-
Neurotherapeutics : the Journal of the... Apr 2024Prader-Willi syndrome (PWS) is a complex, genetic disorder characterized by multisystem involvement, including hyperphagia, maladaptive behaviors and endocrinological... (Review)
Review
Prader-Willi syndrome (PWS) is a complex, genetic disorder characterized by multisystem involvement, including hyperphagia, maladaptive behaviors and endocrinological derangements. Recent developments in advanced neuroimaging have led to a growing understanding of PWS as a neural circuit disorder, as well as subsequent interests in the application of neuromodulatory therapies. Various non-invasive and invasive device-based neuromodulation methods, including vagus nerve stimulation (VNS), transcranial direct current stimulation (tDCS), repetitive transcranial magnetic stimulation (rTMS), and deep brain stimulation (DBS) have all been reported to be potentially promising treatments for addressing the major symptoms of PWS. In this systematic literature review, we summarize the recent literature that investigated these therapies, discuss the underlying circuits which may underpin symptom manifestations, and cover future directions of the field. Through our comprehensive search, there were a total of 47 patients who had undergone device-based neuromodulation therapy for PWS. Two articles described VNS, 4 tDCS, 1 rTMS and 2 DBS, targeting different symptoms of PWS, including aberrant behavior, hyperphagia and weight. Multi-center and multi-country efforts will be required to advance the field given the low prevalence of PWS. Finally, given the potentially vulnerable population, neuroethical considerations and dialogue should guide the field.
Topics: Humans; Prader-Willi Syndrome; Vagus Nerve Stimulation; Transcranial Magnetic Stimulation; Deep Brain Stimulation; Transcranial Direct Current Stimulation
PubMed: 38430811
DOI: 10.1016/j.neurot.2024.e00339 -
Journal of Intellectual Disability... May 2024Adults with intellectual disabilities (IDs) are susceptible to multiple health risk behaviours such as alcohol consumption, smoking, low physical activity, sedentary... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Adults with intellectual disabilities (IDs) are susceptible to multiple health risk behaviours such as alcohol consumption, smoking, low physical activity, sedentary behaviour and poor diet. Lifestyle modification interventions can prevent or reduce negative health consequences caused by these behaviours. We aim to determine the effectiveness of lifestyle modification interventions and their components in targeting health risk behaviours in adults with IDs.
METHODS
A systematic review and meta-analysis were conducted. Electronic databases, clinical trial registries, grey literature and citations of systematic reviews and included studies were searched in January 2021 (updated February 2022). Randomised controlled trials and non-randomised controlled trials targeting alcohol consumption, smoking, low physical activity, sedentary behaviours and poor diet in adults (aged ≥ 18 years) with ID were included. Meta-analysis was conducted at the intervention level (pairwise and network meta-analysis) and the component-level (component network meta-analysis). Studies were coded using Michie's 19-item theory coding scheme and 94-item behaviour change taxonomies. Risk of bias was assessed using the Cochrane Risk of Bias (ROB) Version 2 and Risk of Bias in Non-randomised Studies of Interventions (ROBINS-I). The study involved a patient and public involvement (PPI) group, including people with lived experience, who contributed extensively by shaping the methodology, providing valuable insights in interpreting results and organising of dissemination events.
RESULTS
Our literature search identified 12 180 articles, of which 80 studies with 4805 participants were included in the review. The complexity of lifestyle modification intervention was dismantled by identifying six core components that influenced outcomes. Interventions targeting single or multiple health risk behaviours could have a single or combination of multiple core-components. Interventions (2 RCTS; 4 non-RCTs; 228 participants) targeting alcohol consumption and smoking behaviour were effective but based on limited evidence. Similarly, interventions targeting low physical activity only (16 RCTs; 17 non-RCTs; 1413 participants) or multiple behaviours (low physical activity only, sedentary behaviours and poor diet) (17 RCTs; 24 non-RCTs; 3164 participants) yielded mixed effectiveness in outcomes. Most interventions targeting low physical activity only or multiple behaviours generated positive effects on various outcomes while some interventions led to no change or worsened outcomes, which could be attributed to the presence of a single core-component or a combination of similar core components in interventions. The intervention-level meta-analysis for weight management outcomes showed that none of the interventions were associated with a statistically significant change in outcomes when compared with treatment-as-usual and each other. Interventions with core-components combination of energy deficit diet, aerobic exercise and behaviour change techniques showed the highest weight loss [mean difference (MD) = -3.61, 95% credible interval (CrI) -9.68 to 1.95] and those with core-components combination dietary advice and aerobic exercise showed a weight gain (MD 0.94, 95% CrI -3.93 to 4.91). Similar findings were found with the component network meta-analysis for which additional components were identified. Most studies had a high and moderate risk of bias. Various theories and behaviour change techniques were used in intervention development and adaptation.
CONCLUSION
Our systematic review is the first to comprehensively explore lifestyle modification interventions targeting a range of single and multiple health risk behaviours in adults with ID, co-produced with people with lived experience. It has practical implications for future research as it highlights the importance of mixed-methods research in understanding lifestyle modification interventions and the need for population-specific improvements in the field (e.g., tailored interventions, development of evaluation instruments or tools, use of rigorous research methodologies and comprehensive reporting frameworks). Wide dissemination of related knowledge and the involvement of PPI groups, including people with lived experience, will help future researchers design interventions that consider the unique needs, desires and abilities of people with ID.
Topics: Adult; Humans; Intellectual Disability; Life Style; Diet; Exercise; Behavior Therapy
PubMed: 38414293
DOI: 10.1111/jir.13098 -
American Journal on Intellectual and... Mar 2024Diagnostic overshadowing is a bias in which symptoms of a psychological disorder are falsely attributed to a known diagnosis of intellectual disability. This systematic...
Diagnostic overshadowing is a bias in which symptoms of a psychological disorder are falsely attributed to a known diagnosis of intellectual disability. This systematic review evaluated all research on diagnostic overshadowing conducted to date, including dissertations and peer-reviewed journal articles. In total, 25 studies were included in this review. Findings suggest diagnostic overshadowing may not be as ubiquitous as originally believed, with one third of included studies finding no overshadowing. The quality of the evidence was graded as "Low" using the LEGEND tool, with common issues including outdated studies, analogue methodologies, small sample sizes and convenience samples, and inappropriate conducting or reporting of statistical analyses. Implications for the field and recommendations for future research are discussed.
Topics: Humans; Intellectual Disability; Problem Behavior
PubMed: 38411245
DOI: 10.1352/1944-7558-129.2.116 -
Journal of Intellectual Disability... Jun 2024Down syndrome (DS) is the most prevalent chromosomal disorder, being the leading cause of intellectual disability. The increased life expectancy of individuals with DS... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Down syndrome (DS) is the most prevalent chromosomal disorder, being the leading cause of intellectual disability. The increased life expectancy of individuals with DS has led to a shift in the incidence of non-communicable chronic diseases, resulting in new concerns, particularly cardiovascular disease (CVD) and Alzheimer's disease. This study aimed to analyse the blood lipid profile of a large DS cohort to establish a baseline for evaluating health risk parameters.
METHODS
A comprehensive literature search was conducted on PubMed and Virtual Health Library databases to identify original articles published before July 2022. Selected studies were included in the meta-analysis.
RESULTS
Fifteen studies reporting serum lipid levels in individuals with DS were incorporated into the analysis. The meta-analysis used the means and standard deviations extracted from the selected studies. The analysis encompassed 671 participants in the DS group and 898 euploid controls. The results indicated significant differences in total cholesterol [C] (mean difference [MD]: -3.34; CI: 95%: -4.94 to -1.73; P < 0.0001), HDL-C (MD: -3.39; CI: 95%: -6.72 to -0.06; P = 0.05) and triglycerides (MD: 21.48; CI: 95%: 9.32 to 33.65; P = 0.0005) levels between individuals with DS and their control counterparts.
CONCLUSIONS
Individuals with DS have less favourable blood lipid concentrations than their controls, particularly HDL-C, triglycerides, and total-C, even when grouped by age. These findings underscore the importance of closer monitoring of lipid profiles in people with DS and the necessity for specific cut-offs for this population, considering the risk for ischemic heart and Alzheimer's diseases.
Topics: Humans; Down Syndrome; Lipids; Adult; Triglycerides; Cholesterol; Young Adult; Adolescent
PubMed: 38404114
DOI: 10.1111/jir.13128 -
Expert Opinion on Pharmacotherapy Feb 2024Fragile X syndrome (FXS) is the most common inherited cause of Intellectual Disability. There is a broad phenotype that includes deficits in cognition and behavioral...
INTRODUCTION
Fragile X syndrome (FXS) is the most common inherited cause of Intellectual Disability. There is a broad phenotype that includes deficits in cognition and behavioral changes, alongside physical characteristics. Phenotype depends upon the level of mutation in the (fragile X messenger ribonucleoprotein 1) gene. The molecular understanding of the impact of the gene mutation provides an opportunity to target treatment not only at symptoms but also on a molecular level.
METHODS
We conducted a systematic review to provide an up-to-date narrative summary of the current evidence for pharmacological treatment in FXS. The review was restricted to randomized, blinded, placebo-controlled trials.
RESULTS
The outcomes from these studies are discussed and the level of evidence assessed against validated criteria. The initial search identified 2377 articles, of which 16 were included in the final analysis.
CONCLUSION
Based on this review to date there is limited data to support any specific pharmacological treatments, although the data for cannabinoids are encouraging in those with FXS and in future developments in gene therapy may provide the answer to the search for precision medicine. Treatment must be person-centered and consider the combination of medical, genetic, cognitive, and emotional challenges.
Topics: Humans; Cannabinoids; Fragile X Mental Retardation Protein; Fragile X Syndrome; Genetic Therapy; Mutation; Phenotype; Precision Medicine; Randomized Controlled Trials as Topic
PubMed: 38393835
DOI: 10.1080/14656566.2024.2323605 -
BMC Primary Care Feb 2024Foetal alcohol spectrum disorder (FASD) is the leading preventable cause of nongenetic mental disability. Given the patient care pathway, the General Practitioner (GP)... (Review)
Review
BACKGROUND
Foetal alcohol spectrum disorder (FASD) is the leading preventable cause of nongenetic mental disability. Given the patient care pathway, the General Practitioner (GP) is in the front line of prevention and identification of FASD. Acknowledging the importance of the prevalence of FASD, general practitioners are in the front line both for the detection and diagnosis of FASD and for the message of prevention to women of childbearing age as well as for the follow-up.
OBJECTIVES
The main objective of the scoping review was to propose a reference for interventions that can be implemented by a GP with women of childbearing age, their partners and patients with FASD. The final aim of this review is to contribute to the improvement of knowledge and quality of care of patients with FASD.
METHODS
A scoping review was performed using databases of peer-reviewed articles following PRISMA guidelines. The search strategy was based on the selection and consultation of articles on five digital resources. The advanced search of these publications was established using the keywords for different variations of FASD: "fetal alcohol syndrome," "fetal alcohol spectrum disorder," "general medicine," "primary care," "primary care"; searched in French and English.
RESULTS
Twenty-three articles meeting the search criteria were selected. The interventions of GPs in the management of patients with FASD are multiple: prevention, identification, diagnosis, follow-up, education, and the role of coordinator for patients, their families, and pregnant women and their partners. FASD seems still underdiagnosed.
CONCLUSION
The interventions of GPs in the management of patients with FASD are comprehensive: prevention, identification, diagnosis, follow-up, education, and the role of coordinator for patients, their families, and pregnant women and their partners. Prevention interventions would decrease the incidence of FASD, thereby reducing the incidence of mental retardation, developmental delays, and social, educational and legal issues. A further study with a cluster randomized trial with a group of primary care practitioners trained in screening for alcohol use during pregnancy would be useful to measure the impact of training on the alcohol use of women of childbearing age and on the clinical status of their children.
Topics: Child; Humans; Female; Pregnancy; Fetal Alcohol Spectrum Disorders; Alcohol Drinking; Maternal-Fetal Exchange; Educational Status; General Practitioners; Randomized Controlled Trials as Topic
PubMed: 38388880
DOI: 10.1186/s12875-024-02291-x -
Pediatric Neurology Apr 2024Cerebral palsy (CP) is a clinical diagnosis and was long categorized as an acquired disorder, but more and more genetic etiologies are being identified. This review aims... (Review)
Review
BACKGROUND
Cerebral palsy (CP) is a clinical diagnosis and was long categorized as an acquired disorder, but more and more genetic etiologies are being identified. This review aims to identify the clinical characteristics that are associated with genetic CP to aid clinicians in selecting candidates for genetic testing.
METHODS
The PubMed database was systematically searched to identify genes associated with CP. The clinical characteristics accompanying these genetic forms of CP were compared with published data of large CP populations resulting in the identification of potential indicators of genetic CP.
RESULLTS
Of 1930 articles retrieved, 134 were included. In these, 55 CP genes (described in two or more cases, n = 272) and 79 candidate genes (described in only one case) were reported. The most frequently CP-associated genes were PLP1 (21 cases), ARG1 (17 cases), and CTNNB1 (13 cases). Dyskinesia and the absence of spasticity were identified as strong potential indicators of genetic CP. Presence of intellectual disability, no preterm birth, and no unilateral distribution of symptoms were classified as moderate genetic indicators.
CONCLUSIONS
Genetic causes of CP are increasingly identified. The clinical characteristics associated with genetic CP can aid clinicians regarding to which individual with CP to offer genetic testing. The identified potential genetic indicators need to be validated in large CP cohorts but can provide the first step toward a diagnostic algorithm for genetic CP.
Topics: Female; Humans; Cerebral Palsy; Premature Birth; Dyskinesias; Muscle Spasticity; Intellectual Disability
PubMed: 38382247
DOI: 10.1016/j.pediatrneurol.2024.01.025 -
Journal of Intellectual Disability... Apr 2024Lifestyle modification interventions for adults with intellectual disabilities have had, to date, mixed effectiveness. This study aimed to understand how lifestyle... (Review)
Review
Supporting active engagement of adults with intellectual disabilities in lifestyle modification interventions: a realist evidence synthesis of what works, for whom, in what context and why.
BACKGROUND
Lifestyle modification interventions for adults with intellectual disabilities have had, to date, mixed effectiveness. This study aimed to understand how lifestyle modification interventions for adults with intellectual disabilities work, for whom they work and in what circumstances.
METHODS
A realist evidence synthesis was conducted that incorporated input from adults with intellectual disabilities and expert researchers. Following the development of an initial programme theory based on key literature and input from people with lived experience and academics working in this field, five major databases (MEDLINE, EMBASE, CINAHL, PsycINFO and ASSIA) and clinical trial repositories were systematically searched. Data from 79 studies were synthesised to develop context, mechanism and outcome configurations (CMOCs).
RESULTS
The contexts and mechanisms identified related to the ability of adults with intellectual disabilities to actively take part in the intervention, which in turn contributes to what works, for whom and in what circumstances. The included CMOCs related to support involvement, negotiating the balance between autonomy and behaviour change, fostering social connectedness and fun, accessibility and suitability of intervention strategies and delivery and broader behavioural pathways to lifestyle change. It is also essential to work with people with lived experiences when developing and evaluating interventions.
CONCLUSIONS
Future lifestyle interventions research should be participatory in nature, and accessible data collection methods should also be explored as a way of including people with severe and profound intellectual disabilities in research. More emphasis should be given to the broader benefits of lifestyle change, such as opportunities for social interaction and connectedness.
Topics: Adult; Humans; Intellectual Disability; Behavior Therapy; Life Style
PubMed: 38379511
DOI: 10.1111/jir.13120 -
Disability and Rehabilitation Feb 2024Motor skills are involved in many physical activities and are prerequisites for the performance of sport skills. The purpose of this systematic review was to examine the... (Review)
Review
PURPOSE
Motor skills are involved in many physical activities and are prerequisites for the performance of sport skills. The purpose of this systematic review was to examine the effects of exercise training programs (ETP) on the motor skills of individuals with intellectual disabilities (IwID).
METHODS
Primary sources were obtained from four databases including PubMed, SCOPUS, CENTRAL, and Web of Science. The search period covered years from inception to October 26, 2023. Inclusion criteria were as follows: Population: IwID; Intervention: ETP; Comparator: motor skills vs. nontraining control; Outcomes: motor skills outcomes. Standardized mean differences, weighted mean differences, and 95% confidence intervals (CI) were calculated using both random and fixed-effect models for outcomes.
RESULTS
A total of 14 studies involving 586 participants were included in the systematic review. The results of the present meta-analysis showed that ETP improved composite motor skills (1.28 95% CI: [0.86, 1.70], = 0.001), gross motor skills (0.91, 95% CI: [0.62,1.19], = 0.001), fine motor skills (0.74, 95% CI: [0.21,1.27], = 0.01) and fine-gross motor skills (0.64, 95% CI: [0.29, 1.00], = 0.001).
CONCLUSION
The results meta-analysis demonstrated that ETP improves the motor skills of IwID. Therefore, it is recommended to apply ETP to improve the motor skills of the IwID.
PubMed: 38375618
DOI: 10.1080/09638288.2024.2318486 -
Journal of Applied Research in... Mar 2024Although particular technologies can enhance the quality of life (QoL) of people with profound intellectual and multiple disabilities (we use the term pervasive support... (Review)
Review
BACKGROUND
Although particular technologies can enhance the quality of life (QoL) of people with profound intellectual and multiple disabilities (we use the term pervasive support needs), their objectives and outcomes are understudied. A systematic literature review was therefore conducted to explore this topic.
METHOD
A search of four databases yielded 64 studies. Data were extracted on their general characteristics, methods and sample characteristics as well as the technology types, QoL domains and application within ecological systems. A narrative synthesis was subsequently developed.
RESULTS
Most of the studies applied assistive technology (AT) and focused on personal development and self-determination on an individual level.
CONCLUSIONS
Technology can enhance the QoL of people with pervasive support needs. There are indications that although MT and UD-based technology are used in practice, few studies have examined these technologies. Therefore, there is a knowledge gap regarding the kinds of technology that are used in practice.
Topics: Humans; Quality of Life; Intellectual Disability; Self-Help Devices; Disabled Persons; Technology
PubMed: 38369310
DOI: 10.1111/jar.13181