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American Journal of Medical Genetics.... Aug 2022Down Syndrome (DS) is one of the most common chromosomal disorders worldwide, and people with DS experience more co-morbidities and have poorer health outcomes compared... (Review)
Review
Down Syndrome (DS) is one of the most common chromosomal disorders worldwide, and people with DS experience more co-morbidities and have poorer health outcomes compared to the general population. An area that is not well understood is how patients with DS transition from pediatric to adult care, as well as the details, barriers, and difficulties of these transitions for patients. Hence, we aimed to provide a scoping review of the literature in PubMed, Scopus, and CINAHL on the topic of healthcare transitions (HCTs) for patients with DS. Findings suggest patients with DS who continued receiving care as an adult from a pediatric care provider tended to experience co-morbidities and other adverse health issues at higher rates than those who entirely switch to an adult-care team. Patients with DS were unable to undergo transition due to multiple barriers, such as low income, limited/public insurance, gender, and race. We propose potential steps for transition, which focus on ensuring early planning, communicating better, coordinating services, assessing decision-making capacity, and providing ongoing social and financial support. Future research must further identify and address barriers to HCTs for people with DS.
Topics: Adult; Child; Down Syndrome; Humans; Population Groups; Transition to Adult Care
PubMed: 35686676
DOI: 10.1002/ajmg.a.62854 -
Frontiers in Endocrinology 2023
Topics: Humans; Down Syndrome; Endocrine System; Hypothyroidism
PubMed: 38164491
DOI: 10.3389/fendo.2023.1336637 -
Journal of Clinical Laboratory Analysis Jan 2024Periodontal diseases (PDs) have been documented to be significantly more prevalent and severe in patients with Down syndrome (DS). Different immunological and... (Review)
Review
BACKGROUND
Periodontal diseases (PDs) have been documented to be significantly more prevalent and severe in patients with Down syndrome (DS). Different immunological and microbiological factors contributed to predisposing these patients to progressive and recurrent PDs.
AIM
The aim of this review was to investigate the altered immunological responses and oral microbiota disorders as well as focus on adjunctive non-surgical methods for the treatment of PDs and its applicability in patients with DS.
MATERIAL AND METHODS
A literature review was conducted addressing the following topics: (1) the altered immunological responses, (2) orofacial disorders related to DS patients, (3) oral microbiota changing, and (4) adjunctive non-surgical treatment and its efficacy in patients with DS.
RESULTS
Due to the early onset of PDs in children with DS, the need for prompt and effective treatment in these patients is essential.
DISCUSSION AND CONCLUSION
So, investigating underlying factors may open a new window to better understand the pathology of PDs in DS people and thus, find better strategies for treatment in such group. Although non-surgical treatments such as photodynamic therapy and probiotic consumption represented acceptable outcomes in different examined patients without DS, data about the application of these convenience and no need for local anesthesia methods in patients with DS is limited.
Topics: Child; Humans; Down Syndrome; Periodontal Diseases; Treatment Outcome; Causality
PubMed: 38254289
DOI: 10.1002/jcla.25002 -
Journal of Neurodevelopmental Disorders Jun 2022Down syndrome regression disorder is a symptom cluster consisting of neuropsychiatric regression without cause. This study evaluated the incidence of neurodiagnostic...
BACKGROUND
Down syndrome regression disorder is a symptom cluster consisting of neuropsychiatric regression without cause. This study evaluated the incidence of neurodiagnostic abnormalities in individuals with Down syndrome regression disorder and determined if abnormalities are indicative of responses to therapeutic intervention.
METHODS
A retrospective, multi-center, case-control study was performed. Patients were required to have subacute onset and the presence of four of five symptom groups present (cognitive decline, expressive language, sleep derangement, loss of ability to perform activities of daily living, and/or a new movement disorder) and no other explanation for symptoms.
RESULTS
Individuals with Down syndrome regression disorder were comparable to a cohort of individuals with only Down syndrome although had higher rates of autoimmune disease (p = 0.02, 95%CI 1.04-1.75). Neurodiagnostic abnormalities were found on EEG (n = 19, 26%), neuroimaging (n = 16, 22%), and CSF (n = 9, 17%). Pleocytosis was appreciated in five cases, elevated total protein in nine, elevated IgG index in seven, and oligoclonal bands in two. Testing within 2 years of symptom onset was more likely to have neurodiagnostic abnormalities (p = 0.01, 95%CI 1.64-37.06). In individuals with neurodiagnostic abnormalities, immunotherapy was nearly four times more likely to have a therapeutic effect than in those without neurodiagnostic abnormalities (OR 4.11, 95%CI 1.88-9.02). In those with normal neurodiagnostic studies (n = 43), IVIg was effective in 14 of 17 (82%) patients as well although other immunotherapies were uniformly ineffective.
CONCLUSIONS
This study reports the novel presence of neurodiagnostic testing abnormalities in individuals with Down syndrome regression disorder, providing credence to this symptom cluster potentially being of neurologic and/or neuroimmunologic etiology.
Topics: Activities of Daily Living; Case-Control Studies; Down Syndrome; Humans; Immunotherapy; Neuroinflammatory Diseases; Retrospective Studies
PubMed: 35659536
DOI: 10.1186/s11689-022-09446-w -
Journal of the American Board of Family... 2020To describe demographic factors and calculate prevalence of heart disease-related conditions among the adult Down syndrome (DS) sample population and to compare...
PURPOSE
To describe demographic factors and calculate prevalence of heart disease-related conditions among the adult Down syndrome (DS) sample population and to compare demographic and heart disease-related conditions between the DS sample population (n = 2342) and the general population.
METHODS
Using a retrospective, descriptive cohort study design, analyses were based on 20 years of data collected on the Adult Down Syndrome Center patient population. Prevalence of heart disease, stroke, and associated risk conditions are reported as counts (%) with corresponding odds ratio (OR) indicating odds of diagnosis among the DS sample compared with the general population. Corresponding Pearson c-values were calculated to represent statistically significant differences between prevalence of diagnoses in the DS sample compared with the general population. In cases where prevalence was low, Fisher's Exact Test -value were calculated.
RESULTS
Adults with DS had lower odds of diagnosis of heart disease and most associated risk conditions, specifically coronary heart disease (OR = 0.0537, .0001), heart failure (OR = 0.6353, .0091), hypertension (OR = 0.0325, .0001), diabetes (OR = 0.4840, .0001), and high total cholesterol (OR = 0.2086, .0001), while experiencing higher odds of overweight status (OR = 1.2185, .0002) and obese status (OR = 1.3238, .0001).
CONCLUSION
Adults with DS generally experience less heart disease and associated risk conditions commonly seen in the general population. Prevention and treatment guidelines for heart disease for the DS population should be adjusted after more research is conducted.
Topics: Adult; Cohort Studies; Down Syndrome; Heart Diseases; Humans; Prevalence; Retrospective Studies
PubMed: 33219071
DOI: 10.3122/jabfm.2020.06.190425 -
Journal of Assisted Reproduction and... Jul 2022The use of assisted reproductive technology (ART) and prenatal genetic testing have become more widespread in line with an increase in maternal age. However, the effect...
PURPOSE
The use of assisted reproductive technology (ART) and prenatal genetic testing have become more widespread in line with an increase in maternal age. However, the effect of the introduction of non-invasive prenatal testing (NIPT) in April 2013 on pregnancy outcomes in Japan, including the prevalence of Down syndrome live births following ART, has not been investigated. This study aimed to evaluate the trends in the prevalence of Down syndrome live births following ART in Japan.
METHODS
This population-based retrospective study used the Japanese nationwide ART registry. All clinical pregnancies resulting in live births, stillbirths, and termination of pregnancy (TOP) following ART from 2007 to 2016 were included. Pregnancy outcomes involving infants with Down syndrome were evaluated.
RESULTS
Among 351,808 pregnancies, the proportion of mothers with advanced age increased significantly from 2007 to 2016 (from 49.5 to 62.4% and 8.9 to 17.8% for mothers aged ≥ 35 and ≥ 40 years, respectively). The proportion of live births with Down syndrome was 77.3% in 2007, which remained consistent until 2012, but then decreased significantly to 45.1% after 2013 (P < 0.001). The prevalence of Down syndrome live births increased up to 2012 (19.5/10,000 live births), decreased significantly in 2013 (12.1/10,000 live births), and then remained almost stable (11.1-14.7/10,000 live births).
CONCLUSION
The introduction of NIPT balanced the prevalence of Down syndrome live births following ART with recent increasing maternal age in Japan.
Topics: Down Syndrome; Female; Humans; Infant; Japan; Live Birth; Pregnancy; Reproductive Techniques, Assisted; Retrospective Studies
PubMed: 35597856
DOI: 10.1007/s10815-022-02501-4 -
JNMA; Journal of the Nepal Medical... Oct 2023The screening of Down's syndrome by the measurement of serum markers using dual and quadruple tests in the second trimester is done among obstetric patients between 13...
INTRODUCTION
The screening of Down's syndrome by the measurement of serum markers using dual and quadruple tests in the second trimester is done among obstetric patients between 13 to 22 weeks of gestation. The test readings are signified in terms of low-risk or high-risk. The aim of this study was to find out the prevalence of Downs syndrome screening among pregnant women visiting the Department of Obstetrics and Gynaecology of a tertiary care centre.
METHODS
A descriptive cross-sectional study was conducted from 15 April 2022 to 15 December 2022 among patients visiting the Department of Obstetrics and Gynecology of a tertiary care centre. Ethical approval was taken from the Institutional Review Committee. Women with a singleton pregnancy who underwent dual and quadruple screening tests at 11 to 22 weeks of gestation were taken and analysed as per reports. Convenience sampling method was used. The point estimate was calculated at a 95% Confidence Interval.
RESULTS
Among 268 women, Down syndrome screening was done in 200 (74.63%) (69.42-79.84, 95% Confidence Interval). Among them, 168 (84%) had a low risk for Down syndrome, and 32 (16%) had a high risk for Down syndrome.
CONCLUSIONS
The prevalence of Downs syndrome screening among pregnant women visiting the Department of Obstetrics and Gynecology of a tertiary care centre was found to be similar to other studies done in similar settings.
KEYWORDS
down syndrome; nuchal translucency; screening.
Topics: Pregnancy; Humans; Female; Down Syndrome; Maternal Age; Gynecology; Pregnant Women; Pregnancy Trimester, First; Tertiary Care Centers; Cross-Sectional Studies
PubMed: 38289779
DOI: 10.31729/jnma.8293 -
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 -
Pharmacotherapy Feb 2017Down syndrome (DS; trisomy 21) is the most common survivable disorder due to aneuploidy. Individuals with DS may experience multiple comorbid health problems including... (Review)
Review
Down syndrome (DS; trisomy 21) is the most common survivable disorder due to aneuploidy. Individuals with DS may experience multiple comorbid health problems including congenital heart defects, endocrine abnormalities, skin and dental problems, seizure disorders, leukemia, dementia, and obesity. These associated conditions may necessitate pharmacotherapeutic management with various drugs. The complex pathobiology of DS may alter drug disposition and drug response in some individuals. For example, reports have documented increased rates of adverse drug reactions in patients with DS treated for leukemia and dementia. Intellectual disability resulting from DS may impact adherence to medication regimens. In this review, we highlight literature focused on pharmacotherapy for individuals with DS. We discuss reports of altered drug disposition or response in patients with DS and explore social factors that may impact medication adherence in the DS setting. Enhanced monitoring during drug therapy in individuals with DS is justified based on reports of altered drug disposition, drug response, and other characteristics present in this population.
Topics: Down Syndrome; Drug Monitoring; Drug-Related Side Effects and Adverse Reactions; Humans; Medication Adherence; Pharmaceutical Preparations
PubMed: 27931082
DOI: 10.1002/phar.1880 -
Nature Reviews. Immunology Apr 2023The immune system in individuals with Down syndrome is characterized by steady state increases in cytokine expression, T cell activation, atypical B cell responses and...
The immune system in individuals with Down syndrome is characterized by steady state increases in cytokine expression, T cell activation, atypical B cell responses and the presence of numerous autoantibodies.
Topics: Humans; Down Syndrome; Immune System Diseases
PubMed: 36914822
DOI: 10.1038/s41577-023-00855-z