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Updated: Sep 7, 2025

Assessment of Dependence in Activities of Daily Living Among Older Patients in an Acute Care Unit
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All in the Family: Living With ADNP Syndrome.

Paula C Fletcher1, Stephanie Pollock, Nicole Luymes

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Clinical Nurse Specialist CNS
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Caring for a child with Helsmoortel-Van Der Aa syndrome (also known as activity-dependent neuroprotective protein syndrome) profoundly impacts family life, necessitating greater support systems for these families.

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Area of Science:

  • Genetics and rare diseases
  • Pediatric care
  • Family studies

Background:

  • Helsmoortel-Van Der Aa syndrome (ADNP syndrome) is a rare genetic disorder.
  • Limited research exists on the lived experiences of families managing ADNP syndrome.

Purpose of the Study:

  • To explore the experiences of one family with a child diagnosed with ADNP syndrome.
  • To understand the impact of ADNP syndrome on family dynamics and daily life.

Main Methods:

  • Retrospective qualitative research design.
  • Semistructured interviews with two primary caregivers.
  • Data credibility enhanced through field notes, member checks, and triangulation.

Main Results:

  • The family's experience, themed "All in the Family," affected all life aspects.
  • Family dynamics were significantly shaped by caregiving responsibilities and living arrangements.
  • Caregivers shared insights into the challenges of managing ADNP syndrome.

Conclusions:

  • Increased support is crucial for families affected by ADNP syndrome.
  • Clinical nurse specialists can play a vital role in supporting caregivers.
  • Further research is essential due to the scarcity of information on ADNP syndrome.