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

NCT07547189 | Active Not Recruiting

• 1 other identifier: E-10840098-202.3.02-5419
• Study Type: interventional
• Target: 13
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Spinal Muscular Atrophy; Developmental Delay

Keywords

Spinal Muscular Atrophy; Baby; Developmental Support; Parent Education

Outcome Measures

Primary Outcomes (2)

• 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 Outcomes (1)

• Caregiver Knowledge of Child Development Inventory "CKCDI"

  Baseline, Week 12, Week 16

Other Outcomes (1)

• Parental reflections on developmental support

  Week 12

Study Arms (2)

Control Group

OTHER

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

Intervention Group

EXPERIMENTAL

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

Interventions

Online Early Intervention Program for Infants with SMA Type 1 BEHAVIORAL

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.

Also known as: SMA Type 1 Early Intervention Program

Intervention Group

Standard Care OTHER

Routine medical care without additional developmental support. Applied to the Control Group during the study.

Control Group

Eligibility Criteria

• Age: 12 Months - 36 Months
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Medipol University: lead
• Istanbul Medipol University Hospital: collaborator

Study Sites (1)

ISTANBUL MEDIPOL UNIVERSITY - Department of Child Development

Istanbul, Beykoz, Turkey (Türkiye)

Location

MeSH Terms

Conditions

Muscular Atrophy, Spinal; Learning Disabilities

Interventions

Standard of Care

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases; Communication Disorders; Neurobehavioral Manifestations; Neurologic Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Neurodevelopmental Disorders; Mental Disorders

Intervention Hierarchy (Ancestors)

Quality Indicators, Health Care; Quality of Health Care; Health Services Administration; Health Care Quality, Access, and Evaluation

Study Officials

• Aysil S TOGUR, MSc

  Ankara University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: SUPPORTIVE CARE
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Lecturer

Model Details: Participants will be assigned to either an intervention group or a control group in a parallel design. Mothers in the intervention group will receive a 12-week online developmental support program, delivered once a week for 90 minutes. Mothers in the control group will not receive any developmental support during the study period. Pre-test and post-test assessments will be conducted for both groups, and a retention assessment will be administered to the intervention group four weeks after the post-test. After completion of the study, the control group will be offered a brief developmental support program for ethical considerations.

Study Record Dates

• First Submitted: March 28, 2026
• First Posted: April 23, 2026
• Study Start: April 8, 2026
• Primary Completion (Estimated): June 1, 2026
• Study Completion (Estimated): August 1, 2026
• Last Updated: April 23, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

TU (1)