Page 125 - Demo

Parkinson’s disease in 22q11.2DS1233disorder 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 22Features 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