Page 228 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Chapter 9
and treatment of parkinsonism, Parkinson’s disease in particular, in these
genetic syndromes. This study indicated that regular antiparkinsonian
medication showed positive effects in most individuals with (suspicion of)
Parkinson’s disease, which is of direct clinical relevance. In this study it is
recommended that dopaminergic imaging techniques may be considered in
patients with a genetic syndrome - who often use anti-psychotic medication
- to distinguish neurodegenerative parkinsonism (e.g., Parkinson’s disease)
from parkinsonism as side-effect of medication. In addition to a scientific
publication, results have been presented at international and national
conferences for movement disorders specialists and other neurologists, as
well as for physicians for people with intellectual disabilities.
The goal of sharing results with different target audiences was to make
clinicians aware of the conditions that were frequently present in adults
with 22q11.2DS or other genetic syndromes, to improve screening and
to emphasize the possibilities for treatment that may ultimately result in
better care for adults with a genetic syndrome. In addition, results of the
studies included in this thesis demonstrated how a genetic diagnosis may
improve clinical care for individuals with an intellectual disability, since some
conditions were more frequently seen in adults with 22q11.2DS compared
to other genetic syndromes or adults with an intellectual disability in general.
For example, knowledge of an increased risk of early-onset Parkinson’s
disease in 22q11.2DS compared to the general population and people with
an intellectual disability, contributes to recommendations for screening
specifically for adults with 22q11.2DS. Therefore, a genetic diagnosis may
facilitate a more personalized approach by care providers.
Findings of these studies provide information to adults with 22q11.2DS
and their relatives about what may be expected at adult age. In addition, it
may raise awareness of an increased risk of conditions such as Parkinson’s
disease or hearing loss at relatively young-adult age and may help adults
with 22q11.2DS or relatives to seek help at an early stage. To make results
directly available to adults with 22q11.2DS and their relatives, a presentation
was given about post-traumatic stress in 22q11.2DS at the information day
of the Dutch 22q11 family organization Stichting Steun 22Q11, and results
have been shared via their annual magazine, ‘s Heeren Loo website, and
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