All in the Family

Abstract

The overarching purpose of this research was to examine the experiences of 1 family living with a child with Helsmoortel-Van Der Aa syndrome or activity-dependent neuroprotective protein (ADNP) syndrome. Design:A retrospective qualitative design was used for this study. Methods: Two primary caregivers for a 5-year-old child with ADNP syndrome completed background questionnaires to provide context for semistructured interviews. Each caregiver completed 2 interviews, approximately 2 months apart. Field notes, member checks, and triangulation were used to enhance the credibility of the study. Results:This article summarizes the theme "All in the Family." Having a child with ADNP syndrome affected all aspects of family life. Participants revealed that family dynamics were shaped by experiences stemming from their living arrangements and caregiving responsibilities. Conclusions:Findings from this research highlighted the need for increased support for families faced with ADNP syndrome, as well as the role clinical nurse specialists can play in the lives of caregivers faced with such a rare diagnosis. Furthermore, given the paucity of ADNP syndrome information, the need for more research is warranted.

ADNP Syndrome: A Qualitative Assessment of Symptoms, Therapies, and Challenges

“…ADNP syndrome, also known as Helsmoortel-Van der Aa syndrome, is a rare disorder in which sequence variants in the activity-dependent neuroprotective protein (ADNP) gene cause autism spectrum disorder (ASD), intellectual disability, sensory reactivity symptoms, facial dysmorphisms, and an array of other manifestations, including increased risk of seizures, cardiac defects, musculoskeletal issues, and gastrointestinal symptoms [ 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 ]. ADNP syndrome is among the most common single-gene causes of ASD, estimated to account for 0.17% of all cases [ 4 ].…”