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Healthcare (Basel, Switzerland) Jan 2024Down syndrome (DS) is the most common genetic alteration in humans, resulting from the trisomy of chromosome 21. Individuals with DS are characterized by physical traits... (Review)
Review
Down syndrome (DS) is the most common genetic alteration in humans, resulting from the trisomy of chromosome 21. Individuals with DS are characterized by physical traits and limitations related to intellectual functioning and the development of motor skills. People with DS tend to have lower levels of physical activity (PA) than the general population, despite its benefits for health and quality of life, which could be caused by barriers such as the lack of adapted programs or knowledge on how to adapt them. Therefore, this systematic review aimed to examine the impact of physical activity or sports programs on autonomy and quality of life in individuals with DS. Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines were followed to search four databases (Scopus, Web of Science, PubMed, and SportDiscus), adhering to the population, intervention, comparison, and outcome strategy. A total of 13 studies were selected that followed different training programs (combined training, adapted football, technology-based, pulmonary training, gymnastics and dance, water-based, and whole body vibration). Most of the interventions provided benefits for autonomy or quality of life (physical, psychological, cognitive, emotional, and social) in people with DS. In conclusion, the benefits of physical activity and sports programs adapted to people with DS are positive.
PubMed: 38255069
DOI: 10.3390/healthcare12020181 -
Indian Journal of Psychiatry Nov 2023After the National Mental Health Survey in 2016, multiple individual studies showed inconsistencies in the prevalence rates of psychiatric disorders in India. We... (Review)
Review
BACKGROUND
After the National Mental Health Survey in 2016, multiple individual studies showed inconsistencies in the prevalence rates of psychiatric disorders in India. We performed a meta-analysis to estimate an up-to-date pooled estimate of the prevalence of depression, alcohol use disorder (AUD), anxiety disorder (AD), intellectual disability, suicidal attempt/death, autism, and bipolar disorder (BD) in India.
MATERIALS AND METHODS
We performed a systematic bibliographic search in Pub Med, Global Health Data Exchange (GHDx), and Google Scholar, along with a manual search for peer-reviewed epidemiological studies reporting the prevalence of depression, AUD, AD, MR, suicidal attempt/death, autism, and BD in India from January 1980 till March 2022. Adopting a random-effects model, we performed the meta-analysis using "MetaXL" software.
RESULTS
A total of 79 studies were included: depression ( = 28), AUD ( = 14), AD ( = 12), intellectual disability ( = 8), suicidal attempt/death ( = 7), autism ( = 6) and BD ( = 4). The pooled prevalence of depression and AUD was 12.4% (95% CI 9.4-15.9) ( < 0.001, I = 100%) and 21.5% (95% CI 14.1-30.0) ( < 0.001, I = 100%), respectively. AD, intellectual disability and suicidal attempt/death showed a prevalence of 11.6% (95% CI 8.1-15.7) ( < 0.001, I = 99%), 1% (95% CI 0.5-1.6) ( < 0.001, I = 98%) and 0.5% (95% CI 0.3-0.8) ( < 0.001, I = 100%), respectively. The meta-analysis in autism and BD showed pooled prevalence of 0.3% (95% CI 0.1-0.6) ( < 0.001, I = 96%) and 0.3% (95% CI 0.2-0.4) ( < 0.001, I = 78%), respectively. Subgroup analysis showed an increased prevalence of AD in the urban [24.3% (95% CI 3.7-52.9)] and younger [16.7% (95% CI 5.1-32.7)] population. The prevalence of depression and AD increased during the last two decades on decadal prevalence analysis.
DISCUSSION
The findings could be used for appropriate policy measures and guiding subsequent national mental health surveys.
PubMed: 38249146
DOI: 10.4103/indianjpsychiatry.indianjpsychiatry_539_22 -
Genetics in Medicine : Official Journal... Apr 2024Rare genetic neurodevelopmental disorders associated with intellectual disability require lifelong multidisciplinary care. Clinical practice guidelines may support... (Review)
Review
PURPOSE
Rare genetic neurodevelopmental disorders associated with intellectual disability require lifelong multidisciplinary care. Clinical practice guidelines may support healthcare professionals in their daily practice, but guideline development for rare conditions can be challenging. In this systematic review, the characteristics and methodological quality of internationally published recommendations for this population are described to provide an overview of current guidelines and inform future efforts of European Reference Network ITHACA (Intellectual disability, TeleHealth, Autism, and Congenital Anomalies).
METHODS
MEDLINE, Embase, and Orphanet were systematically searched to identify guidelines for conditions classified as "rare genetic intellectual disability" (ORPHA:183757). Methodological quality was assessed using the Appraisal of Guidelines, Research, and Evaluation II tool.
RESULTS
Seventy internationally published guidelines, addressing the diagnosis and/or management of 28 conditions, were included. The methodological rigor of development was highly variable with limited reporting of literature searches and consensus methods. Stakeholder involvement and editorial independence varied as well. Implementation was rarely addressed.
CONCLUSION
Comprehensive, high-quality guidelines are lacking for many rare genetic neurodevelopmental disorders. Use and transparent reporting of sound development methodologies, active involvement of affected individuals and families, robust conflict of interest procedures, and attention to implementation are vital for enhancing the impact of clinical practice recommendations.
Topics: Humans; Intellectual Disability; Quality Improvement; Evidence-Based Medicine; Neurodevelopmental Disorders; Consensus
PubMed: 38224026
DOI: 10.1016/j.gim.2024.101071 -
Journal of Pain Research 2024Adult degenerative scoliosis (ADS) research lacks bibliometric analysis, despite numerous studies. This study aimed to systematically analyze the development, current... (Review)
Review
PURPOSE
Adult degenerative scoliosis (ADS) research lacks bibliometric analysis, despite numerous studies. This study aimed to systematically analyze the development, current status, hot topics, frontier areas, and trends in ADS research.
PATIENTS AND METHODS
A systematic literature review was conducted in the Web of Science Core Collection database from January 1998 to June 2023. Information regarding the country, institution, author, journal, and keywords was collected for each article. Bibliometric analysis was performed using VOSviewer and Citespace software.
RESULTS
The final analysis covered 1695 publications, demonstrating a steady increase in ADS research. The United States was the most prolific and influential country with 684 publications, followed by China and Japan. The University of California System was the most productive institution with 113 publications. Shaffrey, CI (47 publications) and Lenke, LG (41 publications) were top authors. The analysis revealed seven main research clusters: "intervertebral disc", "adult spinal deformity", "lumbar fusion", "minimally invasive surgery", "navigation", "postoperative complications", and "mental retardation". Keywords with strong bursts of activity included degeneration, prevalence, imbalance, classification, lumbar spinal stenosis, and kyphosis.
CONCLUSION
In conclusion, in recent years, ADS research has undergone rapid development. This study analyzed its hot topics, advancements, and research directions, making it the latest bibliometric analysis in this field. The findings aim to provide a new perspective and guidance for clinical practitioners and researchers.
PubMed: 38204581
DOI: 10.2147/JPR.S437575 -
Trauma, Violence & Abuse Jul 2024Young people with special educational needs (SEN), such as intellectual disability and/or autism, are particularly vulnerable to child sexual exploitation and abuse... (Review)
Review
Young people with special educational needs (SEN), such as intellectual disability and/or autism, are particularly vulnerable to child sexual exploitation and abuse (CSEA). This mixed-methods systematic literature review consolidates findings in respect to how young people with SEN are currently being taught about CSEA in the UK, incorporating empirical and practice-based findings to counteract publication bias. Key databases were searched, and relevant organizations were contacted regarding studies published between 2015 and 2022 (inclusive). Thirteen articles met the inclusion criteria. Of these, 10 adopted a qualitative methodology, and three a mixed-methods approach. The thematic synthesis of the qualitative studies identified the following themes: (a) beliefs and stereotypes about CSEA, vulnerability. and risk have led to young people with SEN being misinformed and misunderstood, and (b) anxiety about the topic of sex and abuse creates polarized views regarding CSEA education in adult guardians of young people with SEN. Themes are discussed in the context of societal biases in respect to vulnerability and risk, and these biases are considered to have a negative effect on how young people with SEN are supported. The findings of this review encourage providers of CSEA awareness education to be mindful of not endorsing harmful stereotypes, and to involve parent-carers as much as possible. This review additionally encourages services and organizations to increase focus on practitioner reflexivity and regular training to counteract potential biases in respect to gender, vulnerability, and risk.
Topics: Humans; Child Abuse, Sexual; Child; Adolescent; Education, Special; Male; Female; Empowerment; Intellectual Disability; Young Adult; Qualitative Research
PubMed: 38164801
DOI: 10.1177/15248380231217047 -
Journal of Intellectual Disabilities :... Dec 2023The way intellectual disability research is designed warrants critical examination, as the knowledge produced through these approaches informs evidence-based practices.... (Review)
Review
BACKGROUND
The way intellectual disability research is designed warrants critical examination, as the knowledge produced through these approaches informs evidence-based practices. People with lived experience should be considered experts in relation to understanding their bodies, conditions, and treatment.
METHOD
This systematic review analyses the design of Delphi studies, to determine the extent to which people with intellectual disability are involved as experts. The design of Delphi studies (involving structured feedback from experts) provides an insight into the extent that 'lived experience' is valued as a source of expert knowledge.
RESULTS
Fifty-five publications reporting on forty-nine separate Delphi studies met our inclusion criteria. Nine publications report the involvement of people with intellectual disability. However, family/informal caregivers are represented as experts in higher numbers and their voices carry greater weight.
CONCLUSION
The findings of this review include guidance for practitioners and researchers to facilitate greater participatory roles of people with intellectual disability.
PubMed: 38150570
DOI: 10.1177/17446295231225272 -
Seizure Jan 2024Epilepsy is one of the most frequent neurological comorbidities in patients with Down Syndrome (DS). Young patients and adults are the most affected, the latter mostly... (Review)
Review
INTRODUCTION
Epilepsy is one of the most frequent neurological comorbidities in patients with Down Syndrome (DS). Young patients and adults are the most affected, the latter mostly showing a phenotype labeled as "Late-onset myoclonic epilepsy" (LOMEDS). Status epilepticus (SE) is a life-threatening complication in patients with epilepsy. In this study, we described a non-convulsive SE (NCSE) case in a patient diagnosed with LOMEDS. We also performed a systematic review of the literature on SE diagnosis and treatment in patients with Down Syndrome.
METHODS
Clinical and demographic characteristics of a DS patient diagnosed with NCSE were described. The systematic literature search dissected the diagnostic and therapeutic management of SE in patients with DS. The following databases were used: PubMed, EMBASE, and Google Scholar.
RESULTS
5 DS individuals (4 from the past literature + 1 novel case report) with SE have been identified. The median age at SE onset was 42 years (IQR: 21-60.5 years). The most common SE type was myoclonic SE (MSE), followed by NCSE. Two cases of acute symptomatic etiology were described, whereas a progressive symptomatic etiology was otherwise reported. Ictal EEG recording information was available in two patients who showed generalized spike waves and polyspike and wave discharges. In 3 cases, SE was treated with intravenous antiseizure medications that produced a complete resolution.
CONCLUSION
SE may represent a rare complication in patients with DS. Although no definitive conclusions may be achieved due to the lack of evidence, treatment with valproic acid seems effective, especially in MSE. NCSE management is more challenging. It requires low doses of anesthetics, which should be used cautiously due to the high rate of complications.
Topics: Adult; Humans; Middle Aged; Young Adult; Down Syndrome; Electroencephalography; Epilepsy; Status Epilepticus; Valproic Acid
PubMed: 38101201
DOI: 10.1016/j.seizure.2023.11.009 -
PloS One 2023Children with neurodevelopmental disorders such as attention-deficit hyperactivity disorder (ADHD), autism, developmental language disorder (DLD), intellectual... (Meta-Analysis)
Meta-Analysis
RATIONALE
Children with neurodevelopmental disorders such as attention-deficit hyperactivity disorder (ADHD), autism, developmental language disorder (DLD), intellectual disability (ID), and social (pragmatic) communication disorder (SPCD) experience difficulties with social functioning due to differences in their social, emotional and cognitive skills. Previous systematic reviews have focussed on specific aspects of social functioning rather than broader peer functioning and friendships.
OBJECTIVE
To systematically review and methodologically appraise the quality and effectiveness of existing intervention studies that measured friendship outcomes for children with ADHD, autism, DLD, ID, and SPCD.
METHOD
Following PRISMA guidelines, we searched five electronic databases: CINAHL, Embase, Eric, PsycINFO, and PubMed. Two independent researchers screened all abstracts and disagreements were discussed with a third researcher to reach consensus. The methodological quality of studies was assessed using the Cochrane Risk of Bias Tool for Randomised Trials.
RESULTS
Twelve studies involving 15 interventions were included. Studies included 683 children with a neurodevelopmental disorder and 190 typically-developing children and diagnosed with either autism or ADHD. Within-group meta-analysis showed that the pooled intervention effects for friendship across all interventions were small to moderate (z = 2.761, p = 0.006, g = 0.485). The pooled intervention effect between intervention and comparison groups was not significant (z = 1.206, p = 0.400, g = 0.215).
CONCLUSION
Findings provide evidence that some individual interventions are effective in improving social functioning and fostering more meaningful friendships between children with neurodevelopmental disorders and their peers. Effective interventions involved educators, targeted child characteristics known to moderate peer functioning, actively involved peers, and incorporated techniques to facilitate positive peer perceptions and strategies to support peers. Future research should evaluate the effectiveness of friendship interventions for children with DLD, ID and SPCD, more comprehensively assess peer functioning, include child self-report measures of friendship, and longitudinally evaluate downstream effects on friendship.
Topics: Child; Humans; Friends; Attention Deficit Disorder with Hyperactivity; Peer Group; Social Adjustment; Neurodevelopmental Disorders
PubMed: 38096327
DOI: 10.1371/journal.pone.0295917 -
Scientific Reports Dec 2023Therapeutic exercise exerts positive effects by mitigating or reducing the motor or cognitive changes that people with Down syndrome undergo throughout their life. There... (Meta-Analysis)
Meta-Analysis
Therapeutic exercise exerts positive effects by mitigating or reducing the motor or cognitive changes that people with Down syndrome undergo throughout their life. There are no updated systematic reviews that integrate the evidence available in a way that facilitates decision-making for physical rehabilitation teams. This study therefore aimed to consolidate the information available and compare the effects of different types of physical exercise on the motor function of adults with DS. We conducted a systematic review and meta-analysis of randomized clinical trials and quasi-experimental studies. The literature search was performed between January 2023 and February 2023 using the PubMed, SCIELO, Epistemonikos, and Lilacs databases. Studies were selected according to pre-determined inclusion and exclusion criteria. The risk-of-bias assessment was performed using the risk-of-bias rating tool for randomized clinical trial (RoB) and the risk of bias of non-randomized comparative studies was assessed using the risk of bias in non-randomized studies of interventions (ROBINS-I) tool. Risk-of-bias assessment and meta-analyses were performed using the RevMan software package. Sixteen studies met the eligibility criteria for the qualitative synthesis and 4 were included in the meta-analyses. Combined exercise significantly increased muscle strength both in the upper limbs (SMD = 0.74 [95% CI 0.25-1.22]) and lower limbs (SMD = 0.56[95% CI 0.08-1.04]). Aerobic exercise improved spatiotemporal gait parameters. Aerobic exercise showed significant improvements in dynamic balance while combined exercise significantly increased dynamic and static balance. The certainty of the evidence was low to moderate for all outcomes. There was low and moderate certainty of evidence for the outcomes proposed in this review. However, therapeutic exercise could be effective in improving muscle strength and gait functionality.
Topics: Adult; Humans; Down Syndrome; Exercise; Exercise Therapy; Randomized Controlled Trials as Topic
PubMed: 38081839
DOI: 10.1038/s41598-023-48179-1 -
BMJ Quality & Safety Apr 2024To identify factors acting as barriers or enablers to the process of healthcare consent for people with intellectual disability and to understand how to make this...
OBJECTIVE
To identify factors acting as barriers or enablers to the process of healthcare consent for people with intellectual disability and to understand how to make this process equitable and accessible.
DATA SOURCES
Databases: Embase, MEDLINE, PsychINFO, PubMed, SCOPUS, Web of Science and CINAHL. Additional articles were obtained from an ancestral search and hand-searching three journals.
ELIGIBILITY CRITERIA
Peer-reviewed original research about the consent process for healthcare interventions, published after 1990, involving adult participants with intellectual disability.
SYNTHESIS OF RESULTS
Inductive thematic analysis was used to identify factors affecting informed consent. The findings were reviewed by co-researchers with intellectual disability to ensure they reflected lived experiences, and an easy read summary was created.
RESULTS
Twenty-three studies were included (1999 to 2020), with a mix of qualitative (n=14), quantitative (n=6) and mixed-methods (n=3) studies. Participant numbers ranged from 9 to 604 people (median 21) and included people with intellectual disability, health professionals, carers and support people, and others working with people with intellectual disability. Six themes were identified: (1) health professionals' attitudes and lack of education, (2) inadequate accessible health information, (3) involvement of support people, (4) systemic constraints, (5) person-centred informed consent and (6) effective communication between health professionals and patients. Themes were barriers (themes 1, 2 and 4), enablers (themes 5 and 6) or both (theme 3).
CONCLUSIONS
Multiple reasons contribute to poor consent practices for people with intellectual disability in current health systems. Recommendations include addressing health professionals' attitudes and lack of education in informed consent with clinician training, the co-production of accessible information resources and further inclusive research into informed consent for people with intellectual disability.
PROSPERO REGISTRATION
CRD42021290548.
Topics: Humans; Intellectual Disability; Informed Consent; Attitude of Health Personnel
PubMed: 38071590
DOI: 10.1136/bmjqs-2023-016113