Developmental Disabilities Research Reviews最新文献

{"title":"Epidemiologic and genetic aspects of spina bifida and other neural tube defects","authors":"Kit Sing Au,&nbsp;Allison Ashley-Koch,&nbsp;Hope Northrup","doi":"10.1002/ddrr.93","DOIUrl":"10.1002/ddrr.93","url":null,"abstract":"<p>The worldwide incidence of neural tube defects (NTDs) ranges from 1.0 to 10.0 per 1,000 births with almost equal frequencies between two major categories: anencephaly and spina bifida (SB). Epidemiological studies have provided valuable insight for (a) researchers to identify nongenetic and genetic factors contributing to etiology, (b) public health officials to design and implement policies to prevent NTD pregnancies, and (c) individuals to take precautions to reduce the chance of having an NTD-affected pregnancy. Despite extensive research, our knowledge of the genetic etiology of human NTDs is limited. Although more than 200 small animal models with NTDs exist, most of these models do not replicate the human disease phenotype. Over a hundred candidate genes have been examined for risk association to human SB. The candidate genes studied include those important in folic acid metabolism, glucose metabolism, retinoid metabolism, and apoptosis. Many genes that regulate transcription in early embryogenesis and maintain planar cell polarity have also been tested as candidates. Additionally, genes identified through mouse models of NTDs have been explored as candidates. We do not know how many genes in the human genome may confer risk for NTDs in human. Less than 20% of the studied candidate genes have been determined to confer even a minor effect on risk association. Many studies have provided conflicting conclusions due to limitations in study design that potentially affect the power of statistical analysis. Future directions such as genomewide association studies (GWAS) and whole exome or even whole genome sequencing are discussed as possible avenues to identify genes that affect risk for human NTDs. © 2010 Wiley-Liss, Inc. Dev Disabil Res Rev 2010;16:6–15.</p>","PeriodicalId":55176,"journal":{"name":"Developmental Disabilities Research Reviews","volume":"16 1","pages":"6-15"},"PeriodicalIF":0.0,"publicationDate":"2010-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ddrr.93","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28944599","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optimizing health care for children with spina bifida","authors":"Gregory S. Liptak,&nbsp;Ahmad El Samra","doi":"10.1002/ddrr.91","DOIUrl":"10.1002/ddrr.91","url":null,"abstract":"<p>The health care needs of children with spina bifida are complex. They need specialists, generalists, and an integrated system to deliver this complex care and to align and inform all the providers. Most research in spina bifida has been focused on narrow medical outcomes; it has been noncollaborative, based on small samples of convenience, with no comparison groups, and without consistent standards of measurement. Models of health, like the World Health Organization International Classification of Functioning, Disability, and Health Model can help to broaden the scope of future research. Using methods from other pediatric conditions like the patient registry (cystic fibrosis), gene bank (autism), and collaborative research (leukemia), researchers can improve the quality of future studies. Research questions related to the process of care and to specific nonsurgical conditions associated with spina bifida are reviewed in this article. © 2010 Wiley-Liss, Inc. Dev Disabil Res Rev 2010;16:66–75.</p>","PeriodicalId":55176,"journal":{"name":"Developmental Disabilities Research Reviews","volume":"16 1","pages":"66-75"},"PeriodicalIF":0.0,"publicationDate":"2010-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ddrr.91","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28944043","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neuropathology and structural changes in hydrocephalus†","authors":"Marc R. Del Bigio","doi":"10.1002/ddrr.94","DOIUrl":"10.1002/ddrr.94","url":null,"abstract":"<p>In the context of spina bifida, hydrocephalus is usually caused by crowding of the posterior fossa with obstruction to cerebrospinal fluid flow from the forth ventricle, and less often by malformation of the cerebral aqueduct. Enlargement of the cerebral ventricles causes gradual destruction of periventricular white matter axons. Motor, sensory, visual, and memory systems may be disturbed through involvement of the long projection axons, periventricular structures including the corpus callosum, and the fimbria-fornix pathway. Secondary changes occur in neuronal cell bodies and synapses, but there is minimal death of neurons. The clinical syndrome of hydrocephalic brain dysfunction is thus due to subcortical disconnection. Some of the brain dysfunction is reversible by shunting, probably through restoration of cerebral blood flow and normalization of the extracellular environment. However, destroyed axons cannot be restored. © 2010 Wiley-Liss, Inc. Dev Disabil Res Rev 2010;16:16–22.</p>","PeriodicalId":55176,"journal":{"name":"Developmental Disabilities Research Reviews","volume":"16 1","pages":"16-22"},"PeriodicalIF":0.0,"publicationDate":"2010-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ddrr.94","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28944600","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An extra X or Y chromosome: Contrasting the cognitive and motor phenotypes in childhood in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome","authors":"Judith L. Ross,&nbsp;Martha P.D. Zeger,&nbsp;Harvey Kushner,&nbsp;Andrew R. Zinn,&nbsp;David P. Roeltgen","doi":"10.1002/ddrr.85","DOIUrl":"10.1002/ddrr.85","url":null,"abstract":"<div>\u0000 \u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective:</h3>\u0000 \u0000 <p>The goal of this study was to contrast the cognitive phenotypes in boys with 47,XYY (XYY) karyotype and boys with 47,XXY karyotype [Klinefelter syndrome, (KS)], who share an extra copy of the X-Y pseudoautosomal region but differ in their dosage of strictly sex-linked genes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods:</h3>\u0000 \u0000 <p>Neuropsychological evaluation of general cognitive ability, language, memory, attention, visual-spatial abilities, visual-motor skills, and motor function.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results:</h3>\u0000 \u0000 <p>Study cohort: 21 boys with 47,XYY and 93 boys with 47,XXY (KS), age 4–17 years, and 36 age-matched control boys. Both the XYY and KS groups performed less well, on average, than the controls on tests of general cognitive ability, achievement, language, verbal memory, some aspects of attention, and executive function, and motor function. The boys with XYY on average had more severe and pervasive language impairment, at both simple and complex levels, and the boys with KS on average had greater motor impairment in gross motor function and coordination, especially in running speed and agility.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions:</h3>\u0000 \u0000 <p>The results from these large XYY and KS cohorts have important neurocognitive and educational implications. From the neurocognitive standpoint, the presenting findings afford an opportunity to gain insights into brain development in boys with XYY and those with KS. From the educational standpoint, it is critical that boys with XYY or KS receive appropriate educational interventions that target their specific learning challenges. These findings also provide important information for counseling clinicians and families about these disorders. © 2009 Wiley-Liss, Inc. Dev Disabil Res Rev 2009;15:309–317.</p>\u0000 </section>\u0000 </div>","PeriodicalId":55176,"journal":{"name":"Developmental Disabilities Research Reviews","volume":"15 4","pages":"309-317"},"PeriodicalIF":0.0,"publicationDate":"2009-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ddrr.85","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28597422","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gene, brain, and behavior relationships in fragile X syndrome: Evidence from neuroimaging studies","authors":"Amy A. Lightbody,&nbsp;Allan L. Reiss","doi":"10.1002/ddrr.77","DOIUrl":"10.1002/ddrr.77","url":null,"abstract":"<p>Fragile X syndrome (FraX) remains the most common inherited cause of intellectual disability and provides a valuable model for studying gene-brain-behavior relationships. Over the past 15 years, structural and functional magnetic resonance imaging studies have emerged with the goal of better understanding the neural pathways contributing to the cognitive and behavioral outcomes seen in individuals with FraX. Specifically, structural MRI studies have established and begun to refine the specific topography of neuroanatomical variation associated with FraX. In addition, functional neuroimaging studies have begun to elucidate the neural underpinnings of many of the unique characteristics of FraX including difficulties with eye gaze, executive functioning, and behavioral inhibition. This review highlights studies with a focus on the relevant gene-brain-behavior connections observed in FraX. The relationship of brain regions and activation patterns to FMRP are discussed as well as the clinical cognitive and behavioral correlates of these neuroimaging findings. © 2009 Wiley-Liss, Inc. Dev Disabil Res Rev 2009;15:343–352.</p>","PeriodicalId":55176,"journal":{"name":"Developmental Disabilities Research Reviews","volume":"15 4","pages":"343-352"},"PeriodicalIF":0.0,"publicationDate":"2009-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ddrr.77","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28597952","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Structural and functional neuroimaging in Klinefelter (47,XXY) syndrome: A review of the literature and preliminary results from a functional magnetic resonance imaging study of language","authors":"Kyle Steinman,&nbsp;Judith Ross,&nbsp;Song Lai,&nbsp;Allan Reiss,&nbsp;Fumiko Hoeft","doi":"10.1002/ddrr.84","DOIUrl":"10.1002/ddrr.84","url":null,"abstract":"<p>Klinefelter (47,XXY) syndrome (KS), the most common form of sex-chromosomal aneuploidy, is characterized by physical, endocrinologic, and reproductive abnormalities. Individuals with KS also exhibit a cognitive/behavioral phenotype characterized by language and language-based learning disabilities and executive and attentional dysfunction in the setting of normal general intelligence. The underlying neurobiologic mechanisms are just now beginning to be elucidated through structural and functional neuroimaging. Here, we review the literature of structural and functional neural findings in KS identified by neuroimaging and present preliminary results from a functional magnetic resonance imaging study examining brain activity during a verb generation task in KS. © 2009 Wiley-Liss, Inc. Dev Disabil Res Rev 2009;15:295–308.</p>","PeriodicalId":55176,"journal":{"name":"Developmental Disabilities Research Reviews","volume":"15 4","pages":"295-308"},"PeriodicalIF":0.0,"publicationDate":"2009-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ddrr.84","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28597421","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Treatments for fragile X syndrome: A closer look at the data","authors":"Scott S. Hall","doi":"10.1002/ddrr.78","DOIUrl":"10.1002/ddrr.78","url":null,"abstract":"<p>Research into the determinants and developmental course of fragile X syndrome (FXS) has made remarkable progress over the last 25 years. However, treatments to ameliorate the symptoms of FXS have been less forthcoming. While there is optimism in the field that the pace of intervention research is quickening, there has been a bias toward psychopharmacological approaches to treatment. A closer look at the data from those investigations reveals a paucity of evidence that medications can improve intellectual and adaptive functioning in FXS, or decrease associated behavioral and/or emotional issues. Work in other related disorders (e.g., autism) has shown that dramatic improvements in intellectual and adaptive functioning, as well as behavioral and emotional problems, can occur if intensive behavioral treatment is begun early in the child's life. It is hoped that future research efforts will evaluate these intensive early intervention strategies in children with FXS, perhaps in combination with pharmacological approaches. © 2009 Wiley-Liss, Inc. Dev Disabil Res Rev 2009;15:353–360.</p>","PeriodicalId":55176,"journal":{"name":"Developmental Disabilities Research Reviews","volume":"15 4","pages":"353-360"},"PeriodicalIF":0.0,"publicationDate":"2009-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ddrr.78","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28597424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The cognitive phenotype in Klinefelter syndrome: A review of the literature including genetic and hormonal factors","authors":"Richard Boada,&nbsp;Jennifer Janusz,&nbsp;Christa Hutaff-Lee,&nbsp;Nicole Tartaglia","doi":"10.1002/ddrr.83","DOIUrl":"10.1002/ddrr.83","url":null,"abstract":"<p>Klinefelter syndrome (KS) or 47,XXY occurs in ∼1 in 650 males. Individuals with KS often present with physical characteristics including tall stature, hypogonadism, and fertility problems. In addition to medical findings, the presence of the extra X chromosome can lead to characteristic cognitive and language deficits of varying severity. While a small, but significant downward shift in mean overall IQ has been reported, the general cognitive abilities of patients with KS are not typically in the intellectual disability range. Most studies support that males with KS have an increased risk of language disorders and reading disabilities. Results of other studies investigating the relationship between verbal and nonverbal/spatial cognitive abilities have been mixed, with differing results based on the age and ascertainment method of the cohort studied. Executive function deficits have been identified in children and adults with KS, however, the research in this area is limited and further investigation of the neuropsychological profile is needed. In this article, we review the strengths and weaknesses of previous cognitive and neuropsychological studies in males with KS in childhood and adulthood, provide historical perspective of these studies, and review what is known about how hormonal and genetic factors influence cognitive features in 47,XXY/KS. © 2009 Wiley-Liss, Inc. Dev Disabil Res Rev 2009;15:284–294.</p>","PeriodicalId":55176,"journal":{"name":"Developmental Disabilities Research Reviews","volume":"15 4","pages":"284-294"},"PeriodicalIF":0.0,"publicationDate":"2009-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ddrr.83","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28597420","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"X-linked intellectual disability: Unique vulnerability of the male genome†","authors":"Roger E. Stevenson,&nbsp;Charles E. Schwartz","doi":"10.1002/ddrr.81","DOIUrl":"10.1002/ddrr.81","url":null,"abstract":"<p>X-linked intellectual disability (XLID) accounts for ∼16% of males with intellectual disability (ID). This is, in part, related to the fact that males have a single X chromosome. Progress in the clinical and molecular characterization of XLID has outpaced progress in the delineation of ID due to genes on the other 22 chromosomes. Almost half of the estimated 200 XLID genes have been identified and another 20% have been regionally mapped. These advances have had immediate benefits for families, allowing for carrier testing, genetic counseling, prenatal diagnosis, and preimplantation genetic diagnosis. Additionally, the combination of clinical delineation with gene identification and the development of gene panels for screening nonsyndromal XLID has been able to limit unproductive laboratory testing. Most importantly for the patients, some of the gene discoveries have pointed to potential strategies for treatment. © 2009 Wiley-Liss, Inc. Dev Disabil Res Rev 2009;15:361–368.</p>","PeriodicalId":55176,"journal":{"name":"Developmental Disabilities Research Reviews","volume":"15 4","pages":"361-368"},"PeriodicalIF":0.0,"publicationDate":"2009-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ddrr.81","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28597948","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Introduction: Cognitive profiles in sex chromosome disorders","authors":"Judith Ross,&nbsp;Fumiko Hoeft","doi":"10.1002/ddrr.82","DOIUrl":"10.1002/ddrr.82","url":null,"abstract":"","PeriodicalId":55176,"journal":{"name":"Developmental Disabilities Research Reviews","volume":"15 4","pages":"269"},"PeriodicalIF":0.0,"publicationDate":"2009-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ddrr.82","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28597949","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}