Psychological Evaluation of the Parental Experience of Newborn Screening for Infantile Spinal Muscular Atrophy in the Grand Est and Nouvelle-Aquitaine Regions

NCT ID: NCT07208903

Last Updated: 2025-10-06

Basic Information

• Recruitment Status: NOT_YET_RECRUITING
• Total Enrollment: 36 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2025-10-20
• Study Completion Date: 2026-10-20

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.

Conditions

Spinal Muscular Atrophy (SMA); Spinal Muscular Atrophy Type I

Study Design

• Observational Model Type: CASE_ONLY
• Study Time Perspective: PROSPECTIVE

Study Groups

Treated positive screening group

Parents of children with a positive neonatal genetic screening result who received treatment (\<4 SMN2 copies)

focus group discussions

Intervention Type: BEHAVIORAL

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

Untreated positive screening group

Parents of children with a positive neonatal genetic screening result who did not receive treatment (≥4 SMN2 copies)

focus group discussions

Intervention Type: BEHAVIORAL

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

False-negative screening group

Parents of children with a false-negative neonatal genetic screening result (diagnosed secondarily)

Interview with the psychologist

Intervention Type: BEHAVIORAL

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

Interventions

focus 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

Intervention Type: BEHAVIORAL

Interview 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

Intervention Type: BEHAVIORAL

Eligibility Criteria

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

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

University Hospital, Strasbourg, France

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Other Identifiers

9759

Identifier Type: -

Identifier Source: org_study_id