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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 -
The Cochrane Database of Systematic... May 2019Periodontal (gum) disease and dental caries (tooth decay) are the most common causes of tooth loss; dental plaque plays a major role in the development of these...
BACKGROUND
Periodontal (gum) disease and dental caries (tooth decay) are the most common causes of tooth loss; dental plaque plays a major role in the development of these diseases. Effective oral hygiene involves removing dental plaque, for example, by regular toothbrushing. People with intellectual disabilities (ID) can have poor oral hygiene and oral health outcomes.
OBJECTIVES
To assess the effects (benefits and harms) of oral hygiene interventions, specifically the mechanical removal of plaque, for people with intellectual disabilities (ID).
SEARCH METHODS
Cochrane Oral Health's Information Specialist searched the following databases to 4 February 2019: Cochrane Oral Health's Trials Register, the Cochrane Central Register of Controlled Trials (CENTRAL; Cochrane Register of Studies), MEDLINE Ovid, Embase Ovid and PsycINFO Ovid. ClinicalTrials.gov and the World Health Organization International Clinical Trials Registry Platform were searched for ongoing trials. The Embase search was restricted by date due to the Cochrane Centralised Search Project, which makes available clinical trials indexed in Embase through CENTRAL. We handsearched specialist conference abstracts from the International Association of Disability and Oral Health (2006 to 2016).
SELECTION CRITERIA
We included randomised controlled trials (RCTs) and some types of non-randomised studies (NRS) (non-RCTs, controlled before-after studies, interrupted time series studies and repeated measures studies) that evaluated oral hygiene interventions targeted at people with ID or their carers, or both. We used the definition of ID in the International Statistical Classification of Diseases and Related Health Problems, 10th revision (ICD-10). We defined oral hygiene as the mechanical removal of plaque. We excluded studies that evaluated chemical removal of plaque, or mechanical and chemical removal of plaque combined.
DATA COLLECTION AND ANALYSIS
At least two review authors independently screened search records, identified relevant studies, extracted data, assessed risk of bias and judged the certainty of the evidence according to GRADE criteria. We contacted study authors for additional information if required. We reported RCTs and NRSs separately.
MAIN RESULTS
We included 19 RCTs and 15 NRSs involving 1795 adults and children with ID and 354 carers. Interventions evaluated were: special manual toothbrushes, electric toothbrushes, oral hygiene training, scheduled dental visits plus supervised toothbrushing, discussion of clinical photographs showing plaque, varied frequency of toothbrushing, plaque-disclosing agents and individualised care plans. We categorised results as short (six weeks or less), medium (between six weeks and 12 months) and long term (more than 12 months).Most studies were small; all were at overall high or unclear risk of bias. None of the studies reported quality of life or dental caries. We present below the evidence available from RCTs (or NRS if the comparison had no RCTs) for gingival health (inflammation and plaque) and adverse effects, as well as knowledge and behaviour outcomes for the training studies.Very low-certainty evidence suggested a special manual toothbrush (the Superbrush) reduced gingival inflammation (GI), and possibly plaque, more than a conventional toothbrush in the medium term (GI: mean difference (MD) -12.40, 95% CI -24.31 to -0.49; plaque: MD -0.44, 95% CI -0.93 to 0.05; 1 RCT, 18 participants); brushing was carried out by the carers. In the short term, neither toothbrush showed superiority (GI: MD -0.10, 95% CI -0.77 to 0.57; plaque: MD 0.20, 95% CI -0.45 to 0.85; 1 RCT, 25 participants; low- to very low-certainty evidence).Moderate- and low-certainty evidence found no difference between electric and manual toothbrushes for reducing GI or plaque, respectively, in the medium term (GI: MD 0.02, 95% CI -0.06 to 0.09; plaque: standardised mean difference 0.29, 95% CI -0.07 to 0.65; 2 RCTs, 120 participants). Short-term findings were inconsistent (4 RCTs; low- to very low-certainty evidence).Low-certainty evidence suggested training carers in oral hygiene care had no detectable effect on levels of GI or plaque in the medium term (GI: MD -0.09, 95% CI -0.63 to 0.45; plaque: MD -0.07, 95% CI -0.26 to 0.13; 2 RCTs, 99 participants). Low-certainty evidence suggested oral hygiene knowledge of carers was better in the medium term after training (MD 0.69, 95% CI 0.31 to 1.06; 2 RCTs, 189 participants); this was not found in the short term, and results for changes in behaviour, attitude and self-efficacy were mixed.One RCT (10 participants) found that training people with ID in oral hygiene care reduced plaque but not GI in the short term (GI: MD -0.28, 95% CI -0.90 to 0.34; plaque: MD -0.47, 95% CI -0.92 to -0.02; very low-certainty evidence).One RCT (304 participants) found that scheduled dental recall visits (at 1-, 3- or 6-month intervals) plus supervised daily toothbrushing were more likely than usual care to reduce GI (pocketing but not bleeding) and plaque in the long term (low-certainty evidence).One RCT (29 participants) found that motivating people with ID about oral hygiene by discussing photographs of their teeth with plaque highlighted by a plaque-disclosing agent, did not reduce plaque in the medium term (very low-certainty evidence).One RCT (80 participants) found daily toothbrushing by dental students was more effective for reducing plaque in people with ID than once- or twice-weekly toothbrushing in the short term (low-certainty evidence).A benefit to gingival health was found by one NRS that evaluated toothpaste with a plaque-disclosing agent and one that evaluated individualised oral care plans (very low-certainty evidence).Most studies did not report adverse effects; of those that did, only one study considered them as a formal outcome. Some studies reported participant difficulties using the electric or special manual toothbrushes.
AUTHORS' CONCLUSIONS
Although some oral hygiene interventions for people with ID show benefits, the clinical importance of these benefits is unclear. The evidence is mainly low or very low certainty. Moderate-certainty evidence was available for only one finding: electric and manual toothbrushes were similarly effective for reducing gingival inflammation in people with ID in the medium term. Larger, higher-quality RCTs are recommended to endorse or refute the findings of this review. In the meantime, oral hygiene care and advice should be based on professional expertise and the needs and preferences of the individual with ID and their carers.
Topics: Dental Plaque; Humans; Intellectual Disability; Oral Health; Oral Hygiene; Periodontal Diseases; Toothbrushing
PubMed: 31149734
DOI: 10.1002/14651858.CD012628.pub2 -
Genetics in Medicine : Official Journal... Nov 2019For neurodevelopmental disorders (NDDs), etiological evaluation can be a diagnostic odyssey involving numerous genetic tests, underscoring the need to develop a... (Meta-Analysis)
Meta-Analysis
PURPOSE
For neurodevelopmental disorders (NDDs), etiological evaluation can be a diagnostic odyssey involving numerous genetic tests, underscoring the need to develop a streamlined algorithm maximizing molecular diagnostic yield for this clinical indication. Our objective was to compare the yield of exome sequencing (ES) with that of chromosomal microarray (CMA), the current first-tier test for NDDs.
METHODS
We performed a PubMed scoping review and meta-analysis investigating the diagnostic yield of ES for NDDs as the basis of a consensus development conference. We defined NDD as global developmental delay, intellectual disability, and/or autism spectrum disorder. The consensus development conference included input from genetics professionals, pediatric neurologists, and developmental behavioral pediatricians.
RESULTS
After applying strict inclusion/exclusion criteria, we identified 30 articles with data on molecular diagnostic yield in individuals with isolated NDD, or NDD plus associated conditions (such as Rett-like features). Yield of ES was 36% overall, 31% for isolated NDD, and 53% for the NDD plus associated conditions. ES yield for NDDs is markedly greater than previous studies of CMA (15-20%).
CONCLUSION
Our review demonstrates that ES consistently outperforms CMA for evaluation of unexplained NDDs. We propose a diagnostic algorithm placing ES at the beginning of the evaluation of unexplained NDDs.
Topics: Autism Spectrum Disorder; Developmental Disabilities; Diagnostic Tests, Routine; Exome; Genetic Testing; Humans; Intellectual Disability; Neurodevelopmental Disorders; Exome Sequencing
PubMed: 31182824
DOI: 10.1038/s41436-019-0554-6 -
The Cochrane Database of Systematic... Jan 2021Many people with chronic disease have more than one chronic condition, which is referred to as multimorbidity. The term comorbidity is also used but this is now taken to... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Many people with chronic disease have more than one chronic condition, which is referred to as multimorbidity. The term comorbidity is also used but this is now taken to mean that there is a defined index condition with other linked conditions, for example diabetes and cardiovascular disease. It is also used when there are combinations of defined conditions that commonly co-exist, for example diabetes and depression. While this is not a new phenomenon, there is greater recognition of its impact and the importance of improving outcomes for individuals affected. Research in the area to date has focused mainly on descriptive epidemiology and impact assessment. There has been limited exploration of the effectiveness of interventions to improve outcomes for people with multimorbidity.
OBJECTIVES
To determine the effectiveness of health-service or patient-oriented interventions designed to improve outcomes in people with multimorbidity in primary care and community settings. Multimorbidity was defined as two or more chronic conditions in the same individual.
SEARCH METHODS
We searched MEDLINE, EMBASE, CINAHL and seven other databases to 28 September 2015. We also searched grey literature and consulted experts in the field for completed or ongoing studies.
SELECTION CRITERIA
Two review authors independently screened and selected studies for inclusion. We considered randomised controlled trials (RCTs), non-randomised clinical trials (NRCTs), controlled before-after studies (CBAs), and interrupted time series analyses (ITS) evaluating interventions to improve outcomes for people with multimorbidity in primary care and community settings. Multimorbidity was defined as two or more chronic conditions in the same individual. This includes studies where participants can have combinations of any condition or have combinations of pre-specified common conditions (comorbidity), for example, hypertension and cardiovascular disease. The comparison was usual care as delivered in that setting.
DATA COLLECTION AND ANALYSIS
Two review authors independently extracted data from the included studies, evaluated study quality, and judged the certainty of the evidence using the GRADE approach. We conducted a meta-analysis of the results where possible and carried out a narrative synthesis for the remainder of the results. We present the results in a 'Summary of findings' table and tabular format to show effect sizes across all outcome types.
MAIN RESULTS
We identified 17 RCTs examining a range of complex interventions for people with multimorbidity. Nine studies focused on defined comorbid conditions with an emphasis on depression, diabetes and cardiovascular disease. The remaining studies focused on multimorbidity, generally in older people. In 11 studies, the predominant intervention element was a change to the organisation of care delivery, usually through case management or enhanced multidisciplinary team work. In six studies, the interventions were predominantly patient-oriented, for example, educational or self-management support-type interventions delivered directly to participants. Overall our confidence in the results regarding the effectiveness of interventions ranged from low to high certainty. There was little or no difference in clinical outcomes (based on moderate certainty evidence). Mental health outcomes improved (based on high certainty evidence) and there were modest reductions in mean depression scores for the comorbidity studies that targeted participants with depression (standardized mean difference (SMD) -0.41, 95% confidence interval (CI) -0.63 to -0.2). There was probably a small improvement in patient-reported outcomes (moderate certainty evidence). The intervention may make little or no difference to health service use (low certainty evidence), may slightly improve medication adherence (low certainty evidence), probably slightly improves patient-related health behaviours (moderate certainty evidence), and probably improves provider behaviour in terms of prescribing behaviour and quality of care (moderate certainty evidence). Cost data were limited.
AUTHORS' CONCLUSIONS
This review identifies the emerging evidence to support policy for the management of people with multimorbidity and common comorbidities in primary care and community settings. There are remaining uncertainties about the effectiveness of interventions for people with multimorbidity in general due to the relatively small number of RCTs conducted in this area to date, with mixed findings overall. It is possible that the findings may change with the inclusion of large ongoing well-organised trials in future updates. The results suggest an improvement in health outcomes if interventions can be targeted at risk factors such as depression in people with co-morbidity.
Topics: Age Factors; Amblyopia; Chronic Disease; Community Health Services; Disease Management; Growth Disorders; Health Behavior; Health Personnel; Health Services Needs and Demand; Humans; Intellectual Disability; Medication Adherence; Multimorbidity; Patient Reported Outcome Measures; Patient-Centered Care; Primary Health Care; Randomized Controlled Trials as Topic; Risk Factors; Treatment Outcome
PubMed: 33448337
DOI: 10.1002/14651858.CD006560.pub4 -
The Journal of Clinical Endocrinology... Aug 2023Kenny-Caffey syndrome (KCS) is a rare hereditary disorder characterized by short stature, hypoparathyroidism, and electrolyte disturbances. KCS1 and KCS2 are caused by...
CONTEXT
Kenny-Caffey syndrome (KCS) is a rare hereditary disorder characterized by short stature, hypoparathyroidism, and electrolyte disturbances. KCS1 and KCS2 are caused by pathogenic variants in TBCE and FAM111A, respectively. Clinically the phenotypes are difficult to distinguish.
OBJECTIVE
The objective was to determine and expand the phenotypic spectrum of KCS1 and KCS2 in order to anticipate complications that may arise in these disorders.
METHODS
We clinically and genetically analyzed 10 KCS2 patients from 7 families. Because we found unusual phenotypes in our cohort, we performed a systematic review of genetically confirmed KCS cases using PubMed and Scopus. Evaluation by 3 researchers led to the inclusion of 26 papers for KCS1 and 16 for KCS2, totaling 205 patients. Data were extracted following the Cochrane guidelines and assessed by 2 independent researchers.
RESULTS
Several patients in our KCS2 cohort presented with intellectual disability (3/10) and chronic kidney disease (6/10), which are not considered common findings in KCS2. Systematic review of all reported KCS cases showed that the phenotypes of KCS1 and KCS2 overlap for postnatal growth retardation (KCS1: 52/52, KCS2: 23/23), low parathyroid hormone levels (121/121, 16/20), electrolyte disturbances (139/139, 24/27), dental abnormalities (47/50, 15/16), ocular abnormalities (57/60, 22/23), and seizures/spasms (103/115, 13/16). Symptoms more prevalent in KCS1 included intellectual disability (74/80, 5/24), whereas in KCS2 bone cortical thickening (1/18, 16/20) and medullary stenosis (7/46, 27/28) were more common.
CONCLUSION
Our case series established chronic kidney disease as a new feature of KCS2. In the literature, we found substantial overlap in the phenotypic spectra of KCS1 and KCS2, but identified intellectual disability and the abnormal bone phenotype as the most distinguishing features.
Topics: Humans; Intellectual Disability; Hyperostosis, Cortical, Congenital; Phenotype; Electrolytes; Hypoparathyroidism
PubMed: 36916904
DOI: 10.1210/clinem/dgad147 -
Journal of Applied Research in... Mar 2022This systematic review aimed to explore how adults with autism participate in the community, the impact of community participation on quality of life and mental health,... (Review)
Review
BACKGROUND
This systematic review aimed to explore how adults with autism participate in the community, the impact of community participation on quality of life and mental health, and factors that support and hinder participation.
METHOD
A systematic review was conducted including studies published from inception to 17 January 2021.
RESULTS
Sixty-three reports were included, reporting on 58 studies. Solitary activities, organised group activities, community activities, religious groups and online social participation were identified. The relationship between community participation and quality of life was examined. Barriers and facilitators to increased community participation were identified. Most studies had a moderate to high risk of bias.
CONCLUSION
Adults with autism participate in a range of independent and community activities. The impact of community participation on quality of life and mental health warrants further exploration. Future studies should find effective ways of supporting adults with autism to participate in the community.
Topics: Adult; Autistic Disorder; Community Participation; Humans; Intellectual Disability; Quality of Life; Social Participation
PubMed: 34907624
DOI: 10.1111/jar.12970 -
Molecular Autism Mar 2023Suicidality is highly prevalent in autistic people without co-occurring intellectual disabilities, and high autistic traits are found in adults who have attempted... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Suicidality is highly prevalent in autistic people without co-occurring intellectual disabilities, and high autistic traits are found in adults who have attempted suicide. However, prevalence rates for both autistic and possibly autistic people have not been synthesised meta-analytically.
AIMS
To (1) calculate pooled prevalence estimates of suicidality in autistic people and possibly autistic people without co-occurring intellectual disability; (2) evaluate the influence of participant and study level characteristics on heterogeneity; and (3) determine the quality of evidence.
METHODS
Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines were followed. PsycINFO, Embase, MEDLINE and Web of Science were systematically searched from 1992 to January 25, 2022. Empirical quantitative studies reporting prevalence of suicidal ideation, suicide plans, or suicide attempts and behaviours were considered for inclusion. Random effects models were used to estimate pooled prevalence of each suicidality outcome with 95% confidence intervals. Heterogeneity was explored using sensitivity and moderator analyses.
RESULTS
Data from 48,186 autistic and possibly autistic participants in 36 primary studies were meta-analysed. Pooled prevalence of suicidal ideation was 34.2% (95% CI 27.9-40.5), suicide plans 21.9% (13.4-30.4), and suicidal attempts and behaviours 24.3% (18.9-29.6). High levels of heterogeneity (I > 75) were observed in all three analyses. Estimates did not differ between autistic or possibly autistic samples. Geographical location (p = 0.005), transgender or gender non-conforming samples (p < 0.001) and type of report (p < 0.001) significantly moderated suicidal ideation, whereas age group (p = 0.001) and measure of suicidality (p = 0.001) significantly moderated suicide plans. There was a significant association between the proportion of male participants and prevalence of suicide plans, with a decrease in the proportion of males for every unit change of suicide plan prevalence (p = 0.013). No variables were found to moderate estimates of suicide attempts and behaviours.
CONCLUSIONS
The results confirm suicidality is highly prevalent in both autistic and possibly autistic people without co-occurring intellectual disability and highlights potential moderators. Possibly autistic individuals require more attention in clinical and research considerations going forward to further understand and prevent suicide in both groups.
Topics: Adult; Humans; Male; Suicidal Ideation; Intellectual Disability; Autistic Disorder; Suicide; Suicide, Attempted
PubMed: 36922899
DOI: 10.1186/s13229-023-00544-7 -
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 Oral Rehabilitation Dec 2023Bruxism is a parafunctional activity characterised by grinding or clenching of teeth and is a common oral health concern in individuals with down syndrome (DS).... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Bruxism is a parafunctional activity characterised by grinding or clenching of teeth and is a common oral health concern in individuals with down syndrome (DS). Understanding the prevalence of bruxism in this population is crucial for developing effective management strategies. This systematic review and meta-analysis is aimed to investigate the prevalence of bruxism among individuals with DS and explore its association with other oral health issues.
METHODS
A comprehensive search was conducted across multiple electronic databases to identify relevant studies. Cross-sectional and observational studies were included. Data on bruxism prevalence and associated factors were extracted, and a meta-analysis was performed using both fixed-effects (FE) and random-effects (RE) models of MedCalc software. Heterogeneity among studies was assessed using I statistics. New Castle-Ottawa Scale was used to evaluate methodological quality of the included studies.
RESULTS
Eight studies met the pre-defined inclusion criteria and were included in the analysis. Seven studies used a questionnaire to assess bruxism. The pooled proportion estimate for occurrence of DS across the included studies was found to be 0.33 (95% CI: 0.22-0.45) as per the RE model and 0.35 (95% CI: 0.31-0.450) as per FE model in the quantitative analysis. All studies exhibited good methodological quality.
CONCLUSION
This systematic review and meta-analysis provide evidence of a significant prevalence of bruxism among individuals with DS. The findings highlight the association of bruxism with other oral health issues and specific chromosomal abnormalities. Comprehensive oral health assessments, including diagnostic procedures like Polysomnography, are essential for addressing the unique oral health needs of individuals with DS. Further studies are recommended with a valid tool for the diagnosis. Early interventions and management strategies need to be tailored to this population, considering the multifaceted nature of oral health concerns in individuals with DS.
Topics: Humans; Bruxism; Prevalence; Down Syndrome; Cross-Sectional Studies; Surveys and Questionnaires; Sleep Bruxism
PubMed: 37507203
DOI: 10.1111/joor.13563 -
Human Mutation Sep 2022The Dedicator of Cytokinesis (DOCK) family (DOCK1-11) of genes are essential mediators of cellular migration, growth, and fusion in a variety of cell types and tissues.... (Review)
Review
The Dedicator of Cytokinesis (DOCK) family (DOCK1-11) of genes are essential mediators of cellular migration, growth, and fusion in a variety of cell types and tissues. Recent advances in whole-genome sequencing of patients with undiagnosed genetic disorders have identified several rare pathogenic variants in DOCK genes. We conducted a systematic review and performed a patient database and literature search of reported DOCK pathogenic variants that have been identified in association with clinical pathologies such as global developmental delay, immune cell dysfunction, muscle hypotonia, and muscle ataxia among other categories. We then categorized these pathogenic DOCK variants and their associated clinical phenotypes under several unique categories: developmental, cardiovascular, metabolic, cognitive, or neuromuscular. Our systematic review of DOCK variants aims to identify and analyze potential DOCK-regulated networks associated with neuromuscular diseases and other disease pathologies, which may identify novel therapeutic strategies and targets. This systematic analysis and categorization of human-associated pathologies with DOCK pathogenic variants is the first report to the best of our knowledge for a unique class in this understudied gene family that has important implications in furthering personalized genomic medicine, clinical diagnoses, and improve targeted therapeutic outcomes across many clinical pathologies.
Topics: Ataxia; Genomics; Guanine Nucleotide Exchange Factors; Humans; Intellectual Disability; Multigene Family; Muscle Hypotonia; Transcription Factors
PubMed: 35544951
DOI: 10.1002/humu.24398