Endocrine Abstracts

Background: Alstrom syndrome (AS; OMIM#203800) is a rare (<1:100.000) autosomal recessive monogenic ciliopathy and it is caused by mutations in ALMS1 (chromosome 2p13), which function is still unknown. AS is characterized by multisystemic fibrosis, cone-rod retinal dystrophy leading to blindness, hearing loss, obesity, type 2 diabetes mellitus (T2DM), dilated cardiomyopathy, and progressive hepatic and renal failure. Most patients present neurological issue on developmental age and they had normal intelligence on adulthood with magnetic resonance study that showed brain atrophy, periventricular white matter abnormalities, lacune-like lesions, or supratentorial myelin abnormalities, lacune-like lesions, or supratentorial myelin abnormalities.

Aim: We aim to investigate cognitive functions in a group of pediatric and adult patients with AS.

Methods: We studied 19 AS patients (pts), 13 adults and 6 children (mean age 24.63 years; range 8–59, 8 males). All patients underwent neuropsychological tests: verbal comprehension index, digit span, phonemic and semantic verbal fluency, ideomotor and buccofacial apraxia, word and pseudo-word repetition, activities of daily living and instrumental activities of daily living. We also collected patients’ clinical data.

Results: From a clinical point of view, we found 17/19 pts presented vision deficit, 16/19 pts had hearing deficit, 14/19 pts were overweight, 10/19 pts had dyslipidemia, 7/19 pts were diabetic, 3/19 pts had renal impairment, 11/19 pts had a liver dysfunction and 11/19 pts had cardiovascular comorbidities. At neuropsychological test the majority of the patients, 53%, showed difficulties in the auditory working memory test (pseudo-word repetition). The most important deficit, however, was observed in the apraxia tests. Both ideomotor and buccofacial apraxia were found in 74% of the sample. Correlational analyses showed that the performance on the ideomotor apraxia test negatively correlated with the onset of the visual deficit (r=−0.48; P<0.05), whereas the performance on the buccofacial apraxia test negatively correlated with the onset of the auditory deficit (r=−0.49; P<0.05).

Conclusions: We found that patients with AS showed difficulties in the auditory working memory with a buccofacial and ideomotor apraxia. These new findings may be related with sensory deficit onset but further tests are needed to explain this relationship.