Neuropsychiatric and sleep study in autosomal dominant dopa-responsive dystonia.

Introduction: Although the diurnal fluctuation of motor dysfunction, reversible with small doses of dopamine, is a cornerstone for the phenotype of the autosomal dominant Segawa syndrome, the non-motor symptoms of this neurotransmitter deficiency have still received limited attention. Objective: This study aims to evaluate non-motor symptoms of this dopa-responsive dystonia through an intrafamilial comparative cross-sectional study. Methods: Seventeen individuals with a c.IVS5 + 3insT (c.626 + 3insT) variation in the GTP cyclohydrolase-1 gene (GCH1, HGNC: 4193) and 34 intrafamilial controls were studied using the Beck Depression Inventory-II, the Wiener Matrizen Test 2, the Epworth Sleepiness Scale, the Pittsburgh Sleep Quality Index, the MINI/MINI PLUS Questionnaires, the World Health Organization Quality of Life - BREF Instrument and a drug use assessment questionnaire. Results: No significant difference was found between the groups in the prevalence of sleep disorders and in cognitive function. Nevertheless, generalized anxiety disorder (p = 0.050) and attention-deficit/hyperactivity disorder in childhood (p = 0.011) were observed only in individuals without the molecular variation. The group with the GCH1 variation presented a worse perception about how safe they feel in their daily lives (p = 0.034), less satisfaction with themselves (p = 0.049) and with their relationships (p = 0.029), and a higher prevalence of past major depressive episodes before use of L-Dopa (p = 0.046). Conclusion: Low dopamine could have been protective against generalized anxiety disorder and attention-deficit/hyperactivity disorder in childhood in Segawa group individuals. The prevalence of depression was higher in individuals with the molecular variant prior to the L-Dopa treatment. Considering it, the penetrance estimates for the variant carriers increased from 58.8% to up to 88% in this large studied family. Additionally, neuropsychiatric tests of all individuals with a molecular diagnosis in an affected family are a valuable instrument for its clinical management.

The theory of symptom complexes, mind and madness.

Kahlbaum's seminal approach to symptom complexes, as opposed to disease entities, is still relevant. Many psychopathologists have approached mental symptom complexes without prejudging them as necessary physical deficits or diseases, favouring a broader dimensional and anthropological view of mental disorders. Discussions of symptom complexes gained prominence in psychiatry in the early twentieth century - through Hoche - and in the period leading up to World War II - through Carl Schneider. Their works, alongside those of Kraepelin, Bumke, Kehrer, Jaspers and others, are reviewed in relation to the theme of symptom complexes, the mind, and mental disorders. A particular feature of symptom complexes is their relationship to aspects of the normal mind and how this affects clinical manifestations. It is further suggested that symptom complexes might offer a useful bridge between the psychic and the biological in theories of the mind.

Seeing Beyond Diseases and Disorders: Symptom Complexes as Manifestations of Mental Constituents.

Many psychopathologists have approached symptom complexes without prejudging them as physical deficits or diseases, an approach suitable to connections with normal mind, to a broad dimensional and anthropological view of mental disorders. It contrasts with the prevailing orientation in psychiatry toward the medical model of delimited diseases. Discussions of this order centered on symptom complexes gained special prominence in psychiatry between the early 20th century through Alfred Hoche and World War II through Carl Schneider. Their works, in addition to the work of other authors of that period, are considered. The late Kraepelin conceded the possibility that affective and schizophrenic manifestations do not represent disease processes but rather represent areas of human personality. Seeing mind or persons is a paradigmatic different perspective than seeing diseases. Re-emerge in this comprehensive or integrationist context the notion of unitary psychosis and philosophical questions as the mind-body problem; as background there was a process metaphysics. The possibility of human experience in a phenomenological sense is considered, and a matrix of symptom or function complexes is related to it. Examples of past unitary models of mental disorders with their neurophysiologic explanations are given, as well as an analogy to current biological aspects of the endogenous in chronobiology. The question or hypothesis arises whether mental symptom complexes are manifestations of mind constituents or functions that make human experience and mind possible. The present work is a conceptual analysis that indicates a positive answer to this question. The expectation is to emphasize the perspectives of investigation in psychopathology and sciences of mind fostered by this view of symptom complexes.