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Scientific Reports Jul 2022The effects and the prescription parameters of therapeutic exercise are not clear. For this reason, is needed to determine the effect of therapeutic exercises on the... (Meta-Analysis)
Meta-Analysis
The effects and the prescription parameters of therapeutic exercise are not clear. For this reason, is needed to determine the effect of therapeutic exercises on the motor function of children with Down Syndrome (DS) aged 0 to 3 years. The present study is systematic review and meta-analysis of effectiveness outcomes in this population: gait, balance, motor development, fine motor skills, and executive functions. The databases of PubMed, PEDro, EMBASE, SCIELO, Lilacs, Cochrane library were searched from January to December 2019. We recruited Randomized Controlled Trials (RCTs) which met the inclusion criteria in our study. Six studies and 151 participants were included. Two types of therapeutic exercises, aerobic and neuromuscular, were identified. Both types of exercise were effective in improving outcomes. There were no differences between the modes of application of the exercise. No differences were identified between the treadmill and the physiotherapy plan for the reduction of the time to reach independent walking, Mean Difference (MD) 46.79, 95% Confidence Interval (IC) (- 32.60, 126.19), nor for the increase in walking speed MD 0.10 IC (- 0.02, 0.21) m/s. This study suggests that aerobic exercise therapy has a potentially effective role to promote the gait and motor development of children with DS aged 0 to 3 years when it is applied using a treadmill with a frequency of 5 days, a duration of 6-8 min, and an intensity of between 0.2 and 0.5 m/s. Studies with less heterogeneity and larger sample sizes are required.
Topics: Child; Down Syndrome; Exercise; Exercise Therapy; Gait; Humans; Randomized Controlled Trials as Topic; Walking Speed
PubMed: 35906275
DOI: 10.1038/s41598-022-16332-x -
Frontiers in Medicine 2022Down's syndrome (DS) is the most common genetic disorder at birth. Multiple developmental abnormalities before birth and early onset of degenerative deficits after birth...
Down's syndrome (DS) is the most common genetic disorder at birth. Multiple developmental abnormalities before birth and early onset of degenerative deficits after birth are features of DS. Early treatment for the manifestations associated with DS in either prenatal or postnatal period may improve clinical outcomes. However, information available from professional bodies and to communities is very limited. We carried out a systematic review and attempted meta-analysis of clinical trials for developmental abnormalities and degenerative deficits in DS. Only 15 randomized controlled trials (RCTs) in 995 (24 days to 65 years old) individuals with DS showed some improvement in cognitive disorders, development and growth, and musculoskeletal problem. However, each trial used different parameters and methods to measure various outcomes. RCTs of prenatal interventions in fetus with DS are lacking. The efficacy and safety of specific interventions in DS are still largely unknown. Proper counseling of the potential treatment for pregnant mothers who wish to continue their pregnancy carrying fetus with DS, and to health care professionals who take care of them are not adequate nowadays.
PubMed: 35865169
DOI: 10.3389/fmed.2022.910424 -
Frontiers in Cellular Neuroscience 2022Neurodevelopmental impairment contributes to the hallmark cognitive disability in individuals with Down syndrome (DS, trisomy 21, T21). The appearance of cognitive...
Neurodevelopmental impairment contributes to the hallmark cognitive disability in individuals with Down syndrome (DS, trisomy 21, T21). The appearance of cognitive deficits in infancy suggests that alterations emerge during the earliest stages of neural development and continue throughout the lifespan in DS. Neural correlates of intellectual and language function include cortical structures, specifically temporal and frontal lobes that are smaller in DS. Yet, despite increased understanding of the DS cognitive-behavioral phenotype in childhood, there is very little structural and histological information to help explain the deficits. Consequently, attempts to effectively design therapeutic targets or interventions are limited. We present a systematic review of published research on cortical development in DS that reveals a paucity of studies that rigorously identify cellular features that may underlie the gross morphological deficits of the developing DS brain. We assessed 115 published reports retrieved through PubMed and other sources and found that only 23 reported histological and/or immunohistochemical data to define cell composition affected in DS post-mortem brain. Further, our analysis reveals that many reports have limited samples sizes and few DS samples, making it difficult to draw conclusions that are generally applicable to the DS population. Thus, the lack of replication and limited number of studies indicate that more developmentally focused research, ideally using equal numbers of age-matched samples in analyses, is needed to elucidate the cellular nature of smaller brain size in DS.
PubMed: 35769326
DOI: 10.3389/fncel.2022.915272 -
European Respiratory Review : An... Jun 2022Children with Down syndrome are at increased risk of sleep disordered breathing (SDB). SDB is associated with significant morbidity including neurocognitive impairment,... (Meta-Analysis)
Meta-Analysis Review
Children with Down syndrome are at increased risk of sleep disordered breathing (SDB). SDB is associated with significant morbidity including neurocognitive impairment, cardiometabolic disease and systemic inflammation. The identification of clinical markers that may predict SDB is critical in facilitating early diagnosis and treatment, and ultimately, preventing morbidity. The objective of this systematic review was to identify predictors of SDB in patients with Down syndrome. A search was conducted using MEDLINE, Embase, the Cochrane Central Register of Controlled Trials and the Cumulative Index to Nursing and Allied Health Literature. A meta-analysis was performed according to the Meta-analyses of Observational Studies in Epidemiology checklist. Our review of the literature identified inconsistent associations between a variety of variables and SDB in children with Down syndrome, although the quality of evidence was poor. Meta-analysis of age and sex identified that children with OSA were older than those without OSA, and there was a similar risk of OSA in males and females, although risk favoured males. Currently, the American Academy of Pediatrics guidelines recommend that children with Down syndrome undergo polysomnography by the age of 4 years. Our review supports the recommendation for routine screening of children with Down syndrome. However, results from our meta-analysis suggest a need for longitudinal screening to diagnose children who may develop SDB as they get older.
Topics: Child; Child, Preschool; Down Syndrome; Female; Humans; Male; Polysomnography; Sleep Apnea Syndromes; Sleep Apnea, Obstructive
PubMed: 35768130
DOI: 10.1183/16000617.0026-2022 -
Frontiers in Pediatrics 2022Children with Down syndrome are at risk for obstructive sleep apnea, which may not be resolved by adenotonsillecotmy, as well as other respiratory disorders that may...
CONTEXT
Children with Down syndrome are at risk for obstructive sleep apnea, which may not be resolved by adenotonsillecotmy, as well as other respiratory disorders that may impact breathing during sleep. Long-term non-invasive ventilation, including continuous and bilevel positive airway pressure delivery, is an alternate treatment strategy.
OBJECTIVE
To assess the use and outcomes of long-term non-invasive ventilation in children with Down syndrome including comparison to other children using long-term non-invasive ventilation.
DATA SOURCES
The search strategy for the scoping review used Medical Subject Headings (MeSH) and free-text terms for "child" and "non-invasive ventilation." MEDLINE (Ovid), Embase (Ovid), CINAHL (Ebsco), Cochrane Library (Wiley), and PubMed databases were searched (1990-2021).
STUDY SELECTION
The scoping review results were searched to identify studies including data on at least three children with Down Syndrome using long-term non-invasive ventilation.
DATA EXTRACTION
Study characteristics, subject characteristics, technology type, and outcome measurements were extracted.
RESULTS
A total of 28 articles included 543 children with Down syndrome using long-term non-invasive ventilation. Children with Down syndrome accounted for 18% of children using long-term non-invasive ventilation. Data on efficacy, feasibility, and adherence in children with Down syndrome are comparable to other children. Children with Down syndrome may have greater difficulty initiating long-term non-invasive ventilation, longer time to establish use, and a higher rate of inability to establish use. Outcome data is limited but suggest favorable impact on cardiac function and attention.
LIMITATIONS
Articles related to long-term non-invasive ventilation use in adolescents and young adults may have been excluded.
CONCLUSIONS
Children with Down syndrome make up a significant portion of the population of children using long-term non-invasive ventilation. While there is more limited data available with respect to the use and outcomes for children with Down syndrome compared to the other children, long-term non-invasive ventilation is an effective and well-tolerated therapy with no clear differences in the use or outcomes for children with Down syndrome. Additional work is needed to understand potential challenges around establishing long-term non-invasive ventilation use in children with Down syndrome.
SYSTEMATIC REVIEW REGISTRATION
https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=206533, identifier: CRD206533.
PubMed: 35676906
DOI: 10.3389/fped.2022.886727 -
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 -
Molecules (Basel, Switzerland) May 2022Down Syndrome (DS) is considered the most frequent form of Intellectual Disability, with important expressions of cognitive decline and early dementia. Studies on... (Review)
Review
Down Syndrome (DS) is considered the most frequent form of Intellectual Disability, with important expressions of cognitive decline and early dementia. Studies on potential treatments for dementia in this population are still scarce. Thus, the current review aims to synthesize the different pharmacological approaches that already exist in the literature, which focus on improving the set of symptoms related to dementia in people with DS. A total of six studies were included, evaluating the application of supplemental antioxidant therapies, such as alpha-tocopherol; the use of acetylcholinesterase inhibitor drugs, such as donepezil; N-methyl-d-aspartate (NMDA) receptor antagonists, such as memantine; and the use of vitamin E and a fast-acting intranasal insulin. Two studies observed important positive changes related to some general functions in people with DS (referring to donepezil). In the majority of studies, the use of pharmacological therapies did not lead to improvement in the set of symptoms related to dementia, such as memory and general functionality, in the population with DS.
Topics: Acetylcholinesterase; Cholinesterase Inhibitors; Dementia; Donepezil; Down Syndrome; Humans; Memantine; Randomized Controlled Trials as Topic; Receptors, N-Methyl-D-Aspartate
PubMed: 35630721
DOI: 10.3390/molecules27103244 -
International Journal of Environmental... May 2022Language is one of the most affected areas in people with Down syndrome and is one of the most influential throughout their development. That is why the linguistic...
Language is one of the most affected areas in people with Down syndrome and is one of the most influential throughout their development. That is why the linguistic difficulties presented by this group are susceptible to treatment through different specific interventions. However, little emphasis has been placed on the effectiveness and importance of this type of intervention in improving their language skills. Therefore, this work aimed to carry out a systemic literature review of language intervention programs that have been carried out in the last 20 years. To this end, a total of 18 articles were analyzed in which the effectiveness of different types of treatment related to oral language, written language and communication, in general, was studied, using the guidelines of the PRISMA Statement and the COSMIN methodology. The results highlight that language intervention improves linguistic levels in people with Down Syndrome. Most of the research focuses on early interventions and interventions carried out through individual sessions. Nevertheless, the data are unanimous in considering the efficacy and effectiveness of the proposed treatments for improving the language skills of people with Down syndrome. Thus, linguistic intervention is a fundamental area of work throughout the lives of people with Down syndrome.
Topics: Down Syndrome; Humans; Language; Language Development Disorders; Language Therapy; Linguistics
PubMed: 35627579
DOI: 10.3390/ijerph19106043 -
Genetics in Medicine : Official Journal... Jul 2022Noninvasive prenatal screening (NIPS) using cell-free DNA has been assimilated into prenatal care. Prior studies examined clinical validity and technical performance in... (Review)
Review
PURPOSE
Noninvasive prenatal screening (NIPS) using cell-free DNA has been assimilated into prenatal care. Prior studies examined clinical validity and technical performance in high-risk populations. This systematic evidence review evaluates NIPS performance in a general-risk population.
METHODS
Medline (PubMed) and Embase were used to identify studies examining detection of Down syndrome (T21), trisomy 18 (T18), trisomy 13 (T13), sex chromosome aneuploidies, rare autosomal trisomies, copy number variants, and maternal conditions, as well as studies assessing the psychological impact of NIPS and the rate of subsequent diagnostic testing. Random-effects meta-analyses were used to calculate pooled estimates of NIPS performance (P < .05). Heterogeneity was investigated through subgroup analyses. Risk of bias was assessed.
RESULTS
A total of 87 studies met inclusion criteria. Diagnostic odds ratios were significant (P < .0001) for T21, T18, and T13 for singleton and twin pregnancies. NIPS was accurate (≥99.78%) in detecting sex chromosome aneuploidies. Performance for rare autosomal trisomies and copy number variants was variable. Use of NIPS reduced diagnostic tests by 31% to 79%. Conclusions regarding psychosocial outcomes could not be drawn owing to lack of data. Identification of maternal conditions was rare.
CONCLUSION
NIPS is a highly accurate screening method for T21, T18, and T13 in both singleton and twin pregnancies.
Topics: Cell-Free Nucleic Acids; Down Syndrome; Female; Humans; Noninvasive Prenatal Testing; Pregnancy; Prenatal Diagnosis; Sex Chromosome Aberrations; Trisomy; Trisomy 13 Syndrome; Trisomy 18 Syndrome
PubMed: 35608568
DOI: 10.1016/j.gim.2022.03.019 -
Cureus Mar 2022Moyamoya disease is defined as stenosis of the internal carotid artery or the middle, anterior or posterior cerebral arteries with considerable collateral development.... (Review)
Review
Moyamoya disease is defined as stenosis of the internal carotid artery or the middle, anterior or posterior cerebral arteries with considerable collateral development. This collateral vessel has a particular appearance in angiographic examinations. Moyamoya syndrome is a term used to describe when moyamoya disease occurs in conjunction with other systemic disorders. One of the associations is Down syndrome. Moyamoya syndrome is very common in patients with Down syndrome, and the cause for this is unknown. The majority of patients present in their first decade, with the clinical presentation varying with age. The cause of moyamoya syndrome in people with trisomy 21 is unknown. This research aimed to learn more about the genesis and pathology of moyamoya syndrome in people with Down syndrome. The Preferred Reporting Items for Systematic Review and Meta-Analysis (PRISMA) guidelines were used to conduct this systematic review. Several publications connected to this topic were searched through a comprehensive database search. They were narrowed down to a final number of ten articles after applying inclusion and exclusion criteria and analyzing the quality of each work. Several possibilities were presented in these final papers to explain the link between moyamoya syndrome and trisomy 21. Trisomy 21 patients have a genetic predisposition to vascular problems. The RNF213 gene may interact with the genes on chromosome 21 that influence vascular physiology and elasticity in patients with Down syndrome, resulting in the whole picture of moyamoya syndrome.
PubMed: 35494994
DOI: 10.7759/cureus.23502