Spinal Muscular Atrophy Type 1 (SMA )Type 1 is a severe, early-onset neuromuscular condition that typically leads to profound weakness and impaired bulbar function-affecting swallowing, feeding, speech, and airway protection. Historically, bulbar decline contributed significantly to early morbidity and mortality.
The advent of disease-modifying therapies (DMTs) such as nusinersen, zolgensma and risdiplam (also known as Spinraza, Zolgensma, and Evrysdi) sinersinhas altered the clinical course of SMA Type 1, with emerging evidence of motor improvement and increased survival. However, the impact of these therapies on bulbar function remains poorly understood, and standardised tools for its assessment are lacking.
Qualitative research which uses interviews with parents and carers offers an opportunity to capture nuanced caregiver perspectives, identify meaningful functional outcomes, and explore daily lived experiences in a way quantitative tools currently cannot.
This study will investigate the lived experiences of families managing feeding and communication in children with SMA Type 1.
The research will also aim to
1 Identify emotional, social issues experienced by families and practical support needs related to feeding and communication.
2\. Provide insights that can inform healthcare interventions and support
Parents/guardians of children with a diagnosis of SMA1 who have received any one or more disease modifying therapies[CE7.1][BA7.2][AB7.3]
Participants need to be able to carry out interview in English In addition to parents, grandparents or other relatives with full parental responsibility will be included
Parents/carers who require an interpreter will not be included within the study for reasons of time and cost and because parents may feel less able to be open and honest when communicating with the researcher through a third party.
Primary carer who is a foster carer or corporate parent (i.e. a looked after child) as they are not likely to have the same decision-making 'freedoms'.
Parent/carers of children with SMA1 who have had a disease modifying treatment
Cohort
Retrospective
Not listed
Qualitative themes describing caregiver experiences of feeding and communication in children with SMA Type 1.
The primary outcome is the set of emergent qualitative themes describing caregiver experiences of feeding and communication in children with SMA Type 1. Data will be collected via a single semi-structured interview per participant (approximately one hour) conducted post-consent, and analysed using inductive thematic analysis (NVivo) following completion of data collection.
Broader issues
Social, emotional, and practical challenges related to feeding and communication. Caregiver perceptions of bulbar function following disease-modifying therapies (DMTs). Identification of perceived barriers and support systems impacting feeding and communication, assessed during the same single interview session and analysed thematically.
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