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. 2022 Feb;31(1):140-152.
doi: 10.1002/jgc4.1460. Epub 2021 Jul 5.

Reflections of parents of children with 22q11.2 Deletion Syndrome on the experience of receiving psychiatric genetic counseling: 'Awareness to Act'

Prescilla Carrion  1 , Alicia Semaka  1 , Rolan Batallones  1 , Caitlin Slomp  1 , Emily Morris  1   2 , Angela Inglis  1   2 , Marlene Moretti  3 , Jehannine Austin  1   2
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Reflections of parents of children with 22q11.2 Deletion Syndrome on the experience of receiving psychiatric genetic counseling: 'Awareness to Act'

Prescilla Carrion et al. J Genet Couns. 2022 Feb.

Abstract

Individuals with 22q11.2 deletion syndrome (22qDS) have a 25%-41% risk for a psychotic disorder. Although early intervention for psychiatric conditions leads to the best long-term outcomes, healthcare providers often provide inadequate information about these issues and psychiatric services are underused by this population. We conducted semi-structured interviews with parents of children with 22qDS a month after they received psychiatric genetic counseling (pGC), to evaluate outcomes and perceived value of pGC with respect to parents' needs. Using grounded theory, we generated a theoretical framework of the process of building parental awareness of psychiatric risks associated with 22qDS and protective and management strategies for mental health (MH). Parents described how after their child's diagnosis with 22qDS, a variety of barriers stalled their building awareness of psychiatric risk and protective/management strategies: dealing with the immediate symptoms of 22qDS; child's young age; parental fear and stigma; and missing MH guidance. These barriers led them to carry the burden of worrying over missing emerging psychiatric symptoms and the stress over advocating for their child's MH. Parents indicated pGC was beneficial in that led them to achieve an 'awareness to act,' feeling confident in being alert and equipped to protect and/or manage their child's MH.

Keywords: 22q11.2 deletion; genetic counseling; intervention; mental health; psychiatric illness; velocardiofacial syndrome.

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References

REFERENCE

    1. Antshel, K., Fremont, W., Roizen, N., Shprintzen, R., Higgins, A., Dhamoon, A., & Kates, W. (2006). ADHD, major depressive disorder, and simple phobias are prevalent psychiatric conditions in youth with velocardiofacial syndrome. Journal of the American Academy of Child and Adolescent Psychiatry, 45(5), 596-603. https://doi.org/10.1097/01.chi.0000205703.25453.5a
    1. Austin, J. (2019) Evidence-based genetic counseling for psychiatric disorders: A road map. Cold Spring Harbour Perspectives in Medicine. 10(6), a036608. https://doi.org/10.1101/cshperspect.a036608
    1. Austin, J., Palmer, C., Rosen-Sheidley, B., Mccarthy Veach, P., Gettig, E., & Peay, H. (2008). Psychiatric disorders in clinical genetics II: individualizing recurrence risks. Journal of Genetic Counseling, 17, 18-29. https://doi.org/10.1007/s10897-007-9121-4
    1. Austin, J., Smith, G., & Honer, W. (2006). The genomic era and perceptions of psychotic disorders: Genetic risk estimation, associations with reproductive decisions and views about predictive testing. American Journal of Medical Genetics, 141B(8), 926-928. https://doi.org/10.1002/ajmg.b.30372
    1. Baglioni, C., Battagliese, G., Feige, B., Spiegelhalder, K., Nissen, C., Voderholzer, U., Lombardo, C., & Riemann, D. (2011). Insomnia as a predictor of depression: A meta-analytic evaluation of longitudinal epidemiological studies. Journal of Affective Disorders, 135(1-3), 10-19. https://doi.org/10.1016/j.jad.2011.01.011

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