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Developmental Medicine and Child... Jun 2023To estimate the global prevalence of intellectual developmental disorder (IDD) and the IDD prevalence-genotype association in Becker muscular dystrophy (BMD) or Duchenne... (Meta-Analysis)
Meta-Analysis Review
AIM
To estimate the global prevalence of intellectual developmental disorder (IDD) and the IDD prevalence-genotype association in Becker muscular dystrophy (BMD) or Duchenne muscular dystrophy (DMD) according to the affected isoforms of the DMD gene: Dp427, Dp140, Dp71.
METHOD
Systematic searches in MEDLINE, Scopus, Web of Science, and the Cochrane Library were conducted from inception of each database to March 2022. Observational studies that determined the prevalence of IDD in the population with BMD or DMD were included. Meta-analyses of IDD prevalence and prevalence ratios of the IDD-genotype association were conducted.
RESULTS
Forty-nine studies were included. The prevalence of IDD in BMD was 8.0% (95% confidence interval 5.0-11.0), and in DMD it was 22.0% (18.0-27.0). Meta-analyses of IDD-genotype association showed a deleterious association between IDD and the number of isoforms affected in DMD, with a prevalence ratio = 0.43 (0.28-0.64) and 0.17 (0.09-0.34) for Dp140 /Dp71 versus Dp140 /Dp71 and Dp140 /Dp71 versus Dp140 /Dp71 comparisons respectively. However, in BMD, there was no association for Dp140 /Dp71 versus Dp140 /Dp71 .
INTERPRETATION
There is a high prevalence of IDD in BMD and DMD. Moreover, the number of isoforms affected is strongly and negatively associated with the prevalence of IDD in DMD.
WHAT THIS PAPER ADDS
The global prevalence of intellectual developmental disorder (IDD) was 8% in Becker muscular dystrophy and 22% in Duchenne muscular dystrophy (DMD). The global prevalence of IDD in DMD was 12%, 29%, and 84% in participants with Dp427 /Dp140 /Dp71 , Dp427 /Dp140 /Dp71 , and Dp427 /Dp140 /Dp71 genotypes respectively. In DMD, 12% and 22% of participants had abnormal performance IQ and verbal IQ values respectively.
Topics: Child; Humans; Muscular Dystrophy, Duchenne; Dystrophin; Developmental Disabilities; Prevalence; Intellectual Disability; Protein Isoforms
PubMed: 36440509
DOI: 10.1111/dmcn.15481 -
Clinical Psychology Review Nov 2017Mental health problems affect people with intellectual disabilities (ID) at rates similar to or in excess of the non-ID population. People with severe ID are likely to... (Review)
Review
Mental health problems affect people with intellectual disabilities (ID) at rates similar to or in excess of the non-ID population. People with severe ID are likely to have persistent mental health problems. In this systematic review (PROSPERO 2015:CRD42015024469), we identify and evaluate the methodological quality of available measures of mental health problems or well-being in individuals with severe or profound ID. Electronic searches of ten databases identified relevant publications. Two reviewers independently reviewed titles and abstracts of retrieved records (n=41,232) and full-text articles (n=573). Data were extracted and the quality of included papers was appraised. Thirty-two papers reporting on 12 measures were included. Nine measures addressed a broad spectrum of mental health problems, and were largely observational. One physiological measure of well-being was included. The Aberrant Behavior Checklist, Diagnostic Assessment for the Severely Handicapped Scale-II and Mood, Interest and Pleasure Questionnaire are reliable measures in this population. However, the psychometric properties of six other measures were only considered within a single study - indicating a lack of research replication. Few mental health measures are available for people with severe or profound ID, particularly lacking are tools measuring well-being. Assessment methods that do not rely on proxy reports should be explored further.
Topics: Humans; Intellectual Disability; Mental Disorders; Personal Satisfaction; Psychiatric Status Rating Scales
PubMed: 28821007
DOI: 10.1016/j.cpr.2017.08.006 -
Psychology and Psychotherapy Mar 2022Increasing evidence suggests that major depressive disorder (MDD) is highly prevalent in autism spectrum disorder (ASD). The current study is a systematic review of... (Review)
Review
OBJECTIVES
Increasing evidence suggests that major depressive disorder (MDD) is highly prevalent in autism spectrum disorder (ASD). The current study is a systematic review of rates of depression in autistic children and adolescents, without intellectual disability.
DESIGN
Adhering to PRISMA guidelines, a total of 14,557 studies were identified through five databases (MEDLINE, EMBASE, Cinahl, ERIC, PsycINFO, and Web of Science).
METHODS
Articles were screened for inclusion and exclusion criteria and 10% double coded at each stage. Nineteen studies met criteria and were retained in the review.
RESULT
The reported rates of depression in autistic children and adolescents varied from 0% to 83.3%. We discuss these findings in relation to method of report (self/informant, interview/questionnaire), recruitment status (clinical/community recruited), and age (pre-pubertal/adolescent).
CONCLUSION
Rates of depression vary considerably across studies and do not show a particular pattern in relation to methodology, or age. Our research joins a crucial call to action from the research community for future research to improve the identification of depression in autism, which in turn will aid our understanding of the potentially different characterization and manifestation of depression in autism, to ultimately improve assessment and treatment of depression in autistic children and adolescents.
PRACTITIONER POINTS
Rates of depression in autistic children and adolescents vary and do not show a particular pattern in relation to methodology or age. Our research joins the call to action from the research community for future research to improve the identification of depression in autistic children and adolescents, which in turn will aid understanding of depression in autism, and ultimately improve assessment and treatment of depression in autistic children and young people. The development of new measures of depression, specifically designed with, and for, children and adolescents with autism, is warranted.
Topics: Adolescent; Autism Spectrum Disorder; Autistic Disorder; Child; Depression; Depressive Disorder, Major; Humans; Intellectual Disability
PubMed: 34605156
DOI: 10.1111/papt.12366 -
European Journal of Pediatrics Jan 2016Prader-Willi syndrome (PWS) is a rare genetic syndrome. The phenotype includes moderate to intellectual disability, dysmorphia, obesity, and behavioral disturbances... (Review)
Review
UNLABELLED
Prader-Willi syndrome (PWS) is a rare genetic syndrome. The phenotype includes moderate to intellectual disability, dysmorphia, obesity, and behavioral disturbances (e.g., hetero and self-injurious behaviors, hyperphagia, psychosis). Psychotropic medications are widely prescribed in PWS for symptomatic control. We conducted a systematic review of published literature to examine psychotropic medications used in PWS. MEDLINE was searched to identify articles published between January 1967 and December 2014 using key words related to pharmacological treatments and PWS. Articles with original data were included based on a standardized four-step selection process. The identification of studies led to 241 records. All selected articles were evaluated for case descriptions (PWS and behavioral signs) and treatment (type, titration, efficiency, and side effects). Overall, 102 patients were included in these studies. Treatment involved risperidone (three reports, n = 11 patients), fluoxetine (five/n = 6), naltrexone (two/n = 2), topiramate (two/n = 16), fluvoxamine (one/n = 1), mazindol (one/n = 2), N-acetyl cysteine (one/n = 35), rimonabant (one/n = 15), and fenfluramine (one/n = 15).
CONCLUSION
We identified promising treatment effects with topiramate for self-injury and impulsive/aggressive behaviors, risperidone for psychotic symptoms associated with uniparental disomy (UPD), and N-acetyl cysteine for skin picking. The pharmacological approach of behavioral impairment in PWS has been poorly investigated to date. Further randomized controlled studies are warranted.
WHAT IS KNOWN
Behavioral disturbances in Prader-Willi syndrome including aggressive reactions, skin picking, and hyperphagia might be very difficult to manage. Antipsychotic drugs are widely prescribed, but weight gain and increased appetite are their major side effects.
WHAT IS NEW
Topiramate might be efficient for self-injury and impulsive/aggressive behaviors, N-acetyl cysteine is apromising treatment for skin picking and Antidepressants are indicated for OCD symptoms. Risperidone is indicated in case of psychotic symptoms mainly associated with uniparental disomy.
Topics: Adolescent; Child; Child, Preschool; Cystine; Fructose; Humans; Prader-Willi Syndrome; Psychotropic Drugs; Risperidone; Topiramate
PubMed: 26584571
DOI: 10.1007/s00431-015-2670-x -
Journal of Applied Research in... Jan 2022People with intellectual disabilities have a high risk of developing mental ill-health. Treatment is often neglected and diagnosis is misattributed to a person's... (Review)
Review
BACKGROUND
People with intellectual disabilities have a high risk of developing mental ill-health. Treatment is often neglected and diagnosis is misattributed to a person's disability. Standard psychosocial interventions can improve a person's well-being. This review aimed to understand what interventions are being delivered, any benefits, and future recommendations.
METHODS
Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) guidelines were followed, and the review registered with PROSPERO-CRD42020160254. Databases searched included: MEDLINE, Embase, and PsycINFO. A framework synthesis approach was used to present the findings.
RESULTS
There are limited psychosocial interventions offered for this population. When groups are delivered having a creative element, multiple activities over a short period of time, with breaks and group rules outcomes can be improved.
CONCLUSIONS
Adaptations and reasonable adjustments should be used specifically to a person's ability. A mixed-method design allows people to share their experiences alongside quantitative data that provides clinical information.
Topics: Disabled Persons; Humans; Intellectual Disability; Mental Health; Psychosocial Intervention
PubMed: 34337837
DOI: 10.1111/jar.12919 -
Journal of Applied Research in... Sep 2018Constipation can lead to serious health issues and death. This systematic review summarizes international research pertaining to the management of constipation in people... (Review)
Review
BACKGROUND
Constipation can lead to serious health issues and death. This systematic review summarizes international research pertaining to the management of constipation in people with intellectual disability.
METHOD
Studies published from 1990 to 2017 were identified using Medline, Cinahl, PsycINFO, Web of Science, email requests and cross-citations. Studies were reviewed narratively in relation to identified themes.
RESULTS
Eighteen studies were reviewed in relation to three themes: laxative receipt; interventions (dietary fibre, abdominal massage and macrogol); and staff issues (knowledge and training). Laxative polypharmacy was common. Studies report positive results for dietary fibre and abdominal massage although study quality was limited.
CONCLUSION
The main management response to constipation in people with intellectual disability is laxative use despite limited effectiveness. An improved evidence base is required to support the suggestion that an individualized, integrated bowel management programme may reduce constipation and associated health conditions in people with intellectual disability.
Topics: Constipation; Humans; Intellectual Disability
PubMed: 29168259
DOI: 10.1111/jar.12426 -
The Lancet. Psychiatry Sep 2023People with intellectual disability show a high prevalence of behaviours that challenge. Clinical guidelines recommend that such behaviour should first be treated with... (Meta-Analysis)
Meta-Analysis
Non-pharmacological and pharmacological interventions for the reduction or prevention of topographies of behaviours that challenge in people with intellectual disabilities: a systematic review and meta-analysis of randomised controlled trials.
BACKGROUND
People with intellectual disability show a high prevalence of behaviours that challenge. Clinical guidelines recommend that such behaviour should first be treated with non-pharmacological interventions, but research suggests off-label pharmaceuticals are commonly used. We aimed to evaluate the efficacy of non-pharmacological and pharmacological interventions for topographies of behaviours that challenge drawn from randomised controlled trials (RCTs).
METHODS
In this systematic review and meta-analysis, we searched PsycINFO, MEDLINE, Embase, CINAHL, and CENTRAL databases for RCT studies assessing an intervention (pharmacological or non-pharmacological) for behaviours that challenge (self-injury behaviour, aggression, destruction of property, irritability, and a composite overall measure) in participants with intellectual disability. The primary aim was to assess the efficacy of non-pharmacological and pharmacological interventions on behaviours that challenge. Secondary aims were to evaluate how effects varied over time and whether intervention, methodological, and participant characteristics moderate efficacy. We extracted standard mean difference (SMD) effect sizes (Cohen's d) from eligible studies and meta-analysed the data using a series of random effects models and subgroup analyses. This study was registered with PROSPERO 2021, CRD4202124997.
FINDINGS
Of 11 912 reports identified, 82 studies were included. 42 (51%) studies assessed non-pharmacological interventions and 40 (49%) assessed pharmacological interventions. Across all studies, 4637 people with intellectual disability aged 1-84 years (mean age 17·2 years) were included. 2873 (68·2%) were male, 1339 (28·9%) were female, and for 425 (9·2%) individuals, data on gender were not available. Data on ethnicity were unavailable. Small intervention effects were found for overall behaviours that challenge at post-intervention (SMD -0·422, 95% CI -0·565 to -0·279), overall behaviours that challenge at follow-up (-0·324, -0·551 to -0·097), self-injury behaviour at post-intervention (-0·238, -0·453 to -0·023), aggression at post-intervention (-0·438, -0·566 to -0·309), and irritability at post-intervention (-0·255, -0·484 to -0·026). No significant differences between non-pharmacological and pharmacological interventions were found for any topography of behaviours that challenge (all p>0·05).
INTERPRETATION
A broad range of interventions for behaviours that challenge are efficacious with small effect sizes for people with intellectual disability. These findings highlight the importance of precision in the measurement of behaviours that challenge, and when operationalising intervention components and dosages.
FUNDING
Cerebra.
Topics: Female; Male; Humans; Adolescent; Intellectual Disability; Aggression; Self-Injurious Behavior; Databases, Factual; Ethnicity; Randomized Controlled Trials as Topic
PubMed: 37595996
DOI: 10.1016/S2215-0366(23)00197-9 -
Journal of Pediatric Surgery Sep 2022Emanuel Syndrome (ES), a rare chromosomal disorder caused by a supernumerary chromosome 22 derivative (der(22)t(11;22)), was identified in a fetus with congenital...
BACKGROUND
Emanuel Syndrome (ES), a rare chromosomal disorder caused by a supernumerary chromosome 22 derivative (der(22)t(11;22)), was identified in a fetus with congenital diaphragmatic hernia (CDH) at our fetal center. We aimed to identify a precedent for clinical care and patient outcomes to guide family decision-making.
METHODS
This non-funded and non-registered study queried the entire CDH Registry (CDHR) including >10,000 patients since 1995 and conducted a systematic literature review for patients with concomitant ES and CDH.
RESULTS
Literature review captured 12 citations and identified 9 patients with CDH+ES from over 400 known ES cases. Given the rarity of the disease and to reduce bias, there were no exclusion criteria aside from non-English language. Of these 9, two underwent surgical CDH repair with neither surviving. The CDHR identified 6 patients with ES, all reported after 2013 and prenatally diagnosed. Median estimated gestational age was 39 weeks (range 37-40) and median birth weight was 2.72 kg (range 2.4-3.4 kg). 3 patients died within the first few postnatal days; surgical repair was not offered due to "anomalies" and "pulmonary hypertension" in two and one family chose comfort measures. The other 3 patients underwent surgical repair, and 2 were supported with ECMO. Two patients survived to discharge, incurring surgical comorbidities associated with severe CDH including gastrostomy dependence, tracheostomy, and CDH recurrence.
CONCLUSIONS
ES patients with CDH have potential to tolerate repair and survive to discharge, however with significant additional morbidity combined with severe challenges inherent to ES. This represents the largest series of patients with CDH and ES to date.
LEVEL OF EVIDENCE
IV (Case series with no comparison group).
Topics: Chromosome Disorders; Cleft Palate; Extracorporeal Membrane Oxygenation; Heart Defects, Congenital; Hernias, Diaphragmatic, Congenital; Humans; Infant; Intellectual Disability; Muscle Hypotonia; Retrospective Studies
PubMed: 34865829
DOI: 10.1016/j.jpedsurg.2021.11.005 -
Journal of the European Academy of... Apr 2022Long eyelashes have been popularized and many commercially available products exist to achieve eyelash growth as a desired cosmetic effect. Eyelash trichomegaly may be... (Review)
Review
Long eyelashes have been popularized and many commercially available products exist to achieve eyelash growth as a desired cosmetic effect. Eyelash trichomegaly may be induced by medications, procedures, or be related to medical conditions; however, the exact mechanisms that govern eyelash growth are not well elucidated. This study aims to identify and summarize aetiologies associated with eyelash trichomegaly. We report a systematic review of 148 clinical trials, prospective and retrospective studies, and case reports describing all evidence-based potential aetiologies of eyelash trichomegaly obtained from the Medline/PubMed and Cochrane Library through January 2021. Inclusion criteria were defined as (i) human studies involving congenital and acquired diseases in which eyelash trichomegaly is a characteristic or (ii) assessment of trichomegaly as an adverse or desired effect of a medication or procedure. Exclusion criteria included: animal studies, articles not available in English, outcomes unrelated to eyelash trichomegaly, and secondary review articles. Pharmacologic agents associated with eyelash trichomegaly included prostaglandin analogues (15-keto fluprostenol isopropyl ester, bimatoprost, latanoprost, and travoprost), epidermal growth factor receptor inhibitors (cetuximab, erlotinib, and panitumumab), interferon-alpha, and calcineurin inhibitors (tacrolimus and cyclosporine). Surgical procedures of the eyelid, as well as allergic rhinitis, atopic dermatitis, HIV, ichthyosis vulgaris (IV), uveitis, and vernal keratoconjunctivitis were also associated with increased eyelash growth. Congenital disorders associated with lengthened eyelashes included Cantú syndrome, CHOPS syndrome, Coffin-Siris syndrome, congenital heart disease, Cornelia de Lange syndrome, Costello syndrome, familial trichomegaly, Floating Harbor syndrome, Hermansky-Pudlak syndrome, Kabuki-Makeup syndrome, KBG syndrome, Oliver-McFarlane syndrome, Rubinstein-Taybi syndrome, and Smith-Magenis syndrome. While the most common cause of eyelash trichomegaly is topical bimatoprost use, better understanding of pathways implicated in eyelash trichomegaly may lead to the discovery of additional medications to stimulate eyelash growth and create avenues for future therapeutic interventions.
Topics: Abnormalities, Multiple; Animals; Bone Diseases, Developmental; Facies; Humans; Intellectual Disability; Prospective Studies; Retrospective Studies; Tooth Abnormalities
PubMed: 34919300
DOI: 10.1111/jdv.17877 -
Research in Developmental Disabilities Dec 2015To present an analysis of the evidence related to the prevalence of diabetes in people with intellectual disabilities (ID), their experiences of their condition and... (Review)
Review
OBJECTIVE
To present an analysis of the evidence related to the prevalence of diabetes in people with intellectual disabilities (ID), their experiences of their condition and treatment and those of their carers.
MATERIALS AND METHODS
A systematic literature review was conducted. A total of 22 studies exploring diabetes prevalence and 5 exploring views and experiences of diabetes in people with ID were identified and included. A narrative synthesis approach was utilised to amalgamate data extracted from the included studies regarding some 49,046 participants with ID and diabetes and 31 care professionals and family members across Europe, North America, New Zealand, Australia, China and Hong Kong.
RESULTS
Prevalence rates of diabetes in people with ID were highly varied, ranging from 0.4% to 25%. 7 studies reported significantly higher rates of diabetes in people with ID than the general population. People with ID reported a basic understanding of diabetes and wanted to know more. Carers reported that they lack diabetes knowledge and do not routinely encourage diabetes self-management skills. Several studies neglected to report vital demographic information such as participants' level of ID (13 studies) and diabetes type (16 studies) and the quality of included prevalence studies was variable.
CONCLUSIONS
Further research in this field is required, notably prevalence studies which control for participant demographics and personal situations to obtain more accurate diabetes prevalence rates in this population group. People with ID and diabetes should be encouraged to participate in future research and we recommend exploring the feasibility of adapting current mainstream diabetes management programmes for these individuals.
Topics: Attitude of Health Personnel; Comorbidity; Diabetes Mellitus; Education of Intellectually Disabled; Health Knowledge, Attitudes, Practice; Humans; Intellectual Disability; Patient Education as Topic; Prevalence; Self Care
PubMed: 26496008
DOI: 10.1016/j.ridd.2015.10.003