Differences based on Bardet-Biedl syndrome (BBS) genotype impact adaptive/developmental scores among children with BBS, according to findings published in the American Journal of Medical Genetics. Ekaterina Keifer, PhD, and colleagues assessed developmental milestones and early adaptive skills in children with BBS. The first objective involved analyzing 10 developmental milestones in BBS using data from the Clinical Registry Investigating BBS (CRIBBS). Caregivers completed the second objective, which examined early adaptive skills in children aged 0-5 through the Adaptive Behavior Assessment System (ABAS-II). The analysis included 652 individuals with milestone information, with variability based on availability of information for specific milestones, and 101 individuals— including 95 of the 652—with ABASII information. Dr. Keifer and colleagues found wide-ranging delays in adaptive skills, especially in self-care. They also found expressive language to be the most frequently delayed developmental milestone. They identified a difference by BBS genotype where individuals with BBS1 had better adaptive/developmental scores than individuals with BBS10. Age was also significantly associated with adaptive skills, with greater divergence from a normative trajectory as children with BBS moved through early childhood.
