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Development of a Patient and Caregiver-Centered Pediatric Disease Concept Model for Kleefstra Syndrome

Kristen L Connors1, Nikkola E Carmichael1, Terry Jo Bichell2

  • 1Boston University Chobanian & Avedisian School of Medicine, MA, USA.

Sage Open Pediatrics
|July 4, 2025
PubMed

Insights

Kleefstra syndrome (KLEFS1) impacts gross motor skills and communication. Patient and caregiver interviews identified key challenges to inform new targeted therapies for this rare neurodevelopmental disorder.

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Kleefstra syndrome (KLEFS1) is a rare neurodevelopmental genetic disorder caused by EHMT1 loss-of-function.
  • Currently, no targeted therapies are approved for KLEFS1.
  • Disease Concept Models (DCMs) can identify intervention targets through patient and caregiver insights.

Purpose of the Study:

  • To develop a KLEFS1-specific DCM.
  • To identify patient-centered targets for condition-specific interventions.

Main Methods:

  • Semi-structured interviews were conducted with 16 caregivers of individuals under 18 with KLEFS1 and 2 healthcare providers.
  • Interviews were coded, and themes were grouped into categories: defining features, individual impacts, caregiver impacts, and developmental age groups.

Main Results:

  • Delayed or impaired gross motor skills were the most cited defining feature (93.8%).
  • Communication was identified as a key area for improving quality of life by caregivers and HCPs.
  • Impacts on individuals included therapy needs (100%), while caregiver impacts focused on time and organization for care (75%).

Conclusions:

  • The developed pediatric KLEFS1 DCM offers a patient-centered view of lived experiences.
  • Communication, physical mobility, and emotional/behavioral regulation challenges are key targets for KLEFS1 interventions.
  • Intervention success should prioritize independence in daily activities, self-care, and social skills.
Abstract

Keywords:
Kleefstra syndromeadolescencecaregiver perspectivedisease concept modelneurodevelopmental disorderoutcome measurespatient-centeredrare disease

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