title: 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.
authors.affiliation: Massachusetts General Hospital Pediatric Epilepsy Program and Dup15q Center, Boston, MA, USA.
authors.forename: Elias A
authors.initials: EA
authors.lastname: Shaaya
authors.affiliation: Massachusetts General Hospital Pediatric Epilepsy Program and Dup15q Center, Boston, MA, USA.
authors.forename: Sarah F
authors.initials: SF
authors.lastname: Pollack
authors.affiliation: Massachusetts General Hospital Pediatric Epilepsy Program and Dup15q Center, Boston, MA, USA.
authors.forename: Susana
authors.initials: S
authors.lastname: Boronat
authors.affiliation: Massachusetts General Hospital Pediatric Epilepsy Program and Dup15q Center, Boston, MA, USA.
authors.forename: Shelby
authors.initials: S
authors.lastname: Davis-Cooper
authors.affiliation: Floating Hospital for Children at Tufts Medical Center, Boston, MA, USA; Tufts University School of Medicine, Boston, MA, USA.
authors.forename: Garrett C
authors.initials: GC
authors.lastname: Zella
authors.affiliation: Massachusetts General Hospital Pediatric Epilepsy Program and Dup15q Center, Boston, MA, USA; Harvard Medical School, Boston, MA, USA. Electronic address: rthibert@mgh.harvard.edu.
authors.forename: Ronald L
authors.initials: RL
authors.lastname: Thibert
mesh_terms: D000293:Adolescent; D001726:Bisacodyl / Q000494:pharmacology; D002648:Child; D002675:Child, Preschool; D058674:Chromosome Duplication; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D003248:Constipation / Q000188:drug therapy; D004733:Enema; D005260:Female; D005767:Gastrointestinal Diseases / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D011092:Polyethylene Glycols / Q000494:pharmacology; D012189:Retrospective Studies; D012676:Senna Extract / Q000494:pharmacology; D014314:Trisomy / Q000235:genetics*; D055815:Young Adult
chemical_list: D001726:Bisacodyl; D011092:Polyethylene Glycols; D012676:Senna Extract
keywords: 15q duplication syndrome; Constipation; Dup15q; GI; GI reflux