Abstract
PurposeThis study aimed to characterize mood and quality of life and to examine the associations of these areas with subjective cognitive concerns and attitudes toward genetic testing for the Common Hispanic Mutation, a gene that has been associated with increased risk for CCM1.MethodFifty-four adults with previous genetic testing for the Common Hispanic Mutation completed a mail survey that included assessments of the above identified areas.ResultsSelf-reported depressive symptoms and quality of life did not differ between those with positive and negative genetic test results. The negative group expressed a more favorable attitude toward genetic testing (p < 0.001). There was a trend toward more subjective cognitive concerns in the positive group (p = 0.06). Using generalized linear regression, more subjective cognitive concerns were associated with poorer quality of life and more depressive symptoms (p < 0.001). Poorer attitude toward genetic testing was also associated with poorer quality of life (p < 0.05).ConclusionsSubjective cognitive concerns and negative attitudes toward genetic testing may influence emotional well-being after genetic testing for the Common Hispanic Mutation. Additional research is needed that uses objective neuropsychological measures to understand the associations of subjective cognitive concerns, emotional well-being, and cognitive test performance in individuals with CCM1. There is also a need for research that focuses on protective factors and resiliency following genetic testing for CCM1 and the development of mental health interventions to preempt psychosocial difficulties.
Highlights
This study aimed to characterize mood and quality of life and to examine the associations of these areas with subjective cognitive concerns and attitudes toward genetic testing for the Common Hispanic Mutation, a gene that has been associated with increased risk for CCM1
Cerebral cavernous malformation (CCM) is a rare neurological condition that is characterized by vascular malformations in the brain and spinal cord that can result in enlarged capillary channels, or caverns, and immature vessel walls
This study examined depressive symptoms and quality life in individuals with prior genetic testing for CCM1
Summary
Cerebral cavernous malformation (CCM) is a rare neurological condition that is characterized by vascular malformations in the brain and spinal cord that can result in enlarged capillary channels, or caverns, and immature vessel walls. Surgical resection is common and many patients with CCM have temporary or permanent neurological deficits, seizures, and chronic headaches [3] In view of this risk for negative neurological sequalae, problems with cognition [4] and psychological functioning [5] may be expected, existing CCM research has yet to verify this. In an early study of Huntington’s disease, carriers, compared to non-carriers, reported decreased general psychological well-being in the initial 7 - 10 days and at 6 months after testing. This dissipated with time and carriers and non-carriers did not significantly differ 1 year after the testing [6]. Participants reported that genetic testing was helpful for making decisions regarding their personal affairs [9]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
