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European Journal of Human Genetics :... Jan 2005There are no guidelines available for diagnostic studies in patients with mental retardation (MR) established in an evidence-based manner. Here we report such study,... (Review)
Review
There are no guidelines available for diagnostic studies in patients with mental retardation (MR) established in an evidence-based manner. Here we report such study, based on information from original studies on the results with respect to detected significant anomalies (yield) of six major diagnostic investigations, and evaluate whether the yield differs depending on setting, MR severity, and gender. Results for cytogenetic studies showed the mean yield of chromosome aberrations in classical cytogenetics to be 9.5% (variation: 5.4% in school populations to 13.3% in institute populations; 4.1% in borderline-mild MR to 13.3% in moderate-profound MR; more frequent structural anomalies in females). The median yield of subtelomeric studies was 4.4% (also showing female predominance). For fragile X screening, yields were 5.4% (cytogenetic studies) and 2.0% (molecular studies) (higher yield in moderate-profound MR; checklist use useful). In metabolic investigations, the mean yield of all studies was 1.0% (results depending on neonatal screening programmes; in individual populations higher yield for specific metabolic disorders). Studies on neurological examination all showed a high yield (mean 42.9%; irrespective of setting, degree of MR, and gender). The yield of neuroimaging studies for abnormalities was 30.0% (higher yield if performed on an indicated basis) and the yield for finding a diagnosis based on neuroradiological studies only was 1.3% (no data available on value of negative findings). A very high yield was found for dysmorphologic examination (variation 39-81%). The data from this review allow conclusions for most types of diagnostic investigations in MR patients. Recommendations for further studies are provided.
Topics: Chromosome Aberrations; Cytogenetics; Environmental Exposure; Female; Fragile X Syndrome; Humans; Intellectual Disability; Male; Telomere
PubMed: 15523501
DOI: 10.1038/sj.ejhg.5201279 -
BMJ Open Jun 2018Mental health problems are more prevalent in people with than without intellectual disabilities, yet treatment options have received little attention. The aim of this...
OBJECTIVE
Mental health problems are more prevalent in people with than without intellectual disabilities, yet treatment options have received little attention. The aim of this study was to identify and evaluate the effectiveness of pharmacological and psychological interventions in the treatment of mental health problems in children and adults with severe and profound intellectual disabilities, given their difficulties in accessing standard mental health interventions, particularly talking therapies, and difficulties reporting drug side effects.
DESIGN
A systematic review using electronic searches of PsycINFO, PsycTESTS, EMBASE, MEDLINE, CINAHL, ERIC, ASSIA, Science Citation Index, Social Science Citation Index and CENTRAL was conducted to identify eligible intervention studies. Study selection, data extraction and quality appraisal were performed by two independent reviewers.
PARTICIPANTS
Study samples included at least 70% children and/or adults with severe or profound intellectual disabilities or reported the outcomes of this subpopulation separate from participants with other levels of intellectual disabilities.
INTERVENTIONS
Eligible intervention studies evaluated a psychological or pharmacological intervention using a control condition or pre-post design.
OUTCOMES
Symptom severity, frequency or other quantitative dimension (e.g., impact), as assessed with standardised measures of mental health problems.
RESULTS
We retrieved 41 232 records, reviewed 573 full-text articles and identified five studies eligible for inclusion: three studies evaluating pharmacological interventions, and two studies evaluating psychological interventions. Study designs ranged from double-blind placebo controlled crossover trials to single-case experimental reversal designs. Quality appraisals of this very limited literature base revealed good experimental control, poor reporting standards and a lack of follow-up data.
CONCLUSIONS
Mental ill health requires vigorous treatment, yet the current evidence base is too limited to identify with precision effective treatments specifically for children or adults with severe and profound intellectual disabilities. Clinicians therefore must work on the basis of general population evidence, while researchers work to generate more precise evidence for people with severe and profound intellectual disabilities.
PROSPERO REGISTRATION NUMBER
CRD 42015024469.
Topics: Adult; Child; Humans; Intellectual Disability; Mental Disorders; Mental Health; Randomized Controlled Trials as Topic
PubMed: 29921688
DOI: 10.1136/bmjopen-2018-021911 -
The Australian and New Zealand Journal... Oct 2020Children and adolescents with intellectual disability are at risk of developing psychiatric symptoms and disorders; yet, the estimates reported in the literature have... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Children and adolescents with intellectual disability are at risk of developing psychiatric symptoms and disorders; yet, the estimates reported in the literature have been inconsistent, presenting a potential barrier for service planning and delivery. Sources of variability could arise from differences in measurement instruments as well as subgroup membership by severity of intellectual disability, gender and age. This systematic review aimed to address these gaps.
METHOD
MEDLINE and PsycINFO databases were searched from inception to 2018 and selected studies were reviewed. Studies were included if they reported point prevalence estimates of mental health symptomology or diagnoses in a general population of 6- to 21-year-old individuals with intellectual disability. The Joanna Briggs Institute Prevalence Critical Appraisal Checklist was applied to eligible papers to appraise their scientific strength. Pooled prevalence for mental health symptomology was determined using a random-effects meta-analysis.
RESULTS
A total of 19 studies were included, including 6151 children and adolescents. The pooled prevalence estimate captured by the Developmental Behaviour Checklist was 38% (95% confidence interval = [31, 46]), contrasting with 49% (95% confidence interval = [46, 51]) captured by the Child Behaviour Checklist; both rates were higher than a non-intellectual disability population. Severity of intellectual disability did not significantly influence the Developmental Behaviour Checklist risks. Insufficient data were available to conduct statistical analyses on the effects of age, gender and socioeconomic status. Of diagnosed psychiatric disorders, attention deficit/hyperactivity disorder (30%), conduct disorder (3-21%) and anxiety disorders (7-34%) were the most prevalent conditions.
CONCLUSION
This review consists of the largest sample hitherto evaluated. In the intellectual disability population, mental health comorbidities could be better detected by a symptom phenotype than a psychiatric diagnostic phenotype. Crucially, future research needs to address the effect of measurement validity in the intellectual disability population. Estimated prevalence rates were high compared to the general population, indicating the importance of systematic screening, case detection and appropriate management.
Topics: Adolescent; Adult; Anxiety Disorders; Child; Comorbidity; Humans; Intellectual Disability; Mental Health; Prevalence; Young Adult
PubMed: 32475125
DOI: 10.1177/0004867420924101 -
Journal of Intellectual Disability... Jun 2023In the general population, low self-esteem has been linked with poorer mental and physical health. This systematic literature review aimed to summarise and evaluate the... (Review)
Review
BACKGROUND
In the general population, low self-esteem has been linked with poorer mental and physical health. This systematic literature review aimed to summarise and evaluate the findings of studies that examined self-esteem in adults with intellectual disabilities and links with mental health outcomes.
METHOD
A systematic search of PsycINFO, Web of Science and CINAHL was conducted to identify studies published between 1990 and 2021. The studies were appraised using the QualSyst tool.
RESULTS
Twenty-six articles were identified of which two studies were removed from the review due to low quality. Studies reported mixed evidence regarding levels of self-esteem compared with the general population. Engagement in activities appeared to be linked with positive self-esteem, and perception of negative interpersonal life events as having a negative impact was associated with lower self-esteem. There was evidence of co-occurrence of low self-esteem and depression, but no studies examined the relationship between self-esteem and anxiety.
CONCLUSION
Reviewed studies provided mixed evidence on levels of self-esteem in this population, suggesting that factors such as engagement in life were related to higher self-esteem and demonstrating the co-occurrence of low self-esteem and depression. However, clear causal links have yet to be identified, and more research is needed using longitudinal designs to answer questions about trajectory.
Topics: Humans; Adult; Depression; Intellectual Disability; Anxiety; Anxiety Disorders; Self Concept
PubMed: 36855028
DOI: 10.1111/jir.13025 -
Journal of Applied Research in... Jan 2023In recent years, third-wave therapies have risen to prominence. Research into adapting and evaluating third-wave therapies for adults with intellectual disabilities has... (Review)
Review
BACKGROUND
In recent years, third-wave therapies have risen to prominence. Research into adapting and evaluating third-wave therapies for adults with intellectual disabilities has identified that third-wave therapies are accessible, acceptable, and effective (improving a range of symptoms and skills).
METHOD
This meta-ethnography followed Noblit and Hare's approach to synthesising findings from qualitative studies to examine how adults with intellectual disabilities experience third-wave therapy groups. A systematic review of three databases identified 13 studies that met our inclusion criteria.
RESULTS
We identified that third-wave therapy groups can be a 'Transformational' process for adults with intellectual disabilities that involves three stages: 'Concealment', 'Opening up' and 'Flourishing'.
CONCLUSION
Findings highlight the importance of therapeutic processes; especially, working with defences, and developing and maintaining safety/trust. Recommendations include the development of an objective measure of group safety/trust.
Topics: Adult; Humans; Intellectual Disability; Anthropology, Cultural; Qualitative Research
PubMed: 36336795
DOI: 10.1111/jar.13045 -
Journal of Neurodevelopmental Disorders Aug 2022CHARGE syndrome (OMIM #214800) is a phenotypically complex genetic condition characterised by multi-system, multi-sensory impairments. Behavioural, psychological,... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
CHARGE syndrome (OMIM #214800) is a phenotypically complex genetic condition characterised by multi-system, multi-sensory impairments. Behavioural, psychological, cognitive and sleep difficulties are not well delineated and are likely associated with biopsychosocial factors.
METHODS
This meta-analysis investigated the prevalence of clinical features, physical characteristics and conditions, behavioural, psychological, cognitive and sleep characteristics in CHARGE syndrome, and statistically evaluated directional associations between these characteristics. Pooled prevalence estimates were calculated using reliable, prespecified quality weighting criteria, and meta-regression was conducted to identify associations between characteristics.
RESULTS
Of the 42 eligible studies, data could be extracted for 1675 participants. Prevalence estimates were highest for developmental delay (84%), intellectual disability (64%), aggressive behaviour (48%), self-injurious behaviour (44%) and sleep difficulties (45%). Meta-regression indicated significant associations between intellectual disability and choanal atresia, intellectual disability and inner ear anomalies, sleep difficulties and growth deficiency, and sleep difficulties and gross motor difficulties.
CONCLUSIONS
Our comprehensive review of clinical features, behavioural, psychological, cognitive and physical characteristics, conditions and comorbidities in CHARGE syndrome provides an empirically based foundation to further research and practice.
Topics: Aggression; CHARGE Syndrome; Humans; Intellectual Disability; Self-Injurious Behavior; Sleep Wake Disorders
PubMed: 36045324
DOI: 10.1186/s11689-022-09459-5 -
Obesity Reviews : An Official Journal... Jul 2016Although there have been numerous studies examining the prevalence of overweight and obesity among children and adolescents with intellectual disabilities, they have not... (Meta-Analysis)
Meta-Analysis Review
Although there have been numerous studies examining the prevalence of overweight and obesity among children and adolescents with intellectual disabilities, they have not yet been integrated and synthesized through a systematic quantitative review process. The purpose of this systematic review and meta-analysis was to determine: (i) the prevalence of overweight/obesity among children and adolescents with intellectual disabilities; (ii) the sources of heterogeneity in studies reporting the prevalence of overweight/obesity in this population; and (iii) the risk of overweight/obesity in this population compared with their typically developing peers. A systematic literature search was performed and 16 studies, published between 1985 and 2015, met the inclusion criteria. The resulting pooled prevalence estimates for overweight, overweight-obesity and obesity were respectively: (i) 15%, 30%, and 13%, in children; and (ii) 18%, 33%, and 15% in adolescents. Subgroup analyses showed significant variations in the pooled prevalence estimates as a function of geographical region, recruitment setting, additional diagnoses, and norms used to define overweight or obesity. The findings also showed adolescents with intellectual disabilities to be respectively 1.54 and 1.80 times more at risk of overweight-obesity and obesity than typically developing adolescents. Unfortunately, no such comparison is available for children. © 2016 World Obesity.
Topics: Adolescent; Child; Databases, Factual; Humans; Intellectual Disability; Overweight; Pediatric Obesity; Prevalence; Risk Factors
PubMed: 27171466
DOI: 10.1111/obr.12408 -
Journal of Intellectual Disabilities :... Sep 2022Mental health professionals play an important role in providing care and treatment for adults with intellectual disabilities. A number of studies use qualitative methods...
Experiences of mental health professionals providing services to adults with intellectual disabilities and mental health problems: A systematic review and meta-synthesis of qualitative research studies.
BACKGROUND
Mental health professionals play an important role in providing care and treatment for adults with intellectual disabilities. A number of studies use qualitative methods to explore the experiences of these professionals and their perspectives regarding the mental health services for this population. A systematic review using meta-ethnographic approach was undertaken to summarise this research.
METHOD
A systematic search found 14 relevant studies which were critically appraised. Key themes from these studies were extracted and synthesised.
RESULTS
Three main themes were identified: 1) Understanding the person, 2) Relational interaction and 3) Organisational factors.
CONCLUSIONS
The findings of this review identified the issues mental health professionals raised in relation to their work. They described the complex presenting problems as intense yet fulfilling therapeutic relationships with their clients and their wish to improve their knowledge and skills. They identified organisational issues that need to be addressed to improve staff morale and efficiency.
Topics: Adult; Health Personnel; Humans; Intellectual Disability; Mental Health; Qualitative Research
PubMed: 34165022
DOI: 10.1177/17446295211016182 -
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 -
Intellectual and Developmental... Dec 2014The literature related to people with borderline intellectual functioning (BIF) was systematically reviewed in order to summarize the present knowledge. Database... (Review)
Review
The literature related to people with borderline intellectual functioning (BIF) was systematically reviewed in order to summarize the present knowledge. Database searches yielded 1,726 citations, and 49 studies were included in the review. People with BIF face a variety of hardships in life, including neurocognitive, social, and mental health problems. When adults with BIF were compared with the general population, they held lower-skilled jobs and earned less money. Although some risk factors (e.g., low birth weight) and preventive factors (e.g., education) were reported, they were not specific to BIF. The review finds that, despite the obvious everyday problems, BIF is almost invisible in the field of research. More research, societal discussion, and flexible support systems are needed.
Topics: Adult; Employment; Humans; Intellectual Disability; Intelligence; Learning Disabilities; Mental Health; Severity of Illness Index
PubMed: 25409130
DOI: 10.1352/1934-9556-52.6.419