Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study.
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.
Department of Pediatrics, Clinical Genetics, Levine Children's Hospital at Carolinas Healthcare System, Charlotte, North Carolina.
Jenifer
J
Lavigne
Down Syndrome Program, Division of Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts.
Christianne
C
Sharr
Down Syndrome Program, Division of Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts.
Ibrahim
http://orcid.org/0000-0002-3930-7160
I
Elsharkawi
Harvard Medical School, Boston, Massachusetts.|Center for Patient Safety and Quality Research, Program for Patient Safety and Quality, Boston Children's Hospital, Boston, Massachusetts.
Al
http://orcid.org/0000-0003-4233-5899
A
Ozonoff
Harvard Medical School, Boston, Massachusetts.|Down Syndrome Program, Division of Developmental Medicine, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts.
Nicole
N
Baumer
Department of Pediatrics, Clinical Genetics, Levine Children's Hospital at Carolinas Healthcare System, Charlotte, North Carolina.
Campbell
C
Brasington
Down Syndrome Center of Western Pennsylvania, Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.
Sheila
S
Cannon
Comprehensive Down Syndrome Program, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina.
Blythe
B
Crissman
Harvard Medical School, Boston, Massachusetts.|Down Syndrome Program, Division of Developmental Medicine, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts.
Emily
E
Davidson
Down Syndrome Program, Division of Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts.|Harvard Medical School, Boston, Massachusetts.
Jose C
http://orcid.org/0000-0002-1730-9325
JC
Florez
Comprehensive Down Syndrome Program, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina.
Priya
http://orcid.org/0000-0001-8251-909X
P
Kishnani
Down Syndrome Program, Division of Developmental Medicine, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts.
Angela
A
Lombardo
Department of Pediatrics, Clinical Genetics, Levine Children's Hospital at Carolinas Healthcare System, Charlotte, North Carolina.
Jordan
J
Lyerly
Down Syndrome Program, Division of Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts.
Mary Ellen
ME
McDonough
Down Syndrome Program, Division of Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts.|Harvard Medical School, Boston, Massachusetts.
Alison
A
Schwartz
Comprehensive Down Syndrome Program, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina.
Kathryn
http://orcid.org/0000-0003-3510-6836
K
Berrier
Department of Pediatrics, Clinical Genetics, Levine Children's Hospital at Carolinas Healthcare System, Charlotte, North Carolina.
Susan
S
Sparks
Down Syndrome Program, Division of Developmental Medicine, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts.
Kara
K
Stock-Guild
Down Syndrome Program, Division of Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts.
Tomi L
http://orcid.org/0000-0002-1637-8310
TL
Toler
Down Syndrome Center of Western Pennsylvania, Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.
Kishore
K
Vellody
Down Syndrome Program, Division of Developmental Medicine, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts.
Lauren
L
Voelz
Down Syndrome Program, Division of Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts.|Harvard Medical School, Boston, Massachusetts.
Brian G
http://orcid.org/0000-0002-5232-9882
BG
Skotko
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D004314:Down Syndrome / Q000097:blood / Q000150:complications / Q000503:physiopathology*; D005260:Female; D006801:Humans; D007037:Hypothyroidism / Q000097:blood / Q000150:complications / Q000503:physiopathology*; D007223:Infant; D008297:Male; D008875:Middle Aged; D012042:Registries; D013959:Thyroid Diseases / Q000097:blood / Q000150:complications / Q000503:physiopathology*; D013960:Thyroid Function Tests; D013961:Thyroid Gland / Q000503:physiopathology; D013972:Thyrotropin / Q000097:blood; D013974:Thyroxine / Q000097:blood
D013972:Thyrotropin; D013974:Thyroxine
Down syndrome; patient database; registry; subclinical hypothyroidism; thyroid disease; trisomy 21