Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases.
BACKGROUND
Glycogen storage disease type III (GSDIII) is a rare autosomal recessive disorder due to glycogen debranching enzyme (GDE) deficiency. It results in a multisystemic disease with predominant hepatic and myopathic symptoms. While frequent social maladjustment has been observed in our clinical practice, cognitive and psychological disturbances have never been assessed. The aim of this pilot study was to examine and characterize the cognitive profile of patients with GSDIII.


METHODS
Seven patients (six women and one man, mean age: 38.7 ± 11.6 years) with GSDIII underwent a neuropsychological set of tests assessing global cognitive efficiency, executive functions, social cognition, apathy, and episodic memory.


RESULTS
All patients presented previous psychopathological history. We observed attention fluctuations for each patient, and impaired global cognitive efficiency with deficiencies in executive functions in 5/7 patients. Emotional skills (social cognition) were impaired in five patients. Memory was mostly preserved.


CONCLUSIONS
The impairment in social cognition (recognition of emotions and ability to attribute mental states to others) and executive functions observed could be a consequence of orbito-frontal dysfunction due to the abnormal glycogen metabolism characteristic of the underlying disease. These results are consistent with the hypothesis of a central nervous system involvement in patients with GSDIII, but need to be confirmed in future research. This could explain the social and economic difficulties, and the lack of compliance to the medical follow-up presented by these patients. It suggests that these disturbances need to be taken into account when planning the medical management of patients with GSDIII.
APHP, Groupe Hospitalier Pitié-Salpêtrière, Centre de Référence des Pathologies Neuromusculaires Paris-Est, Institut de Myologie, 83 boulevard de l'Hôpital, 75680, Paris CEDEX 13, France, clairececile.michon@gmail.com.
Claire-Cécile
CC
Michon
Marcela
M
Gargiulo
Valérie
V
Hahn-Barma
François
F
Petit
Aleksandra
A
Nadaj-Pakleza
Ariane
A
Herson
Bruno
B
Eymard
Philippe
P
Labrune
Pascal
P
Laforet
D000328:Adult; D003071:Cognition; D003072:Cognition Disorders / Q000175:diagnosis*; D056344:Executive Function; D005260:Female; D006010:Glycogen Storage Disease Type III / Q000150:complications* / Q000523:psychology*; D006801:Humans; D007802:Language; D008297:Male; D008568:Memory; D008875:Middle Aged; D009483:Neuropsychological Tests / Q000706:statistics & numerical data*; D010865:Pilot Projects; D055815:Young Adult