Page 125 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Parkinson’s disease in 22q11.2DS
disorder specialist, may be considered in case of parkinsonian motor signs
including bradykinesia, rigidity and rest tremor. After the age of 40 years
standard neurological examinations seem justified, since treatment options
exist and ideally start as soon as possible for optimal effect.16 Individuals with
22q11.2DS at any age (with suspicion of) medication-induced parkinsonism
may benefit from careful monitoring and referral for neurological examination
in case of doubt. Similarly to individuals from the general population,
dopaminergic imaging may aid in differentiating between neurodegenerative
and medication-induced parkinsonism,4, 17 and standard treatments for PD,
such as levodopa, are recommended.11 Based on studies in the general
population, exercise interventions may have protective effects on the quality
of life and functional mobility of individuals with PD,18 and information
regarding possible beneficial effects of exercise and healthy diet, such as
avoiding obesity and consuming uric acid and poly-unsaturated fatty acid
rich diets,19 may be included in clinical counseling of adults with (suspicion
of) PD.20 However, there are still many controversies regarding the relationship
between diet and other factors and PD.16, 19 Prior to screening of motor
symptoms, the possible benefits and harms of identification of PD should
be discussed since for some individuals the psychological harm of being
diagnosed with a progressive disorder that cannot be cured may outweigh
benefits of (potentially) slowing down disease progression.21 Future research
may study how and when counseling and screening of PD in individuals who
receive a 22q11.2DS diagnosis should take place. Previous studies in adults
with Down syndrome, who have an increased risk of early-onset Alzheimer’s
disease, and relatives of patients with PD and genetic variants in GBA or LRRK2,
showed that they valued counseling about their increased risk and screening
possibilities of the neurodegenerative disorder. 21 22
Features related to prodromal PD in the general population, such as
constipation, loss of smell, depression and anxiety are more frequent in
adults with 22q11.2DS in general.15, 23-25 It is still unclear if features such as
hyposmia or rapid eye movement sleep behavior disorder (RMD) are predictive
of PD in 22q11.2DS,11 although RMD has been reported in combination with
parkinsonism,26 and no objective evidence of RMD in 26 non-PD adults (18-51
years) with 22q11.2DS was found using polysomnography.27
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