Developmental Disabilities Research Reviews最新文献

The management of orthopedic problems in spina bifida has seen a dramatic change over the past 10 years. The negative effects of spasticity, poor balance, and the tethered cord syndrome on ambulatory function are better appreciated. There is less emphasis on the hip radiograph and more emphasis on the function of the knee and the prevention of knee pain. The importance of the hip abductor muscle and its influence on gait and knee function has been realized. Important developments in the treatment of spinal deformity include the use of pedicle screws which allow better correction. The role of anterior-only spinal surgery has been defined, which allows motion at the lumbo-sacral junction and has a lower postoperative infection rate than posterior surgery. Functional outcome assessments provide better feedback for surgeons and families in regards to which patients may benefit most from surgery. Overall, the past 10 years has seen the increased use of functional outcome measures such as Motion Analysis, oxygen consumption, and patient-based outcome assessments rather than traditional radiographic measures (e.g., hip dislocation or subluxation). This progress has resulted in a better understanding of spina bifida and, more importantly, improved outcomes for our patients. Additional research is likely to further enhance outcomes by establishing additional evidence-based interventions. © 2010 Wiley-Liss, Inc. Dev Disabil Res Rev 2010;16:96–103.

Spina bifida myelomeningocele (SBM) is a specific type of neural tube defect whereby the open neural tube at the level of the spinal cord alters brain development during early stages of gestation. Some structural anomalies are virtually unique to individuals with SBM, including a complex pattern of cerebellar dysplasia known as the Chiari II malformation. Other structural anomalies are not necessarily unique to SBM, including altered development of the corpus callosum and posterior fossa. Within SBM, tremendous heterogeneity is reflected in the degree to which brain structures are atypical in qualitative appearance and quantitative measures of morphometry. Hallmark structural features of SBM include overall reductions in posterior fossa and cerebellum size and volume. Studies of the corpus callosum have shown complex patterns of agenesis or hypoplasia along its rostral-caudal axis, with rostrum and splenium regions particularly susceptible to agenesis. Studies of cortical regions have demonstrated complex patterns of thickening, thinning, and gyrification. Diffusion tensor imaging studies have reported compromised integrity of some specific white matter pathways. Given equally complex ocular motor, motor, and cognitive phenotypes consisting of relative strengths and weaknesses that seem to align with altered structural development, studies of SBM provide new insights to our current understanding of brain structure–function associations. © 2010 Wiley-Liss, Inc. Dev Disabil Res Rev 2010;16:23–30.

The increasing survival of children and young people with congenital disabilities such as spina bifida (SB) provides a challenge to health care systems globally about how best to respond to the multitude of health, developmental, and psychosocial needs of those affected by this complex disorder across the lifespan, not just in childhood and adolescence. The goal of transition to adult health care is to maximize lifelong functioning through the provision of quality, developmentally appropriate health care that continues uninterrupted as the individual moves from adolescence to adulthood. The objective of this article is to outline the type of evidence we have around transition to adult health care in young people with SB, and to identify what additional research evidence would help inform the development of models of clinical care for young adults. © 2010 Wiley-Liss, Inc. Dev Disabil Res Rev 2010;16:60–65.

A developmentally oriented bio-neuropsychosocial model is introduced to explain the variation in family functioning and psychosocial adjustment in youth and young adults with spina bifida (SB). Research on the family functioning and psychosocial adjustment of individuals with SB is reviewed. The findings of past research on families of youth with SB support a resilience–disruption view of family functioning. That is, the presence of a child with SB disrupts normative family functioning but many families adapt to such disruption and exhibit considerable resilience in the face of adversity. Parents of youth with SB, and particularly those from lower socio-economic status (SES) homes, are at-risk for psychosocial difficulties. Individuals with SB are at-risk for developing internalizing symptoms, attention problems, educational difficulties, social maladjustment, and delays in the development of independent functioning. Emerging adults are often delayed in achieving milestones related to this stage of development (e.g., vocational and educational achievements). Methodologically sound, longitudinal, and theory-driven studies of family and psychosocial functioning are needed, as are randomized family-based intervention trials, to promote adaptive functioning and better psychosocial outcomes in families of individuals with SB. © 2010 Wiley-Liss, Inc. Dev Disabil Res Rev 2010;16:40–46.

A cognitive phenotype is a product of both assets and deficits that specifies what individuals with spina bifida meningomyelocele (SBM) can and cannot do and why they can or cannot do it. In this article, we review the cognitive phenotype of SBM and describe the processing assets and deficits that cut within and across content domains, sensory modality, and material, including studies from our laboratory and other investigations. We discuss some implications of the SBM cognitive phenotype for assessment, rehabilitation, and research. © 2010 Wiley-Liss, Inc. Dev Disabil Res Rev 2010;16:31–39.

The neurosurgical goal when treating children with spina bifida (predominantly myelomeningocele) is to maintain stable neurological functioning throughout the patient's life time. Unfortunately, few long-term outcome studies are available to help direct the neurosurgical care of a child born with myelomeningocele and often treatment relies more heavily upon the experience of senior practitioners. This article reviews the current literature regarding neurosurgical treatment strategies, with recommendations concerning including prenatal diagnosis, in utero treatment and delivery modes, and postnatal management. Given the overall declining prevalence of open neural tube defects world-wide, research collaboration amongst practitioners through multicenter trial are essential to improving the lives of people born with this most complex congenital anomaly. © 2010 Wiley-Liss, Inc. Dev Disabil Res Rev 2010;16:82–87.

Quality of life (QOL) is an important concept for individuals with chronic health conditions. Measuring and supporting QOL in children, adolescents, and adults with spina bifida (SB) may be especially unique given the broad range of complex health and rehabilitative challenges they encounter. This article provides a research update on (a) conceptual and methodological considerations in measuring QOL and a related construct, health-related quality of life (HRQOL); (b) the state of the science in QOL and HRQOL for individuals with SB; and (c) gaps in the evidence and implications for future research. A synthesis of the literature was limited by the use of 17 different QOL and HRQOL instruments to measure these constructs and notable weaknesses in the most frequently used condition-specific HRQOL instrument. However, a tentative pattern of lower scores on the physical domain of HRQOL measures in individuals with SB in comparison to peers emerged, while discrepancies in emotional, social, and school domains varied by study. Recommendations for future research include using a lifespan approach to expand QOL studies to older adults with SB and focusing on intervention research to prevent or treat decreased HRQOL. © 2010 Wiley-Liss, Inc. Dev Disabil Res Rev 2010;16:47–59.

The urologist plays an important role in the multidisciplinary team of physicians who provide care for patients with spina bifida. We review common strategies for managing the urinary tract in these patients. The primary objective in all phases of life is protecting kidney function by minimizing bladder hostility and establishing a good capacity, low-pressure urinary reservoir. Ensuring adequate bladder and bowel continence is also paramount for enhancing self-esteem and independence. Medical therapy incorporating clean intermittent catheterization and antimuscarinic medication is the cornerstone of neurogenic bladder management and often the only intervention required to achieve the above goals. Others may require formal lower urinary tract reconstruction to prevent urinary tract deterioration. As will be shown, current management, while effective, is not supported by strong evidence-based protocols; and the impact of any intervention upon quality of life, while subjectively seen as positive, does not have objective validation. These limitations are recognized and currently the subject of urologic investigation. © 2010 Wiley-Liss, Inc. Dev Disabil Res Rev 2010;16:88–95.

Survival into adulthood for individuals with spina bifida has significantly improved over the last 40 years with the majority of patients now living as adults. Despite this growing population of adult patients who have increased medical needs compared to the general population, including spina bifida (SB)-specific care, age-related secondary disabilities, and general adult medical needs, there is little published information about the natural history of SB in adulthood. There are few published studies of medical conditions, interventions, or long-term complications in this population. This article will provide a review of the medical issues of adults with SB, highlighting areas that are different than pediatric care, and areas of needed research. © 2010 Wiley-Liss, Inc. Dev Disabil Res Rev 2010;16:76–81.