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

University Hospital, Strasbourg, France

Status

Not yet enrolling

Conditions

Spinal Muscular Atrophy Type I

Spinal Muscular Atrophy (SMA)

Treatments

Behavioral: Interview with the psychologist

Behavioral: focus group discussions

Study type

Observational

Funder types

Other

Identifiers

NCT07208903

9759 (Other Identifier)

Details and patient eligibility

About

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.

Enrollment

36 estimated patients

Sex

All

Ages

18+ years old

Volunteers

Accepts Healthy Volunteers

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