The Effect of Developmental Support Provided to Mothers of Infants/Children Diagnosed With Spinal Muscular Atrophy (SMA) on the Development of Their Infants/Children and on Mothers' Developmental Knowledge
The Effect of Developmental Support Provided to Mothers of Infants/Children Diagnosed With Spinal Muscular Atrophy (SMA) on the Development of Their Infants/Children and on Mothers' Developmental Knowledge
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder causing progressive muscle weakness and atrophy. This mixed-methods study aims to provide developmental support to mothers of infants (aged 12-36 months) with SMA Type 1 and to evaluate its impact on infants' developmental outcomes and mothers' developmental knowledge.
Participants included eight mothers of infants/children diagnosed with SMA Type 1 who were recruited through purposive sampling from a university hospital. Quantitative data were collected using a General Information Form, the Ages and Stages Questionnaires (ASQ), the Ages and Stages Questionnaires: Social-Emotional (ASQ-SE), and the Caregiver Knowledge of Child Development Inventory (CKCDI). Qualitative data were obtained through semi-structured interviews exploring mothers' experiences with the developmental support program.
The intervention consisted of a 12-week online developmental support program delivered once a week for 90 minutes. Outcome assessments were conducted at baseline, immediately after the intervention, and four weeks after the intervention (follow-up assessment) to evaluate the sustainability of the intervention effects.
Aim of the Study
Spinal Muscular Atrophy (SMA) is a progressive, hereditary neuromuscular disorder primarily characterized by motor neuron degeneration due to SMN protein deficiency. Although recent advances in pharmacological treatments and newborn screening programs have significantly improved survival rates and disease prognosis, the literature remains predominantly focused on motor and respiratory outcomes. Consequently, limited attention has been given to the overall developmental trajectories of children with SMA, particularly in the domains of cognitive, language, social-emotional, and behavioral development.
As life expectancy increases and symptom severity decreases with early diagnosis and treatment, new questions have emerged regarding how SMA affects children's broader developmental processes and how environmental limitations, restricted mobility, communication difficulties, and prolonged medical care may influence cognitive and language acquisition. Existing findings are contradictory: some studies report normal or even above-average cognitive performance, while others highlight deficits in attention, executive functioning, and communication-especially in children with SMA Type I and II. Moreover, research addressing parental knowledge, parent-child interaction quality, and developmental guidance remains scarce, despite evidence that parental stress, uncertainty, and insufficient information significantly affect family well-being. To comprehensively assess, monitor, and support the overall development of children aged 12-36 months diagnosed with SMA and receiving treatment, through structured developmental guidance provided to their parents. Identify developmental needs across all developmental domains rather than focusing solely on motor skills, Strengthen parents' knowledge of child development and improve the quality of parent-child interactions, Provide developmental follow-up integrated into multidisciplinary SMA care, Contribute to the limited national and international literature addressing holistic developmental monitoring in children with SMA.
Methodological Framework of the Study
This study is designed within a pre-test - post-test - follow-up (retention) experimental framework focusing on early childhood developmental support delivered through parents. Children aged 12-36 months diagnosed with SMA Type 1 and currently receiving treatment, Their primary caregivers (mothers/parents).
Procedure
Pre-Assessment (Pre-test): Comprehensive developmental evaluation of children across motor, cognitive, language, social-emotional, and adaptive domains using standardized developmental assessment tools.
Assessment of mothers' developmental knowledge using the Caregiver Knowledge of Child Development Inventory (CKCDI).
Intervention Phase (Developmental Parental Guidance Program): Parents receive structured developmental guidance tailored to the child's SMA type, developmental profile, and needs.
Guidance includes: Enriching the home environment, Supporting parent-child interaction, Providing stimulation strategies for cognitive and language development, Reducing the negative impact of environmental restrictions and screen exposure, Teaching parents how to observe, support, and monitor developmental progress.
Post-Assessment (Post-test): Re-evaluation of children's overall development, Re-assessment of parental knowledge and interaction quality. Follow-up Assessment (Retention Test): Examination of the sustainability of developmental gains and parental knowledge over time.
When parents of children with SMA are provided with structured developmental knowledge and guidance, they can compensate for environmental limitations caused by the disease and actively support their children's cognitive, language, social, and emotional development, in addition to motor development.
Expected Contribution
This study differs from previous SMA research by: Moving beyond prognosis and motor outcomes, Systematically evaluating all developmental domains, Integrating developmental monitoring into SMA care, Positioning parents as active developmental partners, Providing an early intervention model specific to children with SMA.
The study is expected to contribute significantly to both national and international literature by proposing a holistic, development-oriented, family-centered model for children living with SMA.
Inclusion Criteria Infants/children aged 12-36 months diagnosed with SMA Type 1 Infants/children receiving or having previously received any approved pharmacological treatment for SMA Type 1 Infants/children not receiving any developmental support intervention other than routine physical therapy and swallowing therapy Mothers who are the primary caregivers of the infants/children Mothers who are able to communicate in Turkish Mothers who voluntarily provide written informed consent and agree to participate in the intervention program
Exclusion Criteria Infants/children with a tracheostomy Infants/children younger than 12 months or older than 36 months Infants/children receiving any developmental intervention other than routine physical therapy and swallowing therapy Mothers who decline participation or withdraw informed consent