Parental Perception of Quality of Life and Impact of Short Stature in Children with Hypochondroplasia and other Genetic Causes of Short Stature
Authors' conclusion
Patients with hypochondroplasia and other genetic causes of short stature had lower scores in multiple domains of QoL compared to ISS/GHD. Older age, male sex, and shorter stature may exacerbate effects on QoL. Additional studies to further explore these associations can clarify the unique challenges and facilitate appropriate medical and psychosocial support for children and their families.
Study context
- Population
- Parents of children with selected genetic causes of short stature in an ongoing phase II clinical trial of vosoritide
- Exposure
- Children with hypochondroplasia and other genetic causes of short stature vs reference population with idiopathic short stature (ISS) and growth hormone deficiency (GHD)
- Outcome
- QoLISSY total QoL score
Methodological detailsparent-reported Quality of Life in Short Stature Youth (QoLISSY) survey, participants of an ongoing phase II vosoritide trial
- Parent-reported QoLISSY survey
- Participants of an ongoing phase II vosoritide trial
Main finding
As reported in the abstract
Cohort
54.0
mean · ± 19.7
Reference population
70.0
mean · ± 22.0
P < 0.001
Observational data: associations, not effects.
Further findings
| Outcome | Cohort | Reference population | P value |
|---|---|---|---|
| Physical scoreLower with Cohort | mean 44.8 ± 21.2 | mean 71.8 ± 23.2 | P < 0.001 |
| Social scoreLower with Cohort | mean 54.0 ± 22.2 | mean 69.4 ± 25.2 | P < 0.001 |
| Effects on parents scoreWorse with Cohort | mean 52.3 ± 20.0 | mean 65.68 ± 24.5 | P < 0.0001 |
Associations and subgroups
- Older age and lower baseline height associated with lower scores
- Lower quality of life (QoL) scores more prominent in males vs reference
- NPR2 mutations had the lowest QoL scores among genetic diagnoses
Original publication
Parental Perception of Quality of Life and Impact of Short Stature in Children with Hypochondroplasia and other Genetic Causes of Short Stature. Horm Res Paediatr. Published 17 March 2025. doi:10.
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