Cognitive deficits and personality patterns in maternally versus paternally inherited myotonic dystrophy.
Neuropsychological functioning was compared between 7 myotonic dystrophy (MD) patients with maternal inheritance (mMD), 14 MD patients with paternal (pMD) inheritance, and 10 normal controls. Both groups evidenced slowed performance on a measure of information processing speed. However, the pMD group had an otherwise normal neuropsychological profile. In contrast, the mMD group exhibited abnormal scores on measures of intelligence, visual-construction, and some, albeit not all, measures of frontal functioning. No significant differences between the three groups were detected on measures of verbal or visual memory, or on measures of visual-perception. Overall, these findings suggest that inheritance pattern is one important moderating variable in determining the impact of the MD gene on cognitive functioning. Personality assessment revealed a relatively high incidence of dependent tendencies and depressive symptoms, even among pMDs. Given the generally normal cognitive functioning among pMDs, personality/emotional disturbance observed among MD patients may largely reflect their adjustment to having a progressively disabling medical condition, rather than being a direct expression of MD related brain dysfunction.
Palmer
B W
BW
Department of Psychiatry, Harbor-UCLA Medical Center, Torrance 90509-2910.
Boone
K B
KB
Chang
L
L
Lee
A
A
Black
S
S
D000328:Adult; D003072:Cognition Disorders / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology; D005260:Female; D005625:Frontal Lobe / Q000503:physiopathology; D006580:Genetic Carrier Screening; D006801:Humans; D007360:Intelligence / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology; D009483:Neuropsychological Tests; D010552:Personality Assessment; D010554:Personality Disorders / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology; D010641:Phenotype; D011597:Psychomotor Performance / Q000502:physiology