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Gastrointestinal problems in 15q duplication syndrome.

Abstract：

:Chromosome 15q duplication syndrome (Dup15q syndrome) is a neurodevelopmental disorder involving copy number gains of the maternal chromosome 15q11.2-q13 region, characterized by intellectual disability, developmental delay, autism spectrum disorder (ASD), and epilepsy. Gastrointestinal (GI) problems in Dup15q syndrome have been reported only rarely, mostly focused on neonatal feeding difficulties. A retrospective review of the medical records of 46 patients with Dup15q syndrome was conducted to assess GI issues and their treatments in this population. GI symptoms were present in 76.7% of subjects with an isodicentric duplication and 87.5% with an interstitial duplication. There was no clear association between GI issues and ASD, with symptoms occurring in 78.9% of all subjects and 78.2% of ASD subjects. The most commonly reported symptoms were gastroesophageal reflux (56.7%) and constipation (60%), with 30% of subjects reporting both. The most common treatments were polyethylene glycol for constipation and proton pump inhibitors for reflux. Behaviors such as irritability and aggressiveness improved with treatment of GI symptoms in several subjects. The results indicate that GI symptoms are common in Dup15q syndrome and may have an atypical presentation. Diagnosis may be difficult, especially in individuals who are nonverbal or minimally verbal, so increased awareness is critical for early diagnosis and treatment.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Shaaya EA,Pollack SF,Boronat S,Davis-Cooper S,Zella GC,Thibert RL

doi

10.1016/j.ejmg.2014.12.012

subject

Has Abstract

pub_date

2015-03-01 00:00:00

pages

191-3

issue

3

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(14)00240-7

journal_volume

58

pub_type

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