Page 17 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

General introduction
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.38
Cause 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 disease
Parkinson’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
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