Developmental Disabilities Research Reviews最新文献

Advances in the identification of the early signs of autism spectrum disorder (ASD) have occurred despite the heterogeneity of the disorder and its variable onset and presentation. Using various methodologies including retrospective studies, community samples, and sibling cohorts, researchers have identified behavioral markers of the disorder that emerge over the first 2 years of life. However, there are characteristics of ASD that overlap with other types of developmental delay (DD), which may complicate differential diagnosis in young children. A review of the literature was conducted to identify the most promising behavioral markers that distinguish ASD from other types of DD in the first 2 years of life. The review identified profiles of behavioral markers in the social realm by 12 months and in the communication realm by 18 months, which along with additional atypical motor behaviors could distinguish ASD from DD. This constellation of features coupled with a flat or declining trajectory in specific aspects of social and communication development, may assist clinicians in targeting early interventions to at-risk infants. © 2013 Wiley Periodicals, Inc. Dev Disabil Res Rev 2011;17:130–140.

Cerebral palsy (CP) is the most severe physical disability within the spectrum of developmental delay. CP is an umbrella term describing a group of motor disorders, accompanied by many associated impairments. The disability is a result of injuries to the developing brain occurring any time from the first trimester of pregnancy through to early childhood. However, for the great majority, their full etiological causal pathway remains unclear. It is important to discriminate as early as possible between: (a) mild or nonspecific motor delay, (b) developmental coordination disorder, (c) syndromes, (d) metabolic and progressive conditions, and (e) CP with its various motor types and distributions. The most promising predictive tool for CP is the general movements assessment, which assesses the quality of spontaneous movements of infants in the first 4 months of life. We propose a change in diagnostic practice. We recommend a shift away from referral for intervention following a formal (most often late) description of CP, to one of referral for intervention whichoccurs immediately once an infant is considered “at risk” of CP. © 2013 Wiley Periodicals, Inc. Dev Disabil Res Rev 2011;17:114–129.

This article presents current neurobiological concepts that highlight the critical role of chronological age in determining optimal development. The role of sensitive periods, experience expectancy, gene expression, and gene–age interactions is discussed. The debate between “splitters” and “lumpers” is presented in light of the review articles in this special issue. The conclusion from this study is that in a significant proportion of cases, earlier diagnoses are possible, avoiding the all-encompassing developmental delay/global developmental delay, and opening up possibilities of early interventions. It is further argued that research methodology might benefit from early diagnoses as well. © 2013 Wiley Periodicals, Inc. Dev Disabil Res Rev 2011;17:180–184.

Both small-scale and epidemiological longitudinal studies of early language delay indicate that most late talkers attain language scores in the average range by age 5, 6, or 7. However, late talker groups typically obtain significantly lower scores than groups with typical language histories on most language measures into adolescence. These findings support a dimensional account of language delay, whereby late talkers and typically developing peers differ quantitatively on a hypothetical language ability spectrum. Variation in language ability is presumed to derive from variation in skills subserving language, such as auditory perception/processing, word retrieval, verbal working memory, motor planning, phonological discrimination, and grammatical rule learning. Expressive language screening at 18–35 months can serve an important public health function by identifying children whose expressive delay is secondary to autism spectrum disorder, intellectual disability, hearing impairment, receptive language delay, or demographic risk. Finally, the review suggests that demographic risk associated with low SES may become more important as a causal factor in language delay as children get older. © 2013 Wiley Periodicals, Inc. Dev Disabil Res Rev 2011;17:141–150.

Pediatricians play a leading role in the detection, diagnosis, and management of children with global developmental delay (GDD) and mental retardation (MR). Assessment, investigation, and consultation with the family are the prime responsibility of the developmental pediatrician, in collaboration with a multidisciplinary team. The model used by the developmental pediatrician depends on the community health framework. Significant progress has been recently achieved in identifying underlying etiologies, using a variety of laboratory tests including neuroimaging and genetic and metabolic investigations. Although being used to achieve an acceptable yield, this progress in diagnostic investigations should be associated with proper weighing of the value of each test to the diagnostic process. Optimal utilization of this rapidly expanding knowledge can only be accomplished in the setting of in-depth clinical evaluation, including a thoughtful assessment of the child and family needs. In this article, the literature on the process of clinical evaluation and laboratory work-up of the child with GDD/MR is reviewed, with an emphasis on a multidisciplinary team approach to the child and family needs. An integrated model used by the developmental pediatrician that relates to the process of evaluation and management as well as the consequences of the diagnosis on the child, his/her family, and the community is suggested. © 2013 Wiley Periodicals, Inc. Dev Disabil Res Rev 2011;17:85–92.

Early language delay (ELD) is a warning sign that may presage the presence of a later language impairment (LI). In order to allow more targeted identification and earlier intervention for LI, better diagnostic measures for toddlers are needed. Development of accurate predictive/diagnostic models requires consideration of a set of complex interrelated questions around definition, causality, and theories of LIs. A multifactorial model of language development and LI is essential to increase the accuracy of prediction. This article examines what is known about LI in the preschool years and language delay in toddlers, and examines these in relation to the Procedural Deficit Hypothesis (Ullman and Pierpont, [2005] Cortex 41:399–433] and the Statistical Learning Account (Stokes et al., [2012a] J Speech Lang Hear Res; Stokes et al., [2012b] J Child Lang 39:105–129) to suggest a new framework for characterizing ELD to better assist prediction of later LI. © 2013 Wiley Periodicals, Inc. Dev Disabil Res Rev 2012;17:160–169.

Neurobehavioral teratology refers to the study of the abnormal development of the structure and the behavioral functions of the central nervous system, which result from exposure to exogenous agents during prenatal development. The focus of this review is the effects of various prenatal exposures on human neurodevelopment. Studies that deal with the adverse effects of infectious agents (rubella, cytomegalovirus, and toxoplasma), teratogenic drugs (e.g., antiepileptic drugs such as phenytoin, valproate, and carbamazepine, coumarin derivatives, and retinoids), alcohol, and other substances of abuse will be reviewed. Additionally, prenatal exposure to industrial or environmental chemicals (e.g., lead, methylmercury, and polycarbonated biphenyls) as well as exposure of the embryo or fetus to high amounts of ionizing radiation will be addressed. Possible mechanisms of selected neurobehavioral teratogens will also be discussed. © 2013 Wiley Periodicals, Inc. Dev Disabil Res Rev 2011;17:71–84.

The challenge of identifying infants who are at risk for developmental delay and possible adverse neurodevelopmental outcome demands methods of evaluation that will lead to early intervention to minimize developmental disability and to maximize the infant's potential. A qualitative assessment of spontaneous general movements (GMs) in the preterm, term, and young infant at risk is a valid and reliable tool for evaluation (Prechtl [1990] Early Hum. Dev. 23:151–158). The aim of this review is to describe the theoretical and clinical bases for the assessment of GMs and its relationship to developmental delay and brain dysfunction. Thirty-seven studies related to the predictive validity of GMs were included in this review. Results suggested that consistent cramped synchronized GMs are highly predictive of later development of cerebral palsy. The fidgety movement quality that appears at the age of 2 to 3 months was found to be a most sensitive predictor of neurodevelopmental outcome in different populations of infants. © 2013 Wiley Periodicals, Inc. Dev Disabil Res Rev 2011;17:93–101.

The effective identification of neurodevelopmental disorders is essential for early diagnosis and provision of intervention services. For many of these conditions, one of the primary domains of abnormality is language development. This review addresses what is known about the earliest indicators of language impairment across a range of neurodevelopmental disorders; consideration is given to both behavioral and neural markers, as well as patterns of change over time. A summary of the current state of the field, including challenges in research, is presented. The earliest features of the language phenotype in Down syndrome, Williams syndrome, Fragile X, specific language impairment (SLI), and autism spectrum disorder (ASD) are described, along with recent findings in the early neural markers of language impairment in SLI and ASD. © 2013 Wiley Periodicals, Inc. Dev Disabil Res Rev 2011;17:151–159.