Cognitive Profiles and Brain Volume are Affected in Patients with Silver Russell Syndrome.

Abstract

CONTEXT\nThere is little information on cognitive function in Silver Russell Syndrome (SRS) and no neuroimaging studies are available so far.\n\n\nOBJECTIVE\nTo assess cognitive function and brain volumes in patients with SRS.\n\n\nDESIGN/SETTING\nWechsler Intelligence Scale and Brain magnetic resonance on a 3-Tesla scanner with Voxel-based morphometry analysis were performed between 2016-2018 in a single tertiary University Center.\n\n\nPARTECIPANTS\n38 Caucasian subjects with clinical diagnosis of SRS confirmed by molecular analysis. 30 of these patients (mean age 12.6±10 years) were enrolled for cognitive assessment; 23 of the 30 performed neuroimaging sequences. A control group of 33 school-age children performed cognitive assessment while 65 age and sex-matched volunteers were included for the neuroradiological assessment.\n\n\nMAIN OUTCOMES\nIntelligence Quotient (IQ); Verbal Comprehension Index (VCI), Perceptual Reasoning Index (PRI); Working Memory Index (WMI); Processing Speed Index (PSI); Brain Volume.\n\n\nRESULTS\nThe mean overall IQ score was 87.2±17 and it was significantly lower in the mUPD7 group at the age of 6-16 years compared to 11p15LOM group and to controls. VCI, PRI and WMI were significantly higher in 11p15LOM group and in control group than in mUPD7 group at the age of 6-16 years. There were no significant differences in cognitive scores between 11p15LOM school-aged patients and the control group. SRS patients showed lower brain volume compared to controls at the frontal/temporal poles and globi pallidi.\n\n\nCONCLUSIONS\nPatients with mUPD7 had an impaired cognitive profile. The brain volume at the frontal/temporal lobes and at the globi pallidi was reduced in patients with SRS.