ESPE Abstracts

Objective: Silver-Russell Syndrome (SRS) is a rare disorder characterized by growth restriction and distinctive phenotypic features. The underlying mechanisms include loss of methylation on chromosome 11p15 and maternal uniparental disomy of chromosome 7. While feeding difficulties and gastrointestinal (GI) symptoms are prevalent during childhood, their manifestation and severity in adulthood remain unclear. This study aim ed to evaluate the presence and severity of GI symptoms in adolescents and adults with SRS in relation to their childhood nutritional history.

Methods: In a descriptive study, 23 individuals (M/F=14/9), 4 adolescents and 19 adults, with SRS were followed at the national expert centre for SRS since childhood due to growth hormone treatment. During childhood, 11 out of 23 patients required nutritional support through enteral feeding. At a median age of 28 years (14-39 years), individuals completed the Gastrointestinal Symptom Rating Scale (GSRS) questionnaire, evaluating GI symptoms over the past week. The questionnaire consists of 19 items that divided into five symptom domains as follows: abdominal pain syndrome, reflux syndrome, indigestion syndrome, diarrhea syndrome, and constipation syndrome. A response of ≥ 4 (at least moderate symptom severity) on one or more questions or a median score of ≥ 4 in any symptom domain was used to define patients with bothersome GI symptoms. Baseline characteristics and GI symptoms were analyzed, focusing on differences between enterally and orally fed individuals.

Results: Out of the 23 individuals, 16 (70%) reported at least moderate symptom severity on one or more GI symptom. Indigestion and reflux were the most frequently reported symptom domains, each reported by 22% of the individuals. Among the orally fed individuals, a broader spectrum of symptom scores was observed in all domains, except for reflux syndrome, compared to those who were enterally fed during childhood.

Conclusion: Short-term GI symptoms are common in adolescents and adults with SRS. This study highlights the importance of GI follow-up in adults with SRS, regardless of their childhood nutritional history.