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

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.

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Key information

Conditions

Spinal Muscular Atrophy (SMA) Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Motor Neuron Disease Muscular Atrophy, Spinal Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases Spinal Cord Diseases Spinal Muscular Atrophies of Childhood Spinal Muscular Atrophy Type I

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

focus group discussions

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

Interview with the psychologist

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

Primary outcomes

Quantitative: Content of the questionnaires completed at the inclusion visit

Time frame: 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

Time frame: 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
Quantitative: Content of the questionnaires completed at the inclusion visit

Time frame: Month 4, plus or minus 2 months
Scores on the HADS scale (Hospital Anxiety and Depression Scale) for anxiety symptoms.

Structure: 14 items total, split into two subscales:
- HADS-A (Anxiety) - 7 items
- HADS-D (Depression) - 7 items Minimum value: 0 (no symptoms). Maximum value: 21 per subscale (if all items scored at the maximum of 3). but 42 total if both subscales are summed. Interpretation: Higher scores reflect a worse outcome, meaning greater anxiety and/or depressive symptom severity.

Sponsors and collaborators

Lead sponsor

University Hospital, Strasbourg, France

Other

Registry information

Acronym: PSYSMA

Important dates

Study start: 2025
Primary completion: 2026
Study completion: 2026
First posted: Oct 6, 2025
Registry last updated: Oct 6, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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