P 138 Normal cognitive performances in patients with late-onset Pompe disease

Abstract

Background and objective In addition to increased glycogen accumulations in heart and sckeletal muscle cells, liver cells and lymphocytes, autopsy findings indicate glycogen accumulations in the brain of patients with Pompe disease ( DiRocco et al., 2007 ). Children with classic infantile Pompe disease also present a delayed cerebral myelination ( Chien et al., 2006 ). The cognitive development ranged from normal to mild retarded ( Lai et al., 2016 , Spiridigliozzi et al., 2012 , Ebbink et al., 2012 ). Also in the adult form of Pompe disease there are significant deficits in the executive functions ( Borroni et al., 2013 ). The objective of this study was to examine cognitive functions in patients with late-onset Pompe disease using different neuropsychological test methods. Methods A total of 9 patients (4 females, 5 males) aged 26–81 (M = 53.78, SD = 14.89), with late-onset Pompe disease were tested neuropsychologically in different cognitive domains. This included the examination of the verbal (AVLTtotal), nonverbal (RCFTdelayed) and episodic memory (AVLTdelayed), the attention and concentration (TMT A/B, SDMT), the executive functions (TMT B, BADSkey search, S-Wordsword fluency) and the visuoconstructive abilities (RFCTcopy). Additionally, the severity of depressive symptoms was investigated (ADS-K). Results Patients had no significant deficits in the verbal, nonverbal or episodic memory. The attention and concentration capabilities, executive functions and visuoconstructive abilities were within mean normal range. Furthermore, no pathological values were found in the questionnaire used to examine clinically relevant depressive symptoms. Conclusion Cognitive deficits seem not to be associated symptoms in the adult form of Pompe disease. Thus, the described glycogen accumulations in the brain have no influence on the cognition.