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Gross motor development in children with epidermolysis bullosa
Andrew Gorrie1,2, Rebecca Saad2,3, Lydia Garside2
1School of Clinical Medicine, University of New South Wales Sydney, Sydney, New South Wales, Australia.
Insights
Children with Epidermolysis Bullosa (EB) show significantly higher rates of gross motor delay compared to typical development. Recessive dystrophic and EB simplex subtypes require prioritized monitoring and intervention for motor outcomes.
Area of Science:
- Pediatric Physical Therapy
- Developmental Pediatrics
- Genodermatoses Research
Background:
- Epidermolysis Bullosa (EB) is a rare group of congenital skin disorders causing extreme skin fragility and blistering.
- Gross motor development in children with EB has not been previously characterized.
- Understanding motor outcomes is crucial for comprehensive care of children with EB.
Purpose of the Study:
- To quantify the prevalence of gross motor delay in children diagnosed with Epidermolysis Bullosa.
- To compare gross motor outcomes across different subtypes of EB.
- To assess changes in gross motor function over a 24-month period.
Main Methods:
- Children aged 1 month to 5.5 years attending a specialized EB clinic were enrolled.
- Caregivers completed the Ages and Stages Questionnaires, Third Edition (ASQ-3) for their children.
- ASQ-3 scores were analyzed and compared against age-specific normative data.
Main Results:
- A significant proportion of children with EB (29.17%) exhibited gross motor delay, compared to age norms (2.5%).
- Motor delays were observed in 80% of children with recessive dystrophic EB and 33.33% with EB simplex.
- No gross motor delays were noted in the limited sample of dominant dystrophic EB participants.
Conclusions:
- This study highlights significant gross motor impairments in children with EB.
- Children with recessive dystrophic EB and EB simplex warrant focused monitoring and early intervention for motor development.
- Further research is needed to explore long-term motor trajectories and the efficacy of therapeutic interventions in EB.
Background:
Epidermolysis bullosa (EB) is a group of rare, congenital skin disorders, characterized by skin fragility and formation of blisters. The gross motor outcomes of children with EB are not known.
Objectives:
The primary objective of the study was to measure the proportion of gross motor delay in children with EB. The secondary objectives were to measure the difference in gross motor outcomes between EB sub-types and change in gross motor outcomes over time.
Methods:
Children with EB, aged between one month and five and a half years of age, attending the Sydney Children's Hospital, Epidermolysis Bullosa Clinic, were eligible. Carers completed Ages and Stages Questionnaires, Third Edition, on behalf of their children. Questionnaires were scored, and outcomes were compared to age-expected norms.
Results:
There were 24 participants to complete a questionnaire. Eleven participants completed additional questionnaires over the 24 month study duration. The proportion of children with EB with gross motor delay was greater than age-expected norms (29.17% vs. 2.5%). The delay occurred in children with recessive dystrophic (80%) and epidermolysis bullosa simplex (33.33%) sub-types, but not dominant dystrophic (0%). No children with Junctional EB or Kindler EB joined this study.
Conclusions:
This study demonstrates a difference in gross motor outcomes in children with EB. Children with recessive dystrophic and epidermolysis bullosa simplex should be prioritized for monitoring of, and intervention for, gross motor outcomes through multidisciplinary care. Further research investigating long-term outcomes for children with EB and the effectiveness of interventions would be beneficial.
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