Spinal Muscular Atrophy (SMA), Spinal Muscular Atrophy Type I
Conditions
Brief summary
The systematic inclusion of spinal muscular atrophy (SMA) in France's neonatal genetic screening (NGS) program, scheduled for September 2025, represents a major milestone in public health. While this screening enables early detection and therapeutic intervention before symptom onset, it also raises psychological and ethical challenges that remain underexplored-particularly during the highly sensitive postpartum period. Currently, data on parental experiences following a positive SMA NGS result are scarce, fragmented, and largely derived from North American studies or from metabolic screening contexts. Early publications highlight high levels of parental anxiety, dissatisfaction with the quality of result disclosure, and difficulties in processing complex medical information in a short, emotionally charged timeframe. These findings underscore the need for a deeper understanding of the subjective processes at play in this situation. The PSYSMA project is designed as an ancillary study to the DEPISMA trial. Its aim is to retrospectively explore parents' lived experiences, their psychosocial support needs, and the impact of NGS on family dynamics and the parent-child relationship. Special attention is given to cases with uncertain results (e.g., ≥4 SMN2 copies without treatment) and false negatives, which remain poorly documented but may trigger unique forms of parental anxiety or adaptation. This research is justified by two main needs: * to guide public health policy toward integrating psychological support from the earliest stages of screening, in line with French National Health Authority (HAS) recommendations; * to generate new knowledge transferable to other genetic diseases that may be included in future neonatal screening programs. The overarching goal is to retrospectively investigate the psychological experience of parents confronted with a positive or false-negative SMA NGS result, in order to analyze its subjective, emotional, and relational effects, as well as related needs for psychological support. Study objectives : * Compare parental experiences according to the nature of the result (with or without treatment indication). * Identify psychosocial support needs, including for siblings. * Assess anxiety, depression, and post-traumatic symptoms associated with NGS. * Explore the broader impact on family functioning, particularly in relation to genetic counseling and communication within the extended family.
Interventions
BEHAVIORALfocus group discussions
These sessions will address: * emotional reactions to the disclosure of the result * perceptions and representations of the disease and its treatment * the impact on the parent-child relationship * the lived experience of neonatal screening and the perception of the support provided
BEHAVIORALInterview with the psychologist
These sessions will address: * emotional reactions to the disclosure of the result * perceptions and representations of the disease and its treatment * the impact on the parent-child relationship * the lived experience of neonatal screening and the perception of the support provided
Sponsors
University Hospital, Strasbourg, France
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
* Be the parent of a child included in the DEPISMA study, born in the Grand Est or Nouvelle-Aquitaine region; * Have received a positive or false-negative result from the neonatal SMA screening; * Be an adult at the time of inclusion; * Be proficient in French in order to participate in a focus group or an individual interview, and to complete the self-administered questionnaires; * Have been informed of the NNS result for at least 4 months, to allow sufficient time for a subjective reflection
Exclusion criteria
* Parent who is not sufficiently proficient in French to participate in focus groups or complete questionnaires * Death of the child who was screened
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Quantitative: Content of the questionnaires completed at the inclusion visit | Month 4, plus or minus 2 months | Scores on the IES-R scale (Impact of Event Scale) for post-traumatic stress. Minimum value: 0 (if the person selects not at all for all 22 items). Maximum value: 88 (if the person selects extremely for all 22 items). Interpretation: Higher scores reflect worse outcomes, meaning more severe post-traumatic stress symptoms (intrusion, avoidance, hyperarousal). |
| Qualitative: Content of interviews/focus groups at the follow-up visit regarding | Month 4, plus or minus 2 months | Emotional reactions to the announcement Representations of the illness and its treatment Impact on the parent-child relationship Experience of the screening process and the perception of support received |
Outcome results
None listed