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. 2023 Jul;60(7):706-711.
doi: 10.1136/jmg-2022-108752. Epub 2022 Nov 29.

Psychopathology in mothers of children with pathogenic Copy Number Variants

Maria Niarchou  1 , Adam C Cunningham  2 , Samuel J R A Chawner  2   3 , Hayley Moulding  4 , Matthew Sopp  5 ; IMAGINE-ID; Jeremy Hall  2 , Michael J Owen  2 , Marianne B M van den Bree  6
Collaborators, Affiliations

Psychopathology in mothers of children with pathogenic Copy Number Variants

Maria Niarchou et al. J Med Genet. 2023 Jul.

Abstract

Background: Caring for children with pathogenic neurodevelopmental Copy Number Variants (CNVs) (ie, deletions and duplications of genetic material) can place a considerable burden on parents and their quality of life. Our study is the first to examine the frequency of psychiatric diagnoses in mothers of children with CNVs compared with the frequency of psychiatric problems in age-matched mothers from a large community study.

Methods: Case-control study. 268 mothers of children with a CNV diagnosed in a medical genetics clinic and 2680 age-matched mothers taking part in the Avon Longitudinal Study of Parents and Children study.

Results: Mothers of children with CNVs reported higher frequency of depression, anorexia, bulimia, alcohol abuse and drug addiction problems compared with the age-matched mothers from the community sample. Focusing on psychiatric problems arising immediately after the birth of the index child, we found that the levels of depression symptoms were similar between the two groups (48% in mothers of children with CNVs vs 44% in mothers of the community sample, p=0.43), but mothers of children with CNVs had higher frequency of anxiety symptoms (55%) compared with mothers from the community sample (30%, p=0.03).

Conclusion: Our study highlights the need for healthcare providers to devise treatment plans that not only focus on meeting the child's needs but also assess and, if needed, address the mental health needs of the parent.

Keywords: mental disorders; pediatrics; psychiatry.

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Conflict of interest statement

Competing interests: JH, MO and MvdB are funded by a research grant from Takeda Pharmaceuticals outside the scope of the current work.

References

    1. Niarchou M, Zammit S, van Goozen SHM, Thapar A, Tierling HM, Owen MJ, van den Bree MBM. Psychopathology and cognition in children with 22q11.2 deletion syndrome. Br J Psychiatry 2014;204:46–54. 10.1192/bjp.bp.113.132324 - DOI - PMC - PubMed
    1. Chawner SJRA, Owen MJ, Holmans P, Raymond FL, Skuse D, Hall J, van den Bree MBM. Genotype-Phenotype associations in children with copy number variants associated with high neuropsychiatric risk in the UK (IMAGINE-ID): a case-control cohort study. Lancet Psychiatry 2019;6:493–505. 10.1016/S2215-0366(19)30123-3 - DOI - PubMed
    1. Ionita-Laza I, Rogers AJ, Lange C, Raby BA, Lee C. Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis. Genomics 2009;93:22–6. 10.1016/j.ygeno.2008.08.012 - DOI - PMC - PubMed
    1. Baker K, Devine RT, Ng-Cordell E, Raymond FL, Hughes C, IMAGINE-ID consortium . Childhood intellectual disability and parents' mental health: integrating social, psychological and genetic influences. Br J Psychiatry 2021;218:315–22. 10.1192/bjp.2020.38 - DOI - PubMed
    1. Mori Y, Downs J, Wong K, Leonard H. Longitudinal effects of caregiving on parental well-being: the example of Rett syndrome, a severe neurological disorder. Eur Child Adolesc Psychiatry 2019;28:505–20. 10.1007/s00787-018-1214-0 - DOI - PubMed

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