GROWing Up With Rare GENEtic Syndromes

Study Overview
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Brief Summary
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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: comorbidities medical and their impact on quality of life medication use 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.

Official Title
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GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age

Conditions
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Prader-Willi Syndrome, PWS-like Syndrome, Silver Russel Syndrome, Congenital Hypopituitarism, Klinefelter (XXY-)Syndrome, Congenital Adrenal Hyperplasia, XXXXY Syndrome, XXYY Syndrome, XXXX Syndrome (Tetra-X Syndrome), Disorders of Sex Development, Turner Syndrome, 46, XY DSD, Tuberous Sclerosis, Neurofibromatosis, Albright Hereditaire Osteodystrofie, Cornelia de Lange Syndrome, Saethre-Chotzen Syndrome, 17p- Deletiesyndrome, VCF Syndrome, POLR3A Mutatie, Ohdo Syndrome, Jacobsen Syndrome / 11 q Syndrome, Myrhe Syndrome, CHARGE Syndrome, 1q25-32 Deletie, Bardet Biedl Syndrome, Rett Syndrome, 22q11 Deletion Syndrome, Allan-Herndon-Dudley Syndrome, Kallmann Syndrome, Rare Bone Disorders, Noonan Syndrome, Williams-Beuren Syndrome

Intervention / Treatment
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* Diagnostic Test: Retrospective file studies


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Intervention/Treatment |
| --- |
|Diagnostic Test: Retrospective file studies|No intevention, retrospective file study: medical history, laboratory values, additional tests, physical and psychological complaints.|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Presence of physical health problems | For example: presence of hypertension, diabetes mellitus, hypercholesterolemia, scoliosis, sleep apnea, hypothyroidism, obesity, psychosis etc. | 1 year | 
| Laboratory values | For example: glucose, hemoglobin, hematocrit, thyroid hormone, TSH, estrogen, testosterone, LH, FSH, LDL-cholesterol, triglycerides, ASAT, ALAT, gamma-GT, etc | 1 year | 
| Physical and psychological complaints | For example: daytime sleepiness, obstipation, back pain, headache, behavioral problems, fatigue, nycturia, blurry vision, depressive symptoms, etc. | 1 year | 
| Medication use | Use of all medication | 1 year |