Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1.

AIM: To investigate the psychiatric and cognitive phenotype in young individuals with the childhood form of myotonic dystrophy type 1 (DM1). METHOD: Twenty-eight individuals (15 females, 13 males) with childhood DM1 (mean age 17y, SD 4.6, range 7-24y) were assessed using standardized instruments and cognitive testing of general intelligence, visual attention, and visual-spatial construction abilities. RESULTS: Nineteen patients had repeated a school grade. The mean (SD) Full-scale IQ was 73.6 (17.5) and mean Verbal IQ was significantly higher than the mean Performance IQ: 80.2 (19.22) versus 72.95 (15.58), p=0.01. Fifteen patients had one or more diagnoses on the DSM-IV axis 1, including internalizing disorders (phobia, n=7; mood disorder, n=6; other anxiety disorders, n=5) and attention-deficit-hyperactivity disorder, inattentive subtype (n=8). Twelve out of 22 patients had alexithymia (inability to express feelings with words and to recognize and share emotional states). Cognitive testing found severe impairments in visual attention and visual-spatial construction abilities in four out of 18, and 14 out of 24 patients respectively. No diagnosis was correlated with the transmitting parent's sex or with cytosine-thymine-guanine (CTG) repeat numbers. Patients with severe visual-spatial construction disabilities had a significantly longer CTG expansion size than those with normal visual-spatial abilities (p=0.04). INTERPRETATION: Children and adolescents with childhood DM1 have frequent diagnoses on DSM-IV axis 1, with internalizing disorders being the most common type of disorder. They also have borderline low intelligence and frequent impairments in attention and visual-spatial construction abilities.

[Wiscosin card sorting task in patients with schizophrenia and thier siblings]. / Test Wisconsin chez les patients souffrant de schizophrénie, et leurs frères et soeurs.

OBJECTIVE: This study's first objective was to confirm that patients with schizophrenia and their nonmentally ill siblings share the same impaired executive function when compared to healthy control subjects. The second objective was to study the relation between Wisconsin card sorting task (WCST) performance and the persistence and severity of clinical symptoms, as well as different clinical dimensions. METHOD: Ninety subjects were involved in this study, divided in 3 groups of 30 each: one group of patients with schizophrenia, one group of their siblings, and a control group. Symptom severity was assessed with the Positive and Negative Syndrome Scale (PANSS), and social functioning was measured by the Global functioning scale (GFS). The WCST was administered to all 3 groups. RESULTS: Patients with schizophrenia and their siblings had a significantly lower WCST performance than control subjects. Statistical analysis showed that the patient group had a significantly greater impaired WCST performance than the 2 other groups. Siblings also had a significantly lower performance than the control subjects. Furthermore, no significant relation was found between WCST performance and other variables, including age, gender, education, illness duration, treatment, and different PANSS and GFS scores. CONCLUSION: Patients with schizophrenia and their nonmentally ill siblings share the same impaired executive function. These findings suggest that WCST performance can be considered a schizophrenia vulnerability marker in siblings of patients with schizophrenia.