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Frontiers in Physiology 2023This systematic review with meta-analysis aims to assess the magnitude of the effects of physical exercise programs on body mass index (BMI) and waist circumference...
This systematic review with meta-analysis aims to assess the magnitude of the effects of physical exercise programs on body mass index (BMI) and waist circumference (WC) of individuals with Intellectual and Developmental Disabilities (IDD), metabolic and cardiovascular health markers. Considering the eligibility criteria, a final sample of nine articles was obtained. For BMI, the -value obtained to test the null hypothesis (difference between means is zero), showed a = -2.176 and = 0.03. The highest magnitude of the effect was from the intervention with combined training (difference in means: -0.399), with a value of = -1.815 and = 0.07. For WC, the -value is zero, showing a = -3.306 and = 0.001. The highest magnitude of the effect was from the intervention with continuous cardiorespiratory training of -0.786, with a value of = -2.793 and = 0.005. Physical exercise prevents increases in BMI and WC in individuals with IDD. Aerobic training seems to be more effective in promoting WC and combined training in BMI. : [PROSPERO], identifier [CRD42021255316].
PubMed: 37601630
DOI: 10.3389/fphys.2023.1236379 -
Seizure Apr 2024Adequate pre-pregnancy counselling and education planning are essential to improve outcomes for offspring of women with epilepsy (OWWE). The current systematic review... (Meta-Analysis)
Meta-Analysis Comparative Study
BACKGROUND
Adequate pre-pregnancy counselling and education planning are essential to improve outcomes for offspring of women with epilepsy (OWWE). The current systematic review and meta-analysis aimed to compare outcomes for OWWE and offspring of women without epilepsy (OWWoE).
METHODS
We conducted a systematic review and meta-analysis. We searched MEDLINE, EMBASE, CINAHL, PsycINFO (database inception-1 January 2023), OpenGrey, GoogleScholar, and hand-searched journals and reference lists of included studies to identify eligible studies. We placed no language restrictions and included observational studies concerning OWWE and OWWoE. We followed the PRIMSA checklist for abstracting data. The Newcastle-Ottawa Scale for risk of bias assessment was conducted independently by two authors with mediation by a third. We report pooled unadjusted odds ratios (OR) or mean differences (MD) with 95% confidence intervals (95CI) from random (I>50%) or fixed (I<50%) effects meta-analyses. Outcomes of interest included offspring autism, attention deficit/hyperactive disorder, intellectual disability, epilepsy, developmental disorder, intelligence, educational, and adulthood socioeconomic outcomes.
RESULTS
Of 10,928 articles identified, we included 21 in meta-analyses. OWWE had increased odds of autism (2 articles, 4,502,098 offspring) OR [95CI] 1·67 [1·54, 1·82], attention-deficit/hyperactivity disorder (3 articles, 957,581 offspring) 1·59 [1·44, 1·76], intellectual disability (2 articles, 4,501,786 children) 2·37 [2·13, 2·65], having special educational needs (3 articles, 1,308,919 children) 2·60 [1·07, 6·34]. OWWE had worse mean scores for full-scale intelligence (5 articles, 989 children) -6·05 [-10·31, -1·79]. No studies were identified that investigated adulthood socioeconomic outcomes.
CONCLUSIONS
Increased odds of poor outcomes are higher with greater anti-seizure medication burden including neurodevelopmental and educational outcomes. In fact, these two outcomes seem to be worse in OWWE compared to OWWoE, even if there was no ASM exposure during pregnancy, but further work is needed to take into account potential confounding factors.
Topics: Humans; Epilepsy; Female; Pregnancy; Adult; Pregnancy Complications; Neurodevelopmental Disorders; Educational Status; Socioeconomic Factors; Developmental Disabilities
PubMed: 38484631
DOI: 10.1016/j.seizure.2024.02.014 -
Clinical Psychology Review Jun 2024Behaviours that challenge (BtC) are common in people with intellectual disability (ID) and associated with negative long-term outcomes. Reliable characterisation of BtC... (Meta-Analysis)
Meta-Analysis Review
Measurement tools for behaviours that challenge and behavioural function in people with intellectual disability: A systematic review and meta-analysis of internal consistency, inter-rater reliability, and test-retest reliability.
Behaviours that challenge (BtC) are common in people with intellectual disability (ID) and associated with negative long-term outcomes. Reliable characterisation of BtC and behavioural function is integral to person-centred interventions. This systematic review and meta-analytic study quantitatively synthesised the evidence-base for the internal consistency, inter-rater reliability, and test-retest reliability of measures of BtC and behavioural function in people with ID (PROSPERO: CRD42021239042). Web of Science, Embase, PsycINFO and MEDLINE were searched from inception to March 2024. Retrieved records (n = 3691) were screened independently to identify studies assessing eligible measurement properties in people with ID. Data extracted from 83 studies, across 29 measures, were synthesised in a series of random-effects meta-analyses. Subgroup analyses assessed the influence of methodological quality and study-level characteristics on pooled estimates. COSMIN criteria were used to evaluate the measurement properties of each measure. Pooled estimates ranged across measures: internal consistency (0.41-0.97), inter-rater reliability (0.29-0.93) and test-retest reliability (0.52-0.98). The quantity and quality of evidence varied substantially across measures; evidence was frequently unavailable or limited to a single study. Based on current evidence, candidate measures with the most evidence for internal consistency and reliability are discussed; however, continued assessment of measurement properties in ID populations is a key priority.
Topics: Humans; Intellectual Disability; Reproducibility of Results; Psychometrics
PubMed: 38718632
DOI: 10.1016/j.cpr.2024.102434 -
International Urology and Nephrology Oct 2023Some authors have estimated that the incidence of testicular germ cell tumors in individuals with trisomy 21 is more than fivefold higher than that in the general... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Some authors have estimated that the incidence of testicular germ cell tumors in individuals with trisomy 21 is more than fivefold higher than that in the general population.
OBJECTIVE
This systematic review aimed to estimate the incidence of urological tumors in patients with Down's syndrome.
STUDY DESIGN
We conducted a search strategy in MEDLINE (OVID), EMBASE, LILACS, and the Cochrane Central Register of Controlled Trials (CENTRAL) from inception to nowadays. We assessed the risk of bias and performed a meta-analysis. Also, the heterogeneity between trials was evaluated by the I test. We completed the subgroup analysis based on the type of urological tumor (testis, bladder, kidney, upper urological tract, penile, retroperitoneum).
RESULTS
We found 350 studies by the search strategy. After carefully reviewing, full-text studies were included. 16,248 individuals with Down's syndrome were included, and 42 patients presented with urological tumors. There was a total incidence of 0.1%, 95%CI (0.06-0.19), I 61%. The most common urological tumor reported was testicular. We found six studies describing 31 events and an overall incidence of 0.19%, 95%CI (0.11-0.33), I: 51%. Other studies reported kidney, penile, upper urinary tract, bladder, and retroperitoneum tumors with a very low incidence, 0.02%, 0.06%, 0.03%, 0.11%and 0.07%, respectively.
DISCUSSION
Regarding non-testicular urological tumors, we found incidences as low as 0.02% in kidney cancer or 0.03% in the upper-urothelial tract tumors. It is also lower than the general population. Compared to the age of onset of patients, it is also lower than the general population, perhaps related to a shorter life expectancy. As a limitation, we found a high heterogeneity and a lack of information regarding non-testicular tumors.
CONCLUSION
There was a very low incidence of urological tumors in people with Down's syndrome. Testis tumor was the most frequently described in all cohorts and within a normal distribution range.
Topics: Male; Humans; Down Syndrome; Incidence; Testicular Neoplasms; Urologic Neoplasms
PubMed: 37368086
DOI: 10.1007/s11255-023-03656-4 -
Frontiers in Pediatrics 2024Developmental language disorder (DLD) is a common childhood condition negatively influencing communication and psychosocial development. An increasing number of... (Review)
Review
INTRODUCTION
Developmental language disorder (DLD) is a common childhood condition negatively influencing communication and psychosocial development. An increasing number of pathogenic variants or chromosomal anomalies possibly related to DLD have been identified. To provide a base for accurate clinical genetic diagnostic work-up for DLD patients, understanding the specific genetic background is crucial. This study aims to give a systematic literature overview of pathogenic variants or chromosomal anomalies causative for DLD in children.
METHODS
We conducted a systematic search in PubMed and Embase on available literature related to the genetic background of diagnosed DLD in children. Included papers were critically appraised before data extraction. An additional search in OMIM was performed to see if the described DLD genes are associated with a broader clinical spectrum.
RESULTS
The search resulted in 15,842 papers. After assessing eligibility, 47 studies remained, of which 25 studies related to sex chromosome aneuploidies and 15 papers concerned other chromosomal anomalies (SCAs) and/or Copy Number Variants (CNVs), including del15q13.1-13.3 and del16p11.2. The remaining 7 studies displayed a variety of gene variants. 45 (candidate) genes related to language development, including , , , and . After an additional search in the OMIM database, 22 of these genes were associated with a genetic disorder with a broader clinical spectrum, including intellectual disability, epilepsy, and/or autism.
CONCLUSION
Our study illustrates that DLD can be related to SCAs and specific CNV's. The reported (candidate) genes ( = 45) in the latter category reflect the genetic heterogeneity and support DLD without any comorbidities and syndromic language disorder have an overlapping genetic etiology.
PubMed: 38298611
DOI: 10.3389/fped.2024.1315229 -
Immunity, Inflammation and Disease Mar 2024Down syndrome (DS) is associated with multiple comorbid conditions and chronic immune dysfunction. Persons with DS who contract COVID-19 are at high risk for... (Review)
Review
INTRODUCTION
Down syndrome (DS) is associated with multiple comorbid conditions and chronic immune dysfunction. Persons with DS who contract COVID-19 are at high risk for complications and have a poor prognosis. We aimed to study the clinical symptoms, laboratory and biochemical profiles, radiologic findings, treatment, and outcomes of patients with DS and COVID-19.
METHOD
We systematically searched PubMed, MEDLINE, Web of Science, Scopus, and the Cochrane Library using the keywords COVID-19 or coronavirus or SARS-CoV-2 and DS or trisomy 21. Seventeen articles were identified: eight case reports and nine case series published from December 2019 through March 2022, with a total of 55 cases.
RESULTS
Patients averaged 24.8 years (26 days to 60 years); 29 of the patients were male. The most common symptoms were fever, dyspnea, and cough. Gastrointestinal and upper respiratory tract symptoms were commonly reported for pediatric patients. The most common comorbidities present in patients with DS were obesity (49.0%), hypothyroidism (21.6%) and obstructive sleep apnea (15.6%). The patients were hospitalized for a mean of 14.8 days. When the patients were compared with the general COVID-19 population, the mean number of hospitalized days was higher. Most patients had leukopenia, lymphopenia, and elevated inflammatory markers (d-dimer and C-reactive protein). Bilateral infiltrations and bilateral ground-glass opacifications were frequently seen in chest radiographs and chest computed tomographic imaging. Most of the patients were treated with methylprednisolone, macrolides, and hydroxychloroquine. Of the 55 patients, 22 died. The mean age of the patients who died was 42.8 years. Mortality rate was higher in individuals with DS over 40 years of age.
CONCLUSION
More studies are needed to better understand COVID-19 infections among persons with DS. In addition, the study was limited by a lack of statistical analyses and a specific comparison group.
Topics: Adult; Child; Female; Humans; Male; Middle Aged; Cough; COVID-19; Down Syndrome; Lymphopenia; SARS-CoV-2; Infant, Newborn; Infant; Child, Preschool; Adolescent; Young Adult
PubMed: 38501534
DOI: 10.1002/iid3.1219 -
Surgery For Obesity and Related... Aug 2023Obesity is the leading cause of morbidity and mortality in patients with Prader-Willi Syndrome (PWS). Our objective was to compare changes in body mass index (BMI) after... (Meta-Analysis)
Meta-Analysis
Obesity is the leading cause of morbidity and mortality in patients with Prader-Willi Syndrome (PWS). Our objective was to compare changes in body mass index (BMI) after metabolic and bariatric surgery (MBS) for the treatment of obesity (BMI ≥35 kg/m) in PWS. A systematic review of MBS in PWS was performed using PubMed, Embase, and Cochrane Central, identifying 254 citations. Sixty-seven patients from 22 articles met criteria for inclusion in the meta-analysis. Patients were organized into 3 groups: laparoscopic sleeve gastrectomy (LSG), gastric bypass (GB), and biliopancreatic diversion (BPD). No mortality within 1 year was reported in any of the 3 groups after a primary MBS operation. All groups experienced a significant decrease in BMI at 1 year with a mean reduction in BMI of 14.7 kg/m (P < .001). The LSG groups (n = 26) showed significant change from baseline in years 1, 2, and 3 (P value at year 3 = .002) but did not show significance in years 5, 7, and 10. The GB group (n = 10) showed a significant reduction in BMI of 12.1 kg/m in the first 2 years (P = .001). The BPD group (n = 28) had a significant reduction in BMI through 7 years with an average reduction of 10.7 kg/m (P = .02) at year 7. Individuals with PWS who underwent MBS had significant BMI reduction sustained in the LSG, GB, and BPD groups for 3, 2, and 7 years, respectively. No deaths within 1 year of these primary MBS operations were reported in this study or any other publication.
Topics: Humans; Bariatric Surgery; Biliopancreatic Diversion; Gastric Bypass; Obesity; Prader-Willi Syndrome; Body Mass Index
PubMed: 36872159
DOI: 10.1016/j.soard.2023.01.017 -
BMC Public Health Jul 2023The COVID-19 pandemic has exacerbated the psychological burden on young people around the world and may have disproportionately large impacts for young people with...
BACKGROUND
The COVID-19 pandemic has exacerbated the psychological burden on young people around the world and may have disproportionately large impacts for young people with disabilities. This review aims to systematically review the quantitative evidence on the impact of the COVID-19 pandemic on the mental health of young people with disabilities and evaluate the quality of included studies.
METHODS
A systematic search was conducted using 5 electronic databases. The quality of the studies was assessed using the SIGN risk of bias assessment tool. A narrative synthesis was performed to synthesize the results of included studies.
RESULTS
The initial search yielded 1935 studies, of which two met the eligibility criteria, one longitudinal study and one cross-sectional study, both assessed to be of low quality. In the cross-sectional study, young people with intellectual and developmental disabilities self-reported an increase in mental health symptoms. The longitudinal study found no evidence of a change in mental health symptoms from pre-pandemic to during the pandemic among young people with autism spectrum disorder, although these individuals reported negative impacts of the COVID-19 pandemic on their emotional or mental health.
CONCLUSIONS
The findings of this review provide some weak evidence of a negative impact of the COVID-19 pandemic on the mental health of young people with disabilities. Importantly, the findings highlight the lack of research in this area. More research is needed to investigate the impact of the pandemic on the mental health of young disabled people, in order for governments to develop emergency preparedness plans to safeguard the well-being of this population.
Topics: Humans; Adolescent; Mental Health; COVID-19; Pandemics; Autism Spectrum Disorder; Cross-Sectional Studies; Longitudinal Studies; Disabled Persons
PubMed: 37468866
DOI: 10.1186/s12889-023-16260-z -
Cancer Medicine May 2024People with intellectual disabilities (ID) face barriers in cancer care contributing to poorer oncological outcomes. Yet, understanding cancer risks in the ID population... (Review)
Review
BACKGROUND
People with intellectual disabilities (ID) face barriers in cancer care contributing to poorer oncological outcomes. Yet, understanding cancer risks in the ID population remains incomplete.
AIM
To provide an overview of cancer incidence and cancer risk assessments in the entire ID population as well as within ID-related disorders.
METHODS
This systematic review examined cancer risk in the entire ID population and ID-related disorders. We systematically searched PubMed (MEDLINE) and EMBASE for literature from January 1, 2000 to July 15, 2022 using a search strategy combining terms related to cancer, incidence, and ID.
RESULTS
We found 55 articles assessing cancer risks in the ID population at large groups or in subgroups with ID-related syndromes, indicating that overall cancer risk in the ID population is lower or comparable with that of the general population, while specific disorders (e.g., Down's syndrome) and certain genetic mutations may elevate the risk for particular cancers.
DISCUSSION
The heterogeneity within the ID population challenges precise cancer risk assessment at the population level. Nonetheless, within certain subgroups, such as individuals with specific ID-related disorders or certain genetic mutations, a more distinct pattern of varying cancer risks compared to the general population becomes apparent.
CONCLUSION
More awareness, and personalized approach in cancer screening within the ID population is necessary.
Topics: Humans; Intellectual Disability; Neoplasms; Risk Assessment; Incidence; Risk Factors; Early Detection of Cancer
PubMed: 38686623
DOI: 10.1002/cam4.7210 -
Behavioral Sciences (Basel, Switzerland) Apr 2024Children and adolescents with intellectual disabilities (ID) often encounter difficulties with narrative skills. Yet, there is a lack of research focusing on how to... (Review)
Review
Children and adolescents with intellectual disabilities (ID) often encounter difficulties with narrative skills. Yet, there is a lack of research focusing on how to assess these skills in this population. This study offers an overview of the tools used for assessing oral narrative skills in children and adolescents with ID, addressing key questions about common assessment tools, their characteristics, and reported evidence. A systematic review was conducted of the literature published between 2010 and 2023 in the PsycINFO, ERIC, Education, and Psychology databases. An initial 1176 studies were reviewed by abstract, of which 485 were read in full text, leading to the selection and analysis of 22 studies. Most of the identified tools involve analyzing language samples obtained using wordless picture story books. Three common tools are emphasized. Studies have primarily identified inter-rater reliability and test-criterion evidence for validity. The main tools and their characteristics are discussed in depth to aid readers in discerning suitable options for research or practical applications. The importance of reporting diverse sources of evidence for validity and reliability within this population is highlighted.
PubMed: 38667104
DOI: 10.3390/bs14040308