ARX-Related Epilepsy, Drug-Resistant Epilepsy
Conditions
Keywords
ARX Gene Mutation, Ketogenic Diet, Occupational Therapy, Motor Performance, Sensory Processing, Chewing Performance, Eating Behavior, Health-Related Quality of Life, Seizure Frequency
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.
Interventions
BEHAVIORALOccupational Therapy
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.
OTHERMedikal Ketogenic Diet Therapy
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.
Sponsors
Uskudar University
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
TREATMENT
Masking
NONE
Intervention model description
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.
Eligibility
Sex/Gender
ALL
Age
4 Years to 7 Years
Healthy volunteers
No
Inclusion criteria
* 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.
Exclusion criteria
* 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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change in Weekly Seizure Frequency | Baseline, week 8 and week 16 | 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. |
| Change in Pediatric Quality of Life Inventory (PedsQL) Total Score | Baseline, week 8 and week 16 | 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Change in Pediatric Balance Scale Total Score | Baseline, week 8 and week 16 | Functional balance was assessed using the Pediatric Balance Scale, a 14-item performance-based measure. The total score ranges from 0 to 56, with higher scores indicating better functional balance. Changes in total score were evaluated across the three assessment time points. |
| Change in Bruininks-Oseretsky Test of Motor Proficiency, Second Edition (BOT-2) Total Motor Composite Score | Baseline, week 8 and week 16 | Motor performance was assessed using the complete form of the Bruininks-Oseretsky Test of Motor Proficiency, Second Edition (BOT-2). The test includes eight motor subtests. The Total Motor Composite score was used in the analysis, with higher scores indicating better overall motor performance. |
| Change in Karaduman Chewing Performance Scale Score | Baseline, week 8 and week 16 | Chewing performance was assessed using the Karaduman Chewing Performance Scale, an observational classification ranging from 0 to 4. A score of 0 indicates normal and functional chewing performance, whereas a score of 4 indicates the most severe chewing impairment. Lower scores indicate better chewing performance. Changes in score were evaluated across the three assessment time points. |
| Change in Selected Children's Eating Behaviour Questionnaire (CEBQ) Subscale Scores | Baseline, week 8 and week 16 | Eating behaviors were assessed using the parent-reported Children's Eating Behaviour Questionnaire (CEBQ), which consists of items rated on a 5-point Likert scale from 1 (never) to 5 (always). Four subscales were evaluated in this study: Enjoyment of Food, Food Responsiveness, Emotional Undereating, and Food Fussiness. Each subscale was scored and analyzed separately; no overall or composite CEBQ score was calculated. Higher Enjoyment of Food and Food Responsiveness scores, and lower Emotional Undereating and Food Fussiness scores, were interpreted as more favorable changes in the context of this study. Changes in the four subscale scores were evaluated across the three assessment time points. |
| Change in Selected Dunn Sensory Profile Subscale Scores | Baseline, week 8 and week 16 | Sensory processing was assessed using the parent-reported Dunn Sensory Profile. Selected sensory pattern, sensory processing, and behavioral response subscales were evaluated. Each subscale was scored and analyzed separately; no overall composite score was calculated. Higher scores indicate that the behaviors described in the relevant sensory processing domain occur more frequently. Changes in the selected subscale scores were evaluated across the three assessment time points. |
Countries
Turkey (Türkiye)
Contacts
STUDY_DIRECTORSevda Asqarova, PhD
Uskudar University
Outcome results
None listed