Functioning and well‐being in older children and adolescents with achondroplasia: A qualitative study - PMC
The study aimed to explore how having achondroplasia affects older children and adolescents' day‐to‐day functioning and well‐being. Individual/focus group interviews were conducted with older children/adolescents between the ages of 9 to <18 years ...
pmc.ncbi.nlm.nih.gov
Study Purpose
The study aimed to explore and detail how achondroplasia affects the daily functioning and well-being of children and adolescents aged 9 to <18 years, using in-depth qualitative interviews to identify key impacts and construct a model of their lived experiences.Methodology
Study Design
- Qualitative, patient-centered research using an adapted grounded theory approach.
- Data Collection:
- 32 participants (16 US, 16 Spain), aged 9–17.
- Interviews: 27 individual phone interviews, 1 in-person focus group (5 participants, Spain).
- Languages: English (US), Spanish (Spain).
- Interviews lasted ~60 minutes (individual) or 2 hours (focus group).
- Recruitment:
- Advocacy organizations, clinician referrals, market research, and snowball sampling.
- Inclusion: Diagnosed with achondroplasia, ages 9–17, able to communicate in English or Spanish.
- Exclusion: Cognitive impairment or other medical condition precluding participation.
- Analysis:
- Transcripts coded in Dedoose software.
- Iterative coding with thematic saturation assessment.
- Major impacts: Reported by ≥30% in each age group (9–11, 12–14, 15–17).
- Minor impacts: Reported by ≥10% in at least two age groups.
Participant Demographics
- Gender: 63% female (n=20), 38% male (n=12).
- Age Groups: 41% aged 9–11, 28% aged 12–14, 31% aged 15–17.
- Diagnosis Timing: 53% in utero, 31% at birth, 13% in infancy, 3% unknown (adopted).
- Parental Achondroplasia: 19% had at least one parent with achondroplasia (all US).
- Self-reported Health: 25% “excellent,” 44% “very good,” 31% “good.”
- Average Height: 118.2 cm (range 94–149 cm).
- Average Weight: 34.2 kg (range 20.4–68 kg).
- Socioeconomic Data: Varied across US and Spain; most US participants from higher-income households.
Key Findings: Specific Impacts
1. Physical Health
- Low stamina/tiring easily: 81% reported this as a frequent issue.
- Back pain: 69% experienced back pain.
- Other symptoms: Leg pain, headaches, sleep issues, chronic ear infections, lumbar hyperlordosis, overweight/obesity.
2. Functioning
- Difficulty reaching objects/high places: 84% struggled with this daily task.
- Difficulty walking long distances: 75% reported this as a barrier.
- Other difficulties: Self-care tasks (bathing, dressing), using public restrooms, opening doors, carrying items.
3. School Impacts
- Trouble participating in physical education: 81% had difficulty in PE classes.
- Other school challenges: Classroom seating, carrying heavy books/bags, participation in group activities, fitting into school furniture.
4. Emotional Well-being
- Feeling different: 63% frequently felt different from peers.
- Worried/scared: 47% reported anxiety or fear.
- Embarrassed/self-conscious: 47% felt embarrassment or self-consciousness.
- Other emotional impacts: Frustration, sadness, anxiety about future, fear of bullying or being stared at.
5. Social Well-being
- Difficulty with sports/physical play: 81% struggled to participate in sports or physical activities with peers.
- Others treating them as younger: 75% were treated as if they were younger than their actual age.
- Other social issues: Exclusion from peer groups, challenges making friends, teasing or bullying, feeling isolated.
Theoretical Model
- Domains: Physical health, functioning, school, emotional well-being, social well-being.
- Temporal Aspects: Differentiates between proximal (immediate) and distal (long-term) impacts.
- Modifying Factors: Age, parental achondroplasia status, and possibly socioeconomic status.
Clinical and Research Implications
- Holistic care: Clinicians should assess and address not only medical but also functional, emotional, and social challenges.
- Intervention development: Findings support the need for school accommodations, psychosocial support, and targeted interventions.
- Measure development: Results highlight the need for achondroplasia-specific quality of life instruments.
- Future research: The model provides a foundation for further studies and validation.
