Children in foster care are at high risk for developmental delay. In this retrospective cohort study of young children presenting to a foster care clinic, 77% were not receiving developmental ...services and 75% failed developmental screening. Of those potentially eligible, 60% were not referred for developmental services.
During the past 30 years, research into developmental disorders has fragmented, emphasizing differences rather than commonalities. We propose that reunification might be achieved by using a ...‘neural-systems’ approach. Deficits in dyslexia are attributed to an intact declarative learning system combined with an impaired procedural learning system – a network that includes prefrontal language systems and basal ganglia, parietal and cerebellar structures. A typology is provided for other prevalent learning disabilities; this framework focuses on different learning skills in the understanding of learning disabilities and emphasizes the diagnostic significance of ‘secondary’ symptoms. This approach highlights the need for development of ‘neurocognitive’ tests to probe the function of components of each neural system and improve strategies for explanation, diagnosis and support of developmental disorders.
Objective.
Analyze evidence of the benefits of physical activity for youth with developmental disabilities.
Data Sources.
Key word searches for “disability,” “physical activity,” “exercise,” ...“fitness,” and “sport” in major databases. A total of 3263 citations was found.
Study Inclusion/Exclusion Criteria.
Systematic reviews and articles about studies quantitatively examining the effects of physical activity in youth with developmental disabilities ages 0 to 20 years were included. Only articles published in English in peer-reviewed journals were included.
Data Extraction.
A Measurement Tool to Assess Reviews criteria were used for systematic reviews; Grading of Recommendations, Assessment, Development, Evaluation criteria were used for observational studies; and Population, Intervention, Comparison, Outcome criteria were used for all studies.
Data Synthesis.
Data, shown in table format, were synthesized in relation to five research questions.
Results.
Three systematic reviews and 14 studies were reviewed. Strong evidence indicated that children and adolescents with developmental disabilities derive health benefits from participation in group exercise programs, treadmill training, or therapeutic riding/hippotherapy. Lesser levels of evidence indicated that health benefits might be present for adapted skiing or aquatic programs. Documented benefits of physical activity include improvements in aerobic capacity, improved gross motor function, and high levels of participant/parent satisfaction.
Conclusions.
Evidence exists that physical activity is beneficial for youth with developmental disabilities. Further research studies are needed that are of greater scientific rigor including larger sample sizes, control groups, and stringent, replicable methodology.
This paper discusses recent research and development with a specific focus on selected new and emerging research-based augmentative and alternative communication (AAC) technologies that are ...developmentally appropriate and responsive to the individual interests, needs, and skills of children with developmental disabilities, their families, peers, and other communication partners. Specifically, this paper reviews the state of the science and future directions related to recent research and development of AAC technologies as supports to (a) enhance language learning, (b) facilitate social interaction, (c) improve literacy skills, (d) increase participation in society, and (e) teach interaction strategies to communication partners.
This article reviews recent studies connecting chronic stress to health outcomes in parents of children with intellectual and developmental disabilities (I/DD). This review is timely owing to the ...increased rates of certain I/DD conditions and the adverse effects that chronic stressors may have on parental health.
Although parents raising children with (versus without) I/DD have long reported greater levels of psychological stress, only recently have parental physical health problems been linked to aspects of the child with I/DD.
Chronic stressors can wear down the body, particularly the cardiovascular, immune, and gastrointestinal systems. So far, increased rates of caregiver health problems have been linked to caring for an elderly parent or for a child with recurrent cancer. Parents of children with I/DD also more often encounter severe, chronic stressors, particularly those involving child behavior problems and extreme caregiving need. These child characteristics, especially for older parents or for parents of children with certain conditions (e.g. spina bifida), may adversely affect parental health. More research is needed to explore stress-health connections among parents of children with I/DD, as well as the clinical and policy implications of such findings.
The field of applied behavior analysis emphasizes the importance of conducting functional assessment before treatment development for problem behavior. There is, however, little information regarding ...the extent to which practitioners are using functional assessment in applied settings for individuals with developmental disabilities (DD). The purpose of the current study was to conduct a survey to assess the degree to which various types of functional assessment are implemented in agencies that serve individuals with DD in Massachusetts. Practitioners were asked to indicate their perception about and use of the various categories of functional assessment (e.g., indirect assessment, descriptive assessment, and functional analysis). From the 205 respondents who completed the survey, the most frequently used functional assessment was descriptive assessment. Results indicated that although the majority (67.8%) of practitioners believe functional analysis to be the most informative assessment tool for selecting behavioral treatment, only 34.6% of respondents indicated that they typically use functional analysis to inform the development of a behavior plan.
Mutations in genes encoding proteins that are involved in mitochondrial heme synthesis, iron-sulfur cluster biogenesis, and mitochondrial protein synthesis have previously been implicated in the ...pathogenesis of the congenital sideroblastic anemias (CSAs). We recently described a syndromic form of CSA associated with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). Here we demonstrate that SIFD is caused by biallelic mutations in TRNT1, the gene encoding the CCA-adding enzyme essential for maturation of both nuclear and mitochondrial transfer RNAs. Using budding yeast lacking the TRNT1 homolog, CCA1, we confirm that the patient-associated TRNT1 mutations result in partial loss of function of TRNT1 and lead to metabolic defects in both the mitochondria and cytosol, which can account for the phenotypic pleiotropy.
•SIFD is a syndromic form of congenital sideroblastic anemia associated with immunodeficiency, periodic fevers, and developmental delay.•SIFD is due to partial loss-of-function mutations in the CCA-adding enzyme TRNT1.
Parenteral nutrition solutions, artificial formulas, and human breast milk contain insufficient iodine to meet recommended intakes for preterm infants. Iodine deficiency may exacerbate transient ...hypothyroxinaemia in preterm infants and this may be associated with adverse neonatal and longer-term outcomes.
To assess the evidence from randomised controlled trials that dietary supplementation with iodine reduces mortality and morbidity in preterm infants.
We used the standard search strategy of Cochrane Neonatal to search the Cochrane Central Register of Controlled Trials (CENTRAL 2018, Issue 1), Ovid MEDLINE, Ovid Embase, Ovid Maternity & Infant Care Database, and CINAHL to February 2018. We searched clinical trials databases, conference proceedings, and the reference lists of retrieved articles for randomised controlled trials and quasi-randomised trials.
Randomised or quasi-randomised controlled trials that compared supplementing enteral or parenteral feeds with iodine (as iodide salt) versus placebo or no supplementation in preterm infants.
Two review authors independently assessed trial eligibility and risk of bias, and extracted data. We analysed treatment effects as described in the individual trials and reported risk ratios (RR) and risk differences for dichotomous data, and mean differences (MD) for continuous data, with 95% confidence intervals (CI). We used a fixed-effect model in meta-analyses and planned to explore potential causes of heterogeneity in sensitivity analyses. We used the GRADE approach to assess the quality of evidence.
Two randomised controlled trials fulfilled the eligibility criteria. Both trials used methods to limit bias including allocation concealment and blinding of clinicians and investigators to the allocated intervention. The trials enrolled 1394 infants. One trial recruited 1273 participants. Most participants were born very preterm (less than 32 weeks' gestation) and about one-third were extremely preterm (less than 28 weeks' gestation). Analyses found no effect of iodine supplementation on mortality before hospital discharge (typical RR 1.01, 95% CI 0.72 to 1.42; 2 studies, 1380 infants) or on neurodevelopmental assessments at two years post-term (Bayley Scales of Infant and Toddler Development, Third Edition main domain composite scores: cognitive: MD -0.30, 95% CI -2.44 to 1.84; motor: MD 0.20, 95% CI -2.15 to 2.55; language: MD -0.10, 95% CI -2.50 to 2.30; 1 study, 1259 infants). There were no differences in the proportion of infants who died or had a composite score less than 85 in any main Bayley domain (RR 1.05, 95% CI 0.94 to 1.17; 1 study, 1259 infants), or had visual impairment (RR 0.63, 95% CI 0.28 to 1.45; 1 study, 1092 infants) or auditory impairment (RR 1.05, 95% CI 0.51 to 2.16; 1 study, 1093 infants). Using GRADE methods, we assessed the evidence for the effects on mortality and neurodevelopment outcomes as high-certainty.
The available trial data, predominantly from one large, high-quality multicentre study published in 2017, do not show any evidence of beneficial effects of iodine supplementation for preterm infants. Given the high certainty of these estimates of effect, further trials of this intervention in this population are unlikely to be considered research priorities.
To better understand disparities between Latino and White children with autism or other developmental disabilities (ASD/DD), we examined whether Latino ethnicity predicted the number of specialty ...care services received by children with severe functional limitations depending on medical providers' responses to parents' initial concerns about their child's development. Through linkage of the Pathways and NS-CSHCN datasets, we found ethnic disparities in the receipt of specialty services associated with providers' responsiveness to parent-reported concerns among children with ASD/DD. Among children with significant functional limitations, Latino children whose parents received passive/reassuring responses from their providers were less likely to receive specialty services than White children with ASD/DD. Providers' guidance to parents may be a promising point of intervention for future disparity reduction efforts. This manuscript was presented at the annual Gatlinburg Conference, San Diego, CA (April, 2018).
Certain mutations can cause proteins to accumulate in neurons, leading to neurodegeneration. We recently showed, however, that upregulation of a wild-type protein, Ataxin1, caused by ...haploinsufficiency of its repressor, the RNA-binding protein Pumilio1 (PUM1), also causes neurodegeneration in mice. We therefore searched for human patients with PUM1 mutations. We identified eleven individuals with either PUM1 deletions or de novo missense variants who suffer a developmental syndrome (Pumilio1-associated developmental disability, ataxia, and seizure; PADDAS). We also identified a milder missense mutation in a family with adult-onset ataxia with incomplete penetrance (Pumilio1-related cerebellar ataxia, PRCA). Studies in patient-derived cells revealed that the missense mutations reduced PUM1 protein levels by ∼25% in the adult-onset cases and by ∼50% in the infantile-onset cases; levels of known PUM1 targets increased accordingly. Changes in protein levels thus track with phenotypic severity, and identifying posttranscriptional modulators of protein expression should identify new candidate disease genes.
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•The brain is sensitive to levels of PUM1 and some of its targets•PUM1 haploinsufficiency causes developmental delay, ataxia, and other problems•Mutations that reduce PUM1 levels by 25% are associated with adult-onset ataxia•Regulators of disease-driving proteins are a pool of new candidate disease genes
Different dosages of an RNA-binding protein result in human neurological diseases of corresponding severities.
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