Page 214 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Chapter 8
Future perspectives
If neurodevelopment and neurodegeneration are a continuum rather
than distinct entities this implicates that research aimed at identifying
novel treatment targets should focus on shared underlying mechanisms
rather than specific conditions or symptoms. However, characterization
of manifestations that develop over the life course may aid in our
understanding of possible underlying mechanisms and will help to improve
recommendations for clinical care and genetic counseling. Changes in
phenotype may occur in mid or late adulthood and be informative of gene
expression or gene-environment interactions.66 In addition, recognition
of GNDs that are at increased risk of, for example Parkinson’s disease,
may facilitate the use of animal and cell models that will further our
understanding of underlying mechanisms and move drug discovery. With
advances in diagnosis and treatment of GNDs, targeted disease-modifying
therapies have become available for an increasing number of individuals
diagnosed with a GND.67-69 Examples in relation to parkinsonism were
discussed in chapter 2, and included individuals with phenylketonuria
and other inherited disorders of (neurotransmitter) metabolism, who may
benefit from nutritional or pharmacological treatments.67, 70
Studies described in this thesis provided clinical recommendations
for management of individuals with a GND, including 22q11.2DS, and
recommendations for future research. In the following paragraphs
recommendations for future research are further discussed and some new
research ideas are introduced.
First, future studies may focus on treatment strategies for conditions that
were found (relatively) frequent in adults with 22q11.2DS. For example, in
chapter 7 it was reported that almost one out of five adults with 22q11.2DS
received treatment for trauma. Although treatment interventions for trauma
showed positive effects in people with an intellectual disability,10 the effect
of treatment in adults with 22q11.2DS is still unclear. Treatment for trauma
was often offered by regional care providers and treatment effects were
not always discussed during the visits to specialized 22q11.2DS clinics,
but for those with available data in the medical files, some reported no or
minor effects of treatment interventions. Larger samples of individuals with
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