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Gastrointestinal manifestations of Osteogenesis Imperfecta: clinical description, standardized screening development, and guideline application for early intervention in the pediatric population

Clinical Genetics and Therapeutics
  • Primary Categories:
    • Clinical- Pediatric
  • Secondary Categories:
    • Clinical- Pediatric
Introduction:
Osteogenesis imperfecta (OI), also referred to as brittle bone disease, is a skeletal dysplasia characterized by bone fragility, skeletal deformities, short stature, and additional multisystemic findings. There are more than fifteen subtypes of OI currently described, based on both genotypic and phenotypic characteristics. The extent of systemic involvement and severity of this condition are both highly variable. The best described and most prominent features of OI are the musculoskeletal manifestations; though there is increasing awareness of multisystemic findings which have significant impact on outcomes and quality of life. Patient surveys have indicated that gastrointestinal symptoms are both prevalent and impactful in the pediatric OI population, yet limited investigation has thus far prevented the development of standardized screening and early intervention on these clinical complications.

Methods:
To better understand the impact of gastrointestinal disorders on the pediatric OI population, a cohort of 200 patients was analyzed. Retrospective gastrointestinal symptom data was collected via chart review, using standardized and accepted gastrointestinal symptom surveys such as the Rome III Diagnostic Questionnaire for the Pediatric Functional GI Disorders and the Gastrointestinal Symptom Rating Scale as a framework for data collection. Descriptive statistical analysis was then applied to this data to categorize and summarize the clinical data collected, identifying common symptoms and heir correlation with various patient characteristics. With both categorical and continuous variables contained in this data set, Chi square and Fischer’s exact test were used to compare categorical variables while Wilcoxon Rank Sum tests were used for continuous variables to ascertain statistical significance.

 

Results:
Analysis revealed recent gastrointestinal complaints in a majority of the cohort, many of which were only noted in the context of a visit with a GI specialist. The most common complaint was chronic constipation, with more severe findings such as feeding tube and colostomy dependence also described. Wheelchair dependence, opioid use for pain control, and dental abnormalities were common, yet their impact on diet and GI symptoms was largely under-reported.

 

Conclusion:
The OI population experiences a unique combination of known risk factors for gastrointestinal issues, including frequent opioid use for pain management, pelvic abnormalities, reduced mobility, and dental abnormalities among others. The multisystemic and chronic nature of OI leads to the tendency of these patients to self-manage many of their clinical concerns, leading to underreporting of these concerns in areas where surveillance is not optimized. The results of this study reflect a trend of underdiagnosis and undertreatment of common and potentially severe gastrointestinal complications related to OI, which would be better addressed with standardized surveillance and specific assessment for known risk factors. The need for such surveillance is emphasized by the onset of gastrointestinal symptoms in the first year of life and persistence throughout childhood and adolescent years. Expansion of this work to include prospective data collected via standardized survey will allow for a broader understanding of gastrointestinal complications on the pediatric OI population their causes, ultimately guiding the development of evidence-based guidelines for treatment.

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