| Autor: |
Keifer, Ekaterina, Berg, Richard L., Richardson, Jesse G., Haws, Robert M. |
| Zdroj: |
American Journal of Medical Genetics. Part A; Jan2024, Vol. 194 Issue 1, p31-38, 8p |
| Abstrakt: |
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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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