Gastrointestinal symptoms and quality of life in adults with Silver-Russell syndrome: a cross-sectional study.

Abstract

Background and objective: Most children with the rare disorder Silver-Russell syndrome (SRS) have feeding difficulties and/or gastrointestinal symptoms such as vomiting and constipation, worsening their postnatal growth. Whether the complaints remain in adult life has not been evaluated by large specialised national centres.

Design/setting/patients: All 28 individuals who were referred to the national centre for SRS as children were approached at an adolescent or adult age. We used the validated Gastrointestinal Symptom Rating Scale (GSRS) questionnaire to assess gastrointestinal symptoms during the last week. Individuals with the most bothersome gastrointestinal symptoms completed the Rome IV Diagnostic Questionnaires online, General Anxiety Disorder-7, the Patient Health Questionnaire-9, the Patient Health Questionnaire-12 Somatic Symptom scale and the Patient-Reported Outcomes Measurement Information System Global-10.

Results: The GSRS questionnaires were completed by 18 individuals from the age of 14 years. There was at least one gastrointestinal symptom of moderate severity reported by 11 (61%) individuals. The most frequent symptom domain was related to 'Indigestion' (27%), 'Reflux' (22%) and 'Constipation' (22%). Among 11 individuals with at least one gastrointestinal symptom of moderate severity, six completed the Rome IV Diagnostic Questionnaires and five were diagnosed with a disorder of gut-brain interaction.

Conclusion: Short-term gastrointestinal symptoms are common in young adults diagnosed with SRS. This needs to be further evaluated in prospective studies assessing the chronicity of the symptoms.