Summary
Purpose: To clarify the role of epilepsy and genetic background in determining the cognitive outcome of patients with Dravet syndrome.
Methods: In this retrospective study, we reviewed the clinical history and cognitive development of 26 patients who had been followed with standardized evaluations since seizure onset. The cognitive outcome was quantified as differential general quotient (dGQ) between ages 12 and 60 months. Statistical analysis correlated the dGQ with genotype and epilepsy course.
Key Findings: Epilepsy started at the mean age of 5.6 months. All patients experienced prolonged convulsive seizures, whereas absences and myoclonus were reported in 17. Cognitive outcome was poor in almost all patients; the mean dGQ was 33 points, varying from 6–77 points. The analysis of individual cognitive profiles identified seven patients in whom the dGQ was <20 points; the main clinical characteristic in this subset of patients was lack of early absences and myoclonus. The statistical analysis of the whole series failed to reveal significant differences in cognitive outcome with regard to the presence of SCN1A mutations and their type. In particular, mutation‐carrier patients with the best cognitive outcome harbored either missense or truncating mutations.
Significance: Dravet syndrome encompasses different epileptic and cognitive phenotypes that probably result from both genetic and epigenetic factors. In this series, early appearance of myoclonus and absences was associated with the worst cognitive outcome.
Aims: The aim of this study was to investigate psychological distress, anger and alexithymia in a group of patients affected by myofascial pain (MP) in the facial region.Methods: 45 MP patients [mean (SD) age: 38.9 (11.6)] and 45 female healthy controls [mean (SD) age: 37.8 (13.7)] were assessed medically and psychologically. The medically evaluation consisted of muscle palpation of the pericranial and cervical muscles. The psychological evaluation included the assessment of depression (Beck Depression Inventory—short form), anxiety [State-Trait Anxiety Inventory Form Y (STAI-Y)], emotional distress [Distress Thermometer (DT)], anger [State-Trait Anger Expression Inventory—2 (STAXI-2)], and alexithymia [Toronto Alexithymia Scale (TAS)].Results: the MP patients showed significantly higher scores in the depression, anxiety and emotional distress inventories. With regard to anger, only the Anger Expression-In scale showed a significant difference between the groups, with higher scores for the MP patients. In addition, the MP patients showed significantly higher alexithymic scores, in particular in the Difficulty in identifying feelings (F1) subscale of the TAS-20. Alexithymia was positively correlated with the Anger Expression-In scale. Both anger and alexithymia showed significant positive correlations with anxiety scores, but only anger was positively correlated with depression.Conclusion: A higher prevalence of depressive and anxiety symptoms associated with a higher prevalence of alexithymia and expression-in modality to cope with anger was found in the MP patients. Because the presence of such psychological aspects could contribute to generate or exacerbate the suffering of these patients, our results highlight the need to include accurate investigation of psychological aspects in MP patients in normal clinical practice in order to allow clinicians to carry out more efficacious management and treatment strategies.
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