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Intellectual functioning in individuals with Bardet-Biedl syndrome.
Ekaterina Keifer1,2, Rachel Gabor1, Jesse G Richardson1
1Research Computing and Analytics, Marshfield Clinic Research Institute, Marshfield, Wisconsin, USA.
Intellectual functioning varies in Bardet-Biedl Syndrome (BBS), with deficits common but not universal. Non-verbal skills impacted by vision loss significantly affect Full-Scale IQ scores in BBS patients.
Area of Science:
- Neuroscience
- Genetics
- Developmental Psychology
Background:
- Bardet-Biedl Syndrome (BBS) is a rare genetic disorder characterized by a wide range of clinical manifestations.
- Intellectual functioning and adaptive skills are known to be affected in BBS, but the extent and specific patterns require further investigation.
Purpose of the Study:
- To investigate intellectual functioning and adaptive skills in individuals diagnosed with Bardet-Biedl Syndrome.
- To explore the influence of vision loss and specific BBS subtypes (BBS1 and BBS10) on cognitive performance.
Main Methods:
- Retrospective analysis of intellectual and adaptive skills assessments (Wechsler scales, ABAS) from 96 participants in the Clinical Registry Investigating Bardet-Biedl Syndrome (CRIBBS).
- Exclusion of legally blind participants and those over 15 from visual-spatial skill analyses to isolate cognitive abilities.
- Comparison of intellectual and adaptive functioning between BBS1 and BBS10 subtypes.
Main Results:
- Mean Full-Scale IQ (FSIQ) was 73.5, with 38.3% scoring 70 or below.
- Females exhibited higher FSIQ and visual intellectual skills than males.
- Nearly 60% had verbal intellectual skills in the low average range or above; individuals with BBS1 showed stronger verbal skills than BBS10, though adaptive functioning was similar.
Conclusions:
- Intellectual functioning deficits are common in BBS, but a broad spectrum of abilities exists.
- Cognitive impairment is not a prerequisite for a BBS diagnosis.
- Lower FSIQ scores are significantly influenced by vision-dependent non-verbal skills, impacting performance even with milder visual impairment.

