Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study

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

doi:10.1002/ajmg.a.38219

Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study

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

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32 Scopus citations

Abstract

The goals of this undertaking were to assess the outcomes of thyroid screening tests and adherence to thyroid screening guidelines across five Down syndrome (DS) specialty clinics in various states. Data related to thyroid screening were collected for 663 individuals across five clinics specializing in the comprehensive care of individuals with DS for a period of 1 year. Of the 663 participants, 47.7% of participants had a TSH and free T4 ordered at their DS specialty clinic visit. Approximately 19.0% (60/316) had a new thyroid disorder diagnosis made. We conclude that a sizable proportion of the patients with DS are not up-to-date on current guidelines when they present to a DS specialty clinic, while adherence to thyroid screening guidelines helps facilitate early diagnoses. Hypothyroidism is prevalent in the population, consistent with reported literature. DS specialty clinics can help patients stay current on screening guidelines.

Original language	English
Pages (from-to)	1539-1545
Number of pages	7
Journal	American Journal of Medical Genetics, Part A
Volume	173
Issue number	6
DOIs	https://doi.org/10.1002/ajmg.a.38219
State	Published - Jun 2017

Keywords

Down syndrome
patient database
registry
subclinical hypothyroidism
thyroid disease
trisomy 21

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10.1002/ajmg.a.38219

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Lavigne, J., Sharr, C., Elsharkawi, I., Ozonoff, A., Baumer, N., Brasington, C., Cannon, S., Crissman, B., Davidson, E., Florez, J. C., Kishnani, P., Lombardo, A., Lyerly, J., McDonough, M. E., Schwartz, A., Berrier, K., Sparks, S., Stock-Guild, K., Toler, T. L., ... Skotko, B. G. (2017). Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study. American Journal of Medical Genetics, Part A, 173(6), 1539-1545. https://doi.org/10.1002/ajmg.a.38219

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title = "Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study",

abstract = "The goals of this undertaking were to assess the outcomes of thyroid screening tests and adherence to thyroid screening guidelines across five Down syndrome (DS) specialty clinics in various states. Data related to thyroid screening were collected for 663 individuals across five clinics specializing in the comprehensive care of individuals with DS for a period of 1 year. Of the 663 participants, 47.7% of participants had a TSH and free T4 ordered at their DS specialty clinic visit. Approximately 19.0% (60/316) had a new thyroid disorder diagnosis made. We conclude that a sizable proportion of the patients with DS are not up-to-date on current guidelines when they present to a DS specialty clinic, while adherence to thyroid screening guidelines helps facilitate early diagnoses. Hypothyroidism is prevalent in the population, consistent with reported literature. DS specialty clinics can help patients stay current on screening guidelines.",

keywords = "Down syndrome, patient database, registry, subclinical hypothyroidism, thyroid disease, trisomy 21",

author = "Jenifer Lavigne and Christianne Sharr and Ibrahim Elsharkawi and Al Ozonoff 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 McDonough, {Mary Ellen} and Alison Schwartz and Kathryn Berrier and Susan Sparks and Kara Stock-Guild and Toler, {Tomi L.} and Kishore Vellody and Lauren Voelz and Skotko, {Brian G.}",

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year = "2017",

month = jun,

doi = "10.1002/ajmg.a.38219",

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Lavigne, J, Sharr, C, Elsharkawi, I, Ozonoff, A, Baumer, N, Brasington, C, Cannon, S, Crissman, B, Davidson, E, Florez, JC, Kishnani, P, Lombardo, A, Lyerly, J, McDonough, ME, Schwartz, A, Berrier, K, Sparks, S, Stock-Guild, K, Toler, TL, Vellody, K, Voelz, L & Skotko, BG 2017, 'Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study', American Journal of Medical Genetics, Part A, vol. 173, no. 6, pp. 1539-1545. https://doi.org/10.1002/ajmg.a.38219

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AU - Lavigne, Jenifer

AU - Sharr, Christianne

AU - Elsharkawi, Ibrahim

AU - Ozonoff, Al

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 - McDonough, Mary Ellen

AU - Schwartz, Alison

AU - Berrier, Kathryn

AU - Sparks, Susan

AU - Stock-Guild, Kara

AU - Toler, Tomi L.

AU - Vellody, Kishore

AU - Voelz, Lauren

AU - Skotko, Brian G.

PY - 2017/6

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AB - The goals of this undertaking were to assess the outcomes of thyroid screening tests and adherence to thyroid screening guidelines across five Down syndrome (DS) specialty clinics in various states. Data related to thyroid screening were collected for 663 individuals across five clinics specializing in the comprehensive care of individuals with DS for a period of 1 year. Of the 663 participants, 47.7% of participants had a TSH and free T4 ordered at their DS specialty clinic visit. Approximately 19.0% (60/316) had a new thyroid disorder diagnosis made. We conclude that a sizable proportion of the patients with DS are not up-to-date on current guidelines when they present to a DS specialty clinic, while adherence to thyroid screening guidelines helps facilitate early diagnoses. Hypothyroidism is prevalent in the population, consistent with reported literature. DS specialty clinics can help patients stay current on screening guidelines.

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JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 6

ER -

Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study

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