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Frontiers in Endocrinology 2023Prader-Willi syndrome (PWS) is a rare, complex, genetic disorder characterized by hyperphagia, hypotonia, delayed psychomotor development, low muscle mass and...
BACKGROUND
Prader-Willi syndrome (PWS) is a rare, complex, genetic disorder characterized by hyperphagia, hypotonia, delayed psychomotor development, low muscle mass and hypothalamic dysfunction. Adults with PWS often have obesity, hypertension and type 2 diabetes mellitus (DM2), known risk factors for cardiovascular disease (CVD) and chronic kidney disease (CKD). Early symptoms of CVD and CKD may be masked by intellectual disability and inability to express physical complaints. Furthermore, kidney diseases are often asymptomatic. Therefore, renal and cardiovascular disease might be missed in patients with PWS. Microalbuminuria is an early sign of microvascular damage in the kidneys and other vascular beds. Therefore, we screened our adult PWS cohort for the presence of elevated urinary albumin and (micro)albuminuria.
METHODS
We retrospectively collected anthropometric measurements, blood pressure, medical history, medication use, urine dipstick and biochemical measurements form electronic patient files. In addition, we performed a systematic literature review on kidney disease in PWS.
RESULTS
We included 162 adults with genetically confirmed PWS (56% male, median age 28 years), of whom 44 (27%) had DM2. None had known CVD. All subjects had normal estimated glomerular filtration rate (eGFR) according to non-PWS reference intervals. Elevated urinary albumin or (micro)albuminuria was present in 28 (18%); 19 out of 75 (25%) had an increased urinary albumin-to-creatinine ratio (UACR) and 10 out of 57 (18%) had an increased urinary protein-to-creatinine ratio. Elevated urinary albumin was present at a young age (median age 26 (IQR 24-32) years) and was associated with an significantly higher BMI and LDL-cholesterol levels and higher prevalence of DM2, hypertension and dyslipidemia than those with normal UACR (=0.027, =0.019, <0.001, <0.001, =0.011 and respectively).
CONCLUSION
Upon screening, one in every five adults with PWS had increased urinary albumin or (micro)albuminuria, early signs of microvascular disease. All had normal eGFR, according to non-PWS reference intervals, and none had a formal diagnosis of CVD. As muscle mass is low in PWS, creatinine levels and eGFR may be spuriously normal. Urinalysis in this patient group can be used as a screening tool for microvascular (kidney) disease. We propose an algorithm for the detection and management of microvascular disease in adults with PWS.
Topics: Humans; Adult; Male; Young Adult; Female; Cohort Studies; Prader-Willi Syndrome; Diabetes Mellitus, Type 2; Retrospective Studies; Creatinine; Albuminuria; Hypertension; Cardiovascular Diseases; Renal Insufficiency, Chronic; Albumins
PubMed: 37547314
DOI: 10.3389/fendo.2023.1168648 -
Pharmacology, Biochemistry, and Behavior Sep 2023Cannabis-derived compounds, such as cannabidiol (CBD) and delta-9-trans-tetrahydrocannabinol (THC), are increasingly prescribed for a range of clinical indications.... (Review)
Review
Cannabis-derived compounds, such as cannabidiol (CBD) and delta-9-trans-tetrahydrocannabinol (THC), are increasingly prescribed for a range of clinical indications. These phyto-cannabinoids have multiple biological targets, including the body's endocannabinoid system. There is growing scientific interest in the use of CBD, a non-intoxicating compound, to ameliorate symptoms associated with neurodevelopmental disorders. However, its suitability as a pharmaceutical intervention has not been reliably established in these clinical populations. This systematic review examines the nine published randomised controlled trials (RCTs) that have probed the safety and efficacy of CBD in individuals diagnosed with attention deficit hyperactivity disorder, autism spectrum disorder, intellectual disability, Tourette Syndrome, and complex motor disorders. Studies were identified systematically through searching four databases: Medline, CINAHL complete, PsycINFO, and EMBASE. Inclusion criteria were randomised controlled trials involving CBD and participants with neurodevelopmental disorders. No publication year or language restrictions were applied. Relevant data were extracted from the identified list of eligible articles. After extraction, data were cross-checked between the authors to ensure consistency. Several trials indicate potential efficacy, although this possibility is currently too inconsistent across RCTs to confidently guide clinical usage. Study characteristics, treatment properties, and outcomes varied greatly across the included trials. The material lack of comparable RCTs leaves CBD's suitability as a pharmacological treatment for neurodevelopmental disorders largely undetermined. A stronger evidence base is urgently required to establish safety and efficacy profiles and guide the ever-expanding clinical uptake of cannabis-derived compounds in neurodevelopmental disorders. Prospero registration number: CRD42021267839.
Topics: Humans; Cannabidiol; Cannabinoids; Cannabis; Hallucinogens; Attention Deficit Disorder with Hyperactivity; Dronabinol; Randomized Controlled Trials as Topic
PubMed: 37543051
DOI: 10.1016/j.pbb.2023.173607 -
Public Health Sep 2023To undertake a systematic review and meta-analysis to estimate the relative risk of COVID-19-related mortality among people with disabilities compared to people without... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES
To undertake a systematic review and meta-analysis to estimate the relative risk of COVID-19-related mortality among people with disabilities compared to people without disabilities.
STUDY DESIGN
Systematic review and meta-analysis.
METHODS
We systematically searched four databases from March 1, 2020, to August 15, 2022. We included prospective studies with a baseline assessment of disability and a longitudinal assessment of the COVID-19-related mortality. Two reviewers independently assessed study eligibility, extracted data, and assessed risk of bias. We undertook random-effects meta-analyses to calculate pooled adjusted hazard ratios for COVID-19-related mortality for people with disabilities, also disaggregated by disability type and study setting.
RESULTS
We identified 2596 articles throughout the electronic data search, and 56 studies were included in the review. Most (73%) had a moderate risk of bias. The pooled adjusted effect estimate for COVID-19-related mortality in people with disabilities compared to those without was 2.7 (95% confidence interval [CI]: 2.4-3.2). Heterogeneity between the studies was high (τ = 0.28, I = 97%). Effect estimates were highest for population-based samples (3.3, 95% CI: 2.7-3.9), compared to hospital settings (2.1, 95% CI: 1.7-2.7). Risk was not elevated among people with disabilities in care home settings (1.6, 95% CI: 0.7-3.5). Disaggregation by disability type showed that people with intellectual disabilities were at the highest relative risk of COVID-19 mortality.
DISCUSSION
Risk of COVID-19 mortality is elevated among people with disabilities, especially people with intellectual disabilities. Efforts are needed to collect better routine data on disability and to include people with disabilities in the pandemic response for COVID-19.
Topics: Humans; COVID-19; Intellectual Disability; Prospective Studies; Disabled Persons; Bias
PubMed: 37541064
DOI: 10.1016/j.puhe.2023.06.032 -
Healthcare (Basel, Switzerland) Jul 2023This study aims to systematize effects of cardiorespiratory training (CT) programs in individuals with intellectual disability (ID) and identifying the fundamental and... (Review)
Review
This study aims to systematize effects of cardiorespiratory training (CT) programs in individuals with intellectual disability (ID) and identifying the fundamental and structuring aspects for the prescription of CT. This systematic review was carried out through four databases (Pubmed, Web of Science, Scopus, and SPORTDiscus), considering data from the period between 2013 and 2022. From 257 studies, 12 studies were included in this systematic review. Three studies used interval CT, while seven used continuous CT. Seven were carried out in the population with Down syndrome, while only three were carried out with participants with ID. The CT programs had the following characteristics: duration of 8 to 12 weeks, weekly frequency of three sessions, for 20 to 60 min, the intensity of 50% to 80% of maximal heart rate or 70% to 80% of peak oxygen consumption, using an ergometer cycle or an outdoor walking. The studies reported improvements in cardiorespiratory function, lipid, hemodynamic and metabolic profile, body composition, and neuromuscular and cognitive capacity. This review presents characteristics and recommendations that technicians can follow when structuring, prescribing, and implementing CT programs to individuals with ID.
PubMed: 37510547
DOI: 10.3390/healthcare11142106 -
Molecular Autism Jul 2023Septo-optic dysplasia (SOD) is a rare condition diagnosed in children with two or more of the following: hypopituitarism, midline brain abnormalities, and optic nerve... (Review)
Review
BACKGROUND
Septo-optic dysplasia (SOD) is a rare condition diagnosed in children with two or more of the following: hypopituitarism, midline brain abnormalities, and optic nerve hypoplasia. Children with SOD experience varied visual impairment and endocrine dysfunction. Autistic-like behaviours have been reported; however, their nature and prevalence remain to be fully understood. The present systematic review aimed to explore the type and prevalence of neurodevelopmental impairments in children with SOD spectrum conditions.
METHODS
The search was conducted in PubMed, EMBASE, and PsycInfo. Hand-searching reference lists of included studies was conducted. All peer-reviewed, observational studies assessing behavioural and cognitive impairments or autism spectrum disorder (ASD) symptoms in children (< 18 years) with SOD, optic nerve hypoplasia, and SOD-plus were included. Studies were excluded if they did not report standardised measures of neurodevelopmental impairments or ASD outcomes.
RESULTS
From 2132 screened articles, 20 articles reporting data from a total of 479 children were included in prevalence estimates. Of 14 studies assessing cognitive-developmental outcomes, 175 of 336 (52%) children presented with intellectual disability or developmental delay. A diagnosis of ASD or clinical level of symptoms was observed in 65 of 187 (35%) children across five studies. Only five studies assessed for dysfunction across behavioural, emotional, or social domains and reported impairments in 88 of 184 (48%) of children assessed.
LIMITATIONS
Importantly, high heterogeneity among the samples in relation to their neuroanatomical, endocrine, and optic nerve involvement meant that it was not possible to statistically assess the relative contribution of these confounding factors to the specific neurodevelopmental phenotype. This was further limited by the variation in study designs and behavioural assessments used across the included studies, which may have increased the risk of information bias.
CONCLUSIONS
This systematic review suggests that the prevalence of neurodevelopmental impairments in children within the SOD spectrum may be high. Clinicians should therefore consider including formal assessments of ASD symptoms and neurodevelopmental impairments alongside routine care. There is, additionally, a need for further research to define and validate a standardised battery of tools that accurately identify neurodevelopmental impairments in SOD spectrum conditions, and for research to identify the likely causal mechanisms.
Topics: Humans; Septo-Optic Dysplasia; Autism Spectrum Disorder; Optic Nerve Hypoplasia; Hypopituitarism; Autistic Disorder
PubMed: 37491272
DOI: 10.1186/s13229-023-00559-0 -
Epidemiology and Psychiatric Sciences Jul 2023This study aimed to summarize the evidence on sleep alterations in medication-naïve children and adolescents with autism spectrum disorder (ASD). (Meta-Analysis)
Meta-Analysis
AIMS
This study aimed to summarize the evidence on sleep alterations in medication-naïve children and adolescents with autism spectrum disorder (ASD).
METHODS
We systematically searched PubMed/Medline, Embase and Web of Science databases from inception through March 22, 2021. This study was registered with PROSPERO (CRD42021243881). Any observational study was included that enrolled medication-naïve children and adolescents with ASD and compared objective (actigraphy and polysomnography) or subjective sleep parameters with typically developing (TD) counterparts. We extracted relevant data such as the study design and outcome measures. The methodological quality was assessed through the Newcastle-Ottawa Scale (NOS). A meta-analysis was carried out using the random-effects model by pooling effect sizes as Hedges' . To assess publication bias, Egger's test and -curve analysis were done. A priori planned meta-regression and subgroup analysis were also performed to identify potential moderators.
RESULTS
Out of 4277 retrieved references, 16 studies were eligible with 981 ASD patients and 1220 TD individuals. The analysis of objective measures showed that medication-naïve ASD patients had significantly longer sleep latency (Hedges' 0.59; 95% confidence interval [95% CI] 0.26 to 0.92), reduced sleep efficiency (Hedges' -0.58; 95% CI -0.87 to -0.28), time in bed (Hedges' -0.64; 95% CI -1.02 to -0.26) and total sleep time (Hedges' -0.64; 95% CI -1.01 to -0.27). The analysis of subjective measures showed that they had more problems in daytime sleepiness (Hedges' 0.48; 95% CI 0.26 to 0.71), sleep latency (Hedges' 1.15; 95% CI 0.72 to 1.58), initiating and maintaining sleep (Hedges' 0.86; 95% CI 0.39 to 1.33) and sleep hyperhidrosis (Hedges' 0.48; 95% CI 0.29 to 0.66). Potential publication bias was detected for sleep latency, sleep period time and total sleep time measured by polysomnography. Some sleep alterations were moderated by age, sex and concurrent intellectual disability. The median NOS score was 8 (interquartile range 7.25-8.75).
CONCLUSION
We found that medication-naïve children and adolescents with ASD presented significantly more subjective and objective sleep alterations compared to TD and identified possible moderators of these differences. Future research requires an analysis of how these sleep alterations are linked to core symptom severity and comorbid behavioural problems, which would provide an integrated therapeutic intervention for ASD. However, our results should be interpreted in light of the potential publication bias.
Topics: Humans; Child; Adolescent; Autism Spectrum Disorder; Sleep; Comorbidity; Outcome Assessment, Health Care; Observational Studies as Topic
PubMed: 37469173
DOI: 10.1017/S2045796023000574 -
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 -
Sleep Medicine Reviews Oct 2023The purpose of this systematic review and meta-analysis is to delineate the concordance of objective and subjective measures of sleep in children with neurodevelopmental... (Review)
Review
The purpose of this systematic review and meta-analysis is to delineate the concordance of objective and subjective measures of sleep in children with neurodevelopmental conditions (NDCs). A systematic literature search identified 31 studies that compare objective and subjective estimates of sleep parameters in autism, ADHD or rare genetic syndromes associated with intellectual disability. The meta-analyses revealed smaller mean differences and larger correlations indicative of greater concordance for parameters associated with sleep scheduling compared to parameters associated with sleep duration and night awakenings. Relative to objective measures, subjective measures produced: 1) greater estimates of total sleep time, sleep efficiency and time in bed; and 2) lower estimates of wake after sleep onset and number of night awakenings. Subgroup analyses also revealed differences in concordance between measurement comparison types (e.g., stronger correlations between actigraphy and sleep diaries, compared to actigraphy and questionnaires) and NDC diagnostic groups. The results predominantly replicate concordance trends observed in typically-developing samples, although some NDC-specific patterns of concordance were identified. This indicates that objective and subjective sleep measures retain broadly similar properties across populations, although researchers and clinicians should be cautious of the impact of NDC-related characteristics on sleep parameter estimates. These findings should inform sleep assessment design and the interpretation of sleep parameter estimates in NDCs, increasing the rigour of sleep parameter description across research and clinical settings.
PubMed: 37422998
DOI: 10.1016/j.smrv.2023.101814 -
Journal of Occupational Rehabilitation Mar 2024The level of participation of people with intellectual disabilities (ID) in various forms of work, including daytime activities, appears to be suboptimal. Informal...
PURPOSE
The level of participation of people with intellectual disabilities (ID) in various forms of work, including daytime activities, appears to be suboptimal. Informal networks of people with ID constitute crucial forms of support, as they can significantly influence occupational choices and opportunities. This review aims to synthesize existing research for the purpose of examining how informal network members perceive the meaning of employment or daytime activities for their relatives with ID.
METHODS
Following the PRISMA guideline, a systematic search of scientific literature published between 1990 and July 2022 was conducted. The qualitative results from twenty-seven studies (qualitative and mixed-method) were analyzed using thematic synthesis.
RESULTS
Four overarching themes and several subthemes were identified: (I) Ensuring customized work for my relative; (II) The ongoing need to collaborate and share care responsibilities with professionals; (III) The meaning of work for both my relative and myself; and (IV) Achieving full work participation for my relative is neither straightforward nor self-evident.
CONCLUSIONS
Informal networks place great value upon customized and sustainable work opportunities for their relatives with ID, particularly community-based work. While network members play an important role in creating these opportunities, they encounter obstacles resulting from both collaboration difficulties with professionals and employers and public and structural forms of stigma. Researchers, professionals, policy makers, and employers are encouraged to collaborate with individuals with ID as well as their networks to increase the meaningful work opportunities available to them.
Topics: Humans; Intellectual Disability; Employment; Social Stigma
PubMed: 37421467
DOI: 10.1007/s10926-023-10128-0 -
HRB Open Research 2022Older adults with intellectual disability are exposed to a higher anticholinergic burden compared to general older adults. This is due to a higher rate of both mental...
Older adults with intellectual disability are exposed to a higher anticholinergic burden compared to general older adults. This is due to a higher rate of both mental and neurological disorders among people with intellectual disability. The use of medications with a high anticholinergic burden is associated with adverse effects including daytime dozing, constipation and higher dependence level in the Barthel index for measuring activities of daily living. This scoping review aims to map and examine the existing research on physical and cognitive adverse effects associated with the long-term impact of anticholinergics among people with intellectual disabilities. The search was conducted in: PubMed, Cochrane library, EMBASE, Medline, Science Direct, CINAHL Complete and PsycINFO. Preliminary studies, grey literature, and conference papers were searched in related electronic databases. The search terms included terms related to 'anticholinergic', 'long-term exposure', 'intellectual disability' and 'adverse drug reaction' with Boolean operator 'and'. Studies with at least three months' exposure to anticholinergics were included. The search was restricted to research papers on people with intellectual disability aged 40 or over and publication in the English language only. Initially, it was conducted in May and June 2021 and covered the publication period between 1970 and 2021. It was re-run in October 2021. The conducted search provided 509 records of publications and grey literature. Duplicates were removed using EndNote 20 and resulted in 432 remaining records. Then, 426 further records were excluded because they were deemed irrelevant, or non-longitudinal studies or conducted on different populations. Only six full articles were retrieved to assess their eligibility and all were excluded due to different study populations. This resulted in no studies meeting the stated inclusion criteria. Further research is urgently required to examine the long-term adverse effects associated with higher anticholinergic scores among older people with intellectual disability.
PubMed: 37396688
DOI: 10.12688/hrbopenres.13599.1