Support to caregivers who have received genetic information about neurodevelopmental and psychiatric vulnerability in their young children: A narrative review

Abstract

Diagnosis of pathogenic genetic variants associated with neurodevelopmental and psychiatric disorders (NPDs) is increasingly made early in life. This narrative review focuses on the need for, and provision of, psychological supports following genetic diagnosis. We conducted a literature search of publications on how caregivers are informed about the NPD vulnerability associated with genetic variants, challenges and unmet needs when receiving this information, and whether psychological supports are provided. Given its early recognition, the 22q11.2 deletion has been studied thoroughly for two decades, providing generalizable insights. This literature indicates the complex caregivers' needs related to learning about potential NPD vulnerabilities associated with a genetic variant, include how to communicate the diagnosis, how to identify early signs of NPDs, how to deal with stigma and a lack of medical expertise outside of specialized genetics clinics. With one exception, no publications describe psychotherapeutic support provided to parents. In the absence of support, caregivers struggle with several unmet needs regarding potential longer‐term NPD implications of a genetic diagnosis. The field needs to go beyond explaining genetic diagnoses and associated vulnerabilities, and develop approaches to support caregivers with communicating and managing NPD implications across the child's lifespan.

Linkage of whole genome sequencing and administrative health data in autism: A proof of concept study

“…(2) growing access to clinical genome sequencing across medical settings (Costain et al, 2021), and (3) resulting anxiety and uncertainty re: developmental and psychiatric implications of a rare genetic diagnosis (Perlman et al, 2023), studies like ours set the grounds for the exploration of the clinical utility of using genetic testing data to understand and anticipate clinical mental health risk and care needs in neurodevelopmental and rare genetic disorders.…”

An integrated clinical approach to children at genetic risk for neurodevelopmental and psychiatric conditions: interdisciplinary collaboration and research infrastructure

“…The following are examples of research output made possible by DAGSY; (1) participation in the Genes to Mental Health Network (G2MH), an NIMH-funded initiative that amongst others collect genotype and phenotype data in individuals with copy number variants at 16p11.2 or 22q11.2 [ 8 , 42 ]; (2) a case report on a 16p13.3 deletion [ 43 ]; (3) a case report describing treatment in a patient with a rare genetic variant, post gene therapy [ 44 ]; (4) a case series describing the phenotypic profile of 11 individual carriers of variants in the same gene, suggesting for the first time its potential pathogenicity (the first two patients of this series were identified at DAGSY); (5) participation in a multi-site industry-sponsored clinical trial (NCT05290493) (manuscripts for the latter two are in preparation). In addition to these studies directly related to patients, the clinical experience at DAGSY has inspired a review on the psychological support for caregivers following a genetic diagnosis with impact on neurodevelopmental risk [ 45 ]. Finally, the stream of patients with specific variants fosters the building of dedicated patient cohorts.…”

Positive parenting practices support children at neurological risk during COVID-19: a call for accessible parenting interventions

“…Investments in the early years to reduce problematic outcomes must be a priority, and must be accessible to all families, especially those that may be less likely to access these supports ( Garner and Yogman, 2021 ; McCrae et al, 2021 ). Specifically, parents of children with medical needs have indicated they want support after receiving information on neurodevelopmental and psychiatric vulnerability ( Perlman et al, 2023 ). Indeed, the World Health Organization guidelines call for increased availability of parenting interventions to prevent poor treatment and enhance parent–child relationships World Health Organization (2022) .…”