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Journal of Taibah University Medical... Feb 2019No standard protocol is available for the management of children with Down's syndrome (DS) and a functional single ventricle. This review attempts to determine the... (Review)
Review
OBJECTIVES
No standard protocol is available for the management of children with Down's syndrome (DS) and a functional single ventricle. This review attempts to determine the outcomes of the single ventricular surgical palliation pathway in high-risk children with DS.
METHODS
Several databases were searched using the following MeSH terms: 'Congenital heart disease', 'Atrioventricular septal defect', 'Balanced AVSD', 'Unbalanced AVSD', 'Down's syndrome', 'Univentricular repair', 'bidirectional Glenn procedure', and 'Fontan procedure'. A structured algorithm was used for the selection of studies for an in-depth analysis.
RESULTS
There was no universal agreement on the best surgical approach for unbalanced atrioventricular septal defect in DS. The majority of paediatric cardiac surgeons did not recommend the complete Fontan procedure; conversely, the use of a Glenn shunt (superior cavopulmonary connection) was preferred.
CONCLUSIONS
Careful assessment of the suitability for Fontan surgery, including the absence of elevated pulmonary vascular resistance, pulmonary arterial anatomy, and function of the dominant ventricle, is mandatory. A staged surgical procedure ending with complete Fontan repair provides acceptable medium-term results.
PubMed: 31435384
DOI: 10.1016/j.jtumed.2018.10.006 -
BMC Public Health Feb 2024The aim of the study was to identify the variables of the internal compensatory mechanisms that differentiate the body build and posture of people with Down syndrome...
BACKGROUND
The aim of the study was to identify the variables of the internal compensatory mechanisms that differentiate the body build and posture of people with Down syndrome (DS) from the intellectual disability (ID) population. It was assumed that gaining knowledge in the abovementioned aspect will allow for a better understanding of the limitation of the kinesthetic abilities of people with ID and DS and simultaneously enable to optimize the process of planning and interventions to improve physical activity in this population with the adequate use of theirs strengths in the biomechanical and morphofunctional systems.
METHODS
The methodology of this systematic review was developed according to the PRISMA guidelines. A search of PubMed, EBSCO, Scopus databases was conducted to identify all studies on DS/ID and the body build and posture from 2003 to 2023.
RESULTS
395 articles were assessed to determine eligibility, while 22 studies met the inclusion criteria and were subjected to detailed analysis and assessment of their methodological quality. The differentiation of the body build and posture in DS population can be induced by both internal and external compensatory mechanisms. It is difficult to confirm the direct effect of the intrinsic variables that impact the body build and posture in the ID population, excluding people with DS.
CONCLUSIONS
Compared to other ID, the intrinsic differences in the body build and posture in DS individuals were induced by gender, age, and level of ID. The tendency for diversity between DS and other ID populations in body build and posture may be determined by the presence of the third copy of chromosome 21 in DS group. Internal compensatory processes may be induced mainly by abnormalities in the structure of the cervical vertebrae and feet. IQ should not be used as the only variable that identifies the population of people with ID.
Topics: Humans; Down Syndrome; Intellectual Disability; Somatotypes; Exercise; Posture
PubMed: 38326795
DOI: 10.1186/s12889-024-17908-0 -
Journal of Neurology Apr 2017People with Down's syndrome (DS) are at high risk for developing Alzheimer's disease (AD) at a relatively young age. This increased risk is not observed in people with... (Review)
Review
People with Down's syndrome (DS) are at high risk for developing Alzheimer's disease (AD) at a relatively young age. This increased risk is not observed in people with intellectual disabilities for reasons other than DS and for this reason it is unlikely to be due to non-specific effects of having a neurodevelopmental disorder but, instead, a direct consequence of the genetics of DS (trisomy 21). Given the location of the amyloid precursor protein (APP) gene on chromosome 21, the amyloid cascade hypothesis is the dominant theory accounting for this risk, with other genetic and environmental factors modifying the age of onset and the course of the disease. Several potential therapies targeting the amyloid pathway and aiming to modify the course of AD are currently being investigated, which may also be useful for treating AD in DS. However, given that the neuropathology associated with AD starts many years before dementia manifests, any preventative treatment must start well before the onset of symptoms. To enable trials of such interventions, plasma, CSF, brain, and retinal biomarkers are being studied as proxy early diagnostic and outcome measures for AD. In this systematic review, we consider the prospects for the development of potential preventative treatments of AD in the DS population and their evaluation.
Topics: Adult; Alzheimer Disease; Down Syndrome; Humans
PubMed: 27778163
DOI: 10.1007/s00415-016-8308-8 -
The Cochrane Database of Systematic... Jun 2016Restless legs syndrome (RLS) is a distressing and common neurological disorder that may have a huge impact in the quality of life of those with frequent and intense... (Review)
Review
BACKGROUND
Restless legs syndrome (RLS) is a distressing and common neurological disorder that may have a huge impact in the quality of life of those with frequent and intense symptoms. Patients complain of unpleasant sensations in the legs, at or before bedtime, and feel an urge to move the legs, which improves with movement, such as walking. Symptoms start with the patient at rest (e.g. sitting or lying down), and follow a circadian pattern, increasing during the evening or at night. Many pharmacological intervention are available for RLS, including drugs used to treat Parkinson's disease (L-Dopa and dopaminergic agonists), epilepsy (anticonvulsants), anxiety (benzodiazepines), and pain (opioids). Dopaminergic drugs are those most frequently used for treatment of RLS, but some patients do not respond effectively and require other medication. Opioids, a class of medications used to treat severe pain, seem to be effective in treating RLS symptoms, and are recommended for patients with severe symptoms, because RLS and pain appear to share the same mechanism in the central nervous system. All available drugs are associated to some degree with side effects, which can impede treatment. Opioids are associated with adverse events such as constipation, tolerance, and dependence. This justifies the conduct of a systematic review to ascertain whether opioids are safe and effective for treatment of RLS.
OBJECTIVES
To asses the effects of opioids compared to placebo treatment for restless legs syndrome in adults.
SEARCH METHODS
We searched the Cochrane Central Register of Controlled trials, CENTRAL 2016, issue 4 and MEDLINE, EMBASE, and LILACS up to April 2016, using a search strategy adapted by Cochraneto identify randomised clinical trials. We checked the references of each study and established personal communication with other authors to identify any additional studies. We considered publications in all languages.
SELECTION CRITERIA
Randomised controlled clinical trials of opioid treatment in adults with idiopathic RLS.
DATA COLLECTION AND ANALYSIS
Two review authors independently screened articles, independently extracted data into a standard form, and assessed for risk of bias. If necessary, they discussed discrepancies with a third researcher to resolve any doubts.
MAIN RESULTS
We included one randomised clinical trial (N = 304 randomised; 204 completed; 276 analysed) that evaluated opioids (prolonged release oxycodone/naloxone) versus placebo. After 12 weeks, RSL symptoms had improved more in the drug group than in the placebo group (using the IRLSSS: MD -7.0; 95% CI -9.69 to -4.31 and the CGI: MD -1.11; 95% CI -1.49 to -0.73). More patients in the drug group than in the placebo group were drug responders (using the IRLSSS: RR 1.82; 95% CI 1.37 to 2.42 and the CGI: RR1.92; 95% ICI 1.49 to 2.48). The proportion of remitters was greater in the drug group than in the placebo group (using the IRLSSS: RR 2.14; 95% CI 1.45 to 3.16). Quality of life scores also improved more in the drug group than in the placebo group (MD -0.73; 95% CI -1.1 to -0.36). Quality of sleep was improved more in the drug group measured by sleep adequacy (MD -0.74; 95% CI -1.15 to -0.33), and sleep quantity (MD 0.89; 95% CI 0.52 to 1.26).There was no difference between groups for daytime somnolence, trouble staying awake during the day, or naps during the day. More adverse events were reported in the drug group (RR 1.22; 95% CI 1.07 to 1.39). The major adverse events were gastrointestinal problems, fatigue, and headache.
AUTHORS' CONCLUSIONS
Opioids seem to be effective for treating RLS symptoms, but there are no definitive data regarding the important problem of safety. This conclusion is based on only one study with a high dropout rate (moderate quality evidence).
Topics: Analgesics, Opioid; Disorders of Excessive Somnolence; Humans; Naloxone; Oxycodone; Randomized Controlled Trials as Topic; Restless Legs Syndrome
PubMed: 27355187
DOI: 10.1002/14651858.CD006941.pub2 -
Medicine Jul 2020Down syndrome (DS) also known as Trisomy 21, is a chromosomal disorder affecting approximately 1 in 732newborns annually in the United States. Children with DS are more... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Down syndrome (DS) also known as Trisomy 21, is a chromosomal disorder affecting approximately 1 in 732newborns annually in the United States. Children with DS are more likely to develop acute lymphoblastic leukemia (ALL). For the management of pediatric ALL, different treatment protocols have been set up since years. However, ALL children with coexisting DS have shown to have increased therapy-related toxicities compared to those without DS. Therefore, in this study, we aimed to systematically analyze the treatment outcomes in acute ALL children with versus without coexisting DS.
METHODS
Electronic databases including the Web of Science, EMBASE, Cochrane Central, MEDLINE, http://www.ClinicalTrials.gov, and Google scholar were searched for publications reporting treatment related outcomes in ALL children with versus without co-existing DS. Several treatment protocols were used accordingly. This study had a long-term follow-up time period ranging from 5 to 10 years. The RevMan 5.3 software was used to carry out this analysis. Odds ratios (OR) with 95% confidence intervals (CI) were used to represent the results post analysis.
RESULTS
A total number of 31,476 children with ALL enrolled between the years 1981 and 2011 were included. Among the total number of children with ALL, 1303 had coexisting DS. Our results showed that event-free survival was similar in ALL children with versus without DS (odds ratio [OR]: 1.34, 95% confidence interval [CI]: 0.51-3.50; P = .55). Overall mortality (OR: 1.63, 95% CI: 0.86-3.10; P = .13) and participants who achieved clinical remission (OR: 1.04, 95% CI: 0.12-9.29; P = .97) were also similarly manifested. However, treatment-related mortality (OR: 4.29, 95% CI: 2.90-6.36; P = .00001) and induction failure (OR: 2.77, 95% CI: 1.08-7.07; P = .03) were significantly higher in the DS group. Also, total (OR: 1.38, 95% CI: 1.02-1.88; P = .04) and bone marrow relapses (OR: 1.29, 95% CI: 1.00-1.67; P = .05) were significantly higher in ALL children with DS. Nevertheless, central nervous system relapse (OR: 1.15, 95% CI: 0.60-2.20; P = .67), testicular relapse (OR: 0.84, 95% CI: 0.38-1.85; P = .87), and other relapses (OR: 1.12, 95% CI: 0.27-4.62; P = .88) were not significantly different when these outcomes were separately analyzed.
CONCLUSION
Based on this analysis of the treatment outcomes in ALL children with versus without DS, event-free survival, overall mortality, and patients who achieved clinical remission were similar during this long-term follow-up time period. However, due to the significantly higher treatment-related mortality, induction failure, and certain relapses in ALL children with DS, new guidelines might have to focus on reconsidering or modifying treatment regimens for ALL children with DS.
Topics: Antineoplastic Combined Chemotherapy Protocols; Down Syndrome; Humans; Neoplasm Recurrence, Local; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Remission Induction; Treatment Failure
PubMed: 32702842
DOI: 10.1097/MD.0000000000021015 -
Pediatric Neurology Jan 2023Hypotonia is considered a determinant factor in multiple developmental disorders and is associated with various characteristics and morbidities. It is necessary to... (Review)
Review
BACKGROUND
Hypotonia is considered a determinant factor in multiple developmental disorders and is associated with various characteristics and morbidities. It is necessary to perform a systematic review to know which characteristics are described as associated with hypotonia in children and which methods are used for its diagnosis.
METHODS
Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines were used to develop the systematic review protocol. A search of databases (Pubmed, Cochrane, Web of Knowledge, among others) was performed in May 2021 to identify relevant studies. Those describing characteristics or tests of hypotonia assessment were included, excluding those that exclusively addressed peripheral hypotonia. Two reviewers evaluated the articles and collected the data in a table, noting the authors, date of publication, type of study, and characteristics or tests described in relation to hypotonia. The quality of the studies was also assessed, and data were extracted.
RESULTS
A total of 8778 studies were identified and analyzed, of which 45 met the inclusion criteria. Fifty-three characteristics associated with hypotonia and tests used for its evaluation were located, with pull to sit and vertical suspension being the most frequently referenced.
CONCLUSIONS
The characteristics associated with hypotonia, more highly debated by authors are muscle strength, hypermobility, or the maintenance of antigravity postures. The most used test in the diagnosis of hypotonia is observation, followed by the pull-to-sit test, and adoption of frog posture. A unanimous understanding of the term hypotonia would favor further research.
Topics: Child; Humans; Muscle Hypotonia; Databases, Genetic; Knowledge
PubMed: 36446164
DOI: 10.1016/j.pediatrneurol.2022.11.001 -
Neuroscience and Biobehavioral Reviews Jul 2022Individuals with syndromic intellectual disability are at increased risk of experiencing anxiety. Comparing prevalence estimates of anxiety will allow the identification... (Meta-Analysis)
Meta-Analysis Review
Individuals with syndromic intellectual disability are at increased risk of experiencing anxiety. Comparing prevalence estimates of anxiety will allow the identification of at-risk groups and inform causal pathways of anxiety. No known study has explored estimates of anxiety symptomatology and diagnosis, including specific anxiety profiles, across groups whilst accounting for methodological quality of studies. This systematic review and meta-analysis aimed to fill this gap. Prior to review completion, methodology and analysis plans were registered and documented in a protocol (CRD42019123561). Data from 83 papers, involving a pooled sample of 13,708 across eight syndromes were synthesised using a random effects model. Anxiety prevalence ranged from 9 % (95 % CI: 4-14) in Down syndrome to 73% in Rett syndrome (95 % CI: 70-77). Anxiety prevalence across syndromic intellectual disability was higher than for intellectual disability of mixed aetiology and general population estimates. Substantial variability between syndromes identified groups at higher risk than others. The identification of high-risk groups is crucial for early intervention, allowing us to refine models of risk and identify divergent profiles.
Topics: Anxiety; Anxiety Disorders; Down Syndrome; Humans; Intellectual Disability; Prevalence
PubMed: 35661754
DOI: 10.1016/j.neubiorev.2022.104719 -
Health Informatics Journal Dec 2018In this work, the authors present two eHealth platforms that are examples of how health systems are migrating from client-server architecture to the web-based and...
In this work, the authors present two eHealth platforms that are examples of how health systems are migrating from client-server architecture to the web-based and ubiquitous paradigm. These two platforms were modeled, designed, developed and implemented with positive results. First, using ambient-assisted living and ubiquitous computing, the authors enhance how palliative care is being provided to the elderly patients and patients with terminal illness, making the work of doctors, nurses and other health actors easier. Second, applying machine learning methods and a data-centered, ubiquitous, patient's results' repository, the authors intent to improve the Down's syndrome risk estimation process with more accurate predictions based on local woman patients' parameters. These two eHealth platforms can improve the quality of life, not only physically but also psychologically, of the patients and their families in the country of Panama.
Topics: Aging; Assisted Living Facilities; Down Syndrome; Electronic Health Records; Humans; Models, Statistical; Palliative Care; Panama; Quality of Life; Risk Factors; Telemedicine; Web Browser
PubMed: 27770054
DOI: 10.1177/1460458216671560 -
Cureus Mar 2024Mental health problems among children and adolescents are a significant global public health concern, with a prevalence of approximately 10-20%. Psychotropic... (Review)
Review
Mental health problems among children and adolescents are a significant global public health concern, with a prevalence of approximately 10-20%. Psychotropic medications, including stimulants, antipsychotics, antidepressants, and mood stabilizers, have been proven effective in treating various psychiatric disorders among children and adolescents. Despite the common use of these medications, they have various side effects and complications. This systematic review aimed to assess the trends and prevalence of psychotropic medication use among children and adolescents from 2013 to 2023. A comprehensive literature search was conducted in PubMed, Web of Science, Ovid, Scopus, and Cochrane databases using relevant keywords. Two independent researchers screened the studies for inclusion and exclusion criteria. Data were extracted using a Microsoft Excel spreadsheet (Microsoft Corporation, Redmond, WA), including information on study characteristics, participant demographics, psychiatric disorders, and psychotropic medications. The risk of bias assessment was performed using the ROBINS-I (Risk of Bias in Non-randomized Studies of Interventions) tool for non-randomized studies of interventions (NRSI) and Risk of Bias 2 (ROB2) for the randomized clinical trial. Data synthesis was conducted through a qualitative interpretation of the findings. A total of 52 papers were identified through the search, with 37 remaining after duplicate removal. After applying the inclusion and exclusion criteria, nine articles were considered suitable for the systematic review. A total of 9,034,109 patients suffered from several psychiatric diseases, such as autism, major depressive disorder, Down syndrome, attention-deficit/hyperactivity disorder, adjustment disorder, anxiety, bipolar disorder, conduct disorder, depression, personality disorder, psychotic disorder, tic disorder, pervasive developmental disorder, and disruptive behavior disorder. Stimulants showed a consistent prevalence rate over the years. Antidepressants, including selective serotonin reuptake inhibitors, have demonstrated variations over the years, with a substantial increase in 2015, followed by a decrease in subsequent years. In addition, antipsychotics, including atypical antipsychotics, have varied over the years; however, their use increased in 2023. Anticonvulsants and anxiolytics were also utilized, albeit at lower prevalence rates. This systematic review provides an overview of the trends and prevalence of psychotropic medication use among children and adolescents from 2013 to 2023. The prevalence of antipsychotic prescribing has shown fluctuations among different countries over the years, with a decline in recent years but a slight increase in 2023. Further research is warranted to explore the factors influencing these trends and to assess the long-term effectiveness and safety of psychotropic medications in children and adolescents.
PubMed: 38571846
DOI: 10.7759/cureus.55452 -
International Journal of Environmental... Nov 2022Due to the increase in the population with special needs and the significant difficulty in their dental management, it is essential to analyze the caries prevalence in... (Review)
Review
Due to the increase in the population with special needs and the significant difficulty in their dental management, it is essential to analyze the caries prevalence in this group of patients. The systematic review was conducted following the PRISMA statement. A search was performed on 9 May 2022 and updated on 5 June 2022, in three databases: Pubmed, Scielo, and Cochrane library. Studies involving the analysis of caries in permanent teeth in patients with special needs were included. A total of 1277 studies were analyzed and 21 studies were selected. Quality assessments were performed using an adapted version of the STROBE guidelines. Among the analyzed groups (intellectual disabilities, human immunodeficiency virus infection, schizophrenia, down syndrome, drug addicts, adult heart transplant, kidney disease, diabetic, autism, psychiatric patients, cerebral palsy, and hemophilia), the highest prevalence of caries was observed in patients with intellectual disability, without differences between genders. However, there is a need for more studies with standardized methods for caries diagnosis to further investigate the prevalence of caries in permanent teeth in patients with special needs.
Topics: Humans; Female; Male; Dentition, Permanent; Prevalence; Dental Caries Susceptibility; Intellectual Disability; Cerebral Palsy
PubMed: 36429911
DOI: 10.3390/ijerph192215194