TY - JOUR
T1 - Environmental Influences on the Relation between the 22q11.2 Deletion Syndrome and Mental Health
T2 - A Literature Review
AU - Snihirova, Yelyzaveta
AU - Linden, David E J
AU - van Amelsvoort, Therese
AU - van der Meer, Dennis
N1 - Funding Information:
This research and the APC were funded by the School for Mental Health and Neuroscience, Maastricht University. T.v.A. is funded by an NIH_5U01 grant (MH119740). D.v.d.M is funded by The Research Council of Norway (#276082).
Publisher Copyright:
© 2022 by the authors.
PY - 2022/11/2
Y1 - 2022/11/2
N2 - 22q11.2 deletion syndrome (22q11DS) is a clinically heterogeneous genetic syndrome, associated with a wide array of neuropsychiatric symptoms. The clinical presentation is likely to be influenced by environmental factors, yet little is known about this. Here, we review the available research literature on the role of the environment in 22q11DS. We find that within-patient design studies have mainly investigated the role of parental factors, stress, and substance use, reporting significant effects of these factors on the clinical profile. Case-control studies have been less successful, with almost no reports of significant moderating effects of the environment. We go on to hypothesize which specific environmental measures are most likely to interact with the 22q11 deletion, based on the genes in this region and their involvement in molecular pathways. We end by discussing potential reasons for the limited findings so far, including modest sample sizes and limited availability of environmental measures, and make recommendations how to move forward.
AB - 22q11.2 deletion syndrome (22q11DS) is a clinically heterogeneous genetic syndrome, associated with a wide array of neuropsychiatric symptoms. The clinical presentation is likely to be influenced by environmental factors, yet little is known about this. Here, we review the available research literature on the role of the environment in 22q11DS. We find that within-patient design studies have mainly investigated the role of parental factors, stress, and substance use, reporting significant effects of these factors on the clinical profile. Case-control studies have been less successful, with almost no reports of significant moderating effects of the environment. We go on to hypothesize which specific environmental measures are most likely to interact with the 22q11 deletion, based on the genes in this region and their involvement in molecular pathways. We end by discussing potential reasons for the limited findings so far, including modest sample sizes and limited availability of environmental measures, and make recommendations how to move forward.
KW - Humans
KW - DiGeorge Syndrome/genetics
KW - Mental Health
KW - Substance-Related Disorders
KW - Case-Control Studies
U2 - 10.3390/genes13112003
DO - 10.3390/genes13112003
M3 - (Systematic) Review article
C2 - 36360240
SN - 2073-4425
VL - 13
JO - Genes
JF - Genes
IS - 11
M1 - 2003
ER -