[HTML][HTML] The need for a proper definition of a “treatment refractoriness” in Tourette syndrome

M Porta, M Sassi, C Menghetti… - Frontiers in integrative …, 2011 - frontiersin.org
M Porta, M Sassi, C Menghetti, D Servello
Frontiers in integrative neuroscience, 2011frontiersin.org
Gilles de la Tourette syndrome (TS) is a complex neuropsychological disorder usually
characterized by both phonic and motor tics (Robertson, 2000; Porta et al., 2009a, b). The
prevalence of TS reaches 50 per 10,000 in the general population (Leckman, 2002).
Nevertheless, it is generally considered a “rare disease”: this is probably because of all the
patients affected with TS only a minority suffers from a severe clinical picture. The syndrome
demonstrates approximately a 10-fold higher incidence in children than in adults (Leckman …
Gilles de la Tourette syndrome (TS) is a complex neuropsychological disorder usually characterized by both phonic and motor tics (Robertson, 2000; Porta et al., 2009a, b). The prevalence of TS reaches 50 per 10,000 in the general population (Leckman, 2002). Nevertheless, it is generally considered a “rare disease”: this is probably because of all the patients affected with TS only a minority suffers from a severe clinical picture. The syndrome demonstrates approximately a 10-fold higher incidence in children than in adults (Leckman, 2002), with a prevalence of up to 299 per 10,000 in children of age 13–14 years (Mason, 1998), while the onset of tics occurs at a mean age of 5–7 years (Freeman, 2000; Leckman, 2002). Especially because of this last issue, patients who are diagnosed with TS are often socially impaired. Even though the various degrees of severity of clinical manifestations of TS in certain cases allow a normal social functioning, when there is a social impairment this is often caused by tic manifestations. Tics are usually perceived as inappropriate, mimicking complex behaviors often of sexual nature. On the other hand, there is a widespread lack of information about TS so that people are unprepared to deal with these patients or to consider their behaviors as part of a disease. Moreover, behavioral comorbidities such as attention deficit-hyperactivity disorder (ADHD), obsessive–compulsive disorder (OCD), and depression can further complicate the picture, and patients may be socially hindered because of both tics and behavioral abnormalities. Considering the complexity of such a variable clinical symptomatology in TS, the Tourette Syndrome Classification Study Group has introduced in their classification the subdivision between Definite Tourette Syndrome in which videotapes record the very clinical manifestations of the disease, and Tourette Syndrome by history, in which reliable caregivers (a family member or a close friend) documents and describes the clinical features of the disease (Tourette Study Group, 1993).
A further difficulty in defining the specific clinical picture for the patient is that tics may change during the course of illness and new tics can issue (Du, 2010; Liao, 2010; Worbe, 2010). The development of diagnostic instruments that try to bypass the timing of the different clinical manifestations, such as the Diagnostic Confidence Index (Robertson, 1999), demonstrate the need for a sound description of such an ever-changing clinical picture. As previously said, in a significant number of cases TS patients present also behavioral comorbidities. OCD is documented in up to 50% of patients in published experiences in Literature (Freeman, 2000; Robertson, 2000), while in our experience obsessive traits of personality can be demonstrated in up to 85% of patients. ADHD is present in up to 60% of patients in our series and in patients series presented in literature (Freeman, 2000; Robertson, 2000). Anxiety is documented in up to 40% of patients in literature data (Freeman, 2000; Robertson, 2000) while in our experience it presents in 50% of patients, while learning difficulties during school age present in 30% of TS patients both in our experience and in literature data (Freeman, 2000; Robertson, 2000). Some patients demonstrate a high grade of impairment in their social and working life (Neuner et al., 2009; Conelea, 2010; Du, 2010; Eddy et al., 2010, 2011). Considering that a significant percentage of these patients may show a certain degree of improvement up to a complete disappearance of all clinical manifestations by the major age, deep brain stimulation (DBS) has classically been indicated for those patients failing to show a …
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