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
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 8
- 试验地点
- 1
- 主要终点
- Developmental progress measured by the Ages and Stages Questionnaires - Turkish Adaptation (ASQ)
研究概览
简要总结
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.
详细描述
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).
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Supportive Care
- 盲法
- None
入排标准
- 年龄范围
- 12 Months 至 36 Months（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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
排除标准
- •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
结局指标
主要结局
Developmental progress measured by the Ages and Stages Questionnaires - Turkish Adaptation (ASQ)
时间窗: Baseline, Week 12, Week 16
Developmental progress of infants aged 12-36 months diagnosed with SMA Type 1 will be assessed using ASQ. The scale evaluates communication, gross motor, fine motor, problem solving, and personal-social domains. Domain scores range from 0 to 60. Higher scores indicate better developmental performance.
Social-emotional developmental progress measured by the Ages and Stages Questionnaires: Social-Emotional - Turkish Adaptation (ASQ-SE)
时间窗: Baseline, Week 12, Week 16
Social-emotional development will be assessed using ASQ-SE. Total scores range from 0 to 60. Higher scores indicate better social-emotional development.
次要结局
- Caregiver Knowledge of Child Development Inventory "CKCDI"(Baseline, Week 12, Week 16)
研究者
Ayşıl Seda TOGUR
Lecturer
Medipol University