Visual imagery imitation skills and cognitive functions in patients with Schizophrenia.

Background/Objectives: Visual demonstration by occupational therapists is very common in psychiatric treatment, however, some patients with schizophrenia could not imitate the actions despite the absence of any physical impairments. Therefore, the purpose of this study was to identify how cognitive functions such as attention and cognitive processes in the imitation process is necessary and how these processes were related to the ability to convert this into action (imitation) in patients with schizophrenia. Method: The participants were patients with schizophrenia with mean age 59.2 (± 11.3) years, 23 were men and 10 were women. The participants were tested for imitation ability and cognitive function, working memory, and motor imagery. Results: Three subjects achieved full scores in the visual imitation test. However, the median of the total score was 10.0, with many subjects failing to imitate multiple tasks. Imitation learning is associated with duration of illness(t = -4.09, p = .000), mental health(t = -2.30, p = .029), and cognitive function such as the ability to retain visual information(t = -2.97, p = .006), and that these factors are interrelated. Conclusion: To effectively promote imitation learning in patients with schizophrenia, occupational therapists need to establish teaching methods that make it easier for learners to retain visual information from the early stages of their illness.

DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A.

Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant disease characterized by adult-onset tremulous hand movement, myoclonus, and infrequent epileptic seizures. Recently, intronic expansion of unstable TTTCA/TTTTA pentanucleotide repeats in SAMD12, TNRC6A, or RAPGEF2 was identified as pathological mutations in Japanese BAFME pedigrees. To confirm these mutations, we performed a genetic analysis on 12 Japanese BAFME pedigrees. A total of 143 participants, including 43 familial patients, 5 suspected patients, 3 sporadic nonfamilial patients, 22 unaffected familial members, and 70 unrelated controls, were screened for expanded abnormal pentanucleotide repeats in SAMD12, TNRC6A, RAPGEF2, YEAT2, MARCH6, and STARD7. DNA samples were analyzed using Southern blotting, long-range polymerase chain reaction (PCR), repeat-primed PCR, and long-range PCR followed by Southern blotting. Of the 51 individuals with clinically diagnosed or suspected BAFME, 49 carried a SAMD12 allele with an expanded TTTCA/TTTTA pentanucleotide repeat. Genetic and clinical anticipation was observed. As in previous reports, the one patient with homozygous mutant alleles showed more severe symptoms than the heterozygous carriers. In addition, screening for expanded pentanucleotide repeats in TNRC6A revealed that the frequency of expanded TTTTA repeat alleles in the BAFME group was significantly higher than in the control group. All patients who were clinically diagnosed with BAFME, including those in the original family reported by Yasuda, carried abnormally expanded TTTCA/TTTTA repeat alleles of SAMD12. Patients with BAFME also frequently carried a TTTTA repeat expansion in TNRC6A, suggesting that there may be unknown factors in the ancestry of patients with BAFME that make pentanucleotide repeats unstable.

Anger is a distinctive feature of epilepsy patients with depression.

Controversy exists regarding the similarity between depression as seen in patients with epilepsy and in those with idiopathic major depression. The objective of this study was to examine whether anger is a distinctive feature of depression in epilepsy. Participants included 487 adult patients with epilepsy (study group) and 85 patients with idiopathic major depression according to Diagnostic and Statistical Manual of Mental Disorders Fourth Edition (DSM-IV) criteria, and without other neurological complications (control group). All participants completed the Inventory of Depressive Symptomatology Self-Report (IDS-SR) and the Buss-Perry Aggression Questionnaire (BAQ). The IDS-SR is a self-report questionnaire that measures depression severity and assesses all symptoms of depression as defined by the DSM-IV. The BAQ is a self-rating scale designed for assessing aggression. After examining potential confounding factors (i.e., demographic and clinical variables) using a multivariate linear regression model, BAQ scores were compared between the study (n = 85) and control groups (n = 54) for patients with moderate or severe depression using established cut-off points (IDS-SR score > 25). BAQ scores were significantly higher in the study group (P = 0.009). Among the BAQ subscales, only anger showed a statistically significant difference (P = 0.013). Although a significant correlation was revealed between the IDS-SR and BAQ scores in the study group, no such correlation was found in the control group. Thus, anger might be a constituent component of depression among epilepsy patients, but not among idiopathic major depression patients.

Marital status of patients with epilepsy with special reference to the influence of epileptic seizures on the patient's married life.

PURPOSE: We investigated the marital status of the patients with epilepsy to clarify the clinical factors impeding improvement of the quality of life in adults with epilepsy. METHODS: We examined the marital status of adult patients with epilepsy who did not have mental retardation and had been treated at Hirosaki University Hospital, Hirosaki, Japan, for >5 years. The present study included 278 patients (142 men and 136 women) ranging from age 20 to 60 years. RESULTS: Sixty-six men and 52 women were single. Seventy-six males and 84 females had been married. The present study investigated the proportion of patients in whom seizures were controlled at the time of marriage. Percentages were only 30% for men and 22% for women. This result showed that in many patients, seizures were not controlled when they were married, which suggests that seizures themselves may not markedly inhibit marriage. Thirteen men and 16 women (total, 29 patients) had experienced divorce. Epilepsy was the cause of divorce in seven of the 29 patients who had been divorced. Of these seven patients, only one patient had informed the spouse of the disease before marriage. In the remaining six patients, seizures were witnessed after marriage or the disease was revealed by medication, which resulted in divorces. CONCLUSIONS: Concerning the association between marriage and the job, a close relation was found between the presence or absence of marriage and the presence or absence of a job among male patients.

Impaired M-current and neuronal excitability.

PURPOSE: Benign familial neonatal convulsions (BFNC), a hereditary epilepsy, occurs specifically in newborns and remits spontaneously after this period. Several mutations of either KCNQ2 or KCNQ3, members of the KCNQ-related K+-channel (KCNQ-channel) family, were identified as a cause of BFNC. Such mutations impair KCNQ-related M- current, an element of the inhibitory system in the central nervous system (CNS), and therefore are thought to result in neuronal hyperexcitability. METHODS: To clarify the pathogenesis of BFNC, this study investigated the effects of the KCNQ channel on propagation of neuronal excitability using a 64-channel multielectrode dish (MED64) system for novel two-dimensional monitoring of evoked field potentials including fiber volley (FV) and field excitatory postsynaptic potential (fEPSP). RESULTS: Dup996, a selective KCNQ-channel inhibitor, did not affect the amplitude of FV or fEPSP, but enhanced the FV and fEPSP propagation. The gamma-aminobutyric acid (GABA)A-receptor antagonist, bicuculline, enhanced their propagation, whereas alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionate (AMPA)/glutamate-receptor antagonist, DNQX, reduced both amplitude and propagation of fEPSP without affecting those of FV. Under the condition of GABAA-receptor blockade by bicuculline, Dup996 enhanced the amplitude of fEPSP and propagation of FV and fEPSP without affecting the amplitude of FV. Dup996 enhanced the stimulating effects of bicuculline on the propagation and amplitude of FV and fEPSP, but it did not affect the inhibiting effects of DNQX. CONCLUSIONS: These results suggest that the occurrence of BFNC cannot be produced by KCNQ-channel dysfunction alone but by reciprocal action between impaired KCNQ channel and the other unknown.