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Updated: Apr 9, 2026

Studying Protein Function and the Role of Altered Protein Expression by Antibody Interference and Three-dimensional Reconstructions
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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.

The Clinical Neuropsychologist
|April 8, 2026
PubMed
Summary

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.

Keywords:
BBSBardet–Biedl SyndromeIQcognitionintellectual function

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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.