Occupational Therapy Approach in ARX-Related Epilepsy

NCT07745608 | Completed

• 1 other identifier: USKUDAR-ARX-OT-1882
• Study Type: interventional
• Target: 20
• Locations: 1 country
• Sites: 1

Brief Summary

This study evaluated the effects of medical ketogenic diet therapy combined with occupational therapy in children with ARX-related epilepsy. Twenty children were included. Ten children receiving a ketogenic diet formed the experimental group, and ten children not receiving a ketogenic diet formed the control group. Both groups received occupational therapy for 16 weeks. Assessments were performed at baseline, week 8, and week 16. Seizure frequency, motor performance, balance, sensory processing, chewing performance, eating behaviors, and health-related quality of life were evaluated.

Conditions

Drug-Resistant Epilepsy; ARX-Related Epilepsy

Keywords

ARX Gene Mutation; Ketogenic Diet; Occupational Therapy; Motor Performance; Sensory Processing; Chewing Performance; Eating Behavior; Health-Related Quality of Life; Seizure Frequency

Outcome Measures

Primary Outcomes (2)

• Change in Weekly Seizure Frequency

  Weekly seizure frequency was calculated from caregiver-recorded seizure diaries. The mean weekly seizure frequency was determined using seizure records collected over the preceding two months. Lower values indicate fewer seizures.

  Baseline, week 8 and week 16

• Change in Pediatric Quality of Life Inventory (PedsQL) Total Score

  Health-related quality of life was assessed using the age-appropriate parent-proxy versions of the Pediatric Quality of Life Inventory (PedsQL 4.0). The total score ranges from 0 to 100, with higher scores indicating better health-related quality of life. Change in total score was evaluated across the three assessment time points.

  Baseline, week 8 and week 16

Secondary Outcomes (5)

• Change in Pediatric Balance Scale Total Score

  Baseline, week 8 and week 16

• Change in Bruininks-Oseretsky Test of Motor Proficiency, Second Edition (BOT-2) Total Motor Composite Score

  Baseline, week 8 and week 16

• Change in Karaduman Chewing Performance Scale Score

  Baseline, week 8 and week 16

• Change in Selected Children's Eating Behaviour Questionnaire (CEBQ) Subscale Scores

  Baseline, week 8 and week 16

• Change in Selected Dunn Sensory Profile Subscale Scores

  Baseline, week 8 and week 16

Study Arms (2)

Experimental Grup (Ketogenic Diet Plus Occupational Therapy)

EXPERIMENTAL

Participants in this arm continued their routine neurological follow-up and prescribed antiseizure medications. They also continued medical ketogenic diet therapy and received occupational therapy for 16 weeks.

Behavioral: Occupational Therapy; Other: Medikal Ketogenic Diet Therapy

Control Group (Occupational Therapy Without Ketogenic Diet)

ACTIVE COMPARATOR

Participants in this arm continued their routine neurological follow-up and prescribed antiseizure medications. They did not receive medical ketogenic diet therapy and received occupational therapy for 16 weeks.

Behavioral: Occupational Therapy

Interventions

Occupational Therapy BEHAVIORAL

Participants received individualized occupational therapy sessions twice weekly for 16 weeks. The intervention was planned according to each child's clinical and functional needs and addressed motor performance, balance, sensory processing, feeding-related skills, chewing performance, and participation in daily activities.

Control Group (Occupational Therapy Without Ketogenic Diet); Experimental Grup (Ketogenic Diet Plus Occupational Therapy)

Medikal Ketogenic Diet Therapy OTHER

Participants in the experimental arm continued medical ketogenic diet therapy prescribed and monitored by their clinical neurology and nutrition teams. The ketogenic diet was not initiated or assigned by the occupational therapy researcher.

Experimental Grup (Ketogenic Diet Plus Occupational Therapy)

Eligibility Criteria

• Age: 4 Years - 7 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• Age between 4 and 7 years.
• Genetically confirmed ARX gene mutation.
• Diagnosis of drug-resistant epilepsy.
• For the experimental group, initiation of or planned initiation of classical ketogenic diet therapy as part of routine clinical care.
• For the control group, continuation of standard neurological treatment and usual diet without ketogenic diet therapy.
• Eligibility for the target age ranges of the assessment tools used in the study.
• Written informed consent provided by a parent or legal caregiver.

You may not qualify if:

• Presence of an additional neurological or genetic disorder, other than ARX mutation and epilepsy, that could affect ketogenic diet implementation or assessment outcomes.
• Presence of a severe orthopedic or systemic medical condition that could prevent completion of follow-up and assessments.
• Severe communicative or cognitive limitations that could prevent valid and reliable administration of the assessment tools.

Sponsors & Collaborators

• Uskudar University: lead

Study Sites (1)

Ilk Evre Special Education and Rehabilitation Center

Istanbul, Istanbul, 34418, Turkey (Türkiye)

Location

MeSH Terms

Conditions

Drug Resistant Epilepsy; Feeding Behavior

Interventions

Occupational Therapy

Condition Hierarchy (Ancestors)

Epilepsy; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Behavior, Animal; Behavior

Intervention Hierarchy (Ancestors)

Rehabilitation; Aftercare; Continuity of Patient Care; Patient Care; Therapeutics

Study Officials

• Sevda Asqarova, PhD

  Uskudar University

  STUDY DIRECTOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: Participants were assigned to two parallel groups according to their existing ketogenic diet status. Both groups received occupational therapy for 16 weeks. The experimental group continued medical ketogenic diet therapy, while the control group did not receive ketogenic diet therapy.

Study Record Dates

• First Submitted: July 29, 2026
• First Posted: August 4, 2026
• Study Start: February 2, 2026
• Primary Completion: May 25, 2026
• Study Completion: May 25, 2026
• Last Updated: August 7, 2026

Record last verified: 2026-08

Data Sharing

• IPD Sharing: Will not share

Locations

TU (1)