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Early development and adaptive functioning in children with Bardet-Biedl syndrome
Ekaterina Keifer1,2, Richard L Berg1, Jesse G Richardson1
1Marshfield Clinic Research Institute, Marshfield, Wisconsin, USA.
Insights
Children with Bardet-Biedl syndrome (BBS) experience significant developmental delays, especially in self-care and expressive language. Specific BBS genotypes and age impact these adaptive skill trajectories.
Area of Science:
- Genetics
- Developmental Pediatrics
- Rare Diseases
Background:
- Bardet-Biedl syndrome (BBS) is a rare genetic disorder affecting multiple organ systems.
- Early developmental assessment is crucial for children with BBS to identify support needs.
- The Clinical Registry Investigating Bardet-Biedl syndrome (CRIBBS) provides valuable longitudinal data.
Purpose of the Study:
- To assess the achievement of developmental milestones in children with BBS.
- To evaluate early adaptive skills in young children with BBS using the ABAS-II.
- To explore genotype-specific differences and the impact of age on development in BBS.
Main Methods:
- Retrospective data analysis from the CRIBBS registry for developmental milestones.
- Administration of the Adaptive Behavior Assessment System (ABAS-II 0-5) by caregivers for adaptive skills.
- Statistical analysis comparing milestone achievement, adaptive skills, BBS genotype, and age.
Main Results:
- Wide-ranging delays in adaptive skills were observed, with Self-Care being particularly affected.
- Expressive language was the most frequently delayed developmental milestone among children with BBS.
- Individuals with BBS1 genotype showed better adaptive and developmental scores compared to those with BBS10.
- Adaptive skill trajectories diverged from normative paths as children with BBS aged.
Conclusions:
- Children with BBS exhibit significant developmental and adaptive skill deficits.
- Early identification and intervention are critical for managing developmental challenges in BBS.
- Understanding genotype-phenotype correlations, like BBS1 vs. BBS10, can inform personalized care strategies.
Abstract:
This study had two aims. Aim one investigated achievement of 10 developmental milestones in children with Bardet-Biedl syndrome (BBS). Aim one data were derived from retrospective responses by caregivers of individuals with BBS who are enrolled in the Clinical Registry Investigating Bardet-Biedl syndrome (CRIBBS). CRIBBS is a natural history registry acquiring serial observations. Aim two investigated early adaptive skills using the Adaptive Behavior Assessment System (ABAS-II 0-5) completed by caregivers of children with BBS aged from 0 to 5. There were 652 individuals with milestone information (with some variability based on availability of information for specific milestones), and 101 individuals (including 95 among the 652) with ABAS-II information. Results revealed wide-ranging delays in adaptive skills, particularly in the domain of Self-Care. Expressive language appears to be the most frequently delayed developmental milestone. We found a difference by BBS genotype wherein individuals with BBS1 had higher adaptive/developmental scores than individuals with BBS10. Age also carried a significant association with adaptive skills diverging farther from a normative trajectory as children with BBS progress through early childhood.
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