-
Frontiers in Psychology 2023The main objective of this systematic review was to synthesize the evidence on the occurrence and characteristics of stuttering in individuals with Down syndrome and... (Review)
Review
The main objective of this systematic review was to synthesize the evidence on the occurrence and characteristics of stuttering in individuals with Down syndrome and thus contribute knowledge about stuttering in this population. Group studies reporting outcome measures of stuttering were included. Studies with participants who were preselected based on their fluency status were excluded. We searched the Eric, PsychInfo, Medline, Scopus, and Web of Science Core Collection databases on 3rd January 2022 and conducted supplementary searches of the reference lists of previous reviews and the studies included in the current review, as well as relevant speech and language journals. The included studies were coded in terms of information concerning sample characteristics, measurement approaches, and stuttering-related outcomes. The appraisal tool for cross-sectional studies (AXIS) was used to evaluate study quality. We identified 14 eligible studies, with a total of 1,833 participants (mean = 131.29, standard deviation = 227.85, median = 45.5) between 3 and 58 years of age. The estimated occurrence of stuttering ranged from 2.38 to 56%, which is substantially higher than the estimated prevalence (1%) of stuttering in the general population. The results also showed that stuttering severity most often was judged to be mild-to-moderate and that individuals with Down syndrome displayed secondary behaviors when these were measured. However, little attention has been paid to investigating the potential adverse effects of stuttering for individuals with Down syndrome. We judged the quality of the evidence to be moderate-to-low. The negative evaluation was mostly due to sampling limitations that decreased the representability and generalizability of the results. Based on the high occurrence of stuttering and the potential negative effects of this condition, individuals with Down syndrome who show signs of stuttering should be referred to a speech and language pathologist for an evaluation of their need for stuttering treatment.
PubMed: 38094702
DOI: 10.3389/fpsyg.2023.1176743 -
Frontiers in Pediatrics 2023To analyze and determine the quality of functioning in different components of GHRH-GH-IGF1 axis in children with Down syndrome (DS).
OBJECTIVE
To analyze and determine the quality of functioning in different components of GHRH-GH-IGF1 axis in children with Down syndrome (DS).
DESIGN
Systematic review and mini meta-analysis of the literature.
METHODS
A search was performed in PubMed, Embase, Scopus, and PsycINFO through August 2022. Eligible studies included pediatric patients with DS who had undergone any laboratory evaluation of the GHRH-GH-IGF1 axis. Two reviewers independently screened articles for eligibility. Results of each type of test were weighed together in patients both with and without DS and were pooled using a random effects meta-analysis.
RESULTS
In total, 20 studies assessed the GHRH-GH-IGF1 axis function. A defect in three major components of GHRH-GH-IGF1 axis was found in a significant proportion of pediatric DS patients.
CONCLUSIONS
A significant portion of short-stature pathogenesis in children with DS is associated with impaired GHRH-GH-IGF1 axis function.
PubMed: 36911030
DOI: 10.3389/fped.2023.1132296 -
International Journal of Molecular... Aug 2021Down syndrome (DS) is a genetic disorder associated with early-onset periodontitis and other periodontal diseases (PDs). The present work aimed to systematically review... (Meta-Analysis)
Meta-Analysis
Down syndrome (DS) is a genetic disorder associated with early-onset periodontitis and other periodontal diseases (PDs). The present work aimed to systematically review the scientific literature reporting studies in vivo on oral microbiota features in subjects with DS and related periodontal health and to highlight any correlation and difference with subjects not affected by DS, with and without PDs. PubMed, Web of Science, Scopus and Cochrane were searched for relevant studies in May 2021. The participants were subjects affected by Down syndrome (DS) with and without periodontal diseases; the study compared subjects with periodontal diseases but not affected by DS, and DS without periodontal diseases; the outcomes were the differences in oral microbiota/periodontopathogen bacterial composition among subjects considered; the study design was a systematic review. Study quality was assessed with risk of bias in non-randomized studies of interventions (ROBINS-I). Of the 954 references retrieved, 26 studies were considered. The conclusions from the qualitative assessment of the papers revealed an increasing knowledge over the last years of the microbiota associated with DS and their periodontal diseases, in comparison with healthy subjects and subjects with other kinds of mental disabilities. Few data have emerged on the mycobiome and virobiome of DS, hence, further investigations are still necessary.
Topics: Biofilms; Dental Plaque; Down Syndrome; Gingivitis; Humans; Microbiota; Mouth; Periodontal Diseases
PubMed: 34502159
DOI: 10.3390/ijms22179251 -
Pediatric Pulmonology May 2021Airway anomalies are accountable for a substantial part of morbidity and mortality in children with Down syndrome (DS). Although tracheal anomalies occur more often in... (Review)
Review
INTRODUCTION
Airway anomalies are accountable for a substantial part of morbidity and mortality in children with Down syndrome (DS). Although tracheal anomalies occur more often in DS children, a structured overview on the topic is lacking. We systematically reviewed the characteristics of tracheal anomalies in DS children.
METHODS
A MEDLINE and EMBASE search for DS and tracheal anomalies was performed. Tracheal anomalies included tracheal stenosis, complete tracheal ring deformity (CTRD), tracheal bronchus, tracheomalacia, tracheal web, tracheal agenesis or atresia, laryngotracheoesophageal cleft type 3 or 4, trachea sleeve, and absent tracheal rings.
RESULTS
Fifty-nine articles were included. The trachea of DS children is significantly smaller than non-DS children. Tracheomalacia and tracheal bronchus are seen significantly more often in DS children. Furthermore, tracheal stenosis, CTRD, and tracheal compression by vascular structures are seen regularly in children with DS. These findings are reflected by the significantly higher frequency of tracheostomy and tracheoplasty performed in DS children.
CONCLUSION
In children with DS, tracheal anomalies occur more frequently and tracheal surgery is performed more frequently than in non-DS children. When complaints indicative of tracheal airway obstruction like biphasic stridor, dyspnea, or wheezing are present in children with DS, diagnostic rigid laryngotracheobronchoscopy with special attention to the trachea is indicated. Furthermore, imaging studies (computed tomography, magnetic resonance imaging, and ultrasound) play an important role in the workup of DS children with airway symptoms. Management depends on the type, number, and extent of tracheal anomalies. Surgical treatment seems to be the mainstay in severe cases.
Topics: Child; Down Syndrome; Humans; Infant; Larynx; Trachea; Tracheal Diseases; Tracheal Stenosis
PubMed: 33434377
DOI: 10.1002/ppul.25203 -
World Journal of Clinical Pediatrics Nov 2021Pulmonary hypertension (PH) has serious short- and long-term consequences. PH is gaining increasing importance in high risk groups such as Down syndrome (DS) as it...
BACKGROUND
Pulmonary hypertension (PH) has serious short- and long-term consequences. PH is gaining increasing importance in high risk groups such as Down syndrome (DS) as it influences their overall survival and prognosis. Hence, there is a dire need to collate the prevalence rates of PH in order to undertake definitive measures for early diagnosis and management.
AIM
To determine the prevalence of PH in children with DS.
METHODS
The authors individually conducted a search of electronic databases manually (Cochrane library, PubMed, EMBASE, Scopus, Web of Science). Data extraction and quality control were independently performed by two reviewers and a third reviewer resolved any conflicts of opinion. The words used in the literature search were "pulmonary hypertension" and "pulmonary arterial hypertension"; "Down syndrome" and "trisomy 21" and "prevalence". The data were analyzed by Comprehensive Meta-Analysis Software Version 2. Risk of bias assessment and STROBE checklist were used for quality assessment.
RESULTS
Of 1578 articles identified, 17 were selected for final analysis. The pooled prevalence of PH in these studies was 25.5%. Subgroup analysis was carried out for age, gender, region, year of publication, risk of bias and etiology of PH.
CONCLUSION
This review highlights the increasing prevalence of PH in children with DS. It is crucial for pediatricians to be aware of this morbid disease and channel their efforts towards earlier diagnosis and successful management. Community-based studies with a larger sample size of children with DS should be carried out to better characterize the epidemiology and underlying etiology of PH in DS.
PubMed: 34868894
DOI: 10.5409/wjcp.v10.i6.177 -
Cureus Nov 2022Patients with Down syndrome (DS) are commonly diagnosed with congenital heart disease (CHD), which is the leading cause of mortality in this group during the first two... (Review)
Review
Patients with Down syndrome (DS) are commonly diagnosed with congenital heart disease (CHD), which is the leading cause of mortality in this group during the first two years of life. This systematic review and meta-analysis aims to review the current publications to assess the pooled prevalence of overall CHDs in individuals with DS in KSA. We conducted the search on the databases PubMed, EBSCO, Scopus, Web of Science through Clarivate, and Google Scholar using Boolean operators and various keywords. The Rayyan - Intelligent Systematic Reviews website (https://www.rayyan.ai/) was used for citation management and MedCalc® Statistical Software version 20.115 was used for the quantitative data synthesis (MedCalc Software Ltd., 2022, Ostend Belgium). We initially retrieved a total of 402 citations from the primary search and 10 articles were finally included after title screening and full-text assessment. A total of 1590 subjects were enrolled in the pooled analyses. The pooled prevalence of CHDs was found to be 66.1% (95% CI: 57.2% to 74.5%). There was significant heterogeneity (I2 = 92.2%), and inspection of the funnel plot shows the symmetrical distribution of plotted data. According to our study, 66% of DS patients in Saudi Arabia had one or more congenital cardiac defects. Due to the significant inter-study heterogeneity, the reliability of our results is, nevertheless, limited. We advise conducting more research to provide better data for determining the prevalence of CHD.
PubMed: 36540523
DOI: 10.7759/cureus.31638 -
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 -
International Journal of Environmental... Jan 2021The objective of this study is to assess the evidence about the demographic transformation of the Down Syndrome population, with a specific focus on prenatal testing,...
The objective of this study is to assess the evidence about the demographic transformation of the Down Syndrome population, with a specific focus on prenatal testing, and to identify sources frequently used for demographic assessment of Down Syndrome in the world. We reviewed existing studies on demographic transformations in the population with Down Syndrome, specifically birthrate indicators, under the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) Statement. The searches were made in Medline (via EBSCO Host), Academic Search Complete (via EBSCO Host), PsycINFO (via EBSCO Host), Web of Science (Core Collection), Public Health Database (via ProQuest), and The Cochrane Library. The terms were developed through Medical Subject Headings (MESH) and American Psycological Asociation Thesaurus of Psychological Index Terms (APA). Full texts were reviewed if information was given regarding location and birthrate for a range of three years or more, and if the first and last year considered was within 1960 and 2019. We found 22 references with a period of study between 1960 and 2019 following the global spread of prenatal testing for Down Syndrome. We found a consistent association between prenatal diagnosis and birthrate, enough to explain the significant fall in the prevalence of Down Syndrome, a somewhat rising incidence of Down Syndrome related to increased maternal age and extension of fertility services in healthcare systems, a generalized use of specific congenital birth defect registries as the primary source of data, and an unclear influence of socio-cultural and territorial variables. Our findings can inform research, policy, and practice to improve the reproductive health and quality of life of the population with Down Syndrome.
Topics: Birth Rate; Demography; Down Syndrome; Female; Humans; Maternal Age; Pregnancy; Prenatal Diagnosis; Quality of Life; United States
PubMed: 33466470
DOI: 10.3390/ijerph18010352 -
Developmental Neurobiology Jul 2019Down syndrome (DS) occurs due to triplication of chromosome 21. Individuals with DS face an elevated risk for development of Alzheimer's disease (AD) due to increased...
Down syndrome (DS) occurs due to triplication of chromosome 21. Individuals with DS face an elevated risk for development of Alzheimer's disease (AD) due to increased amyloid beta (Aβ) resulting from the over-expression of the amyloid precursor protein found on chromosome 21. Diagnosis of AD among individuals with DS poses particular challenges resulting in an increased focus on alternative diagnostic methods such as blood-based biomarkers. The aim of this review was to evaluate the current state of the literature of blood-based biomarkers found in individuals with DS and particularly among those also diagnosed with AD or in prodromal stages (mild cognitive impairment [MCI]). A systematic review was conducted utilizing a comprehensive search strategy. Twenty-four references were identified, of those, 22 fulfilled inclusion criteria were selected for further analysis with restriction to only plasma-based biomarkers. Studies found Aβ to be consistently higher among individuals with DS; however, the link between Aβ peptides (Aβ1-42 and Aβ1-40) and AD among DS was inconsistent. Inflammatory-based proteins were more reliably found to be elevated leading to preliminary work focused on an algorithmic approach with predominantly inflammatory-based proteins to detect AD and MCI as well as predict risk of incidence among DS. Separate work has also shown remarkable diagnostic accuracy with the use of a single protein (NfL) as compared to combined proteomic profiles. This review serves to outline the current state of the literature and highlights the potential plasma-based biomarkers for use in detecting AD and MCI among this at-risk population.
Topics: Alzheimer Disease; Amyloid beta-Peptides; Animals; Biomarkers; Down Syndrome; Humans; Prodromal Symptoms
PubMed: 31389185
DOI: 10.1002/dneu.22714 -
Scientific Reports Jan 2016As the chromosomal examination of foetal cells for the prenatal diagnosis of Down's syndrome (DS) carries a risk of inducing miscarriage, serum screening tests are... (Meta-Analysis)
Meta-Analysis Review
As the chromosomal examination of foetal cells for the prenatal diagnosis of Down's syndrome (DS) carries a risk of inducing miscarriage, serum screening tests are commonly used before invasive procedures. In this study, a total of 374 records from PubMed, EMBASE, and the ISI Science Citation Index databases were reviewed. As a result of duplication, insufficient data, and inappropriate article types, 18 independent articles containing 183,998 samples were used in the final systematic review and meta-analysis of the diagnostic performance of the serum triple screening test (STS) and the integrated screening test (INS). Data extracted from the selected studies were statistically analysed, and the presence of heterogeneity and publication bias was assessed using specific software. The overall sensitivity, specificity, positive likelihood ratio, negative likelihood ratio, diagnostic odds ratio, and the area under the curve for the STS were 0.77 (95% confidence interval = 0.73-0.81), 0.94 (0.94-0.94), 9.78 (6.87-13.93), 0.26 (0.22-0.31), 44.72 (30.77-65.01), and 0.9064, respectively. For the INS, these values were 0.93 (0.90-0.95), 0.93 (0.93-0.93), 22.38 (12.47-40.14), 0.08 (0.05-0.11), 289.81 (169.08-496.76), and 0.9781, respectively. These results indicate that the INS exhibits better diagnostic value for DS. However, further research is needed to identify other biomarkers to improve prenatal screening tests.
Topics: Biomarkers; Down Syndrome; Female; Humans; Odds Ratio; Pregnancy; Pregnancy Trimesters; Prenatal Diagnosis; Publication Bias; ROC Curve; Reproducibility of Results; Sensitivity and Specificity; Ultrasonography, Prenatal
PubMed: 26732706
DOI: 10.1038/srep18866