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American Journal on Intellectual and... May 2022Down syndrome (DS) research is advancing rapidly, yet efforts have raised ethical questions. This mixed methods study describes views of people with DS (self-advocates)...
Down syndrome (DS) research is advancing rapidly, yet efforts have raised ethical questions. This mixed methods study describes views of people with DS (self-advocates) and their parents regarding medical interventions for DS. Responses from 35/171 (20.5%) self-advocates and 430/867 (49.6%) parents showed the majority of self-advocates were glad they have DS (27/35; 77.1%) and liked who they are (33/35; 94.3%), but did want to learn faster (23/35; 65.7%). Parents much more commonly agreed with a willingness to give medications to prevent Alzheimer's disease (427/429; 99.5%) or blood cancer (428/430; 99.5%) as compared with a medicine to cure DS (225/425; 52.9%). Qualitative comments intertwined DS with identity, yet indicated desire for improved quality of life and opportunities. Responses decoupled DS itself from the complications of DS, with treatment of complications being more acceptable.
Topics: Alzheimer Disease; Down Syndrome; Emotions; Humans; Parents; Quality of Life
PubMed: 35443053
DOI: 10.1352/1944-7558-127.3.194 -
American Journal of Medical Genetics.... Dec 2023Individuals with Down syndrome (DS) experience a range of medical and neurodevelopmental conditions, necessitating systematic study of their occurrence and impact on...
Individuals with Down syndrome (DS) experience a range of medical and neurodevelopmental conditions, necessitating systematic study of their occurrence and impact on neurodevelopmental outcomes. We describe the prevalence and relationships of medical, neurodevelopmental (ND), and mental health (MH) conditions in children with DS. We created a prospective clinical database of individuals with DS, integrated into the workflow of a specialty Down Syndrome Program at a specialty pediatric referral hospital. Conditions were collected through caregiver- and clinician report at clinical visits (N = 599). We calculated frequencies of medical, ND, and MH conditions and then assessed the relationship between medical, ND, and MH conditions using frequencies and comparative statistics. The most frequent co-occurring conditions were vision (72.5%), ear/hearing (71.0%), gastrointestinal (61.3%), respiratory (45.6%), and feeding (33.6%) problems, with variation in frequency by age. ND and MH conditions were reported in one quarter, most commonly autism spectrum disorder and attention-deficit/hyperactivity disorder. Those with ND and MH conditions had greater frequency of medical conditions, with highest rates of vision, ear/hearing, and gastrointestinal issues, and CHD. Systematically collected clinical data in a large cohort of children with DS reveals high prevalence of several co-occurring medical, ND, and MH conditions. Clinical care requires an understanding of the complex relationship between medical conditions and neurodevelopment.
Topics: Child; Humans; Down Syndrome; Autism Spectrum Disorder; Prospective Studies; Attention Deficit Disorder with Hyperactivity; Neurodevelopmental Disorders
PubMed: 37873945
DOI: 10.1002/ajmg.c.32072 -
Revista Chilena de Pediatria Oct 2020In Chile, Down syndrome has a prevalence of 2.5 in 1,000 live births. These patients present more congenital anomalies and comorbidities than the general population,...
INTRODUCTION
In Chile, Down syndrome has a prevalence of 2.5 in 1,000 live births. These patients present more congenital anomalies and comorbidities than the general population, increasing their hospitaliza tion rate.
OBJECTIVE
To describe congenital anomalies and comorbidities of neonates with Down syndrome born and/or hospitalized between 2008 and 2018.
PATIENTS AND METHOD
We conducted a retrospective review of patient's medical records born and/or hospitalized during their first 28 days of life between January 1st, 2008, and December 31st, 2018. For each patient, we recorded maternal age, familiar cases of Down Syndrome, pre and perinatal history, genetic study result, as well as age at admission, reason for hospitalization, comorbidities, length of stay, and death. Two patients that had more than 50% of incomplete medical records were excluded. We studied the associations between comorbidities, congenital anomalies, and death.
RESULTS
140 in 79,506 newborns (0.2%) were diagnosed at our center with Down Syndrome in their neonatal period. 24.7% were born preterm and 26.4% had low birth weight for gestational age. Morbidities and hospitalizations were present in 83.6% and 90%, of the study population, respectively. The main reason for hospitalization was polycythemia and the most frequent was hyperbilirubinemia. Four patients died (2.9%) and 70.7% presented at least one congenital anomaly, mainly heart disease. Median maternal age was 36 years and 57.1% of mothers were aged 35 or older.
CONCLUSIONS
This cohort of patients with Down Syndrome provides important information for the optimization of their perinatal management and follow-up.
Topics: Abnormalities, Multiple; Chile; Comorbidity; Down Syndrome; Female; Follow-Up Studies; Hospitalization; Humans; Infant, Newborn; Logistic Models; Male; Retrospective Studies
PubMed: 33399638
DOI: 10.32641/rchped.vi91i5.1518 -
Current Alzheimer Research 2016
Topics: Alzheimer Disease; Down Syndrome; History, 19th Century; History, 20th Century; Humans
PubMed: 26487155
DOI: 10.2174/1567205012999151021102914 -
Neuroscience Feb 2023Mitochondrial dysfunctions have been described in Down syndrome (DS) caused by either partial or full trisomy of chromosome 21 (HSA21). Mitochondria play a crucial role... (Review)
Review
Mitochondrial dysfunctions have been described in Down syndrome (DS) caused by either partial or full trisomy of chromosome 21 (HSA21). Mitochondria play a crucial role in various vital functions in eukaryotic cells, especially in energy production, calcium homeostasis and programmed cell death. The function of mitochondria is primarily regulated by genes encoded in the mitochondrion and nucleus. Many genes on HSA21 are involved in oxidative phosphorylation (OXPHOS) and regulation of mitochondrial functions. This review highlights the HSA21 dosage-sensitive nuclear-encoded mitochondrial genes associated with overexpression-related phenotypes seen in DS. This includes impaired mitochondrial dynamics, structural defects and dysregulated bioenergetic profiles such as OXPHOS deficiency and reduced ATP production. Various therapeutic approaches for modulating energy deficits in DS, effects and molecular mechanism of gene therapy and drugs that exert protective effects through modulation of mitochondrial function and attenuation of oxidative stress in DS cells were discussed. It is prudent that improving DS pathophysiological conditions or quality of life may be feasible by targeting something as simple as cellular mitochondrial biogenesis and function.
Topics: Humans; Down Syndrome; Quality of Life; Mitochondria; Mitochondrial Diseases; Energy Metabolism
PubMed: 36496187
DOI: 10.1016/j.neuroscience.2022.12.003 -
Italian Journal of Pediatrics Apr 2024Reviews on Down syndrome do not or only marginally address the issue of kidney and urogenital tract abnormalities, and lower urinary tract dysfunctions. Hence, we... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Reviews on Down syndrome do not or only marginally address the issue of kidney and urogenital tract abnormalities, and lower urinary tract dysfunctions. Hence, we performed a meta-analysis of the literature. METHODS: A literature search was undertaken in the Library of Medicine, Web of Science and Excerpta Medica. The search algorithm combined various keywords: (Down syndrome OR trisomy 21 OR mongolism) AND (kidney OR urinary tract OR bladder) AND (malformation OR dysfunction OR anomaly OR abnormality OR size). The Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement was used.
RESULTS
Eight case-control studies were retained for the final analysis. Three studies addressed the prevalence of kidney and urogenital tract abnormalities: an increased pooled relative risk of 5.49 (95%-CI: 1.78-16.93) was observed in Down syndrome. Penile malformations, obstructive malformations (including urethral valves), dilated urinary tract system, and kidney hypodysplasia were especially common. Three reports addressed the prevalence of lower urinary tract dysfunction: an increased pooled relative risk of 2.95 (95%-CI: 1.15-7.56) was observed. Finally, an autoptic study and an ultrasound study disclosed a reduced kidney size in Down syndrome.
CONCLUSIONS
This meta-analysis indicates that abnormalities of the kidney and urogenital tract, lower urinary tract dysfunctions, and a reduced kidney size present with an increased frequency in individuals with Down syndrome.
Topics: Humans; Down Syndrome; Kidney; Urinary Tract; Urogenital Abnormalities
PubMed: 38641829
DOI: 10.1186/s13052-024-01636-7 -
Prenatal Diagnosis Apr 2021The birth prevalence rate of each common autosomal trisomy generally increases with advancing maternal age and there is a substantial fetal loss rate between late first... (Review)
Review
The birth prevalence rate of each common autosomal trisomy generally increases with advancing maternal age and there is a substantial fetal loss rate between late first trimester and term. The literature is reviewed in order to provide the best estimates of these rates, taking account where possible of biases due to prenatal diagnosis and selective termination of pregnancy. There is an almost exponential increase in Down syndrome birth prevalence between ages 15 and 45 but at older ages the curve flattens. There is no evidence of the claimed relatively high birth prevalence at extremely low ages. Gestation-specific intra-uterine fetal loss rates are estimated by follow-up of women declining termination of pregnancy after prenatal diagnosis, comparison of observed rates with those expected from birth prevalence and comparison of age-specific curves developed for prenatal diagnosis and birth. Down syndrome fetal loss rates reduce with gestation and increase with maternal age. Edwards and Patau syndrome birth prevalence is approximately 1/8 and 1/13 that of Down syndrome overall, although the ratio differs according to maternal age, particularly for Patau syndrome where it reduces steadily from 1/9 to 1/19. Fetal loss rates are higher for Edwards and Patau syndromes than for Down syndrome.
Topics: Adolescent; Adult; Age Factors; Chromosome Aberrations; Down Syndrome; Female; Humans; Maternal Age; Middle Aged; Pregnancy; Prenatal Diagnosis
PubMed: 33078428
DOI: 10.1002/pd.5840 -
Neurobiology of Aging Nov 2022This study investigates whether tau has (i) an independent effect from amyloid-β on changes in cognitive and functional performance and (ii) a synergistic relationship...
This study investigates whether tau has (i) an independent effect from amyloid-β on changes in cognitive and functional performance and (ii) a synergistic relationship with amyloid-β in the exacerbation of decline in aging Down syndrome (DS). 105 participants with DS underwent baseline PET [F]-AV1451 and PET [C]PiB scans to quantify tau deposition in Braak regions II-VI and the Striatum and amyloid-β status respectively. Linear Mixed Effects models were implemented to assess how tau and amyloid-β deposition are related to change over three time points. Tau was a significant independent predictor of cognitive and functional change. The three-way interaction between time, [C]PiB status and tau was significant in the models of episodic memory and visuospatial cognition. Baseline tau is a significant predictor of cognitive and functional decline, over and above the effect of amyloid-β status. Results suggest a synergistic relationship between amyloid-β status and tau as predictors of change in memory and visuospatial cognition.
Topics: Amyloid beta-Peptides; Brain; Cognition; Cognitive Aging; Cognitive Dysfunction; Down Syndrome; Humans; Positron-Emission Tomography; tau Proteins
PubMed: 35964542
DOI: 10.1016/j.neurobiolaging.2022.07.003 -
Neurological Sciences : Official... May 2021The aim of the current study was to determine whether COVID-19 is associated with a different presenting clinical picture or a more severe course of illness in people...
PURPOSE
The aim of the current study was to determine whether COVID-19 is associated with a different presenting clinical picture or a more severe course of illness in people with Down syndrome (DS).
METHODS
All consecutive patients who were admitted at healthcare facilities anywhere in Fars province (located in the south of Iran with a population of 4,851,000 people) from 19 February 2020 to 20 November 2020 were included. For every patient with DS, three age- and sex-matched patients with COVID-19 and without any underlying medical conditions were selected as controls.
RESULTS
During the study period, 37,968 patients were hospitalized with a diagnosis of COVID-19. Eighteen patients had DS. Patients with DS were significantly more likely to be intubated [7 patients (39%)] compared with those without DS [3 patients (6%)]; p = 0.002. Patients with DS significantly more often died of COVID-19 compared with the controls [8 (44.4%) vs. 1 (1.9%); odds ratio: 24.37; 95% confidence interval 2.39-247.94; p = 0.007].
CONCLUSION
Patients with DS are among the high-risk populations with respect to severe COVID-19 and should receive the vaccine as soon as possible. Furthermore, they should receive more intensive care if they get hospitalized with the illness.
Topics: COVID-19; Down Syndrome; Hospitalization; Humans; Iran; SARS-CoV-2
PubMed: 33523318
DOI: 10.1007/s10072-021-05091-8 -
The Lancet. Neurology Jan 2022
Topics: Down Syndrome; Humans
PubMed: 34942129
DOI: 10.1016/S1474-4422(21)00411-7