Gastrointestinal problems in 15q duplication syndrome.

Area of Science:

• Genetics
• Neurodevelopmental Disorders
• Gastroenterology

Background:

• Chromosome 15q duplication syndrome (Dup15q syndrome) is a neurodevelopmental disorder.
• It is characterized by intellectual disability, developmental delay, autism spectrum disorder (ASD), and epilepsy.
• Gastrointestinal (GI) problems are rarely reported in Dup15q syndrome, primarily focusing on neonatal feeding issues.

Purpose of the Study:

• To assess the prevalence and types of GI issues in patients with Dup15q syndrome.
• To evaluate the treatments used for GI symptoms in this population.
• To investigate the association between GI issues and autism spectrum disorder (ASD) in Dup15q syndrome.

Main Methods:

• A retrospective review of medical records from 46 patients diagnosed with Dup15q syndrome.
• Analysis of reported GI symptoms and their correlation with duplication type (isodicentric vs. interstitial) and ASD.
• Documentation of treatments administered for identified GI issues.

Main Results:

• High prevalence of GI symptoms, observed in 76.7% of isodicentric and 87.5% of interstitial duplication cases.
• Common symptoms included gastroesophageal reflux (56.7%) and constipation (60%); 30% experienced both.
• No clear association found between GI issues and ASD; behavioral improvements noted with GI symptom treatment.

Conclusions:

• GI symptoms are frequent in Dup15q syndrome, potentially presenting atypically.
• Increased awareness is crucial for early diagnosis and treatment, especially in nonverbal individuals.
• Effective management of GI issues may positively impact behavior in patients with Dup15q syndrome.