Developmental Disabilities Research Reviews最新文献

A delay in meeting developmental milestones may be secondary to perinatal events, involving complicated interactions between mother and fetus during delivery. Maternal factors including weight, diet, and morbidities can affect neonatal adaptation and later development. Prematurity, low birth weight, and previous intrauterine insults as well as complications during delivery of a previously normal fetus increase the risk for perinatal stress. In this article, the literature on perinatal and early postnatal factors that underlie risks for developmental delay and disabilities is reviewed. Studies that concern neuroprotective therapies and prediction of long-term neurologic outcome by clinical examination, neuroimaging techniques, and electroencephalographic studies are reviewed as well. © 2013 Wiley Periodicals, Inc. Dev Disabil Res Rev 2011;17:59–70.

Preterm birth is characterized by multiple interacting atypical constraints affecting different aspects of neuropsychological development. In the first years of life, perceptual, motor, and communicative-linguistic abilities, as well as attention, processing speed, and memory are affected by preterm birth resulting in cascading effects on later development. From school age to adolescence, a catch-up of simpler competencies (i.e., receptive lexicon) along with a more selective effect on more complex competencies (i.e., complex linguistic functions, math, motor, and executive functions) are observed, as well as a relevant incidence of behavioral outcomes. A wide heterogeneity in preterm children's neuropsychological profiles is described depending on the interaction among the degree of neonatal immaturity, medical complications, neurological damages/alterations, environmental and social factors. Severe neuromotor and sensory damages are not frequent, while low severity impairments are common among preterm children. It is argued that developmental pathways of preterm children are atypical, and not merely delayed, and are characterized by different developmental patterns and relationships among competencies. © 2013 Wiley Periodicals, Inc. Dev Disabil Res Rev 2011;17:102–113.

We are living in an extraordinary era of biological discovery involving molecular genetics and developmental neurosciences. Using these powerful tools, we have been able to understand some of the complex biological pathways underlying learning and cognition. Gender, epigenetics, and gene-environment interactions have all been identified as causative factors. These advances have occurred because of our recognition that new scientific information is needed to enhance current prevention and treatment strategies. However, these advances are occurring in times of economic restraint, marked by continual gaps in federal and state funding for basic, clinical, and translational science. The current issue of DDRR is focused on the theme “Bioethics and Intellectual Disability: Scientific Promise, Social Context and Policy.” The co-editors from the University of Chicago represent expertise in neurodevelopmental pediatrics, bioethics, and clinical genetics, and have been involved with developing community systems of care for vulnerable children and adults with intellectual disability.

This issue begins by addressing the current state of genetic testing and screening and brings to mind one of Allen Crocker's maxims for the care of individuals with disabilities: “A thoughtful consideration of etiology for the person's developmental disorder shall have been made or be made, recorded in defensible and available form, shared with the family and the medical providers, and updated as new technology suggests a potential value therefrom.” [Crocker,1987] Bauer and Msall review testing recommendations for Autism spectrum disorders, highlighting how scientific developments, such as chromosomal microarray and molecular probes, have enhanced our recognition of complex phenotypes (Fragile X, TS Complex, 15q^-, PTEN). [Manning et al.,2010] On a policy level, they conclude that the increased recognition of Autism spectrum disorders in early childhood requires improved access to genetic counseling and to quality educational interventions. In their article about the expanded newborn screening for lysosomal storage diseases, Waggoner and Tan echo this call for sustained investment in comprehensive interventions. Over the past 50 years, research advances in lysosomal storage disease have resulted in an array of new biomedical interventions, including enzyme replacement for Fabry, Pompe and Gaucher diseases and stem cell therapies for Krabbe disease, Metachromatic, and Adrenal Leukodystrophies [Beck,2007]. This scientific progress has made newborn screening for these diseases feasible. Moving forward, Waggoner and Tan cite important cautions and provide a framework for newborn screening that emphasizes preventing disability and supporting families, with both compassion and vigorous attention to science.

Moving from identification to treatment, we learn from a second maxim from Crocker: “The person, family members and/

Down syndrome is the most common cause of intellectual disability. In the United States, it is recommended that prenatal testing for Down syndrome be offered to all women. Because of this policy and consequent public perception, having Down syndrome has become a disadvantage in the prenatal period. However, in the postnatal period, there may be some advantage in having Down syndrome. To help parents make informed decisions about screening and testing, it is crucial to reconcile divergent prenatal and postnatal perspectives. Advancements in genetic technologies will also impact the informed consent process and need to be considered. © 2012 Wiley Periodicals, Inc. Dev Disabil Res Rev 2011; 17:27–31.

Newborn screening (NBS), since its implementation in the 1960s, has traditionally been successful in reducing mortality and disability in children with a range of different conditions. Lysosomal storage disorders (LSD) are a heterogeneous group of inherited metabolic diseases that result from lysosomal dysfunction. Based on available treatment and suitable screening methods, the LSDs that are considered for NBS generally include Fabry, Gaucher, Krabbe, MPSI, MPSII, MPSV, Metachromatic leukodystrophy, Niemann-Pick, and Pompe. Utilizing traditional and expanded criteria for consideration of NBS leads to a set of fundamental questions that need to be explored when considering the opportunities and challenges of adding LSDs to NBS panels. © 2012 Wiley Periodicals, Inc. Dev Disabil Res Rev 2011; 17:9–14.

Public Law 99–457 extended the landmark Public Law 94–142 legislation to include early intervention for infants and toddlers with or at-risk for development of developmental disabilities. Currently over 300,000 infants and toddlers and their families in the United States receive services through Part C of the Individuals with Disabilities Education legislation. The law fostered interagency collaborations and included the child's parent or caregiver as an integral part of the intervention team. This article reviews the 26 years of legislation associated with educating young children with disabilities and the resulting early intervention service delivery system. Analyses and review of studies of Part C services are offered to inform policies that enhance early identification, family engagement, and intervention delivery. © 2012 Wiley Periodicals, Inc. Dev Disabil Res Rev 2011; 17:36–43.

Faced with the limitations of currently available mainstream medical treatments and interventions, parents of children with neurodevelopmental disorders often seek information about unproven interventions. These interventions frequently have undetermined efficacy and uncertain safety profiles. In this article, we present a general background and case vignettes that highlight the use of hyperbaric oxygen chambers and stem cells in cerebral palsy, the leading cause of pediatric physical disability. We then review the current evidence about these interventions as exemplars of unproven therapies. Building on the background and cases, we explore and review two important questions related to unproven interventions: (1) How should clinicians respond to requests for innovative and alternative interventions? (2) What should clinicians keep in mind when such requests come from online sources? © 2012 Wiley Periodicals, Inc. Dev Disabil Res Rev 2011; 17:19–26.

Individuals with intellectual disabilities experience health disparities and disparities in accessing health care services compared to individuals within the general population. In order to eliminate these disparities the contributors to them must be understood. In this article, we aim to describe a recent reconceptualization of health and disability (Krahn, et al. [2006] Mental. Retard. Dev. Disabilities Res. Rev. 12:70–82) to further understand the health disparities between individuals with Down syndrome, the most common identified cause of intellectual disability in the United States, and the general population. We also detail known health disparities between individuals with Down syndrome of different races and discuss the possible reasons for these disparities, as well as potential actions to address them. © 2012 Wiley Periodicals, Inc. Dev Disabil Res Rev 2011; 17:32–35.

People with intellectual disability (ID) have a long history of discrimination and stigmatization, and a more recent history of pride and self-advocacy. The early history suggests that people with ID are a vulnerable population and deserve special research protections as do some other groups; the disability rights movement of the late 20th century aligns people with ID more closely with the principle of autonomy that has guided clinical and research ethics for the last 40 years. In examining the history of people with ID and the prevailing framework of human subjects research protections in the United States, we conclude that people with ID do not require special protection in human subjects research. The protections that have already been put in place for all individuals, if conscientiously and effectively implemented, achieve the right balance between safeguarding the interest of human research subjects and empowering individuals who choose to do so to participate in research. © 2012 Wiley Periodicals, Inc. Dev Disabil Res Rev 2011; 17:52–56.

This article explores social policy developments in the arena of intellectual and developmental disabilities. It begins by summarizing the challenges facing persons with intellectual disabilities and their caregivers in 1945. Families depended on a patchwork of over-crowded and under-funded large state institutions. Children with intellectual disabilities were marginalized from education and public services. Shame and stigma, along with the lack of community-based services, led many parents to institutionalize a child. The federal government provided almost no specific assistance for disabled individuals or to their families. Postwar America provided fertile ground for parents to act collectively through the emergence of the National Association of Retarded Children (NARC). Partly as a consequence of such organizing, the 1950s marked a surprising turning-point, in which the federal government expanded income support to disabled persons through measures such as Social Security's “Disabled Adult Child” program and, by the early 1970s, the advent of Supplemental Security Income (SSI). It also reviews the growth of Medicaid as the dominant payer of medical and social services at the boundaries between personal medical services, case management, education, and other social services. The article ends by summarizing current challenges in intellectual disability policy. It notes that the size, complexity, and expense of I/DD services poses inherent challenges, particularly to state and local governments in the current recession. Adjusting for inflation, 23 states actually reduced real spending on I/DD services between 2008 and 2009. Controlling for local conditions, politically conservative states enacted deeper cuts and spent a smaller fraction of state income on intellectual disability services than other states. © 2012 Wiley Periodicals, Inc. Dev Disabil Res Rev 2011; 17:44–51.