Research shows that following a child’s diagnosis of a rare genetic condition, caregivers can often feel a sense of worry and isolation due to the rarity of their child’s condition. In some cases, caregivers reported that clinicians did not fully understand their child’s condition, leading to a lack of follow-up information and support.
NRXN1 deletion, a rare copy number variant, is associated with intellectual disability, speech and language delay, autism and seizures, along with anxiety and schizophrenia. Caregivers of individuals with NRXN1 deletions require specialized support to recognize and address potential mental health challenges in their children. Currently, there is limited support in this area, which, coupled with the rarity of the condition, often leads to significant stress and uncertainty as families are unsure of what to expect. The proposed project will focus on the development of a mental health educational intervention for this condition, in order to support caregivers.
To create this mental health booklet, we will adapt a resource previously developed for another rare genetic condition (called 22q11.2) and use the information provided by caregivers from cognitive interviews to guide us. The booklet will cover why their child might be more likely affected by mental health conditions, what signs to look out for, and what tools or supports are in place to help them. In the future, there will also be an opportunity to assess this booklet’s effectiveness through questionnaires and provide feedback on the booklet, which can help the development of future interventions.
The objectives of this study are to improve understanding of mental health outcomes in NRXN1 deletion for families and to provide educational information about protective factors and tools to help manage mental health. This will improve awareness and reduce worry about clinical outcomes in caregivers.