ABSTRACT
Hereditary diffuse leukencephalopathy with spheroids (HDLS) is a rare progressive form of leukodystrophy with variable clinical presentation and little known pathophysiology. Characteristic pathological features at brain biopsy or postmortem can support the diagnosis. The genetic basis of HDLS was elusive until 2011 when mutations in the colony-stimulating factor 1 receptor (CSF1R) gene were identified as the cause. Mutations in the CSF1R gene had previously been associated with tumor development, including hematological malignancies. We report three patients with HDLS who carried missense mutations in the CSF1R gene, two of them novel (p.L582P and p.V383L). Particularly in younger patients with rapid cognitive decline and/or leukencephalopathy of unknown origin, HDLS appears to be more common than previously thought. Various compounds acting on the CSF1 receptor are available from the treatment of hemato-oncological malignancies, so novel therapeutic approaches could be developed for this devastating condition.
Subject(s)
Genetic Carrier Screening , Mutation, Missense/genetics , Receptor, Macrophage Colony-Stimulating Factor/genetics , Adult , Axons/pathology , Biopsy , Brain/pathology , Female , Fluorodeoxyglucose F18 , Follow-Up Studies , Frontal Lobe/pathology , Genetic Testing , Humans , Leukoencephalopathies/diagnosis , Leukoencephalopathies/genetics , Magnetic Resonance Imaging , Male , Microglia , Middle Aged , Multimodal Imaging , Nerve Fibers, Myelinated/pathology , Neuropsychological Tests/statistics & numerical data , Phenotype , Positron-Emission Tomography , Psychometrics , Spheroids, Cellular/pathology , Stereotaxic Techniques , Tomography, X-Ray ComputedSubject(s)
Insomnia, Fatal Familial/complications , Insomnia, Fatal Familial/pathology , Magnetic Resonance Imaging/methods , Posterior Leukoencephalopathy Syndrome/complications , Posterior Leukoencephalopathy Syndrome/pathology , Adult , Antihypertensive Agents/therapeutic use , Female , Humans , Insomnia, Fatal Familial/drug therapy , Posterior Leukoencephalopathy Syndrome/drug therapy , Treatment OutcomeABSTRACT
BACKGROUND: The aim of the study was to examine whether the efficacy of psychoeducation in patients with schizophrenia is dependent on their cognitive performance and if a preceding cognitive training can enhance the therapeutic effects of psychoeducation. PATIENTS AND METHODS: A total of 116 inpatients were randomly assigned to either a standardized cognitive training (COGPACK) or to routine occupational therapy, followed by a psychoeducational group program of 8 sessions within 4 weeks for all study patients. The effects of cognitive training and psychoeducation were assessed directly afterwards and in a follow-up after 9 months. RESULTS: The patient knowledge and compliance improved. Neurocognition and especially memory acquisition significantly predicted illness knowledge after psychoeducation, whereas psychopathology did not. No differential effects of the COGPACK training were found. After 9 months 75% of the patients showed a very good compliance and the readmission rate was 18%. The results were comparable under both study conditions. CONCLUSION: Besides baseline illness knowledge neurocognition was the only significant predictor for illness knowledge after psychoeducation. Patients with cognitive deficits can profit from psychoeducation in the long run as well. In future it should be examined whether a modified cognitive training program could achieve a faster improvement of the illness knowledge.
Subject(s)
Cognition Disorders/therapy , Neuropsychological Tests/statistics & numerical data , Patient Education as Topic/methods , Psychotherapy/methods , Schizophrenia/therapy , Schizophrenic Psychology , Therapy, Computer-Assisted/methods , Awareness , Cognition Disorders/diagnosis , Cognition Disorders/epidemiology , Cognition Disorders/psychology , Combined Modality Therapy , Comorbidity , Humans , Patient Compliance/psychology , Patient Compliance/statistics & numerical data , Patient Readmission/statistics & numerical data , Prognosis , Psychiatric Status Rating Scales/statistics & numerical data , Psychometrics , Schizophrenia/diagnosis , Schizophrenia/epidemiology , Treatment OutcomeABSTRACT
A young patient with FFI was started on agomelatine 25 mg to medicate nocturnal insomnia. Under this treatment sleep efficiency was improved, slow wave sleep was high and awakenings during sleep period time were far less than before. Clinically the patient was less restless during nighttime.
Subject(s)
Acetamides/therapeutic use , Hypnotics and Sedatives/therapeutic use , Insomnia, Fatal Familial/drug therapy , Adult , Epilepsy/etiology , Fatal Outcome , Female , Humans , Insomnia, Fatal Familial/physiopathology , Severity of Illness Index , Sleep Stages/drug effects , Treatment OutcomeABSTRACT
BACKGROUND: Many patients with schizophrenia exhibit neurocognitive impairments, namely, in attentional, mnestic and executive functions. While these deficits limit psychosocial rehabilitation, their effect on psychoeducation is unknown. Within the framework of the longitudinal Munich Cognitive Determinants of Psychoeducation and Information in Schizophrenic Psychoses (COGPIP) study, we examined: (a) whether illness knowledge after psychoeducation could be predicted more precisely from the neurocognitive than from the psychopathological status of the patients; (b) which neurocognitive domains are best predictors. METHOD: A total of 116 in-patients with schizophrenic or schizoaffective disorders were randomized to a neurocognitive training or control condition (2 weeks) followed by a manualized psychoeducational group programme (4 weeks) and then observed over a 9-month follow-up. Repeated measurements included - among others - the Positive and Negative Syndrome Scale and a comprehensive neuropsychological test battery from which normative T scores were used to calculate one global and five domain-specific neurocognitive composite scores. Illness knowledge was measured by a questionnaire (WFB-52) tailored to the psychoeducational programme. RESULTS: Multiple linear regression analyses showed that, apart from baseline illness knowledge, neurocognition significantly predicted knowledge outcome as well as knowledge gain (measured by reliable change indices) after psychoeducation. This was not true for psychopathology. Among the domain-specific neurocognitive composite scores, only memory acquisition was a significant predictor of knowledge outcome and gain. CONCLUSIONS: Neurocognition, not psychopathology, is a significant predictor of illness knowledge after psychoeducation in schizophrenia. This finding should guide efforts to tailor psychoeducational interventions more closely to the patient's needs and resources.
Subject(s)
Patient Education as Topic , Schizophrenic Psychology , Adult , Cognition , Female , Health Knowledge, Attitudes, Practice , Humans , Linear Models , Male , Neuropsychological Tests , Schizophrenia/therapy , Treatment OutcomeABSTRACT
A 38-year-old female suffered from adrenogenital syndrome with 21-hydroxylase deficiency requiring a corticosteroid substitution. The virilized patient claims to have discontinued treatment with corticosteroids since the age of 15. In the 12 months prior to admission, the patient experienced addisonian crises and repeated decompensation with depressive-suicidal symptoms. Due to the second suicide attempt within a short period, the patient underwent psychiatric treatment presenting an organic depressive syndrome. Under sufficient medication including corticosteroids, antidepressants, and mood stabilizing therapy, the psychopathologic findings improved impressively. Noncompliance after discharge led to a relapse and another suicide attempt, which remitted promptly after adequate therapy.
