Psychopathology in mothers of children with pathogenic Copy Number Variants

Caring for children with pathogenic neurodevelopmental Copy Number Variants (CNVs) (i.e., 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 to the frequency of psychiatric problems in age-matched mothers from a large community study. 268 mothers of children with CNVs had higher frequency of depression compared to the 2,680 age-matched mothers (p<0.001). Mothers of children with CNVs reported higher frequency of anorexia, bulimia, alcohol abuse and drug addiction compared to the age-matched mothers from the community sample. The frequency of depression arising after the birth of the index child was 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 (55%) compared to mothers from the community sample (30%, p=0.03). Our study highlights the need for health-care providers to devise treatment plans that not only focus on meeting the child’s needs, but also assessing and if needed, addressing the mental health needs of the parent.