Developmental Disabilities Research Reviews最新文献_第5页

Genetic testing for autism spectrum disorders† 自闭症谱系障碍的基因检测

Developmental Disabilities Research Reviews Pub Date : 2012-03-23 DOI: 10.1002/ddrr.131

Sarah C. Bauer, Michael E. Msall

{"title":"Genetic testing for autism spectrum disorders†","authors":"Sarah C. Bauer, Michael E. Msall","doi":"10.1002/ddrr.131","DOIUrl":"10.1002/ddrr.131","url":null,"abstract":"Children with autism spectrum disorders (ASD) have unique developmental and behavioral phenotypes, and they have specific challenges with communication, social skills, and repetitive behaviors. At this time, no single etiology for ASD has been identified. However, evidence from family studies and linkage analyses suggests that genetic factors play a pivotal role in the etiology of ASD. However, ASD appear to be influenced by complex genetic and environmental factors, and evidence suggests that this is not a single gene disorder. In particular, ASD has a complex behavioral phenotype, and this variation reflects complex genotypes under the influence of external factors. With these considerations in mind, it is important to recognize that genetic testing is a vital component of the diagnostic evaluation of children with ASD. For example, children with ASD who have definitive etiologies may be able to access more specific resources, they may be spared long, emotionally and financially exhausting diagnostic journeys, and associated medical conditions and comorbidities can be managed proactively. Most importantly, children with disabilities of unknown origin should have an ongoing evaluation of potential etiologies for their symptoms (Crocker, 1987). Our purpose is to describe current trends in genetic testing for ASD, potential genetic etiologies of ASD, known genetic disorders associated with ASD, and recommendations for genetic testing in ASD. We will also emphasize the importance of access to informed health professionals, especially in the contexts of stigma and community supports. © 2012 Wiley Periodicals, Inc. Dev Disabil Res Rev 2011; 17:3–8.","PeriodicalId":55176,"journal":{"name":"Developmental Disabilities Research Reviews","volume":"17 1","pages":"3-8"},"PeriodicalIF":0.0,"publicationDate":"2012-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ddrr.131","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30529182","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}

引用次数: 18

Dangerous and expensive screening and treatment for rare childhood diseases: The case of krabbe disease 罕见儿童疾病的危险和昂贵的筛查和治疗:克拉伯病的案例

Developmental Disabilities Research Reviews Pub Date : 2012-03-23 DOI: 10.1002/ddrr.133

John D. Lantos

引用次数: 22

Preterm birth: An overview of risk factors and obstetrical management 早产:风险因素和产科管理概述

Developmental Disabilities Research Reviews Pub Date : 2011-12-22 DOI: 10.1002/ddrr.124

Amanda Stewart, Ernest Graham

引用次数: 18

Pathogenesis, neuroimaging and management in children with cerebral palsy born preterm 早产儿脑瘫的发病机制、神经影像学和治疗

Developmental Disabilities Research Reviews Pub Date : 2011-12-22 DOI: 10.1002/ddrr.127

Alexander H. Hoon Jr., Andreia Vasconcellos Faria

{"title":"Pathogenesis, neuroimaging and management in children with cerebral palsy born preterm","authors":"Alexander H. Hoon Jr., Andreia Vasconcellos Faria","doi":"10.1002/ddrr.127","DOIUrl":"10.1002/ddrr.127","url":null,"abstract":"With advances in obstetric and perinatal management, the incidence of intraventricular hemorrhage in premature infants has declined, while periventricular leukomalacia remains a significant concern. It is now known that brain injury in children born preterm also involves neuronal-axonal disease in supratentorial and infratentorial structures. The developing brain is especially vulnerable to white matter (WM) injury from 23 to 34 weeks gestation when blood vessels serving the periventricular WM are immature. Oligodendrocyte progenitors, which are beginning to form myelin during this time, are susceptible to attack from oxygen free radicals, glutamate, and inflammatory cytokines. Advances in imaging techniques such as diffusion tensor imaging provide a more complete picture of the location and extent of injury. Effective management of children born preterm with cerebral palsy is predicated on an understanding of sequential links from etiological antecedents to brain neuropathology as revealed with neuroimaging techniques to clinical phenotypes, toward focused interventions with measurable outcomes. © 2011 Wiley Periodicals, Inc. Dev Disabil Res Rev 2010;16:302–312.","PeriodicalId":55176,"journal":{"name":"Developmental Disabilities Research Reviews","volume":"16 4","pages":"302-312"},"PeriodicalIF":0.0,"publicationDate":"2011-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ddrr.127","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33078486","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}

引用次数: 20

Advancing evidence in preterm neonatal medicine 早产儿医学进展证据

Developmental Disabilities Research Reviews Pub Date : 2011-12-22 DOI: 10.1002/ddrr.125

Pamela K. Donahue, Karen A. Robinson

引用次数: 1

Palliative care for extremely premature infants and their families 对极早产儿及其家庭的姑息治疗

Developmental Disabilities Research Reviews Pub Date : 2011-12-22 DOI: 10.1002/ddrr.123

Renee D. Boss

引用次数: 8

Kindergarten readiness after prematurity: Integrating health, development, and behavioral functioning to optimize educational outcomes of vulnerable children 早产儿后的幼儿园准备:整合健康、发展和行为功能以优化弱势儿童的教育成果

Developmental Disabilities Research Reviews Pub Date : 2011-12-22 DOI: 10.1002/ddrr.126

Sarah C. Bauer, Michael E. Msall

{"title":"Kindergarten readiness after prematurity: Integrating health, development, and behavioral functioning to optimize educational outcomes of vulnerable children","authors":"Sarah C. Bauer, Michael E. Msall","doi":"10.1002/ddrr.126","DOIUrl":"10.1002/ddrr.126","url":null,"abstract":"In the past 20 years, many advances (e.g., maternal steroids and surfactant) have changed the course of neonatal medicine. As a result, extremely preterm infants survive medical complications that were previously fatal. Once they are discharged from the neonatal intensive care unit, preterm infants may continue to experience a spectrum of medical and developmental challenges, and their families are faced with the potentially daunting task of nurturing a vulnerable child. Families may be referred to multiple systems of care, including primary care physicians, pediatric subspecialists, and early intervention services. The ultimate goal for preterm infants is to optimize their motor, communicative, social-emotional, and adaptive development as well as to promote their learning at home, at school, and in the community. As children transition to school, key indicators of their functional status include the amount of developmental, educational, habilitative, and behavioral supports they require to participate in learning activities with their peers. Success may be measured by whether preterm infants are ready for large-group learning with peers and the extent of supports required to make this important transition. The purpose of this review is to describe what is known about certain indicators of school readiness in preterm infants, including neurodevelopmental impairments, social-emotional skills, and social factors. We conclude with guidelines for using this transition as an important indicator of developmental trajectories that may help us to better understand risk and resilience in this vulnerable population of children. © 2011 Wiley Periodicals, Inc. Dev Disabil Res Rev 2010;16:313–322.","PeriodicalId":55176,"journal":{"name":"Developmental Disabilities Research Reviews","volume":"16 4","pages":"313-322"},"PeriodicalIF":0.0,"publicationDate":"2011-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ddrr.126","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33078485","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}

引用次数: 7

Preterm birth: Transition to adulthood 早产:向成年的过渡

Developmental Disabilities Research Reviews Pub Date : 2011-12-22 DOI: 10.1002/ddrr.128

Marilee C. Allen, Elizabeth Cristofalo, Christina Kim

{"title":"Preterm birth: Transition to adulthood","authors":"Marilee C. Allen, Elizabeth Cristofalo, Christina Kim","doi":"10.1002/ddrr.128","DOIUrl":"10.1002/ddrr.128","url":null,"abstract":"Preterm birth is associated with greater difficulty with transitions from childhood to adolescence to adulthood. Adolescents and young adults born preterm have higher rates of cerebral palsy, intellectual disability, cognitive impairment, learning disability, executive dysfunction, attention deficit disorder, and social-emotional difficulties than their peers born fullterm. Compared to individuals born fullterm, more preterm survivors have major neurodevelopmental or psychiatric disability and need financial supports and societal resources. Neuroimaging studies of adolescents and adults born preterm report higher rates of brain injury, differences in regional brain structure, and different brain circuits than in those born fullterm. Making the transition to adulthood is more difficult for young adults who were born preterm than their peers born fullterm, in that fewer complete high school and higher education, find and keep meaningful employment, and live independently from their parents. As a group, they do not tend to be risk-takers, and they have lower rates of alcohol abuse, use of illicit drugs, and criminal offenses than do their peers. Despite their many challenges, the majority of adults born preterm function well, form personal relationships, integrate well into their community, and are as satisfied with their quality of life as are their peers. Concerns regarding current preterm infants, with more extremely preterm survivors, overwhelming our medical, educational, and societal resources should serve as an impetus for research on prevention of preterm births and brain injury, as well as how to support and promote their ongoing neuromaturation and recovery from injury. © 2011 Wiley Periodicals, Inc. Dev Disabil Res Rev 2010;16:323–335.","PeriodicalId":55176,"journal":{"name":"Developmental Disabilities Research Reviews","volume":"16 4","pages":"323-335"},"PeriodicalIF":0.0,"publicationDate":"2011-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ddrr.128","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33078487","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}

引用次数: 24

Introduction: Preterm birth 前言:早产

Developmental Disabilities Research Reviews Pub Date : 2011-12-22 DOI: 10.1002/ddrr.129

Marilee C. Allen

引用次数: 0

Managing irritability and aggression in autism spectrum disorders in children and adolescents 管理儿童和青少年自闭症谱系障碍中的易怒和攻击行为

Developmental Disabilities Research Reviews Pub Date : 2010-10-27 DOI: 10.1002/ddrr.118

Adelaide S. Robb

引用次数: 51