Gastrointestinal Symptoms in Children and Adolescents With Neurofibromatosis Type 1

ABSTRACT Objectives: Neurofibromatosis type 1 (NF1) is a complex genetic disorder characterized by symptoms of the skin and nervous system. A previous study indicated that constipation is common in children with NF1. The aim of the present study was to investigate the phenotype and prevalence of gastrointestinal symptoms in a population of 4-17-year-olds with NF1 compared to their unaffected siblings. Methods: Gastrointestinal symptoms were assessed with a web-based, parent or self-administered, validated, Rome® III diagnostic questionnaire. Participants were recruited from one of two Danish National Centers of Expertise for NF1. Logistic regression was used to estimate the prevalence of functional dyspepsia, irritable bowel syndrome and constipation in each group and the groups were compared using odds ratio. Results: We compared 102 NF1 patients (median age 10.3 years) and 46 of their unaffected siblings (median age 10 years). The overall likelihood of having gastrointestinal symptoms usually attributed to either functional dyspepsia, irritable bowel syndrome or constipation was 30.4% in patients vs. 10.9% in siblings, odds ratio 3.58 (95% CI: 1.30–9.79). The prevalence of constipation was 22.5% in patients and 4.3% in siblings, odds ratio 6.41 (95% CI: 1.45–28.24). The use of laxatives was 16% (n = 16) in patients and 2% (n = 1) in siblings. Conclusions: Overall, gastrointestinal symptoms attributed to functional dyspepsia, irritable bowel syndrome or constipation are more common in 4–17-year-olds with NF1 when compared to their unaffected siblings. The high prevalence indicates that gastrointestinal dysfunction in NF1 is not functional but may be part of the underlying NF1 disorder. Address correspondence and reprint requests to Cecilie Ejerskov, MD, Centre for rare diseases, Peadiatrics and adolescent medicine, Aarhus university hospital, Palle juul-jensens boulevard 99, Dk-8200 aarhus n denmark (e-mail: cecilie@ejerskov.dk). Received 2 July, 2017 Accepted 12 November, 2017 Supplemental digital content is available for this article. Direct URL citations appear in the printed text, and links to the digital files are provided in the HTML text of this article on the journal's Web site (www.jpgn.org). CONFLICTS OF INTEREST AND SOURCE OF FUNDING: THE AUTHORS DECLARE THAT THEY HAVE NO CONFLICT INTERESTS. THE STUDY WAS SUPPORTED BY AARHUS UNIVERSITY, HEALTH; NF DENMARK - THE DANISH NF PATIENT ASSOCIATION AND; THE DANISH MEDICAL RESEARCH GRANT. THE FUNDING BODIES HAVE HAD NO ROLE IN THE DESIGN OF THE STUDY, COLLECTION, ANALYSIS OR INTERPRETATION OF THE DATA NOR IN THE WRITING OF THE MANUSCRIPT. © 2017 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology,

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