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Ultrasound in Obstetrics & Gynecology :... Mar 2014To review systematically the literature on diagnostic tests and performance of second-trimester sonographic assessment of nasal bone (NB) in identifying fetuses affected... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To review systematically the literature on diagnostic tests and performance of second-trimester sonographic assessment of nasal bone (NB) in identifying fetuses affected by Down syndrome.
METHODS
A search of studies involving screening tests for NB evaluation and measurements was carried out in the main international bibliographic databases (MEDLINE, EMBASE and CINAHL). Those considered to be relevant were then subjected to critical reading, following Critical Appraisal Skills Programme (CASP) criteria, by at least three independent observers. All data were extracted and tabulated by two independent investigators. A statistical synthesis of sensitivity, specificity and likelihood ratios was performed using specific software (Meta-DiSc).
RESULTS
From an initial list of 852 articles referring to ultrasound markers for Down syndrome, 207 relevant papers were selected. Following exclusions, 21 studies were included in the quantitative synthesis. The pooled estimates of positive and negative likelihood ratios were 40.08 (95% CI, 18.10-88.76) and 0.71 (95% CI, 0.64-0.79), respectively, for absent NB and 15.15 (95% CI, 8.15-28.16) and 0.47 (95% CI, 0.34-0.64), respectively, for hypoplastic NB. No relevant differences were found between the various means of defining nasal hypoplasia (multiples of the median (MoM) or percentiles). The biparietal diameter/nasal bone length (BPD/NBL) ratio showed somewhat higher sensitivity but lower specificity with a threshold effect.
CONCLUSIONS
NB absence or hypoplasia show high specificity and low but acceptable sensitivity in identifying fetuses with Down syndrome. Screening performance is better with NB measurements as a function of MoM or percentiles rather than as the BPD/NBL ratio. Classification of women into various risk groups for Down syndrome does not affect diagnostic performance.
Topics: Biometry; Down Syndrome; Female; Humans; Infant, Newborn; Nasal Bone; Pregnancy; Pregnancy Trimester, Second; ROC Curve; Sensitivity and Specificity; Ultrasonography, Prenatal
PubMed: 24151178
DOI: 10.1002/uog.13228 -
Frontiers in Neurology 2022To evaluate the efficacy and adverse effects of hypoglossal nerve stimulation in adolescents with down syndrome and obstructive sleep apnea.
OBJECTIVE
To evaluate the efficacy and adverse effects of hypoglossal nerve stimulation in adolescents with down syndrome and obstructive sleep apnea.
METHODS
A systematic search was conducted using PubMed, Web of Science, Embase, and Scopus databases. The systematic review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. A comprehensive search strategy used a combination of Medical Subject Headings and free words with "OR" and "AND." Articles were screened to extract data reporting apnea-hypopnea index, quality of life, voltage, follow-up duration, and complications. All included participants were adolescents with down syndrome and obstructive sleep apnea.
RESULTS
A total of 92 articles were identified, of which 9 articles met the inclusion criteria. A total of 106 patients were included. All the studies showed that patients receiving hypoglossal nerve stimulation experienced a significant decrease in apnea-hypopnea index (at least 50%). The pooled AHI was significantly lower in patients following treatment (mean AHI reduction 17.43 events/h, 95% confidence interval 13.98-20.88 events/h, < 0.001) after 2 case reports were excluded. The pooled OSA-18 were significantly decreased in 88 patients after treatment (mean OSA-18 reduction 1.67, 95% confidence interval 1.27-2.08, < 0.001) after excluding 5 studies. Four investigations examined the necessity to optimize stimulation voltage for arousal during treatment. The most common complication was pain or discomfort in the tongue or mouth. Most studies had relatively short patient follow-up periods, with the most extended follow-up being 44-58 months.
CONCLUSION
Hypoglossal nerve stimulation significantly reduces apnea-hypopnea index and improves the quality of life; and thus, could be a potential alternative therapy for obstructive sleep apnea in adolescents with down syndrome. The adolescent's age, potential complications, adverse events, long-term efficacy, and comfort, needs to be considered while performing hypoglossal nerve stimulation.
PubMed: 36388229
DOI: 10.3389/fneur.2022.1037926 -
Journal of Clinical and Experimental... Jul 2016Traditionally, patients with physical and/or intellectual disabilities presented greater oral pathology, owing to their condition and to other external factors. Improved... (Review)
Review
INTRODUCTION
Traditionally, patients with physical and/or intellectual disabilities presented greater oral pathology, owing to their condition and to other external factors. Improved social and health conditions make it necessary to update knowledge on their oral and dental health.
MATERIAL AND METHODS
For this purpose, a bibliographic review was done regarding the state of oral health of children with these two types of disability, in comparison with a control group. Some of the guidelines of the PRISMA statement were taken into account. The ranking of the articles found is based on the modified Newcastle-Ottawa Quality Assessment Scale. The final number of articles evaluated was 14. Parameters such as dental caries, oral hygiene, gingival health, dental traumas, malocclusion and habits were considered.
RESULTS
There is no consensus among authors regarding dental caries, oral hygiene and gingival health. The different results obtained are due in part to the fact that the methodologies used were not the same. However, it has been noted that, when studying other parameters and regardless of the methodology employed, the results obtained are similar.
CONCLUSIONS
Children with physical and intellectual disabilities constitute a group that needs early and regular dental care in order to prevent and limit the severity of the pathologies observed.
KEY WORDS
Oral health, dental caries, malocclusion, oral habits, dental trauma, oral hygiene, disabled child, cerebral palsy and Down syndrome.
PubMed: 27398187
DOI: 10.4317/jced.52922 -
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 -
Ultrasound in Obstetrics & Gynecology :... Aug 2014First, to estimate the prevalence of fetal aberrant right subclavian artery (ARSA) in our population and its association with Down syndrome. Second, to determine the... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES
First, to estimate the prevalence of fetal aberrant right subclavian artery (ARSA) in our population and its association with Down syndrome. Second, to determine the feasibility of ultrasound to visualize ARSA in the three planes. Finally, to carry out a systematic review of the literature on the performance of second-trimester ARSA to identify fetuses with Down syndrome.
METHODS
ARSA was assessed by ultrasound in the axial plane and confirmed in the longitudinal and coronal planes during the second half of pregnancy in women attending our unit (from February 2011 to December 2012). A search of diagnostic tests for the assessment of ARSA was carried out in international databases. Relevant studies were subjected to a critical reading, and meta-analysis was performed with Meta-DiSc.
RESULTS
Of the 8781 fetuses in our population (mean gestational age: 24 ± 5.4 weeks), 22 had Down syndrome. ARSA was detected in the axial view in 60 cases (0.7%) and confirmed in the coronal view in 96.7% and in the longitudinal view in 6.7% (P < 0.001). Seven cases with ARSA had Down syndrome and all were in the non-isolated-ARSA group. The estimates of positive likelihood ratio (LR) were 0 for isolated ARSA and 199 (95% CI, 88.9-445.2) for non-isolated ARSA. In the systematic review, six studies were selected for quantitative synthesis. The pooled estimates of positive and negative LRs for global ARSA were, respectively, 35.3 (95% CI, 24.4-51.1) and 0.75 (95% CI, 0.64-0.87). For isolated ARSA, the positive and negative LRs were 0 (95% CI, 0.0-14.7) and 0.98 (95% CI, 0.94-1.02), respectively.
CONCLUSIONS
The prevalence of ARSA seems close to 1%. The coronal plane is the most suitable for its confirmation after detection in the axial plane. Detection of isolated or non-isolated ARSA should guide decisions about karyotyping given that isolated ARSA shows a weak association with Down syndrome.
Topics: Adult; Aneurysm; Cardiovascular Abnormalities; Chromosome Aberrations; Congenital Abnormalities; Deglutition Disorders; Down Syndrome; Echocardiography; Female; Fetus; Humans; Pregnancy; Pregnancy Trimester, Second; Subclavian Artery; Ultrasonography, Prenatal
PubMed: 24585513
DOI: 10.1002/uog.13336 -
Plasma amyloid and tau as dementia biomarkers in Down syndrome: Systematic review and meta-analyses.Developmental Neurobiology Jul 2019Individuals with Down syndrome (DS) are at high risk of developing Alzheimer's disease (AD). Discovering reliable biomarkers which could facilitate early AD diagnosis... (Meta-Analysis)
Meta-Analysis
Individuals with Down syndrome (DS) are at high risk of developing Alzheimer's disease (AD). Discovering reliable biomarkers which could facilitate early AD diagnosis and be used to predict/monitor disease course would be extremely valuable. To examine if analytes in blood related to amyloid plaques may constitute such biomarkers, we conducted meta-analyses of studies comparing plasma amyloid beta (Aβ) levels between DS individuals and controls, and between DS individuals with and without dementia. PubMed, Embase, and Google Scholar were searched for studies investigating the relationship between Aβ plasma concentrations and dementia in DS and 10 studies collectively comprising >1,600 adults, including >1,400 individuals with DS, were included. RevMan 5.3 was used to perform meta-analyses. Meta-analyses showed higher plasma Aβ (SMD = 1.79, 95% CI [1.14, 2.44], Z = 5.40, p < .00001) and plasma Aβ levels (SMD = 1.41, 95% CI [1.15, 1.68], Z = 10.46, p < .00001) in DS individuals than controls, and revealed that DS individuals with dementia had higher plasma Aβ levels (SMD = 0.23, 95% CI [0.05, 0.41], Z = 2.54, p = .01) and lower Aβ /Aβ ratios (SMD = -0.33, 95% CI [-0.63, -0.03], Z = 2.15, p = .03) than DS individuals without dementia. Our results indicate that plasma Aβ levels may constitute a promising biomarker for predicting dementia status in individuals with DS. Further investigations using new ultra-sensitive assays are required to obtain more reliable results and to investigate to what extent these results may be generalizable beyond the DS population.
Topics: Amyloid; Amyloid beta-Peptides; Animals; Biomarkers; Down Syndrome; Humans; tau Proteins
PubMed: 31389176
DOI: 10.1002/dneu.22715 -
Journal of Orthopaedic Surgery and... Aug 2021Musculoskeletal disorders, especially in the feet, are common in people with Down syndrome (DS). Evaluation of podiatric footprints is important to prevent and manage... (Review)
Review
BACKGROUND
Musculoskeletal disorders, especially in the feet, are common in people with Down syndrome (DS). Evaluation of podiatric footprints is important to prevent and manage orthopedic symptoms. The reliability of a wide variety of footprint measurement methods has been evaluated in healthy people, but few studies have considered the specific morphotype features of the feet in subjects with DS. The aim of this systematic review was to identify the podometric measurement tools used to typologically classify the footprints in the population with DS.
METHODS
The following electronic databases were searched for studies describing footprint measurement tools to assess and classify the foot types in patients with DS published from inception to December 2020: PubMed, Web of Science, CINAHL, and Scopus. Articles were initially searched by screening titles and abstracts. Potentially relevant studies were then further screened by reviewing full texts. Studies that met the inclusion criteria were included in the review.
RESULTS
Of the 122 articles identified by the search strategy, 14 full texts were retained to assess for eligibility, of which 11 studies met the inclusion criteria and were included. All the studies used footprint measurement methods to classify the foot types in subjects with DS, but only two studies assessed the reliability of those methods for the population with DS. The footprint measurement tools identified were a podoscope, a pressure-sensitive mat, a PressureStat carbon paper, and a 3D scanner. The Arch Index was the most common footprint measurement analyzed (seven studies). Two studies used the "gold standard" indexes that include Hernández-Corvo Index, Chippaux-Smirak Index, Staheli Index, and Clarke Angle to measure footprints.
CONCLUSIONS
There is a need to determine the reliability and validity of the footprint measurement methods used for clinical classification of the foot types in subjects with DS. This can contribute to an early diagnosis of foot abnormalities that would help to reduce mobility impairments, improving the quality of life of patients with DS.
Topics: Anthropometry; Down Syndrome; Foot; Humans; Quality of Life; Reproducibility of Results
PubMed: 34452620
DOI: 10.1186/s13018-021-02667-0 -
PloS One 2017Different metabolic profiles as well as comorbidities are common in people with Down Syndrome (DS). Therefore it is relevant to know whether micronutrient levels in... (Meta-Analysis)
Meta-Analysis Review
Systematic review and meta-analysis shows a specific micronutrient profile in people with Down Syndrome: Lower blood calcium, selenium and zinc, higher red blood cell copper and zinc, and higher salivary calcium and sodium.
Different metabolic profiles as well as comorbidities are common in people with Down Syndrome (DS). Therefore it is relevant to know whether micronutrient levels in people with DS are also different. This systematic review was designed to review the literature on micronutrient levels in people with DS compared to age and sex-matched controls without DS. We identified sixty nine studies from January 1967 to April 2016 through main electronic medical databases PubMed, Scopus, and Web of knowledge. We carried out meta-analysis of the data on four essential trace elements (Cu, Fe, Se, and Zn), six minerals (Ca, Cl, K, Mg, Na, and P), and five vitamins (vitamin A, B9, B12, D, and E). People with DS showed lower blood levels of Ca (standard mean difference (SMD) = -0.63; 95% confidence interval (CI): -1.16 to -0.09), Se (SMD = -0.99; 95% CI: -1.55 to -0.43), and Zn (SMD = -1.30; 95% CI: -1.75 to -0.84), while red cell levels of Zn (SMD = 1.88; 95% CI: 0.48 to 3.28) and Cu (SMD = 2.77; 95% CI: 1.96 to 3.57) were higher. They had also higher salivary levels of Ca (SMD = 0.85; 95% CI: 0.38 to 1.33) and Na (SMD = 1.04; 95% CI: 0.39 to 1.69). Our findings that micronutrient levels are different in people with DS raise the question whether these differences are related to the different metabolic profiles, the common comorbidities or merely reflect DS.
Topics: Adult; Calcium; Case-Control Studies; Cations, Divalent; Cations, Monovalent; Child; Copper; Down Syndrome; Female; Humans; Male; Micronutrients; Saliva; Selenium; Sodium; Zinc
PubMed: 28422987
DOI: 10.1371/journal.pone.0175437 -
Journal of Neurodevelopmental Disorders Aug 2019Measures of general cognitive and adaptive ability in adults with Down syndrome (DS) used by previous studies vary substantially. This review summarises the different...
BACKGROUND
Measures of general cognitive and adaptive ability in adults with Down syndrome (DS) used by previous studies vary substantially. This review summarises the different ability measures used previously, focusing on tests of intelligence quotient (IQ) and adaptive behaviour (AB), and where possible examines floor effects and differences between DS subpopulations. We aimed to use information regarding existing measures to provide recommendations for individual researchers and the DS research community.
RESULTS
Nineteen studies reporting IQ test data met inclusion for this review, with 17 different IQ tests used. Twelve of these IQ tests were used in only one study while five were used in two different studies. Eleven studies reporting AB test data met inclusion for this review, with seven different AB tests used. The only AB scales to be used by more than one study were the Vineland Adaptive Behaviour Scale (VABS; used by three studies) and the Vineland Adaptive Behavior Scale 2nd Edition (VABS-II; used by two studies). A variety of additional factors were identified which make comparison of test scores between studies problematic, including different score types provided between studies (e.g. raw scores compared to age-equivalent scores) and different participant inclusion criteria (e.g. whether individuals with cognitive decline were excluded). Floor effects were common for IQ tests (particularly for standardised test scores). Data exists to suggest that floor effects may be minimised by the use of raw test scores rather than standardised test scores. Raw scores may, therefore, be particularly useful in longitudinal studies to track change in cognitive ability over time.
CONCLUSIONS
Studies assessing general ability in adults with DS are likely to benefit from the use of both IQ and AB scales. The DS research community may benefit from the development of reporting standards for IQ and AB data, and from the sharing of raw study data enabling further in-depth investigation of issues highlighted by this review.
Topics: Adaptation, Psychological; Aptitude; Down Syndrome; Humans; Intelligence; Intelligence Tests
PubMed: 31470792
DOI: 10.1186/s11689-019-9279-8 -
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