Detecting celiac disease in patients with Down syndrome.
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 clinics, and, how many individuals were diagnosed with CD by these clinics. This was accomplished by following 663 individuals with DS for 1 year, across five clinics in different states specializing in the comprehensive care of people with DS. Of the 663 participants, 114 individuals were screened for CD at their visit to a DS specialty clinic. Protracted constipation (43.2%) and refractory behavioral problems (23.7%) were symptoms most often reported to DS specialty providers. During the 1 year study period, 13 patients screened positive for CD by serology. Of those, eight underwent duodenal biopsy, and three were diagnosed with CD. We conclude that CD is an important consideration in the comprehensive care of individuals with DS. However, while symptoms are common, diagnoses are infrequent in DS specialty clinics. © 2016 Wiley Periodicals, Inc.
Down Syndrome Program, Division of Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts.
Christianne
C
Sharr
Department of Pediatrics, Clinical Genetics, Levine Children's Hospital at Carolina Healthcare System, Charlotte, North Carolina.
Jenifer
J
Lavigne
Down Syndrome Program, Division of Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts.
Ibrahim M A
IM
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
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 Carolina 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
JC
Florez
Comprehensive Down Syndrome Program, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina.
Priya
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 Carolina 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 L
KL
Berrier
Department of Pediatrics, Clinical Genetics, Levine Children's Hospital at Carolina 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
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
BG
Skotko
D000293:Adolescent; D000328:Adult; D001706:Biopsy; D002446:Celiac Disease / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D004314:Down Syndrome / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D055815:Young Adult
Down syndrome; Trisomy 21; celiac disease; patient database; registry