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Frontiers in Endocrinology 2023To analyze and determine the safety and efficacy of growth hormone (GH) treatment in Down syndrome (DS) pediatric patients and to weigh ethical aspects involved. (Meta-Analysis)
Meta-Analysis
OBJECTIVE
To analyze and determine the safety and efficacy of growth hormone (GH) treatment in Down syndrome (DS) pediatric patients and to weigh ethical aspects involved.
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 those who answered at least one of the following two questions: 1) What is the effect of growth hormone treatment in children with Down syndrome? 2) What are the ethical arguments in favor and against growth hormone treatment for children with Down syndrome? Multiple reviewers independently screened each article for eligibility.
RESULTS
In total sixteen reports detailed medical effects of GH treatment in pediatric DS patients and eight studies dealt with ethical aspects of GH treatment. Treatment with GH resulted in significantly higher growth velocity in patients with DS. The ethical complexity is great but does not present insurmountable difficulties to the therapeutic option.
CONCLUSIONS
As GH treatment is safe and effective for short-term height growth, GH therapy should be considered in long-term treatment of DS children.
Topics: Humans; Child; Human Growth Hormone; Down Syndrome; Body Height; Insulin-Like Growth Factor I
PubMed: 37152958
DOI: 10.3389/fendo.2023.1135768 -
Science Advances Jun 2023Individuals with Down syndrome (DS) display chronic hyperactivation of interferon signaling. However, the clinical impacts of interferon hyperactivity in DS are...
Individuals with Down syndrome (DS) display chronic hyperactivation of interferon signaling. However, the clinical impacts of interferon hyperactivity in DS are ill-defined. Here, we describe a multiomics investigation of interferon signaling in hundreds of individuals with DS. Using interferon scores derived from the whole blood transcriptome, we defined the proteomic, immune, metabolic, and clinical features associated with interferon hyperactivity in DS. Interferon hyperactivity associates with a distinct proinflammatory phenotype and dysregulation of major growth signaling and morphogenic pathways. Individuals with the highest interferon activity display the strongest remodeling of the peripheral immune system, including increased cytotoxic T cells, B cell depletion, and monocyte activation. Interferon hyperactivity accompanies key metabolic changes, most prominently dysregulated tryptophan catabolism. High interferon signaling stratifies a subpopulation with elevated rates of congenital heart disease and autoimmunity. Last, a longitudinal case study demonstrated that JAK inhibition normalizes interferon signatures with therapeutic benefit in DS. Together, these results justify the testing of immune-modulatory therapies in DS.
Topics: Humans; Down Syndrome; Proteomics; Interferons; Autoimmunity; Signal Transduction
PubMed: 37379383
DOI: 10.1126/sciadv.adg6218 -
Survey of Ophthalmology 2022The trisomy of chromosome 21, the smallest autosome, is associated with significant systemic manifestations in addition to intellectual disability. The triplication of... (Review)
Review
The trisomy of chromosome 21, the smallest autosome, is associated with significant systemic manifestations in addition to intellectual disability. The triplication of this chromosome, known as Down syndrome (DS) is also associated with several manifestations in the eye, and ocular adnexae. People with DS have a variety of ophthalmic conditions, some of which require intervention. The variable systemic and ophthalmic presentations in DS can make the delivery of eye care challenging. We highlight common ophthalmic presentations in people with DS, as well as the practical implications of delivering eye examinations for this complex needs population. We aim to aid clinicians involved in the ophthalmic care of people with DS in both clinical and research settings.
Topics: Down Syndrome; Eye Diseases; Face; Humans
PubMed: 35367480
DOI: 10.1016/j.survophthal.2022.03.006 -
Free Radical Biology & Medicine Jan 2018
Topics: Adult; Alzheimer Disease; Developmental Disabilities; Down Syndrome; Humans
PubMed: 29079527
DOI: 10.1016/j.freeradbiomed.2017.10.374 -
Archives of Disease in Childhood May 2019
Topics: Adolescent; Attitude to Health; Continuity of Patient Care; Down Syndrome; Humans; Interpersonal Relations; Male; Professional-Patient Relations; Self Concept
PubMed: 30366989
DOI: 10.1136/archdischild-2018-315882 -
Current Opinion in Psychiatry May 2020People with Down syndrome represent the world's largest population with a genetic risk for Alzheimer's disease. This review will provide a short summary of what is known... (Review)
Review
PURPOSE OF REVIEW
People with Down syndrome represent the world's largest population with a genetic risk for Alzheimer's disease. This review will provide a short summary of what is known and will include recent findings from the field.
RECENT FINDINGS
There has been an increasing focus on biomarker research in this population, with a number of studies presenting findings on promising new markers - Neurofilament Light (NfL) appears to be one such promising marker that has emerged. Imaging studies have increased our knowledge on the progression of Alzheimer's disease in this population.
SUMMARY
The inclusion of people with Down syndrome in dementia research is vital from a scientific and an equity perspective. Recent advances in the field can have further impact with multisite, cross country collaborative efforts. For this to happen, instruments need to be validated across language and cultures.
Topics: Alzheimer Disease; Biomarkers; Disease Progression; Down Syndrome; Humans
PubMed: 32049764
DOI: 10.1097/YCO.0000000000000589 -
Medicina (Kaunas, Lithuania) Mar 2021The role of bruxism in children and adolescents with Down syndrome, the most often diagnosed congenital syndrome, is still unclear. Therefore, this study aims to conduct... (Review)
Review
The role of bruxism in children and adolescents with Down syndrome, the most often diagnosed congenital syndrome, is still unclear. Therefore, this study aims to conduct a narrative review of the literature about bruxism in children and adolescents with Down syndrome to identify the prevalence, risk factors, and possible treatments of this disorder. Although an accurate estimate of its prevalence could not be inferred, it appears that bruxism is more prevalent in Down syndrome individuals rather than in the general pediatric population. No gender difference was observed, but a reduction in its prevalence was described with increasing age (around 12 years). The variability in the diagnostic techniques contributed to the heterogeneity of the literature data. Clinicopathological features of Down syndrome, such as muscle spasticity, oral breathing, and a predisposition to obstructive sleep apnea, may suggest a higher prevalence of bruxism in this patient group. Finally, given the paucity of studies on the management of bruxism in this population, it was not possible to outline a standard protocol for the non-invasive treatment of cases in which an observational approach is not sufficient.
Topics: Adolescent; Child; Down Syndrome; Humans; Prevalence; Risk Factors; Sleep Apnea, Obstructive; Sleep Bruxism
PubMed: 33804484
DOI: 10.3390/medicina57030224 -
Molecular Medicine (Cambridge, Mass.) Mar 2018Trisomy of chromosome 21 (TS21) is the most common autosomal aneuploidy compatible with postnatal survival with a prevalence of 1 in 700 newborns. Its phenotype is... (Review)
Review
Trisomy of chromosome 21 (TS21) is the most common autosomal aneuploidy compatible with postnatal survival with a prevalence of 1 in 700 newborns. Its phenotype is highly complex with constant features, such as mental retardation, dysmorphic traits and hypotonia, and variable features including heart defects, susceptibility to Alzheimer's disease (AD), type 2 diabetes, obesity and immune disorders. Overexpression of genes on chromosome-21 (Hsa21) is responsible for the pathogenesis of Down syndrome (DS) phenotypic features either in a direct or in an indirect manner since many Hsa21 genes can affect the expression of other genes mapping to different chromosomes. Many of these genes are involved in mitochondrial function and energy conversion, and play a central role in the mitochondrial dysfunction and chronic oxidative stress, consistently observed in DS subjects.Recent studies highlight the deep interconnections between mitochondrial dysfunction and DS phenotype. In this short review we first provide a basic overview of mitochondrial phenotype in DS cells and tissues. We then discuss how specific Hsa21 genes may be involved in determining the disruption of mitochondrial DS phenotype and biogenesis. Finally we briefly focus on drugs that affect mitochondrial function and mitochondrial network suggesting possible therapeutic approaches to improve and/or prevent some aspects of the DS phenotype.
Topics: Animals; Down Syndrome; Humans; Mitochondria
PubMed: 30134785
DOI: 10.1186/s10020-018-0004-y -
JAMA May 2020
Topics: Child Psychiatry; Down Syndrome; Eisenmenger Complex; Female; Heart Failure; Hope; Humans; Patient Acceptance of Health Care; Psychology, Child
PubMed: 32396184
DOI: 10.1001/jama.2020.4508 -
JAMA Dec 2019
Topics: Adolescent; Celiac Disease; Delayed Diagnosis; Down Syndrome; Humans; Male; Physician-Patient Relations; Quality of Health Care
PubMed: 31794628
DOI: 10.1001/jama.2019.18730