GROWing Up With Rare GENEtic Syndromes
GROWing Up With Rare GENEtic Syndromes
Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition,
 have combined medical problems affecting multiple organ systems, and intellectual disability
 is often part of the syndrome. During childhood, patients with rare genetic syndromes receive
 multidisciplinary and specialized medical care; they usually receive medical care from 3-4
 medical specialists.

 Increased life expectancy Although many genetic syndromes used to cause premature death,
 improvement of medical care has improved life expectancy. More and more patients are now
 reaching adult age, and the complexity of the syndrome persists into adulthood. However,
 until recently, multidisciplinary care was not available for adults with rare genetic
 syndromes. Ideally, active and well-coordinated health management is provided to prevent,
 detect, and treat comorbidities that are part of the syndrome. However, after transition from
 pediatric to adult medical care, patients and their parents often report fragmented poor
 quality care instead of adequate and integrated health management. Therefore, pediatricians
 express the urgent need for adequate, multidisciplinary adult follow up of their pediatric
 patients with rare genetic syndromes.

 Medical guidelines for adults not exist and the literature on health problems in these adults
 is scarce. Although there is a clear explanation for the absence of adult guidelines (i.e.
 the fact that in the past patients with rare genetic syndromes often died before reaching
 adult age), there is an urgent need for an overview of medical issues at adult age, for 'best
 practice' and, if possible, for medical guidelines.

 The aim of this study is to get an overview of medical needs of adults with rare genetic
 syndromes, including:

 1. comorbidities

 2. medical and their impact on quality of life

 3. medication use

 4. the need for adaption of medication dose according to each syndrome

 Methods and Results This is a retrospective file study. Analysis will be performed using SPSS
 version 23 and R version 3.6.0.
Inclusion Criteria:

 -  Patients with rare syndromes or rare congenital diseases visiting the
 multidisciplinary outpatient clinic for patients with rare diseases at the department
 of endocrinology, internal medicine, Erasmus Medical Center.

 Exclusion Criteria:

 -  None