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The International Journal of Behavioral... Jul 2022Children and adolescents with intellectual disabilities (IDs) tend to have lower levels of physical activity and poorer mental health than their typically developing... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Children and adolescents with intellectual disabilities (IDs) tend to have lower levels of physical activity and poorer mental health than their typically developing peers. Studies on the effects of physical activity on the mental health of children with IDs using the Reach, Effectiveness, Adoption, Implementation, and Maintenance (RE-AIM) framework are scarce.
METHODS
A systematic literature review using six databases (CINAHL, Eric, PsycINFO, PubMed, SPORTDiscus, and Web of Science) was conducted from January 2000 to September 2021. Studies reporting at least one physical activity intervention and mental health outcome in children and adolescents with IDs aged between 5 and 17 years were included in the meta-analysis. Preferred Reporting Items for Systematic Review and Meta-Analysis guideline, Comprehensive Meta-Analysis, and the RE-AIM framework were utilized.
RESULTS
A total of 15 studies that met the inclusion criteria were included in the meta-analysis. The effects of physical activity on mental health in children and adolescents with IDs were significant and large (Hedges' g = 0.897, p < 0.01), with medium effects on psychological health (Hedges' g = 0.542, p < 0.01) and large effects on cognitive function (Hedges' g = 1.236, p < 0.01). Randomized controlled trial (RCT) design and intervention components (> 120 minutes per week, therapeutic, and aerobic exercise) demonstrated the strongest effects. Moreover, study background (publication year, study location, and sample size), participant characteristics (age and sex), and Maintenance (RE-AIM framework) moderated the effects of physical activity on mental health. Based on the RE-AIM framework, there were higher proportions in the dimensions of Reach and Effectiveness than Adoption, Implementation, and Maintenance.
CONCLUSIONS
Physical activity appears to have positive effects on mental health, including psychological health and cognitive function, in children and adolescents with IDs. Physical activity interventions using the RE-AIM framework are recommended to assess short- and long-term impacts and translate scientific evidence into practice.
TRIAL REGISTRATION
The protocol for this meta-analysis was registered with PROSPERO ( CRD42021256543 ).
Topics: Adolescent; Child; Child, Preschool; Exercise; Humans; Intellectual Disability; Mental Health
PubMed: 35799257
DOI: 10.1186/s12966-022-01312-1 -
Orphanet Journal of Rare Diseases May 2021Calcium ions are involved in several human cellular processes including corticogenesis, transcription, and synaptogenesis. Nevertheless, the relationship between calcium... (Review)
Review
BACKGROUND
Calcium ions are involved in several human cellular processes including corticogenesis, transcription, and synaptogenesis. Nevertheless, the relationship between calcium channelopathies (CCs) and intellectual disability (ID)/global developmental delay (GDD) has been poorly investigated. We hypothesised that CCs play a major role in the development of ID/GDD and that both gain- and loss-of-function variants of calcium channel genes can induce ID/GDD. As a result, we performed a systematic review to investigate the contribution of CCs, potential mechanisms underlying their involvement in ID/GDD, advancements in cell and animal models, treatments, brain anomalies in patients with CCs, and the existing gaps in the knowledge. We performed a systematic search in PubMed, Embase, ClinVar, OMIM, ClinGen, Gene Reviews, DECIPHER and LOVD databases to search for articles/records published before March 2021. The following search strategies were employed: ID and calcium channel, mental retardation and calcium channel, GDD and calcium channel, developmental delay and calcium channel.
MAIN BODY
A total of 59 reports describing 159 cases were found in PubMed, Embase, ClinVar, and LOVD databases. Variations in ten calcium channel genes including CACNA1A, CACNA1C, CACNA1I, CACNA1H, CACNA1D, CACNA2D1, CACNA2D2, CACNA1E, CACNA1F, and CACNA1G were found to be associated with ID/GDD. Most variants exhibited gain-of-function effect. Severe to profound ID/GDD was observed more for the cases with gain-of-function variants as compared to those with loss-of-function. CACNA1E, CACNA1G, CACNA1F, CACNA2D2 and CACNA1A associated with more severe phenotype. Furthermore, 157 copy number variations (CNVs) spanning calcium genes were identified in DECIPHER database. The leading genes included CACNA1C, CACNA1A, and CACNA1E. Overall, the underlying mechanisms included gain- and/ or loss-of-function, alteration in kinetics (activation, inactivation) and dominant-negative effects of truncated forms of alpha1 subunits. Forty of the identified cases featured cerebellar atrophy. We identified only a few cell and animal studies that focused on the mechanisms of ID/GDD in relation to CCs. There is a scarcity of studies on treatment options for ID/GDD both in vivo and in vitro.
CONCLUSION
Our results suggest that CCs play a major role in ID/GDD. While both gain- and loss-of-function variants are associated with ID/GDD, the mechanisms underlying their involvement need further scrutiny.
Topics: Calcium; Calcium Channels, L-Type; Channelopathies; Child; DNA Copy Number Variations; Developmental Disabilities; Humans; Intellectual Disability
PubMed: 33985586
DOI: 10.1186/s13023-021-01850-0 -
American Journal of Medical Genetics.... Jul 2014Prevalence estimates for fragile X syndrome vary considerably. This systematic review and meta-analysis was conducted to provide an accurate prevalence estimate for this... (Meta-Analysis)
Meta-Analysis Review
Prevalence estimates for fragile X syndrome vary considerably. This systematic review and meta-analysis was conducted to provide an accurate prevalence estimate for this disorder using primary publications in PubMed, Embase, and the Cochrane library. Data were pooled using Bayesian fixed-effects and random-effects models. Primary analyses assessed the frequency of the full mutation and premutation in males and females in the total population (no bias against individuals with intellectual disability) and in female carriers of the premutation in normal populations (biased against individuals with intellectual disability), based on diagnosis by polymerase chain reaction or Southern blotting. A sensitivity analysis included studies using any diagnostic testing method and conference abstracts. Sixty-eight recorded observations provided data for the primary (56 observations) and sensitivity (12 observations) analysis. Using the random-effects model, frequency of the full mutation was 1.4 (95% CI: 0.1-3.1) per 10,000 males and 0.9 (95% CI: 0.0-2.9) per 10,000 females (1:7,143 and 1:11,111, respectively) in the total population. The premutation frequency was 11.7 (95% CI: 6.0-18.7) per 10,000 males and 34.4 (95% CI: 6.3-83.3) per 10,000 for females (1:855 and 1:291, respectively) in the total population. The prevalence of female carriers of the premutation in the normal population was 34.4 (95% CI: 8.9-60.3) per 10,000, or 1:291. Sensitivity analyses resulted in similar prevalence estimates but with wider heterogeneity. Prevalence estimates for the full mutation from this meta-analysis are lower than those in previous reviews of fragile X syndrome epidemiological data.
Topics: Female; Fragile X Mental Retardation Protein; Fragile X Syndrome; Heterozygote; Humans; Intellectual Disability; Male; Mutation; Population Surveillance; Prevalence; Sex Factors
PubMed: 24700618
DOI: 10.1002/ajmg.a.36511 -
Epilepsia Jan 2021Clinical genetic sequencing is frequently utilized to diagnose individuals with neurodevelopmental disorders (NDDs). Here we perform a meta-analysis and systematic... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
Clinical genetic sequencing is frequently utilized to diagnose individuals with neurodevelopmental disorders (NDDs). Here we perform a meta-analysis and systematic review of the success rate (diagnostic yield) of clinical sequencing through next-generation sequencing (NGS) across NDDs. We compare the genetic testing yield across NDD subtypes and sequencing technology.
METHODS
We performed a systematic review of the PubMed literature until May 2020. We included clinical sequencing studies that utilized NGS in individuals with epilepsy, autism spectrum disorder (ASD), or intellectual disability (ID). Data were extracted, reviewed, and categorized according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Two investigators performed clinical evaluation and grouping following the International League Against Epilepsy (ILAE) guidelines. Pooled rates of the diagnostic yield and 95% confidence intervals were estimated with a random-effects model.
RESULTS
We identified 103 studies (epilepsy, N = 72; ASD, N = 14; ID, N = 21) across 32,331 individuals. Targeted gene panel sequencing was used in 73, and exome sequencing in 36 cohorts. Given highly selected patient cohorts, the diagnostic yield was 17.1% for ASD, 24% for epilepsy, and 28.2% for ID (23.7% overall). The highest diagnostic yield for epilepsy subtypes was observed in individuals with ID (27.9%) and early onset seizures (36.8%). The diagnostic yield for exome sequencing was higher than for panel sequencing, even though not statistically significant (27.2% vs 22.6%, P = .071). We observed that clinical sequencing studies are performed predominantly in countries with a high Inequality-adjusted Human Development Index (IHDI) (countries with sequencing studies: IHDI median = 0.84, interquartile range [IQR] = 0.09 vs countries without sequencing studies: IHDI median = 0.56, IQR = 0.3). No studies from Africa, India, or Latin America were identified, indicating potential barriers to genetic testing.
SIGNIFICANCE
This meta-analysis and systematic review provides a comprehensive overview of clinical sequencing studies of NDDs and will help guide policymaking and steer decision-making in patient management.
Topics: Age of Onset; Autism Spectrum Disorder; Epilepsy; High-Throughput Nucleotide Sequencing; Humans; Intellectual Disability; Sequence Analysis, DNA; Exome Sequencing
PubMed: 33200402
DOI: 10.1111/epi.16755 -
Pediatrics Sep 2014Global developmental delay and intellectual disability are relatively common pediatric conditions. This report describes the recommended clinical genetics diagnostic... (Review)
Review
Global developmental delay and intellectual disability are relatively common pediatric conditions. This report describes the recommended clinical genetics diagnostic approach. The report is based on a review of published reports, most consisting of medium to large case series of diagnostic tests used, and the proportion of those that led to a diagnosis in such patients. Chromosome microarray is designated as a first-line test and replaces the standard karyotype and fluorescent in situ hybridization subtelomere tests for the child with intellectual disability of unknown etiology. Fragile X testing remains an important first-line test. The importance of considering testing for inborn errors of metabolism in this population is supported by a recent systematic review of the literature and several case series recently published. The role of brain MRI remains important in certain patients. There is also a discussion of the emerging literature on the use of whole-exome sequencing as a diagnostic test in this population. Finally, the importance of intentional comanagement among families, the medical home, and the clinical genetics specialty clinic is discussed.
Topics: Developmental Disabilities; Disability Evaluation; Female; Humans; Intellectual Disability; Karyotyping; Male
PubMed: 25157020
DOI: 10.1542/peds.2014-1839 -
Frontiers in Public Health 2023The provisions of the United Nation's Sustainable Development Goals (SDGs) for disability-inclusive education have stimulated a growing interest in ascertaining the...
AIM
The provisions of the United Nation's Sustainable Development Goals (SDGs) for disability-inclusive education have stimulated a growing interest in ascertaining the prevalence of children with developmental disabilities globally. We aimed to systematically summarize the prevalence estimates of developmental disabilities in children and adolescents reported in systematic reviews and meta-analyses.
METHODS
For this umbrella review we searched PubMed, Scopus, Embase, PsycINFO, and Cochrane Library for systematic reviews published in English between September 2015 and August 2022. Two reviewers independently assessed study eligibility, extracted the data, and assessed risk of bias. We reported the proportion of the global prevalence estimates attributed to country income levels for specific developmental disabilities. Prevalence estimates for the selected disabilities were compared with those reported in the Global Burden of Disease (GBD) Study 2019.
RESULTS
Based on our inclusion criteria, 10 systematic reviews reporting prevalence estimates for attention-deficit/hyperactivity disorder, autism spectrum disorder, cerebral palsy, developmental intellectual disability, epilepsy, hearing loss, vision loss and developmental dyslexia were selected from 3,456 identified articles. Global prevalence estimates were derived from cohorts in high-income countries in all cases except epilepsy and were calculated from nine to 56 countries. Sensory impairments were the most prevalent disabilities (approximately 13%) and cerebral palsy was the least prevalent disability (approximately 0.2-0.3%) based on the eligible reviews. Pooled estimates for geographical regions were available for vision loss and developmental dyslexia. All studies had a moderate to high risk of bias. GBD prevalence estimates were lower for all disabilities except cerebral palsy and intellectual disability.
CONCLUSION
Available estimates from systematic reviews and meta-analyses do not provide representative evidence on the global and regional prevalence of developmental disabilities among children and adolescents due to limited geographical coverage and substantial heterogeneity in methodology across studies. Population-based data for all regions using other approaches such as reported in the GBD Study are warranted to inform global health policy and intervention.
Topics: Adolescent; Child; Humans; Autism Spectrum Disorder; Cerebral Palsy; Developmental Disabilities; Dyslexia; Epilepsy; Intellectual Disability; Prevalence; Systematic Reviews as Topic
PubMed: 36891340
DOI: 10.3389/fpubh.2023.1122009 -
PloS One 2019Although caring for a child with intellectual and developmental disabilities (IDD) can have positive outcomes, parents may be at a greater risk of depression and... (Meta-Analysis)
Meta-Analysis
INTRODUCTION
Although caring for a child with intellectual and developmental disabilities (IDD) can have positive outcomes, parents may be at a greater risk of depression and anxiety, due to a number of associated stressors, such as increased caregiver demands and financial strain. This systematic review updates previous data, exploring the relationship between parenting a child with IDD and parental depression and anxiety.
METHODS
Five electronic databases were searched for eligible English-language articles, published between January 2004 and July 2018. All epidemiological study designs were eligible, provided the level of depression and/or anxiety was compared between parents of children (aged <18) with and without IDD. No limit was placed on geographic location. The proportion of positive associations between parenting a child with IDD and depression/anxiety were disaggregated by disability type, geographic region, and sample size. The percentage of parents at risk of moderate depression or anxiety were calculated using recognised clinical cut-off scores for each screening tool. Meta-analyses, in which pooled effect sizes of elevated depression and anxiety symptoms were calculated, were conducted across two IDD conditions, autism and cerebral palsy.
RESULTS
Of the 5,839 unique records screened, 19 studies fulfilled the inclusion criteria. The majority of studies were conducted in high-income (n = 8, 42%) or upper-middle income countries (n = 10, 53%). Of the 19 studies, 69% focused on parents of children with cerebral palsy (n = 7, 37%) or autism (n = 6, 32%). Nearly all studies found a positive association between parenting a child with IDD and depression (n = 18, 95%) and anxiety (n = 9, 90%) symptoms. Factors associated with higher levels of depression symptoms amongst parents of children with IDD included disability severity (n = 8, 78%) and lower household income (n = 4, 80%). Approximately one third (31%) of parents of children with IDD reach the clinical cut-off score for moderate depression, compared with 7% of parents of children without IDD. 31% of parents of children with IDD reach the cut-off score for moderate anxiety, compared with 14% of parents of children without IDD. The meta-analyses demonstrated moderate effect sizes for elevated depression amongst parents of children with autism and cerebral palsy.
CONCLUSIONS
Results indicate elevated levels of depressive symptoms amongst parents of children with IDD. Quality concerns amongst the existing literature support the need for further research, especially in low- and middle-income countries.
Topics: Adult; Anxiety; Autistic Disorder; Caregivers; Cerebral Palsy; Child; Developmental Disabilities; Female; Humans; Intellectual Disability; Male; Parents; Sample Size
PubMed: 31361768
DOI: 10.1371/journal.pone.0219888 -
Special Care in Dentistry : Official... 2010A systematic review of original studies was conducted to determine if differences in oral health exist between adults who have intellectual disabilities (ID) and the... (Review)
Review
A systematic review of original studies was conducted to determine if differences in oral health exist between adults who have intellectual disabilities (ID) and the general population. Electronic searching identified 27 studies that met the inclusion criteria. These studies were assessed for strength of evidence. People with ID have poorer oral hygiene and higher prevalence and greater severity of periodontal disease. Caries rates in people with ID are the same as or lower than the general population. However, the rates of untreated caries are consistently higher in people with ID. Two subgroups at especially high risk for oral health problems are people with Down syndrome and people unable to cooperate for routine dental care. Evidence supports the need to develop strategies to increase patient acceptance for routine care, additional training for dentists to provide this care, and the development of more effective preventive strategies to minimize the need for this care.
Topics: Adult; Dental Care for Disabled; Dental Caries; Down Syndrome; Humans; Intellectual Disability; Oral Health; Oral Hygiene; Periodontal Diseases; Persons with Mental Disabilities
PubMed: 20500706
DOI: 10.1111/j.1754-4505.2010.00136.x -
Clinical Psychology Review Aug 2022Mental imagery is recognised for its role in both psychological distress and wellbeing, with mental imagery techniques increasingly being incorporated into psychological... (Review)
Review
Mental imagery is recognised for its role in both psychological distress and wellbeing, with mental imagery techniques increasingly being incorporated into psychological interventions. In this systematic review and narrative synthesis (PROSPERO 2021: CRD42021240930), we identify and evaluate the evidence base for the phenomenon and phenomenology of mental imagery in people with intellectual disabilities, to ascertain the applicability of such interventions for this population. Electronic searches of nine databases and grey literature identified relevant publications. Two reviewers independently assessed titles and abstracts of retrieved records (n = 8609) and full-text articles (n = 101) against eligibility criteria. Data were extracted and quality appraised. Forty-onepapers met our eligibility criteria. The quality and designs were variable. Mental imagery was facilitated through ensuring participants understood tasks, providing opportunity to rehearse tasks (including using concrete prompts) and using scaffolding to help participants elaborate their responses. People with intellectual disabilities can engage with mental imagery, with appropriate adaptations, although the associated phenomenology has not been thoroughly investigated. Mental imagery interventions may be useful for people with intellectual disabilities with appropriate modifications.
Topics: Humans; Intellectual Disability
PubMed: 35738164
DOI: 10.1016/j.cpr.2022.102178 -
Journal of Physical Activity & Health Dec 2019The physical and psychosocial benefits of physical activity for typically developing youth are well established; however, its impact on youth with intellectual... (Meta-Analysis)
Meta-Analysis
BACKGROUND
The physical and psychosocial benefits of physical activity for typically developing youth are well established; however, its impact on youth with intellectual disabilities is not as well understood. The aims of this review and meta-analysis were to synthesize the literature and quantify the effects of physical activity on the physical and psychosocial health of youth with intellectual disabilities.
METHOD
Studies meeting the inclusion criteria were grouped by their focus on physical health and/or psychosocial health outcomes. Meta-analyses were performed using 3-level, random effects and mixed effects models.
RESULTS
One hundred nine studies met the inclusion criteria. Physical activity had a large effect on physical health (g = 0.773, P < .001) and a moderately large effect (g = 0.682, P < .001) on psychosocial health. Participant age, intellectual disability level, other developmental disabilities, outcome type, and intervention type moderated the effects of physical activity on physical health, whereas study design, risk of bias, other developmental disabilities, outcome type, and intervention type were moderators on psychosocial health.
CONCLUSIONS
Physical activity has positive effects on the physical and psychosocial health of youth with intellectual disabilities. Although resistance training shows the most physical benefits, teaching movement and sports skills appear to benefit their physical and psychosocial health.
Topics: Adolescent; Cardiorespiratory Fitness; Chronic Disease; Exercise; Female; Humans; Intellectual Disability; Male; Quality of Life; Resistance Training; Sports
PubMed: 31586434
DOI: 10.1123/jpah.2018-0675