Tourette syndrome (TS) is a complex neurodevelopmental disorder characterized by multiple motor and vocal tics, which commonly presents with multiple behavioral problems, including co-morbid attention-deficit and hyperactivity disorder and obsessive-compulsive disorder. Both tics and co-morbid conditions have been shown to potentially affect patients’ health-related quality of life. While TS typically presents in childhood, its manifestations peak in severity during adolescence, a critical period in which affected individuals are exposed to potential stigma from peers. Physical and behavioral manifestations can also contribute to stigma, which subsequently leads to poorer health outcomes, discrimination, and a reduced willingness to seek help. The available evidence suggests that young patients with TS can experience reduced social acceptance from peers and difficulties establishing relationships. There is also evidence that some health care professionals share the unhelpful belief that young patients with TS should be disciplined in order to correct their disruptive behavior, based on the erroneous assumption that tics can be consciously controlled. Studies focussed on self-perception in patients with TS have yielded inconsistent results, with some studies showing problems in the domains of self-concept and self-esteem. Feelings of isolation, loneliness, and experiences of bullying have been reported more consistently. Interventions are required to reduce misconceptions about the condition and thus reduce stigma through targeted education and behavioral interventions. A multi-faceted approach that focuses on educating children, adults, and educators about TS would be beneficial to help alleviate stigma. This can be combined with self-advocacy and tailored psychological therapies for young patients with TS. The present paper reviews the current literature on stigma and self-perception in adolescents with TS in order to inform clinical decisions about management strategies and possible interventions to improve health-related quality of life.
Motor and vocal tics have long been recognised as the core features of Tourette syndrome (TS). However, patients' first-person accounts have consistently reported that these involuntary motor manifestations have specific sensory correlates. These sensory symptoms are often described as feelings of mounting inner tension ("premonitory urges") and are transiently relieved by tic expression. Multimodal hypersensitivity to external stimuli, perceived as triggers and/or exacerbating factors for specific tic symptoms, is also commonly reported by patients with TS. This article focuses on the rapidly expanding literature on the clinical and neurobiological aspects of the premonitory urge and multimodal hypersensitivity in patients with TS, with particular attention to pathophysiological mechanisms and possible treatment implications. These findings suggest that TS is a neurobehavioural condition characterised by intrinsic perceptual abnormalities involving the insula and sensorimotor areas, in addition to basal ganglia dysfunction. Further research will clarify the role of sensory symptoms in TS, as well as the effects of external sensory input on underlying motor abnormalities.
ObjectiveThe variation in reported prevalence of growth hormone deficiency (GHD) post subarachnoid haemorrhage (SAH) is mainly due to methodological heterogeneity. We report on the prevalence of GHD in a large cohort of patients following SAH, when dynamic and confirmatory pituitary hormone testing methods are systematically employed.DesignIn this cross-sectional study, pituitary function was assessed in 100 patients following SAH. Baseline pituitary hormonal profile measurement and glucagon stimulation testing (GST) was carried out in all patients. Isolated GHD was confirmed with an Arginine stimulation test and ACTH deficiency was confirmed with a short synacthen test.ResultsThe prevalence of hypopituitarism in our cohort was 19% and the prevalence of GHD was 14%. There was no association between GHD and the clinical or radiological severity of SAH at presentation, treatment modality, age, or occurrence of vasospasm. There were statistically significant differences in terms of Glasgow Outcome Scale (GOS; p = 0.03) between patients diagnosed with GHD and those without. Significant inverse correlations between GH peak on GST with body mass index (BMI) and waist hip ratio (WHR) was also noted (p < 0.0001 and p < 0.0001 respectively).ConclusionUsing the current testing protocol, the prevalence of GHD detected in our cohort was 14%. It is unclear if the BMI and WHR difference observed is truly due to GHD or confounded by the endocrine tests used in this protocol. There is possibly an association between the development of GHD and worse GOS score. Routine endocrine screening of all SAH survivors with dynamic tests is time consuming and may subject many patients to unnecessary side-effects. Furthermore the degree of clinical benefit derived from growth hormone replacement in this patient group, remains unclear. Increased understanding of the most appropriate testing methodology in this patient group and more importantly which SAH survivors would derive most benefit from GHD screening is required.
Although the majority of people with epilepsy have a good prognosis and their seizures can be well controlled with pharmacotherapy, up to one-third of patients can develop drug-resistant epilepsy, especially those patients with partial seizures. This unmet need has driven considerable efforts over the last few decades aimed at developing and testing newer antiepileptic agents to improve seizure control. One of the most promising antiepileptic drugs of the new generation is zonisamide, a benzisoxazole derivative chemically unrelated to other anticonvulsant agents. In this article, the authors present the results of a systematic literature review summarizing the current evidence on the efficacy and tolerability of zonisamide for the treatment of partial seizures. Of particular interest within this updated review are the recent data on the use of zonisamide as monotherapy, as they might open new therapeutic avenues.
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