Cognitive, sensory, and psychosocial characteristics in patients with Bardet-Biedl syndrome

• Published in: American journal of medical genetics. Part A Vol. 161A; no. 12; pp. 2964 - 2971
• Main Authors: Brinckman, Danielle D., Keppler-Noreuil, Kim M., Blumhorst, Catherine, Biesecker, Leslie G., Sapp, Julie C., Johnston, Jennifer J., Wiggs, Edythe A.
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.12.2013; Wiley Subscription Services, Inc
• Subjects: Achievement tests; Adolescent; Adult; Age; Auditory discrimination learning; Bardet-Biedl syndrome; Bardet-Biedl Syndrome - genetics; Bardet-Biedl Syndrome - pathology; Bardet-Biedl Syndrome - psychology; brain development; Child; Child, Preschool; Cognition Disorders - genetics; Cognition Disorders - physiopathology; Cognition Disorders - psychology; Cognitive ability; Female; Humans; Intellectual disability; Intelligence; Intelligence - genetics; Learning Disabilities - genetics; Learning Disabilities - physiopathology; Learning Disabilities - psychology; Male; Middle Aged; Neuropsychological Tests; Olfaction; psychometric testing; Reading; Sensory integration; Sensory properties; Short term memory; Social behavior; Surveys and Questionnaires; Verbal learning; brain development; olfaction; Bardet-Biedl syndrome; Intellectual disability; psychometric testing
• ISSN: 1552-4825; 1552-4833; 1552-4833
• DOI: 10.1002/ajmg.a.36245

Forty‐two patients with a clinical diagnosis of Bardet–Biedl syndrome ages 2–61 years were given a neuropsychological test battery to evaluate cognitive, sensory, and behavioral functioning. These tests included the Wechsler scales of intelligence, Rey Auditory Verbal Learning Test, Boston Naming Test, D‐KEFS Verbal Fluency Test, D‐KEFS Color‐Word Interference Test, D‐KEFS Sorting Test, Wide Range Achievement Test: Math and Reading Subtests, Purdue Pegboard, The University of Pennsylvania Smell Identification Test, Social Communication Questionnaire, Social Responsiveness Scale, and Behavior Assessment System for Children, Second Edition, Parent Rating Scale. On the age appropriate Wechsler scale, the mean Verbal Comprehension was 81 (n = 36), Working Memory was 81 (n = 36), Perceptual Reasoning was 78 (n = 24) and Full Scale IQ was 75 (n = 26). Memory for a word list (Rey Auditory Verbal Learning Test) was in the average range with a mean of 89 (n = 19). Fine motor speed was slow on the Purdue with mean scores 3–4 standard deviations below norms. All subjects were microsmic on the University of Pennsylvania Smell Identification Test. Of these 42 patients, only 6 were able to complete all auditory and visual tests; 52% were unable to complete the visual tests due to impaired vision. A wide range of behavioral issues were endorsed on questionnaires given to parents. Most had social skill deficits but no pattern of either externalizing or internalizing problems. We identify a characteristic neuro‐behavioral profile in our cohort comprised of reduced IQ, impaired fine‐motor function, and decreased olfaction. © 2013 Wiley Periodicals, Inc.