Health-related quality of life in myotonic dystrophy type 1 and its relationship with cognitive and emotional functioning.
OBJECTIVE
To evaluate the health-related quality of life in myotonic dystrophy type 1 and its relationships with clinical, genetic, neuropsychological and emotional factors.


METHODS
Case-control study of a continuous series of patients with myotonic dystrophy type 1.


METHODS
Twenty patients, and 20 age-, sex- and education-matched healthy controls underwent the MOS 36-Item Short-Form Health Survey (SF-36), an extensive neuropsychological battery and emotional functioning tests.


RESULTS
Patients' SF-36 mean scores were lower than those of controls in all dimensions. The neuropsychological study showed a significant impairment in visuospatial and verbal abstract reasoning (p=0.001), visuospatial memory (p=0.002) and attentive functions (p=0.03) in patients with myotonic dystrophy type 1. The emotional assessment showed significantly high scores in anxiety (p=0.002) and depression (p=0.001), which occurred in approximately 50% of patients. Both physical and mental SF-36 areas were inversely correlated with age, duration and grade of disease, depression and anxiety and positively correlated with attentive control. SF-36 areas were not correlated with cytosine thymine guanidine expansion.


CONCLUSIONS
Health-related quality of life is severely impaired in myotonic dystrophy type 1 and it is negatively influenced by severity and duration of disease as well as by specific cognitive deficits and changes in emotional functioning. Therapeutic intervention in this field could contribute to ameliorate health-related quality of life in myotonic dystrophy type 1.
Antonini
Giovanni
G
Department of Neurological Sciences, University of Rome, La Sapienza, Italy. giovanni.antonini@uniroma1.it
Soscia
Federica
F
Giubilei
Franco
F
De Carolis
Antonella
A
Gragnani
Francesca
F
Morino
Stefania
S
Ruberto
Amedeo
A
Tatarelli
Roberto
R
D000223:Adaptation, Psychological; D000328:Adult; D016022:Case-Control Studies; D003072:Cognition Disorders / Q000209:etiology; D004644:Emotions; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000235:genetics / Q000503:physiopathology / Q000523:psychology*; D009483:Neuropsychological Tests; D011788:Quality of Life