Mental Retardation And Developmental Disabilities Research Reviews[JOURNAL]
Sun
200 papers
Synaptogenesis and heritable aspects of executive attention.
Fossella JA, Sommer T, Fan J … +2 more , Pfaff D, Posner MI
Ment Retard Dev Disabil Res Rev · 2003 · PMID 12953297 · Publisher ↗
In humans, changes in brain structure and function can be measured non-invasively during postnatal development. In animals, advanced optical imaging measures can track the formation of synapses during learning and behavi...
In humans, changes in brain structure and function can be measured non-invasively during postnatal development. In animals, advanced optical imaging measures can track the formation of synapses during learning and behavior. With the recent progress in these technologies, it is appropriate to begin to assess how the physiological processes of synapse, circuit, and neural network formation relate to the process of cognitive development. Of particular interest is the development of executive function, which develops more gradually in humans. One approach that has shown promise is molecular genetics. The completion of the human genome project and the human genome diversity project make it straightforward to ask whether variation in a particular gene correlates with variation in behavior, brain structure, brain activity, or all of the above. Strategies that unify the wealth of biochemical knowledge pertaining to synapse formation with the functional measures of brain structure and activity may lead to new insights in developmental cognitive psychology.
Fiber tracking using magnetic resonance diffusion tensor imaging and its applications to human brain development.
Watts R, Liston C, Niogi S … +1 more , Uluğ AM
Ment Retard Dev Disabil Res Rev · 2003 · PMID 12953296 · Publisher ↗
Diffusion tensor imaging is unique in its ability to noninvasively visualize white matter fiber tracts in the human brain in vivo. Diffusion is the incoherent motion of water molecules on a microscopic scale. This motion...
Diffusion tensor imaging is unique in its ability to noninvasively visualize white matter fiber tracts in the human brain in vivo. Diffusion is the incoherent motion of water molecules on a microscopic scale. This motion is itself dependent on the micro-structural environment that restricts the movement of the water molecules. In white matter fibers there is a pronounced directional dependence on diffusion. With white matter fiber tracking or tractography, projections among brain regions can be detected in the three-dimensional diffusion tensor dataset according to the directionality of the fibers. Examples of developmental changes in diffusion, tracking of major fiber tracts, and examples of how diffusion tensor tractography and functional magnetic resonance imaging can be combined are provided. These techniques are complimentary and allow both the identification of the eloquent areas of the brain involved in specific functional tasks, and the connections between them. The noninvasive nature of magnetic resonance imaging will allow these techniques to be used in both longitudinal developmental and diagnostic studies. An overview of the technique and preliminary applications are presented, along with its current limitations.
Imaging the developing brain with fMRI.
Davidson MC, Thomas KM, Casey BJ
Ment Retard Dev Disabil Res Rev · 2003 · PMID 12953295 · Publisher ↗
Advancements in magnetic imaging techniques have revolutionized our ability to study the developing human brain in vivo. The ability to noninvasively image both anatomy and function in healthy volunteers, including young...
Advancements in magnetic imaging techniques have revolutionized our ability to study the developing human brain in vivo. The ability to noninvasively image both anatomy and function in healthy volunteers, including young children, has already enhanced our understanding of brain and behavior relations. The application of these techniques to developmental research offers the opportunity to further explore these relationships and allows us to ask questions about where, when and how cognitive abilities develop in relation to changes in underlying brain systems. It is also possible to explore the contributions of maturation versus learning in the development of these abilities through cross-sectional and longitudinal research involving training and intervention procedures. Current imaging methodologies, in conjunction with new and rapidly evolving techniques, hold the promise of even greater insights into developmental issues in the near future. These methodologies and their application to development and learning are discussed in the current paper.
MRI-based morphometric of typical and atypical brain development.
Kennedy DN, Haselgrove C, McInerney S
Ment Retard Dev Disabil Res Rev · 2003 · PMID 12953294 · Publisher ↗
The neuroinformatics landscape in which human brain morphometry occurs has advanced dramatically over the past few years. Rapid advancement in image acquisition methods, image analysis tools and interpretation of morphom...
The neuroinformatics landscape in which human brain morphometry occurs has advanced dramatically over the past few years. Rapid advancement in image acquisition methods, image analysis tools and interpretation of morphometric results make the study of in vivo anatomic analysis both challenging and rewarding. This has revolutionized our expectations for current and future diagnostic and investigative work with the developing brain. This paper will briefly cover the methods of morphometric analysis available for neuroanatomic analysis, and tour some sample results from a prototype retrospective database of neuroanatomic volumetric information. From these observations, issues regarding the anatomic variability of developmental maturation of neuroanatomic structures in both typically and atypically developing populations can be discussed.
Early life influences on life-long patterns of behavior and health.
McEwen BS
Ment Retard Dev Disabil Res Rev · 2003 · PMID 12953293 · Publisher ↗
The stability of a child's early life has profound effects on physical and mental health, and unstable parent-child relationships, as well as abuse, can lead to behavioral disorders and increased mortality and morbidity...
The stability of a child's early life has profound effects on physical and mental health, and unstable parent-child relationships, as well as abuse, can lead to behavioral disorders and increased mortality and morbidity from a wide variety of common diseases later in life. One common consequence, namely, depressive illness, is associated with chemical imbalances in the brain and hormonal dysregulation, constituting a form of allostatic load that alters interpretations of stimuli and influences, behavioral, and hormonal responses to potentially stressful situations. The brain not only encodes information and controls the behavioral responses but it is also changed structurally by those experiences. Structural changes in the hippocampus and amygdala, which are important brain structures for cognition and emotion, are representative of what may be occurring throughout the brain as a result of allostatic load resulting from the chronic stress of a disorder such as depression. Such structural changes include dendritic debranching and hypertrophy, cell proliferation, and synaptic remodeling; they are produced by the combined overactivity of stress hormones and endogenous neurotransmitters. These mediators are normally involved in adaptation, but can also promote damage when they are dysregulated and over-active. They are very likely to be strongly biased by early life experiences. The findings from animal models thus provide a basis for understanding potential mechanisms of environmental and developmental determinants of individual differences in human stress reactivity, as well as anxiety, depression, and a host of related systemic disorders. There is an increasing amount of translational research that is beginning to tie the basic research to clinical outcomes of individuals exposed to abusive or inconsistent care-giving in early life. A major goal of studies on this important topic is to define times in development and strategies for intervening to prevent or reverse the effects of adverse early life experiences. Although prevention is clearly the preferable route, some degree of reversal of psychopathology and pathophysiology caused by early life adversity appears to be an achievable goal.
Vocal learning in birds and humans.
Wilbrecht L, Nottebohm F
Ment Retard Dev Disabil Res Rev · 2003 · PMID 12953292 · Publisher ↗
Vocal learning is the modification of vocal output by reference to auditory information. It allows for the imitation and improvisation of sounds that otherwise would not occur. The emergence of this skill may have been a...
Vocal learning is the modification of vocal output by reference to auditory information. It allows for the imitation and improvisation of sounds that otherwise would not occur. The emergence of this skill may have been a primary step in the evolution of human language, but vocal learning is not unique to humans. It also occurs in songbirds, where its biology can be studied with greater ease. What follows is a review of some of the salient anatomical, developmental, and behavioral features of vocal learning, alongside parallels and differences between vocal learning in songbirds and humans.
Brain plasticity, learning, and developmental disabilities.
Casey BJ
Ment Retard Dev Disabil Res Rev · 2003 · PMID 12953291 · Publisher ↗
This is a time of significant gains in methodological development for examining the developing human brain. New efforts are underway to unify the understanding of the development of brain anatomy with physiological, cell...
This is a time of significant gains in methodological development for examining the developing human brain. New efforts are underway to unify the understanding of the development of brain anatomy with physiological, cellular and molecular processes that influence behavioral development. This special issue provides animal models of behavior and brain development, applications of noninvasive imaging and genetic methods to human brain development and behavior, and select reviews of how these models and methods have been applied to the examination of developmental disabilities. This issue reflects a sampling of current approaches to the study of brain plasticity, development and learning in typically and atypically developing humans and animals.
Certification in neurodevelopmental disabilities: the development of a new subspecialty and results of the initial examinations.
Palmer FB, Percy AK, Tivnan P … +3 more , Juul D, Tunnessen WW, Scheiber SC
Ment Retard Dev Disabil Res Rev · 2003 · PMID 12784231 · Publisher ↗
The American Board of Psychiatry and Neurology, in collaboration with the American Board of Pediatrics, administered the first Subspecialty Certification Examination in Neurodevelopmental Disabilities to 190 candidates o...
The American Board of Psychiatry and Neurology, in collaboration with the American Board of Pediatrics, administered the first Subspecialty Certification Examination in Neurodevelopmental Disabilities to 190 candidates on April 3, 2001, and the second to 80 candidates on April 9, 2002. This report describes the history of the certifying examination including the process of its development and the results of the first and second examination administrations. The purpose of the Certification Examination in Neurodevelopmental Disabilities is to assess knowledge of qualified candidates in the subspecialty. A committee comprised of child neurologists and pediatricians developed this examination. Of the 190 pediatricians (n = 169) and child neurologists (n = 21) who completed the examination in 2001, 157 (83%) passed the examination. The second group of examinees included 68 pediatricians and 12 child neurologists, and the pass rate was 70%. The 213 candidates certified to date have received ten-year time-limited certificates that may be renewed by recertification process beginning in 2010. After the "grandfathering period," candidates for the examination must complete ACGME-approved training programs in the subspecialty.
Nongenetic causes of hearing loss.
Roizen NJ
Ment Retard Dev Disabil Res Rev · 2003 · PMID 12784230 · Publisher ↗
Nongenetic as well as genetic etiologies must be explored in the child with identified hearing loss. Graduates of the neonatal intensive care unit are at increased risk for developing hearing loss due to hypoxia, hyperbi...
Nongenetic as well as genetic etiologies must be explored in the child with identified hearing loss. Graduates of the neonatal intensive care unit are at increased risk for developing hearing loss due to hypoxia, hyperbilirubinemia, very low birth weight, and ototoxic medications. Although meningitis has decreased in frequency, it is still a risk factor for hearing loss. Cytomegalovirus remains the most common congenital infection and a relatively common etiology of hearing loss, which can be progressive. Preventable causes of hearing loss include those caused by head trauma, noise, and ototoxic medications. Identification of the etiology of hearing loss can facilitate the development of a treatment and management plan.
The genetics of deafness.
Nance WE
Ment Retard Dev Disabil Res Rev · 2003 · PMID 12784229 · Publisher ↗
Deafness is an etiologically heterogeneous trait with many known genetic and environmental causes. Genetic factors account for at least half of all cases of profound congenital deafness, and can be classified by the mode...
Deafness is an etiologically heterogeneous trait with many known genetic and environmental causes. Genetic factors account for at least half of all cases of profound congenital deafness, and can be classified by the mode of inheritance and the presence or absence of characteristic clinical features that may permit the diagnosis of a specific form of syndromic deafness. The identification of more than 120 independent genes for deafness has provided profound new insights into the pathophysiology of hearing, as well as many unexpected surprises. Although a large number of genes can clearly cause deafness, recessive mutations at a single locus, GJB2 or Connexin 26, account for more than half of all genetic cases in some, but not all populations. The high frequency may well be related to the greatly improved social, educational, and economic circumstances of the deaf that began with the introduction of sign language 300-400 years ago, along with a high frequency of marriages among the deaf in many countries. Similar mechanisms may account for the rapid fixation of genes for speech after the first mutations appeared 50,000-100,000 years ago. Molecular studies have shown that mutations involving several different loci may be the cause for the same form of syndromic deafness. Even within a single locus, different mutations can have profoundly different effects, leading to a different pattern of inheritance in some cases, or isolated hearing loss without the characteristic syndromic features in others. Most cases of genetic deafness result from mutations at a single locus, but an increasing number of examples are being recognized in which recessive mutations at two loci are involved. For example, digenic interactions are now known to be an important cause of deafness in individuals who carry a single mutation at the Connexin 26 locus along with a deletion involving the functionally related Connexin 30 locus. This mechanism complicates genetic evaluation and counseling, but provides a satisfying explanation for Connexin 26 heterozygotes who, for previously unknown reasons, are deaf. A specific genetic diagnosis can sometimes be of great clinical importance, as in the case of the mitochondrial A1555G mutation which causes gene carriers to be exquisitely sensitive to the ototoxic effects of aminoglycosides. This potentially preventable genetic-environmental interaction was the most common cause of genetic deafness in countries where these antibiotics were used indiscriminately in the past. Advances in genetic knowledge along with the use of cochlear implants have posed unique ethical dilemmas for society as well as the deaf community. Since most deaf children are born to hearing parents, it seems likely that deaf culture, and intermarriages among those born with deafness will recede during this century. Will future critics view this as one of the medical triumphs of the 21(st) Century, or as an egregious example of cultural genocide? On the other hand, genetics can provide empowering knowledge to the deaf community that for the first time can allow many deaf couples to know whether their children will be hearing or deaf even before they are conceived.
Cost-effectiveness and test-performance factors in relation to universal newborn hearing screening.
Gorga MP, Neely ST
Ment Retard Dev Disabil Res Rev · 2003 · PMID 12784228 · Publisher ↗
The first portion of this paper reviews current understanding of the cost of universal newborn hearing screening (UNHS), including capital and operating expenses, as well as the costs for follow-up testing on infants who...
The first portion of this paper reviews current understanding of the cost of universal newborn hearing screening (UNHS), including capital and operating expenses, as well as the costs for follow-up testing on infants who do not pass the hearing screening test in the perinatal period. Capital expenses include the cost of equipment. Operating expenses include the costs for disposables and personnel. Follow-up costs relate to the diagnostic testing that must be performed in order to determine hearing status in those infants who do not pass the newborn hearing screening test. This section is followed by a more theoretical approach, in which test performance, prevalence, program costs, and "costs of hearing loss" are combined in a model that includes all costs of hearing loss, including screening, follow-up testing, and costs (benefits) associated with identifying hearing loss early in life. While some of the model's cost/benefit assumptions may be incorrect, the general approach of taking into account both costs and benefits provides a framework for evaluating the utility of UNHS in a more global manner. Model assumptions (costs, benefits, prevalence, sensitivity, specificity) can be changed to values deemed more appropriate, but the general approach is still informative. With the present assumptions, it is shown that initially, the costs of UNHS exceed its benefits. However, after only four years of operation, UNHS programs will result in a net savings to society. These savings increase rapidly, reaching a maximum annual benefit of seven billion dollars 75 years after initiation of the program, which is also the societal benefit for all years thereafter.
The otolaryngologist's role in management of hearing loss in infancy and childhood.
Doyle KJ, Ray RM
Ment Retard Dev Disabil Res Rev · 2003 · PMID 12784227 · Publisher ↗
This article reviews the role of the otolaryngologist-head and neck surgeon-in the diagnosis and treatment of hearing loss in infants and young children. The otolaryngologist is well-versed in the anatomy, physiology, an...
This article reviews the role of the otolaryngologist-head and neck surgeon-in the diagnosis and treatment of hearing loss in infants and young children. The otolaryngologist is well-versed in the anatomy, physiology, and pathophysiology of the auditory system, as well as the craniofacial syndromes that can involve the head and neck in combination with deafness. In this paper, the various causes of congenital hearing loss are described, as well as the steps required for proper diagnosis. Finally, surgeries used by otolaryngologists to treat childhood hearing loss, their indications, and outcomes, are discussed.
Family perceptions of early hearing, detection, and intervention systems: listening to and learning from families.
DesGeorges J
Ment Retard Dev Disabil Res Rev · 2003 · PMID 12784226 · Publisher ↗
As universal newborn hearing systems (screening, diagnosis, intervention) are being established around the world, the success of children who are identified to be deaf and hard of hearing is critically impacted by parent...
As universal newborn hearing systems (screening, diagnosis, intervention) are being established around the world, the success of children who are identified to be deaf and hard of hearing is critically impacted by parent's reactions, acceptance, and advocacy for their child. It is imperative for professionals who are creating systems for Early Hearing, Detection, and Intervention to understand and learn from families' experiences in order to improve this process. This manuscript will identify the areas in which parents have spoken out about the professionals they have encountered through the system: what parents wish for in a healthy, productive relationship with professionals; and how parents can play a part in advocating for a system in which families needs are met so that infants identified to be deaf or hard of hearing can reach their full potential.
The current status of EHDI programs in the United States.
White KR
Ment Retard Dev Disabil Res Rev · 2003 · PMID 12784225 · Publisher ↗
The importance of identifying congenital hearing loss during the first few months of life has been recognized for almost 60 years. Unfortunately, until more effective newborn hearing screening equipment and procedures we...
The importance of identifying congenital hearing loss during the first few months of life has been recognized for almost 60 years. Unfortunately, until more effective newborn hearing screening equipment and procedures were developed in the late 1980s, it was not practical to implement programs for identifying hearing loss during the first few months of life. This paper reviews the activities implemented by the federal government in the last 15 years to promote more effective Early Hearing Detection and Intervention (EHDI) programs, and summarizes legislation passed by states related to universal newborn hearing screening. In surveys conducted in 1998 and 2001, State EHDI Coordinators were asked to rate the degree to which various issues were obstacles to implementing effective EHDI programs. The most serious obstacles are the shortage of qualified pediatric audiologists, inadequate reimbursement for screening and diagnosis, and lack of knowledge among primary health care providers about EHDI issues. Opposition to EHDI programs by hospital administrators was rated substantially lower in 2001 than in 1998. State EHDI Coordinators were also surveyed about how well their EHDI program is addressing issues related to screening, diagnosis, early intervention, linkages to medical home providers, tracking and data management, and family support programs. Although substantial progress has been made, many gaps remain with current EHDI programs.
Quality monitoring for early hearing detection and intervention programs to optimize performance.
Finitzo T, Grosse S
Ment Retard Dev Disabil Res Rev · 2003 · PMID 12784224 · Publisher ↗
The purpose of this chapter is to review the principles of quality monitoring for newborn screening programs at both a hospital and a public health level. The focus is on quality assurance in Early Hearing Detection and...
The purpose of this chapter is to review the principles of quality monitoring for newborn screening programs at both a hospital and a public health level. The focus is on quality assurance in Early Hearing Detection and Intervention (EHDI). The chapter addresses the need for a systems approach to quality, beginning with the birth screening, moving to follow-up re-screening and on to confirmatory evaluations and life-long intervention and management for the infants identified with permanent hearing loss. Benchmarks are identified to assist those involved in establishing programs or in improving program performance. As the use of electronic information systems in EHDI becomes widespread, the importance of strict computer-based logic rules to assure patient privacy is addressed.
Screening methods: current status.
Hayes D
Ment Retard Dev Disabil Res Rev · 2003 · PMID 12784223 · Publisher ↗
Two technologies are currently used to screen newborn infants for hearing, auditory brainstem response (ABR), and otoacoustic emissions (OAEs). Each technology is based on detecting the infant's physiologic response to a...
Two technologies are currently used to screen newborn infants for hearing, auditory brainstem response (ABR), and otoacoustic emissions (OAEs). Each technology is based on detecting the infant's physiologic response to auditory stimulation. ABR is a short-latency auditory evoked response originating from eighth nerve and brainstem auditory pathway structures and detected by scalp surface electrodes. OAEs are auditory signals generated by cochlear outer hair cells in response to acoustic stimulation and detected by a miniature microphone coupled to the infant's ear. Although each technique requires specific sound generation and response recording technologies, advances in computerized stimulus delivery and response detection algorithms allow these tests to be performed by trained technicians or volunteers under the supervision of an audiologist. Results of test performance, and the advantages and disadvantages of each technique are described.
Overview: Infants and children with hearing loss-part I.
Vohr B
Ment Retard Dev Disabil Res Rev · 2003 · PMID 12784222 · Publisher ↗
Abstract loading — click title to view on PubMed.
Perinatal substance abuse and human subjects research: are privacy protections adequate?
Marshall MF, Menikoff J, Paltrow LM
Ment Retard Dev Disabil Res Rev · 2003 · PMID 12587139 · Publisher ↗
Privacy incursions in the clinical care of substance abusing pregnant women have gained lay and professional attention recently as the result of a high-profile Supreme Court finding in Ferguson vs City of Charleston et a...
Privacy incursions in the clinical care of substance abusing pregnant women have gained lay and professional attention recently as the result of a high-profile Supreme Court finding in Ferguson vs City of Charleston et al. In March, 2001 the Supreme Court determined that nonconsensual drug screening of pregnant women by clinicians in a public hospital violated the women's Fourth Amendment rights to be secure against unreasonable search and seizure. Coercive or punitive policy approaches to perinatal substance abuse are often based on mistaken assumptions about the nature of addiction and the outcomes of punitive interventions. Much attention has been given to efforts to criminalize pregnancy for drug using women, and civil laws are also coming under increasing scrutiny. Although no state has passed a law criminalizing pregnancy and drug use, an estimated 250 women in more than 30 states have been prosecuted around the country on theories of "fetal abuse." A growing number of states (eighteen to date) have amended their civil child welfare laws to address specifically the subject of a woman's drug use during pregnancy. No one has examined how these laws and social policies could affect research that includes pregnant and parenting women; women (and their families) who stand to lose a great deal should their drug use be brought to the attention of child welfare or criminal justice authorities. We examine the adequacy of current protective mechanisms, such as federal certificates of confidentiality, in protecting research subjects (and investigators) who may be subject to punitive civil or criminal sanctions. We determine that current protective mechanisms may be insufficient to protect research subjects and that investigators and IRB members are often ignorant of the risks imposed by punitive policy approaches to perinatal substance abuse or fall prey to the same mistaken assumptions that inform punitive policies. We conclude that investigators and IRB members have a moral responsibility to understand local, state and national policies and laws governing perinatal substance abuse. Investigators and IRB members should balance the harms of punitive interventions against the protections that may, or may not be afforded to prospective research subjects as well as the prospective benefits, individual and social, of the research. In situations where criminal or punitive policies are in effect, investigators and IRB members should consider whether adequate protections can be achieved. In the context of inadequate protections, potential risks to prospective research subjects and their families may outweigh the individual or social benefits that accrue from the research. Clinical researchers are professionally obligated to work toward amending laws and policies that are not in the best interests of prospective research subjects.
Ethical aspects of research into the etiology of autism.
Chen DT, Miller FG, Rosenstein DL
Ment Retard Dev Disabil Res Rev · 2003 · PMID 12587138 · Publisher ↗
Advances in understanding autism and other developmental neuropsychiatric disorders will come from an integration of various research strategies including phenomenologic, functional neuroimaging, and pharmacologic method...
Advances in understanding autism and other developmental neuropsychiatric disorders will come from an integration of various research strategies including phenomenologic, functional neuroimaging, and pharmacologic methods, as well as epidemiologic approaches aimed at identifying genetic and environmental risk factors. The highly heritable nature of autism makes it scientifically valuable to involve parents and siblings as research participants. However, many studies on autism pose ethical challenges because they do not offer the prospect of direct benefit to subjects. In this article, we present an in-depth ethical analysis of current nontherapeutic research strategies that are common in autism research. The ethical analysis applies a proposed ethical framework for evaluating clinical research focusing on seven ethical requirements: (1) social or scientific value, (2) scientific validity, (3) fair subject selection, (4) favorable risk-benefit ratio, (5) independent review, (6) informed consent, and (7) respect for potential and enrolled research participants.
Disability rights critique of prenatal genetic testing: reflections and recommendations.
Parens E, Asch A
Ment Retard Dev Disabil Res Rev · 2003 · PMID 12587137 · Publisher ↗
Using prenatal tests to prevent the birth of babies with disabilities seems to be self-evidently good to many people. Even if the testing will not help bring a healthy baby to term this time, it gives prospective parents...
Using prenatal tests to prevent the birth of babies with disabilities seems to be self-evidently good to many people. Even if the testing will not help bring a healthy baby to term this time, it gives prospective parents a chance to try again to conceive. To others, however, prenatal testing looks rather different. If one thinks about the history of our society's treatment of people with disabilities, it is not hard to see why people identified with the disability rights movement might regard such testing as dangerous. For the members of this movement, living with disabling traits need not be detrimental to an individual's prospects of leading a worthwhile life, or to the families in which they grow up, or to society at large. Although the movement has no one position on prenatal diagnosis, many of its adherents believe that public support for prenatal diagnosis and abortion based on disability contravenes the movement's basic philosophy and goals.
About
- Frequency
- Sun
- Papers found
- 200
- RSS feed
- Subscribe