-1 encephalopathy among perinatally infected children in the United States was initially defined by a classic triad of findings that included: (1) developmental delay, (2) secondary or acquired microcephaly, and (3) pyramidal tract neuromotor deficits. The most severe form of this disorder typically occurred among young children who developed rapidly progressive disease in concert with profound immunosuppression, and Pneumocystis jiroveci pneumonitis (PCP). The neuropathogenesis of this disorder appears to involve a cascade of viral products, various cytokines and chemokines, and neurotransmitters which promote ongoing inflammation, excitation, and overstimualtion of the N-methyl-D-aspartate type receptor (NMDAR) system. These subsequently lead to neuronal injury and death secondary to ... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=247768 Wed, 25 Oct 2006 05:00:02 +0100 247768 http://www.medworm.com/index.php?rid=247767&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20116 Given the rise in chronic kidney disease (CKD) in both children and adults, CKD has recently been targeted as a public health priority. Childhood onset kidney disease is generally a noncurable and progressive condition that leads to kidney failure by early adulthood. Fortunately, improved identification of kidney problems allows for early intervention, which is thought to slow progression toward end-stage renal disease. In addition, medical interventions for pediatric end-stage renal disease have also improved, allowing children to take advantage of lifesaving renal replacement treatments such as dialysis and kidney transplantation. In spite of improvements in identification and treatment, CKD causes both direct and indirect insults to a variety of organ systems. This paper reviews recentl... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=247767 Wed, 25 Oct 2006 05:00:02 +0100 247767 http://www.medworm.com/index.php?rid=247766&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20115 Sickle cell disease (SCD) is a blood disorder; however, the central nervous system (CNS) is one of the organs frequently affected by the disease. Brain disease can begin early in life and often leads to neurocognitive dysfunction. Approximately one-fourth to one-third of children with SCD have some form of CNS effects from the disease, which typically manifest as deficits in specific cognitive domains and academic difficulties. We discuss SCD as a neurodevelopmental disorder by reviewing the mechanisms of neurological morbidity in SCD, the timing of these mechanisms, the types of cognitive and behavioral morbidity that is typical, and the interaction of social-environmental context with disease processes. The impact of the disease on families shares many features similar to other neurodeve... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=247766 Wed, 25 Oct 2006 05:00:02 +0100 247766 http://www.medworm.com/index.php?rid=247765&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20118 The most devastating complication of sickle cell anemia is cerebral infarction, affecting [sim]30% of all individuals with sickle cell anemia. Despite being one of the most common causes of stroke in infants and children, the mechanism of cerebral infarction in this population has not been extensively studied and is poorly understood. Multiple, synergistic factors are important in the pathogenesis of stroke including the hemodynamic effects of cerebral arterial occlusive disease, viscosity, chronic and acute anemia and acute medical events. This review focuses on the relationship between these factors in order to provide a foundation for further study of the etiology of strokes in this high-risk population. MRDD Research Reviews 2006;12:192-199. © 2006 Wiley-Liss, Inc. (Source: Mental Ret... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=247765 Wed, 25 Oct 2006 05:00:02 +0100 247765 http://www.medworm.com/index.php?rid=247764&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20110 We review research on the neuropsychological effects that central nervous system (CNS) cancer treatments have on the cognitive abilities of children and adolescents. The authors focus on the two most common malignancies of childhood: leukemias and brain tumors. The literature review is structured so as to separate out earlier studies, generally those published prior to 1995, as opposed to manuscripts that have been published within the past decade. This is an important distinction for both leukemia and brain tumors. Earlier studies were ground breaking in that they began to map out what could be expected in terms of intelligence and academic problems in survivors of pediatric malignancies. Survivorship in this population has and continues to markedly increase and this is largely due to cha... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=247764 Wed, 25 Oct 2006 05:00:02 +0100 247764 http://www.medworm.com/index.php?rid=247763&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20113 Most children diagnosed today with acute lymphoblastic leukemia (ALL) will be cured. However, treatment entails risk of neurotoxicity, causing deficits in neurocognitive function that can persist in the years after treatment is completed. Many of the components of leukemia therapy can contribute to adverse neurologic sequelae, including craniospinal irradiation, nucleoside analogs, corticosteroids, and antifolates. In this review, we describe the characteristic radiographic findings and neurocognitivie deficits seen among survivors of childhood ALL. We summarize what is known about the pathophysiology of delayed treatment-related neurotoxicity, with a focus on the toxicity resulting from pharmacologic disruption of folate physiology within the central nervous system. Finally, we suggest te... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=247763 Wed, 25 Oct 2006 05:00:02 +0100 247763 http://www.medworm.com/index.php?rid=247762&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20114 Successful treatment of many childhood diseases once considered terminal has resulted in the emergence of long-term effects of the disease or consequences of treatment that were previously unrecognized. Many of these long-term effects involve the central nervous system (CNS) and are developmental in the way that they emerge over time. Because we are now able to observe the natural history of childhood diseases such as sickle cell anemia or HIV, or the consequences of treatment of disease such as leukemia, brain tumors, or kidney disease, we are also able to study a number of biological mechanisms that result in long-term neurocognitive impairment. While some of the neurodevelopmental outcomes can be directly linked to structural damage of the CNS, other systems (e.g., hematologic, immunolo... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=247762 Wed, 25 Oct 2006 05:00:02 +0100 247762 http://www.medworm.com/index.php?rid=213143&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20108 Breakdown of oligodendrocyte-neuron interactions in white matter (WM), such as the loss of myelin, results in axonal dysfunction and hence a disruption of information processing between brain regions. The major feature of leukodystrophies is the lack of proper myelin formation during early development or the onset of myelin loss late in life. These early childhood WM diseases are described as hypomyelination or dysmyelination arising from a primary block in normal myelin synthesis because of a genetic mutation expressed in oligodendrocytes, or failure in myelination secondary to neuronal or astroglial dysfunctions (van der Knaap Dev. Med. Child Neurol. 43:705-712). Here, we describe the pathophysiological parameters of Canavan disease (CD), caused by genetic mutations of the aspartoacylase... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=213143 Fri, 29 Sep 2006 17:30:02 +0100 213143 http://www.medworm.com/index.php?rid=213142&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20105 Multiple sclerosis (MS) is an autoimmune demyelinating disorder of the central nervous system (CNS) that is increasingly recognized as a disease that affects children. Similar to adult-onset MS, children present with visual and sensory complaints, as well as weakness, spasticity, and ataxia. A lumbar puncture can be helpful in diagnosing MS when CSF immunoglobulins and oligoclonal bands are present. White matter demyelinating lesions on MRI are required for the diagnosis; however, children typically have fewer lesions than adults. Many criteria have been proposed to diagnose MS that have been applied to children, mostly above 10 years of age. The recent revisions to the McDonald criteria allow for earlier diagnosis, such as after a clinically isolated event. However, children are more like... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=213142 Fri, 29 Sep 2006 17:30:02 +0100 213142 http://www.medworm.com/index.php?rid=213141&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20100 While the central nervous system (CNS) is generally thought of as an immunopriviledged site, immune-mediated CNS white matter damage can occur in both the perinatal period and in adults, and can result in severe and persistent neurological deficits. Periventricular leukomalacia (PVL) is an inflammatory white matter disease of premature infants that frequently results in cerebral palsy (CP). Clinical and experimental studies show that both hypoxic/ischemic and innate immune mechanisms contribute to the destruction of immature oligodendroglia and of axons in the deep cerebral white matter in PVL. No data are yet available as to whether there is any genetic predisposition to PVL or to its neurological sequelae. Multiple sclerosis (MS) is an inflammatory white matter disease that often begins ... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=213141 Fri, 29 Sep 2006 17:30:02 +0100 213141 http://www.medworm.com/index.php?rid=213140&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20107 Perinatal brain injury in survivors of premature birth has a unique and unexplained predilection for periventricular cerebral white matter. Periventricular white-matter injury (PWMI) is now the most common cause of brain injury in preterm infants and the leading cause of chronic neurological morbidity. The spectrum of chronic PWMI includes focal cystic necrotic lesions (periventricular leukomalacia; PVL) and diffuses myelination disturbances. Recent neuroimaging studies support that the incidence of PVL is declining, whereas focal or diffuse noncystic injury is emerging as the predominant lesion. Factors that predispose to PVL during prematurity include hypoxia, ischemia, and maternal-fetal infection. In a significant number of infants, PWMI appears to be initiated by perturbations in cere... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=213140 Fri, 29 Sep 2006 17:30:02 +0100 213140 http://www.medworm.com/index.php?rid=213139&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20104 Leukoencephalopathy with vanishing white matter (VWM) is an autosomal recessive brain disorder, most often with a childhood onset. Magnetic resonance imaging and spectroscopy indicate that, with time, increasing amounts of cerebral white matter vanish and are replaced by fluid. Autopsy confirms white matter rarefaction and cystic degeneration. The process of localization and identification of the first two genes related to VWM, EIF2B5 and EIF2B2, was facilitated by two founder effects in the Dutch population. EIF2B5 and EIF2B2 encode the [epsiv] and [beta] subunits of translation initiation factor eIF2B. Soon it was shown that mutations in all five eIF2B subunit genes can cause VWM. EIF2B is essential for the initiation of translation of RNA into protein and is involved in regulation of th... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=213139 Fri, 29 Sep 2006 17:30:02 +0100 213139 http://www.medworm.com/index.php?rid=213138&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20101 No abstract. (Source: Mental Retardation and Developmental Disabilities Research Reviews) Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=213138 Fri, 29 Sep 2006 17:30:02 +0100 213138 http://www.medworm.com/index.php?rid=213137&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20102 Inflammation during the perinatal period has become a recognized risk factor for developmental brain injuries over the past decade or more. To fully understand the relationship between inflammation and brain development, a comprehensive knowledge about the immune system within the brain is essential. Microglia are resident immune cells within the central nervous system and play a critical role in the development of an inflammatory response within the brain. Microglia are critically involved with both the innate and adaptive immune system, regulating inflammation and cell damage within the brain via activation of Toll-like receptors, production of cytokines, and a myriad of other intracellular and intercellular processes. In this article, microglial physiology is reviewed along with the rol... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=213137 Fri, 29 Sep 2006 17:30:02 +0100 213137 http://www.medworm.com/index.php?rid=213136&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20106 There is an increasing awareness that the astrocytes in the immature periventricular white matter are vulnerable to ischemia and respond to inflammation. Here we provide a synopsis of the articles that have evaluated the causes and consequences of developmental brain injuries to white matter astrocytes as well as the consequences of several genetic mutations that result in abnormal astrocyte development. Emerging data suggest that the astrocytes are not simply responding to the injury but are likely victims as well as culprits. Given the important roles that astrocytes play in maintaining ionic, neurotransmitter, and metabolic homeostasis in the brain, a more thorough understanding of the mechanisms that lead to their incapacitation, demise, or reactions as well as a better understanding o... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=213136 Fri, 29 Sep 2006 17:30:02 +0100 213136 http://www.medworm.com/index.php?rid=213135&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20103 In white matter disorders such as leukodystrophies (LD), periventricular leucomalacia (PVL), or multiple sclerosis (MS), the hypomyelination or the remyelination failure by oligodendrocyte progenitor cells involves errors in the sequence of events that normally occur during development when progenitors proliferate, migrate through the white matter, contact the axon, and differentiate into myelin-forming oligodendrocytes. Multiple mechanisms underlie the eventual progressive deterioration that typifies the natural history of developmental demyelination in LD and PVL and of adult-onset demyelination in MS. Over the past few years, pathophysiological studies have mostly focused on seeking abnormalities that impede oligodendroglial maturation at the level of migration, myelination, and surviva... Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=213135 Fri, 29 Sep 2006 17:30:02 +0100 213135 http://www.medworm.com/index.php?rid=213134&cid=s_33739_179_f&fid=33739&url=http%3A%2F%2Fdx.doi.org%2F10.1002%252Fmrdd.20109 No abstract. (Source: Mental Retardation and Developmental Disabilities Research Reviews) Mental Retardation and Developmental Disabilities Research Reviews journals http://www.medworm.com/rss/comments.php?id=213134 Thu, 01 Jun 2006 06:00:00 +0100 213134