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

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

doi:10.1002/ajmg.a.37267

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

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. TolerKishore Vellody, Lauren Voelz, Brian G. Skotko

Research output: Contribution to journal › Comment/debate

19 Scopus citations

Abstract

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 collected prospective, longitudinal data on medical conditions that co-occur with DS. Data were entered by clinical staff or trained designees into the National Down Syndrome Patient Database, which we created using REDCap software. In our pilot year, we enrolled 663 participants across the U.S., ages 36 days to 70 years, from multiple racial and ethnic backgrounds. Here we report: (i) the demographic distribution of participants enrolled, (ii) a detailed account of our database infrastructure, and (iii) lessons learned during our pilot year to assist future researchers with similar goals for other patient populations.

Original language	English
Pages (from-to)	2520-2526
Number of pages	7
Journal	American Journal of Medical Genetics, Part A
Volume	167
Issue number	11
DOIs	https://doi.org/10.1002/ajmg.a.37267
State	Published - Nov 2015

Keywords

Down syndrome
Patient database
Registry
Trisomy 21

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Lavigne, J., Sharr, C., Ozonoff, A., Prock, L. A., Baumer, N., Brasington, C., Cannon, S., Crissman, B., Davidson, E., Florez, J. C., Kishnani, P., Lombardo, A., Lyerly, J., McCannon, J. B., McDonough, M. E., Schwartz, A., Berrier, K. L., Sparks, S., Stock-Guild, K., ... Skotko, B. G. (2015). National down syndrome patient database: Insights from the development of a multi-center registry study. American Journal of Medical Genetics, Part A, 167(11), 2520-2526. https://doi.org/10.1002/ajmg.a.37267

@article{9318dd7a5e2049d3b47d2d39418ffab1,

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

abstract = "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 collected prospective, longitudinal data on medical conditions that co-occur with DS. Data were entered by clinical staff or trained designees into the National Down Syndrome Patient Database, which we created using REDCap software. In our pilot year, we enrolled 663 participants across the U.S., ages 36 days to 70 years, from multiple racial and ethnic backgrounds. Here we report: (i) the demographic distribution of participants enrolled, (ii) a detailed account of our database infrastructure, and (iii) lessons learned during our pilot year to assist future researchers with similar goals for other patient populations.",

keywords = "Down syndrome, Patient database, Registry, Trisomy 21",

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

note = "Publisher Copyright: {\textcopyright} 2015 Wiley Periodicals, Inc.",

year = "2015",

month = nov,

doi = "10.1002/ajmg.a.37267",

language = "English",

volume = "167",

pages = "2520--2526",

journal = "American Journal of Medical Genetics, Part A",

issn = "1552-4825",

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Lavigne, J, Sharr, C, Ozonoff, A, Prock, LA, Baumer, N, Brasington, C, Cannon, S, Crissman, B, Davidson, E, Florez, JC, Kishnani, P, Lombardo, A, Lyerly, J, McCannon, JB, McDonough, ME, Schwartz, A, Berrier, KL, Sparks, S, Stock-Guild, K, Toler, TL, Vellody, K, Voelz, L & Skotko, BG 2015, 'National down syndrome patient database: Insights from the development of a multi-center registry study', American Journal of Medical Genetics, Part A, vol. 167, no. 11, pp. 2520-2526. https://doi.org/10.1002/ajmg.a.37267

TY - JOUR

T1 - National down syndrome patient database

T2 - Insights from the development of a multi-center registry study

AU - Lavigne, Jenifer

AU - Sharr, Christianne

AU - Ozonoff, Al

AU - Prock, Lisa Albers

AU - Baumer, Nicole

AU - Brasington, Campbell

AU - Cannon, Sheila

AU - Crissman, Blythe

AU - Davidson, Emily

AU - Florez, Jose C.

AU - Kishnani, Priya

AU - Lombardo, Angela

AU - Lyerly, Jordan

AU - McCannon, Jessica B.

AU - McDonough, Mary Ellen

AU - Schwartz, Alison

AU - Berrier, Kathryn L.

AU - Sparks, Susan

AU - Stock-Guild, Kara

AU - Toler, Tomi L.

AU - Vellody, Kishore

AU - Voelz, Lauren

AU - Skotko, Brian G.

PY - 2015/11

Y1 - 2015/11

N2 - 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 collected prospective, longitudinal data on medical conditions that co-occur with DS. Data were entered by clinical staff or trained designees into the National Down Syndrome Patient Database, which we created using REDCap software. In our pilot year, we enrolled 663 participants across the U.S., ages 36 days to 70 years, from multiple racial and ethnic backgrounds. Here we report: (i) the demographic distribution of participants enrolled, (ii) a detailed account of our database infrastructure, and (iii) lessons learned during our pilot year to assist future researchers with similar goals for other patient populations.

AB - 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 collected prospective, longitudinal data on medical conditions that co-occur with DS. Data were entered by clinical staff or trained designees into the National Down Syndrome Patient Database, which we created using REDCap software. In our pilot year, we enrolled 663 participants across the U.S., ages 36 days to 70 years, from multiple racial and ethnic backgrounds. Here we report: (i) the demographic distribution of participants enrolled, (ii) a detailed account of our database infrastructure, and (iii) lessons learned during our pilot year to assist future researchers with similar goals for other patient populations.

KW - Down syndrome

KW - Patient database

KW - Registry

KW - Trisomy 21

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U2 - 10.1002/ajmg.a.37267

DO - 10.1002/ajmg.a.37267

M3 - Comment/debate

C2 - 26249752

AN - SCOPUS:84947034430

SN - 1552-4825

VL - 167

SP - 2520

EP - 2526

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 11

ER -

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

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