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BMC Pediatrics Mar 2024Rett syndrome is a rare genetic neurodevelopmental disorder that predominantly impacts females. It presents with loss of acquired skills, impaired communication, and... (Meta-Analysis)
Meta-Analysis
INTRODUCTION
Rett syndrome is a rare genetic neurodevelopmental disorder that predominantly impacts females. It presents with loss of acquired skills, impaired communication, and stereotypic hand movements. Given the limited treatment options for Rett syndrome, there is a dire need for effective interventions.
OBJECTIVE
To evaluate the safety and efficacy of trofinetide in Randomized Controlled Trials (RCTs) that report on Rett syndrome patients.
METHODS
We identified 109 articles from four databases (Scopus, PubMed, Web of Science, and Cochrane CENTRAL). After removing the duplicates, we narrowed them down to 59 articles for further assessment. We included RCTs that evaluated the efficacy and safety of trofinetide in patients with Rett syndrome. Three studies were eligible for inclusion. Two independent reviewers evaluated the identified studies' titles, abstracts, and full texts, extracting pertinent data. We assessed the quality of the studies using the Cochrane Risk of Bias (RoB) 2.0 tool. We then conducted a meta-analysis using the fixed effects model in the case of insignificant heterogeneity; otherwise, we used the random effects model. Based on the nature of the outcome, we analyzed the mean difference or the odds ratio. Analysis was conducted using RevMan version 5.3.
RESULTS
Among the analyzed outcomes in 181 patients in the trofinetide group and 134 patients in the placebo group, significant improvement in Rett Syndrome Behavior Questionnaire (RSBQ) scores was observed at 200 mg dosage (overall mean difference: -3.53, p = 0.001). Clinical Global Impression-Improvement (CGI-I) scores improved considerably at 200 mg dosage (overall mean difference: -0.34, p < 0.0001). No substantial changes were observed in Motor Behavioral Assessment (MBA) or Top 3 Caregiver Concerns. We evaluated Treatment Emergent Adverse Events (TEAEs) across the various dosages and noted significant associations with diarrhea (200 mg), vomiting (200 mg), and irritability (200 mg). However, we did not find a significant association between any of the dosages and the incidence of decreased appetite.
CONCLUSION
Trofinetide demonstrated potential in improving RSBQ and CGI-I scores at 200 mg dosage. Although no substantial changes were found in MBA and top 3 caregiver concerns. Adverse events were linked to specific dosages.
Topics: Female; Humans; Rett Syndrome; Randomized Controlled Trials as Topic; Glutamates; Diarrhea
PubMed: 38521908
DOI: 10.1186/s12887-024-04526-3 -
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 -
Reproductive Biology and Endocrinology... Jul 2023Ovarian hyperstimulation syndrome (OHSS) is a potentially life-threating iatrogenic complication of the early luteal phase and/or early pregnancy after in vitro... (Meta-Analysis)
Meta-Analysis Review
Ovarian hyperstimulation syndrome (OHSS) is a potentially life-threating iatrogenic complication of the early luteal phase and/or early pregnancy after in vitro fertilization (IVF) treatment. The aim of the current study was to identify the most effective methods for preventing of and reducing the incidence and severity of OHSS in IVF patients. A systematic review of systematic reviews of randomized controlled trials (RCTs) with meta-analysis was used to assess each potential intervention (PROSPERO website, CRD 268626) and only studies with the highest quality were included in the qualitative analysis. Primary outcomes included prevention and reduction of OHSS incidence and severity. Secondary outcomes were maternal death, incidence of hospital admission, days of hospitalization, and reproductive outcomes, such as incidence of live-births, clinical pregnancies, pregnancy rate, ongoing pregnancy, miscarriages, and oocytes retrieved. A total of specific interventions related to OHSS were analyzed in 28 systematic reviews of RCTs with meta-analyses. The quality assessment of the included studies was high, moderate, and low for 23, 2, and 3 studies, respectively. The certainty of evidence (CoE) for interventions was reported for 37 specific situations/populations and resulted high, moderate, and low-to-very low for one, 5, and 26 cases, respectively, while it was not reported in 5 cases. Considering the effective interventions without deleterious reproductive effects, GnRH-ant co-treatment (36 RCTs; OR 0.61, 95% C 0.51 to 0.72, n = 7,944; I = 31%) and GnRH agonist triggering (8 RCTs; OR 0.15, 95% CI 0.05 to 0.47, n = 989; I = 42%) emerged as the most effective interventions for preventing OHSS with a moderate CoE, even though elective embryo cryopreservation exhibited a low CoE. Furthermore, the use of mild ovarian stimulation (9 RCTs; RR 0.26, CI 0.14 to 0.49, n = 1,925; I = 0%), and dopaminergic agonists (10 RCTs; OR 0.32, 95% CI 0.23 to 0.44, n = 1,202; I = 13%) coadministration proved effective and safe with a moderate CoE. In conclusion, the current study demonstrates that only a few interventions currently can be considered effective to reduce the incidence of OHSS and its severity with high/moderate CoE despite the numerous published studies on the topic. Further well-designed RCTs are needed, particularly for GnRH-a down-regulated IVF cycles.
Topics: Female; Humans; Pregnancy; Fertilization in Vitro; Gonadotropin-Releasing Hormone; Incidence; Ovarian Hyperstimulation Syndrome; Systematic Reviews as Topic
PubMed: 37480081
DOI: 10.1186/s12958-023-01113-6 -
Preventive Medicine Reports Dec 2023The purpose of this study is to conduct a systematic review and -analysis of exercise interventions designed to improve cardiovascular responses in individuals with DS.... (Review)
Review
The purpose of this study is to conduct a systematic review and -analysis of exercise interventions designed to improve cardiovascular responses in individuals with DS. A search for relevant articles was conducted on seven electronic databases: PubMed, PEDro, Google Scholar, Scopus, WOS, MEDLINE, and SPORT Discus. An electronic search was conducted on October 15, 2022, without applying any year constraints. The studies were chosen based on a predetermined set of inclusion and exclusion criteria. The methodology of the study was evaluated using the PEDro scale, and data analyses were conducted using the CMA v3 random effects model. In total, 625 articles were reviewed, and data from 10 randomized controlled trials (RCTs) involving DS were used in this -analysis. The results showed that exercise programs were effective in increasing VO (ml. kg min) (ES: 0.69; 95 % confidence interval [CI], 0.27-1.12; : 0.001), time to exhaustion (ES: 0.83; CI, 0.31-1.35, : 0.001), and VE (ES: 0.76; CI, 0.32-1.20; P: 0.001). No changes were found for HR (ES: 0.3; CI, -0.02-0.63, : 0.07), VO (ml·min) (ES: 0.45; CI, -0.01-0.92; : 0.06), or RER (ES: 0.45; CI, -0.09-0.98, : 0.10). No adverse effects were reported in any of the studies. In this -analysis and comprehensive review, exercise interventions may improve cardiovascular responses in DS; however, the association wasn't consistent across trials. RCTs with precise intervention criteria, large sample sizes, and long-term follow-up are needed in the future to demonstrate the benefits of exercise on cardiovascular responses in people with DS.
PubMed: 38116290
DOI: 10.1016/j.pmedr.2023.102521 -
Nutrients Apr 2024L-carnitine (LC), a vital nutritional supplement, plays a crucial role in myocardial health and exhibits significant cardioprotective effects. LC, being the principal...
OBJECTIVE
L-carnitine (LC), a vital nutritional supplement, plays a crucial role in myocardial health and exhibits significant cardioprotective effects. LC, being the principal constituent of clinical-grade supplements, finds extensive application in the recovery and treatment of diverse cardiovascular and cerebrovascular disorders. However, controversies persist regarding the utilization of LC in nervous system diseases, with varying effects observed across numerous mental and neurological disorders. This article primarily aims to gather and analyze database information to comprehensively summarize the therapeutic potential of LC in patients suffering from nervous system diseases while providing valuable references for further research.
METHODS
A comprehensive search was conducted in PubMed, Web Of Science, Embase, Ovid Medline, Cochrane Library and Clinicaltrials.gov databases. The literature pertaining to the impact of LC supplementation on neurological or psychiatric disorders in patients was reviewed up until November 2023. No language or temporal restrictions were imposed on the search.
RESULTS
A total of 1479 articles were retrieved, and after the removal of duplicates through both automated and manual exclusion processes, 962 articles remained. Subsequently, a meticulous re-screening led to the identification of 60 relevant articles. Among these, there were 12 publications focusing on hepatic encephalopathy (HE), while neurodegenerative diseases (NDs) and peripheral nervous system diseases (PNSDs) were represented by 9 and 6 articles, respectively. Additionally, stroke was addressed in five publications, whereas Raynaud's syndrome (RS) and cognitive disorder (CD) each had three dedicated studies. Furthermore, migraine, depression, and amyotrophic lateral sclerosis (ALS) each accounted for two publications. Lastly, one article was found for other symptoms under investigation.
CONCLUSION
In summary, LC has demonstrated favorable therapeutic effects in the management of HE, Alzheimer's disease (AD), carpal tunnel syndrome (CTS), CD, migraine, neurofibromatosis (NF), PNSDs, RS, and stroke. However, its efficacy appears to be relatively limited in conditions such as ALS, ataxia, attention deficit hyperactivity disorder (ADHD), depression, chronic fatigue syndrome (CFS), Down syndrome (DS), and sciatica.
Topics: Humans; Carnitine; Dietary Supplements; Mental Disorders; Nervous System Diseases
PubMed: 38674921
DOI: 10.3390/nu16081232 -
Clinical Psychology Review Jun 2024We report a review examining the psychological wellbeing of parents of children with Down syndrome (DS) relative to that of parents of typically developing (TD)... (Meta-Analysis)
Meta-Analysis Review
We report a review examining the psychological wellbeing of parents of children with Down syndrome (DS) relative to that of parents of typically developing (TD) children. A systematic search identified 57 relevant studies, which were synthesised meta-analytically. Relative to their counterparts with TD children, mothers and fathers of children with DS reported higher levels of parenting stress (mothers: g = 0.57, 95% CI [0.33, 0.81]; fathers: g = 0.40, [0.24, 0.56]), depressive symptoms (mothers: g = 0.42, [0.23, 0.61]; fathers: g = 0.25, [0.02, 0.48]) and psychological distress (mothers: g = 0.45, [0.30, 0.60]; fathers: g = 0.63, [0.26, 0.99]). Small effects were found for anxiety for mothers (g = 0.16, [0.03, 0.29]), with no differences for fathers (g = 0.03, [-0.25, 0.32]). No group differences were found for positive impact of parenting (mothers: g = -0.09, [-0.25, 0.07]; fathers: g = -0.04, [-0.30, 0.22]), while evidence concerning other positive wellbeing outcomes was limited. No significant moderating effects of child age range, country income level, or group differences in parental education level were identified, but limited subgroup analyses were possible. Raising a child with DS may be associated with elevated stress, depressive symptoms, and psychological distress for mothers and fathers. However, levels of parenting reward appear equivalent to those experienced by parents raising TD children.
Topics: Humans; Down Syndrome; Parenting; Stress, Psychological; Child; Parents; Depression; Anxiety; Adult; Psychological Distress
PubMed: 38652972
DOI: 10.1016/j.cpr.2024.102426 -
Iranian Journal of Basic Medical... 2024Metabolic syndrome (MetS) is a cluster of metabolic abnormalities that has a high prevalence worldwide. Apigenin is a flavonoid present in several vegetables and fruits... (Review)
Review
Metabolic syndrome (MetS) is a cluster of metabolic abnormalities that has a high prevalence worldwide. Apigenin is a flavonoid present in several vegetables and fruits and has anti-inflammatory, anti-oxidant, and anti-MetS properties. This study aims to systematically review the effects of apigenin against MetS and the relevant molecular and cellular mechanisms of action, pharmacokinetics features, and potential structure-activity relationship. Electronic databases including Scopus, PubMed, Science Direct and Cochrane Library were searched for in vivo, and in vitro, and human studies with the following keywords: "apigenin" and "metabolic syndrome or insulin resistance syndrome", "fatty liver", "hypertension or blood pressure", "diabetes or blood glucose", "dyslipidemia", "heart or cardiovascular " and "obesity" in title/abstract. Data were collected from 2000 until 2021 (up to April). Only papers published in the English language were included. Forty-six full-text articles out of 1016 retrieved papers were reviewed and underwent quality assessment by investigators. Anti-obesity activity of apigenin is mainly through attenuating adipocyte differentiation by suppressing the mitotic clonal expansion and the adipogenesis-related factors. Its anti-diabetic effects can be exerted through inhibition of protein tyrosine phosphatase1B expression, maintaining the activity of anti-oxidant enzymes, reducing intracellular ROS production, cellular DNA damage, protein carbonylation, and attenuating β-cell apoptosis. Moreover, apigenin could attenuate dyslipidemia and subsequent atherosclerotic conditions through down-regulating sterol regulatory element-binding proteins (SREBP)-1c, SREBP-2, stearyl-CoA desaturase-1, and 3-hydroxy-3-methyl-glutaryl-CoA reductase. Apigenin as a dietary bioactive compound would be a promising candidate for improving MetS and its components.
PubMed: 38629096
DOI: 10.22038/IJBMS.2024.71539.15558 -
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 -
Journal of Speech, Language, and... Nov 2023The purpose of this scoping review was to (a) summarize methodological characteristics of studies examining vocal characteristics of infants at high risk for... (Review)
Review
PURPOSE
The purpose of this scoping review was to (a) summarize methodological characteristics of studies examining vocal characteristics of infants at high risk for neurological speech motor involvement and (b) report the state of the high-quality evidence on vocal characteristic trends of infants diagnosed or at high risk for cerebral palsy (CP).
METHOD
The PRISMA (Preferred Reporting Items of Systematic Reviews and Meta-Analyses) extension for scoping reviews was followed for reporting our review. Studies measured prelinguistic vocal characteristics of infants under 24 months with birth risk or genetic conditions known to commonly present with speech motor involvement. Fifty-five studies met criteria for Part 1. Eleven studies met criteria for synthesis in Part 2.
RESULTS
A smaller percentage of studies examined infants with or at risk for CP compared to studies examining genetic conditions such as Down syndrome. The median year of publication was 1999, with a median sample size of nine participants. Most studies were conducted in laboratory settings and used human coding of vocalizations produced during caregiver-child interactions. Substantial methodological differences were noted across all studies. A small number of high-quality studies of infants with or at risk for CP revealed high rates of marginal babbling, low rates of canonical babbling, and limited consonant diversity under 24 months. Mixed findings were noted across studies of general birth risk factors.
CONCLUSIONS
There is limited evidence available to support the early detection of speech motor involvement. Large methodological differences currently impact the ability to synthesize findings across studies. There is a critical need to conduct longitudinal research with larger sample sizes and advanced, modern technologies to detect vocal precursors of speech impairment to support the accurate diagnosis and prognosis of speech development in infants with CP and other clinical populations.
Topics: Humans; Infant; Speech; Speech Disorders; Cerebral Palsy
PubMed: 37850852
DOI: 10.1044/2023_JSLHR-23-00336 -
Healthcare (Basel, Switzerland) Jan 2024Down syndrome (DS) is the most common genetic alteration in humans, resulting from the trisomy of chromosome 21. Individuals with DS are characterized by physical traits... (Review)
Review
Down syndrome (DS) is the most common genetic alteration in humans, resulting from the trisomy of chromosome 21. Individuals with DS are characterized by physical traits and limitations related to intellectual functioning and the development of motor skills. People with DS tend to have lower levels of physical activity (PA) than the general population, despite its benefits for health and quality of life, which could be caused by barriers such as the lack of adapted programs or knowledge on how to adapt them. Therefore, this systematic review aimed to examine the impact of physical activity or sports programs on autonomy and quality of life in individuals with DS. Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines were followed to search four databases (Scopus, Web of Science, PubMed, and SportDiscus), adhering to the population, intervention, comparison, and outcome strategy. A total of 13 studies were selected that followed different training programs (combined training, adapted football, technology-based, pulmonary training, gymnastics and dance, water-based, and whole body vibration). Most of the interventions provided benefits for autonomy or quality of life (physical, psychological, cognitive, emotional, and social) in people with DS. In conclusion, the benefits of physical activity and sports programs adapted to people with DS are positive.
PubMed: 38255069
DOI: 10.3390/healthcare12020181