Effects of Developmental Support for Mothers of Infants With Spinal Muscular Atrophy

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 will include 13 mothers recruited via purposive sampling from a university hospital's Pediatric Chest Diseases Outpatient Clinic. Inclusion criteria require mothers to have infants with SMA Type 1 who are receiving pharmacological treatment and do not have a tracheostomy. Ten mothers will be assigned to the intervention group, and three to the control group. Data will be gathered using quantitative and qualitative tools. Quantitative instruments include a General Information Form, the Ages and Stages Questionnaires (ASQ) and its Social-Emotional version (ASQ-SE) for developmental progress, and the researcher-adapted Caregiver Knowledge of Child Development Inventory (CKCDI). Qualitative data will be collected via "Parental reflections on developmental support" from the intervention group. The intervention consists of a 12-week online developmental support program, held once weekly for 90 minutes. Post-test measurements will be administered to both groups immediately after the intervention, followed by a retention test for the intervention group four weeks later. Finally, prioritizing the children's best interests, the control group will receive a four-session developmental support program after the study concludes.

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 any type of SMA 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 parents' knowledge of child development and their interaction patterns with their children. 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 trial.show_full_description

Inclusion Criteria: * Mothers of infants aged 12-36 months diagnosed with SMA Type 1 * Infants receiving pharmacological treatment for SMA * Infants without tracheostomy * Mothers who consent to participate in the study * Mothers who speak Turkish Exclusion Criteria: * Infants with tracheostomy * Infants with additional serious medical conditions that may interfere with the intervention * Mothers who do not consent to participate * Infants who are older than 36 months or younger than 12 months