The genetics of disorders with synuclein pathology and parkinsonism.

Despite being considered the archetypal non-genetic neurological disorder, genetic analysis of Parkinson's disease has shown that there are at least three genetic loci. Furthermore, these analyses have suggested that the phenotype of the pathogenic loci is wider than simple Parkinson's disease and may include Lewy body dementia and some forms of essential tremor. Identification of alpha-synuclein as the first of the loci involved in Parkinson's disease and the identification of this protein in pathological deposits in other disorders has led to the suggestion that it may share pathogenic mechanisms with multiple system atrophy, Alzheimer's disease and prion disease and that these mechanisms are related to a synuclein pathway to cell death. Finally, genetic analysis of the synuclein diseases and the tau diseases may indicate that this synuclein pathway is an alternative to the tau pathway to cell death.     

Psychiatric disorders and survival after lung transplantation.

The 30 patients who underwent lung transplantation between 1990 and 1996 were included in this study, and data were analyzed to find predictors of 1-year survival posttransplantation. All patients were followed throughout the posttransplantation period. Fifteen patients had a pretransplantation diagnosis of an anxiety and/or depressive disorders. Of the 30 patients transplanted, 19 survived 12 months or more, and 11 died less than 12 months posttransplantation. The > 12-month survival group had a mean age of 45.2 years at transplantation, compared with a mean age of 43.0 years in the < 12-month group (NS). The mean Psychosocial Assessment of Candidates for Transplant score and premorbid history of smoking did not differ between the groups. The > 12-month survival group had more psychiatric illness pretransplantation than the < 12-month survival group (56% vs. 27%, P < 0.05). The recipients with a psychiatric history (N = 15) were more likely to survive 1 year posttransplantation than the recipients without a psychiatric history (80% vs. 47%, P < 0.05) and were not significantly different from the recipients without a psychiatric history in terms of episodes of rejection, bronchiolitis obliterans, or noncompliance with treatment. Depression and anxiety are treatable disorders that occur frequently in patients with end-stage lung disease, and a premorbid history of either did not predict a worse outcome posttransplantation in this study of lung transplantation recipients.     

Psychiatric symptoms and disorders in phenylketonuria

Psychological and psychiatric problems are well documented across the lifespan of individuals with early-treated phenylketonuria (PKU). Early-treated children and adolescents tend to display attentional problems, school problems, lower achievement motivation, decreased social competence, decreased autonomy, and low-self-esteem. As they enter adulthood, early-treated individuals may carry forward low self-esteem and lack of autonomy but also tend to develop depressed mood, generalized anxiety, phobias, decreased positive emotions, social maturity deficits, and social isolation. The correlation between level of metabolic control and severity of symptoms suggests a biological basis of psychiatric dysfunction. Additionally, psychosocial factors such as the burden of living with a chronic illness may contribute to psychological and psychiatric outcomes in PKU. The lack of a PKU-specific psychiatric phenotype combined with the observation that not everyone with PKU is affected highlights the complexity of the problem. More research on psychiatric and psychological outcomes in PKU is required. Of particular importance is the routine monitoring of emotional, behavioral, and psychosocial symptoms in individuals with this metabolic disorder. Longitudinal studies are required to evaluate the impact of new and emerging therapies on psychiatric and psychosocial functioning in PKU. Unidentified or untreated emotional and behavioral symptoms may have a significant, lifelong impact on the quality of life and social status of patients.     

Personality and substance use disorders: II. Alcoholism versus drug use disorders.

The relationship between personality and substance use disorders was investigated in a community-based sample of 638 individuals who were alcoholic and/or had a drug use disorder, and 1,530 individuals who did not have a substance use disorder. Personality was assessed by the Multidimensional Personality Questionnaire; substance use diagnoses were based on standard criteria as assessed by interview. Data were analyzed using a 3-factor (Gender x Alcoholism x Drug Use Disorder) multivariate analysis of variance. The significant alcoholism main effect was associated primarily with negative emotionality, whereas the significant drug use disorder main effect was associated primarily with constraint. No significant interactions with gender were observed. These findings suggest that the elevated levels of behavioral disinhibition observed with alcoholic individuals may be attributable to a subset of alcoholic individuals who also abuse drugs other than alcohol.     

Studies in the relationship between depressive disorders and anxiety states. Part 2. Clinical items

A principal component analysis of the clinical items recorded on a standard proforma for 108 patients suffering from anxiety, depressive and phobic neurosis yielded 2 clinically important components. There was considerable overlap between diagnostic groups when patients' component scores were plotted but the degree of misclassification was reduced to about 18% following discriminant function analysis. For the first component the most important discriminators with depressive weighting were depressed mood and pessimistic outlook, whereas reactivity of depression and increased physiological responses carried anxiety weighting. In the second component depressed mood and pessimistic outlook were the highest depressive discriminators and highest positive anxiety ones were increased physiological responses, situational phobias and compulsive phenomena.     

Psychiatric disorders in burn patients: a follow-up study

BACKGROUND: We report on a prospective study of 45 patients with burn injuries admitted to a major burn unit in the greater Athens area. The study aimed to explore the prevalence of psychological and psychiatric disorders among burn survivors. METHODS: The sample comprised all consecutive cases of adult burn patients in a 6-month period. Personal interviews were conducted by the administration of the Langner scale and the DSM-III-R Structured Clinical Interview. Twelve months later, 30 patients of the baseline sample were reexamined. RESULTS: Psychological impairment was found to be 45.5 and 40% at the baseline and follow-up assessments, respectively. The extent of burns was found to be associated with psychological impairment. The prevalence of psychiatric disorders (any DSM-III nosological entity) reached 46.6% at both baseline and follow-up examinations. Posttraumatic stress disorder was diagnosed in 17.8 and 20.0% of burn survivors at the baseline and the 12-month follow-up assessments, respectively. Logistic regression analysis revealed that face disfigurement was the only burn characteristic significantly associated with the presence of psychiatric morbidity. CONCLUSIONS: The results of the study suggest that the extent of burns is not so important when compared to the possibility of disfigurement from the point of risk of developing a psychiatric disorder.     

Psychiatric disorders before and after living-related transplantation

The authors examined psychiatric disorders among two samples of patients who underwent living-related transplant (LRT) for kidney and liver failure. The postoperative prevalence of psychiatric disorders for adult transplant recipients was highest the first 3 months posttransplant. The incidence of psychiatric disorders in the adult recipients with living-related liver transplant (LRLT) was higher (54%, 22 of 41) than that of adult recipients with living-related kidney transplant (LRKT) (28%, 65 of 234). Twelve (80%) of the 15 adult LRLT recipients with adult child-to-parent donors exhibited paradoxical psychiatric syndrome (PPS). Among the 12 affected recipients, guilt-based psychiatric disorders of various types occurred despite successful operative outcome for both donor and recipient. The higher rate of psychiatric disorders among adult LRLT recipients was associated with the occurrence of PPS among recipients of an adult-child allograft. These results signal a new challenge for consultation psychiatrists working with transplant patients.     

Psychiatric disorders and functioning in hepatitis B virus carriers

The authors compared asymptomatic hepatitis B virus carriers and healthy subjects in terms of their psychological state. Participants (43 asymptomatic hepatitis B virus carriers and 43 healthy comparison subjects) completed self-report questionnaires. Psychiatric disorders and psychosocial functioning were evaluated with structured clinical interviews and the Global Assessment of Functioning scale. Hepatitis B virus carriers were more likely to have psychiatric disorders than comparison subjects (30.2% vs. 11.6%). Also, carriers had significantly higher depression and anxiety scores and lower Global Assessment of Functioning scores than did comparison subjects. Worries about contamination and illnesses related to hepatitis B infection were associated with the presence of psychiatric disorder. The results suggest that asymptomatic hepatitis B virus carriers need emotional support.     

Hypernatraemia in cerebral disorders

Six patients are described in whom cerebral damage was associated with raised plasma sodium and chloride concentrations and with extremely low urinary outputs of sodium and chloride. The patients were not clinically dehydrated and direct determinations showed that the blood and plasma volumes, the endogenous creatinine clearance, and the urinary output of antidiuretic hormone were normal. For these and other reasons it is concluded that the metabolic picture results not from diminished circulatory volume, water deficiency, sodium deficiency, undetected diabetes insipidus or osmotic diuresis, but from the cerebral damage itself.