Page 17 - Demo

General introduction151 hypothyroidism, obesity, disrupted sleep patterns, gastro-intestinal problems, scoliosis, and dental caries.36 In addition, multimorbidity and polypharmacy are prevalent and require special attention.36, 37 Studies on mortality are limited to one adult 22q11.2DS cohort, reporting a median age of death of 46.4 (range 18.1 – 68.6) years in those who had died, with higher survival probabilities for individuals without a congenital heart disease.38Cause of death was mostly related to cardiovascular disease.38 Findings of studies on prevalence rates, trajectory and treatment outcomes of conditions associated with 22q11.2DS are incorporated in the international clinical practice recommendations for individuals with 22q11.2DS,34, 36 and contribute to the improvement of multidisciplinary care across the life span. Specialized multidisciplinary clinics for individuals with 22q11.2DS, and other GNDs, have become increasingly available. In the Netherlands two specialized clinics for adults with 22q11.2DS exist, the expert center for adults with 22q11.2DS at Maastricht University Medical Center+ (MUMC) and the expert center for genetic syndromes at ‘s Heeren Loo. Studies of adults with 22q11.2DS described in this thesis were conducted at these clinics, often combined with other national or international clinics for 22q11.2DS. Parkinsonism/ Parkinson’s diseaseParkinson’s disease is the second most common neurodegenerative disorder in the general population, after Alzheimer’s disease, with an increasing prevalence worldwide.39 It affects 0.5-2% of individuals in the general population aged 65 years and older, but is rare under the age of 50 years.13, 40 Besides higher age, the prevalence rate of Parkinson’s disease seems to be slightly higher in males relative to females in the general population.13, 41 Parkinson’s disease has a large impact on an person’s quality of life. It is a progressive disorder that starts with a prodromal period that may include symptoms of depression, anxiety and loss of smell, before the onset of parkinsonian motor symptoms, followed by late-stage symptoms such as cognitive impairment, pain, fatigue and falls.42 Parkinson’s disease is hard to recognize in the prodromal period and is clinically diagnosed after motor symptoms emerge.43 The cardinal motor symptoms, referred to as parkinsonism, include bradykinesia (slowness of movement and decrement