Cardiovascular complications of down syndrome: scoping review and expert consensus

K Dimopoulos, A Constantine, P Clift, R Condliffe… - Circulation, 2023 - Am Heart Assoc
Cardiovascular disease is a leading cause of morbidity and mortality in individuals with
Down syndrome. Congenital heart disease is the most common cardiovascular condition in …

Down syndrome and autoimmune disease

B Hom, NK Boyd, BN Vogel, N Nishimori… - Clinical Reviews in …, 2024 - Springer
Down syndrome is the most common genetic cause of intellectual disability and has
previously been associated with a variety of autoimmune disorders affecting multiple organ …

Triplication of the interferon receptor locus contributes to hallmarks of Down syndrome in a mouse model

KA Waugh, R Minter, J Baxter, C Chi, MD Galbraith… - Nature …, 2023 - nature.com
Down syndrome (DS), the genetic condition caused by trisomy 21, is characterized by
variable cognitive impairment, immune dysregulation, dysmorphogenesis and increased …

Multidimensional definition of the interferonopathy of Down syndrome and its response to JAK inhibition

MD Galbraith, AL Rachubinski, KP Smith, P Araya… - Science …, 2023 - science.org
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 …

Variegated overexpression of chromosome 21 genes reveals molecular and immune subtypes of Down syndrome

MG Donovan, NP Eduthan, KP Smith, EC Britton… - Nature …, 2024 - nature.com
Individuals with Down syndrome, the genetic condition caused by trisomy 21, exhibit strong
inter-individual variability in terms of developmental phenotypes and diagnosis of co …

[HTML][HTML] IGF1 deficiency integrates stunted growth and neurodegeneration in Down syndrome

P Araya, KT Kinning, C Coughlan, KP Smith… - Cell reports, 2022 - cell.com
Down syndrome (DS), the genetic condition caused by trisomy 21 (T21), is characterized by
stunted growth, cognitive impairment, and increased risk of diverse neurological conditions …

Unraveling Down syndrome: from genetic anomaly to artificial intelligence-enhanced diagnosis

AM Koul, F Ahmad, A Bhat, Q Aein, A Ahmad, AA Reshi… - Biomedicines, 2023 - mdpi.com
Down syndrome arises from chromosomal non-disjunction during gametogenesis, resulting
in an additional chromosome. This anomaly presents with intellectual impairment, growth …

Cardiometabolic profiles in children and adults with overweight and obesity and down syndrome

NM Oreskovic, NT Baumer, C Di Camillo… - American Journal of …, 2023 - Wiley Online Library
Individuals with Down syndrome (DS) are at increased risk for being overweight/obese, but
the associated cardiometabolic risk (CR) is not clear. Cross‐sectional anthropometric and …

Multimodal analysis of dysregulated heme metabolism, hypoxic signaling, and stress erythropoiesis in Down syndrome

MG Donovan, AL Rachubinski, KP Smith, P Araya… - Cell reports, 2024 - cell.com
Down syndrome (DS), the genetic condition caused by trisomy 21 (T21), is characterized by
delayed neurodevelopment, accelerated aging, and increased risk of many co-occurring …

[HTML][HTML] Prevalence of mental health conditions among 6078 individuals with Down syndrome in the United States

A Rivelli, V Fitzpatrick, S Chaudhari… - Journal of Patient …, 2022 - ncbi.nlm.nih.gov
Findings from a recent study of the largest documented cohort of individuals with Down
syndrome (DS) in the United States described prevalence of common disease conditions …