Craniofacial features as assessed by lateral cephalometric measurements in children with Down syndrome

Autor: Veerasathpurush Allareddy, Nicholas Ching, Eric A. Macklin, Lauren Voelz, Gil Weintraub, Emily Davidson, Lisa Albers Prock, Dennis Rosen, Richard Brunn, Brian G. Skotko

Publikováno v: Progress in Orthodontics, Vol 17, Iss 1, Pp 1-12 (2016)

Abstract Objective The objective of the present study is to examine the craniofacial development of patients with Down syndrome (DS) and compare them with a neurotypical population. Methods This study is a cross-sectional analysis of lateral cephalom

Externí odkaz: https://doaj.org/article/5ee531b42eb04ff5974c40103c6a161a

Urinary biomarkers and obstructive sleep apnea in patients with Down syndrome

Autor: Brian G. Skotko, Eric A. Macklin, Ibrahim Elsharkawi, Gil S. Weintraub, Lauren Voelz, David Gozal

Publikováno v: Sleep Medicine. 34:84-89

Study objectives The study aimed to compare urinary biomarkers in patients with Down syndrome (DS) with and without obstructive sleep apnea (OSA) to those of age- and sex-matched neurotypically developing healthy controls (HC). We further investigate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a46013d9566e79c9c4d2b38f02d482c
https://doi.org/10.1016/j.sleep.2017.02.005

A predictive model for obstructive sleep apnea and Down syndrome

Autor: Yasas S. N. Jayaratne, Marco Muselli, Gil S. Weintraub, Eric A. Macklin, Richard A. Bruun, Brian G. Skotko, David Gozal, Dennis Rosen, Lauren Voelz, Veerasathpurush Allareddy, Emily Davidson, Mary Ellen McDonough, Nicholas Ching

Publikováno v: American journal of medical genetics. Part A 173 (2017): 889–896. doi:10.1002/ajmg.a.38137
info:cnr-pdr/source/autori:Skotko, Brian G.; Macklin, Eric A.; Muselli, Marco; Voelz, Lauren; McDonough, Mary Ellen; Davidson, Emily; Allareddy, Veerasathpurush; Jayaratne, Yasas S. N.; Bruun, Richard; Ching, Nicholas; Weintraub, Gil; Gozal, David; Rosen, Dennis/titolo:A predictive model for obstructive sleep apnea and Down syndrome/doi:10.1002%2Fajmg.a.38137/rivista:American journal of medical genetics. Part A/anno:2017/pagina_da:889/pagina_a:896/intervallo_pagine:889–896/volume:173
Am J Med Genet A

Obstructive sleep apnea (OSA) occurs frequently in people with Down syndrome (DS) with reported prevalences ranging between 55% and 97%, compared to 1–4% in the neurotypical pediatric population. Sleep studies are often uncomfortable, costly, and p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ac1c253e0796dc5ee4f13c3eec514d7
https://doi.org/10.1002/ajmg.a.38137

Detecting celiac disease in patients with Down syndrome

Autor: Tomi L. Toler, Kishore Vellody, Christianne Sharr, Blythe G. Crissman, Brian G. Skotko, Alison Schwartz, Priya S. Kishnani, Lauren Voelz, Nicole Bäumer, Emily Davidson, Mary Ellen McDonough, Jenifer Lavigne, Susan Sparks, Kara Stock-Guild, Kathryn L. Berrier, Sheila Cannon, Angela Lombardo, Ibrahim Elsharkawi, Al Ozonoff, Jose C. Florez, Campbell Brasington, Jordan Lyerly

Publikováno v: American Journal of Medical Genetics Part A. 170:3098-3105

The main purposes of this undertaking were to determine how often patients with Down syndrome (DS) are screened for celiac disease (CD) across five DS specialty clinics, which symptoms of CD are most often reported to DS specialty providers at these

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cd6203204c31806ff3fe0331ec49445
https://doi.org/10.1002/ajmg.a.37879

National down syndrome patient database: Insights from the development of a multi-center registry study

Autor: Jenifer, Lavigne, Christianne, Sharr, Al, Ozonoff, Lisa Albers, Prock, Nicole, Baumer, Campbell, Brasington, Sheila, Cannon, Blythe, Crissman, Emily, Davidson, Jose C, Florez, Priya, Kishnani, Angela, Lombardo, Jordan, Lyerly, Jessica B, McCannon, Mary Ellen, McDonough, Alison, Schwartz, Kathryn L, Berrier, Susan, Sparks, Kara, Stock-Guild, Tomi L, Toler, Kishore, Vellody, Lauren, Voelz, Brian G, Skotko

Publikováno v: American journal of medical genetics. Part A. (11)

The Down Syndrome Study Group (DSSG) was founded in 2012 as a voluntary, collaborative effort with the goal of supporting evidenced-based health care guidelines for individuals with Down syndrome (DS). Since then, 5 DS specialty clinics have collecte

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0f61c517b33c95cfe3f6856482679fcd
https://pubmed.ncbi.nlm.nih.gov/26249752