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

The Impact of Developmental Support Provided to Mothers of 12-36 Month Old Babies Diagnosed With Spinal Muscular Atrophy (SMA) on Infant Development and 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 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.

Study Overview

• Status: Active, not recruiting
• Conditions: Developmental Delay; Spinal Muscular Atrophy
• Intervention / Treatment: Other: Standard Care; Behavioral: Online Early Intervention Program for Infants with SMA Type 1

Detailed Description

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 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.

• Study Type: Interventional
• Enrollment (Estimated): 13
• Phase: Not Applicable

Contacts and Locations

Study Locations

• Turkey (Türkiye)
  • Beykoz
    • Istanbul, Beykoz, Turkey (Türkiye)
      • ISTANBUL MEDIPOL UNIVERSITY - Department of Child Development

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child
• Accepts Healthy Volunteers: No

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Supportive Care
• Allocation: Non-Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: Control Group; Arm 1: Control Group Description: This group receives standard care during the study and does not participate in the developmental support program. For ethical reasons, a four-session developmental support program will be offered to this group after the completion of the study.	Other: Standard Care; Routine medical care without additional developmental support. Applied to the Control Group during the study.
Experimental: Intervention Group; Participants' mothers receive an online developmental support program for infants with SMA. The program is conducted once a week for 90 minutes over 12 weeks and includes education and guidance on child development and parental support. Post-test and 4-week retention test are administered.	Behavioral: Online Early Intervention Program for Infants with SMA Type 1; A 12-week online program designed and implemented by the researcher for mothers of infants diagnosed with SMA Type 1. Conducted once a week for 90 minutes, the program provides education and guidance to support infants' overall development and enhance parental knowledge and coping skills. Post-test assessments are conducted at the end of the program, and a retention test is administered 4 weeks later. Applied only to the Intervention Group.; Other Names: SMA Type 1 Early Intervention Program

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Developmental progress measured by the Ages and Stages Questionnaires - Turkish Adaptation (ASQ)	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.	Baseline, Week 12, Week 16
Social-emotional developmental progress measured by the Ages and Stages Questionnaires: Social-Emotional - Turkish Adaptation (ASQ-SE)	Social-emotional development will be assessed using ASQ-SE. Total scores range from 0 to 60. Higher scores indicate better social-emotional development.	Baseline, Week 12, Week 16

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Caregiver Knowledge of Child Development Inventory "CKCDI"	Total scores range from 0 to 40. Higher scores indicate greater knowledge of child development.	Baseline, Week 12, Week 16

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
Parental reflections on developmental support	Mothers' experiences will be explored using a semi-structured interview. Qualitative data will be analyzed using content analysis.	Week 12

Collaborators and Investigators

• Sponsor: Medipol University
• Collaborators: Istanbul Medipol University Hospital
• Investigators: Principal Investigator: Aysil S TOGUR, MSc, Ankara University

Study record dates

Study Major Dates

• Study Start (Actual): April 8, 2026
• Primary Completion (Estimated): June 1, 2026
• Study Completion (Estimated): August 1, 2026

Study Registration Dates

• First Submitted: March 28, 2026
• First Submitted That Met QC Criteria: April 20, 2026
• First Posted (Actual): April 23, 2026

Study Record Updates

• Last Update Posted (Actual): April 23, 2026
• Last Update Submitted That Met QC Criteria: April 20, 2026
• Last Verified: April 1, 2026

More Information

Terms related to this study

• Keywords: Parent Education; Spinal Muscular Atrophy; Baby; Developmental Support
• Additional Relevant MeSH Terms: Neurologic Manifestations; Central Nervous System Diseases; Nervous System Diseases; Mental Disorders; Neuromuscular Diseases; Neurobehavioral Manifestations; Neurodegenerative Diseases; Neurodevelopmental Disorders; Spinal Cord Diseases; Motor Neuron Disease; Communication Disorders; Pathological Conditions, Signs and Symptoms; Signs and Symptoms; Muscular Atrophy, Spinal; Learning Disabilities; Health Services Administration; Health Care Quality, Access, and Evaluation; Quality of Health Care; Quality Indicators, Health Care; Standard of Care
• Other Study ID Numbers: E-10840098-202.3.02-5419

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: No individual participant data will be shared due to the privacy and confidentiality of infants diagnosed with SMA Type 1 and their families.

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No