Complex phonic tic and disinhibition in Tourette syndrome: case report Tique fônico complexo e desinibição em síndrome de Tourette: relato de caso

Tourette syndrome (TS) is a neuropsychiatric disorder characterized by a combination of multiple motor tics and at least one phonic tic. TS patients often have associated behavioral abnormalities such as obsessive compulsive disorder, attention deficit and hyperactive disorder. Coprolalia, defined as emission of obscenities or swearing, is one type of complex vocal tic, present in 8% to 26% of patients. The pathophysiology of coprolalia and other complex phonic tics remains ill-defined. We report a patient whose complex phonic tic was characterized by repetitively saying "breast cancer" on seeing the son of aunt who suffered from this condition. The patient was unable to suppress the tic and did not meet criteria for obsessive compulsive disorder. The phenomenology herein described supports the theory that complex phonic tics result from disinhibition of the loop connecting the basal ganglia with the limbic cortex.<br>Síndrome de Tourette (ST) é uma condição neuropsiquiátrica caracterizada pela combinação de múltiplos tiques motores e ao menos um tique fônico. Freqüentemente tiques se associam a distúrbios de comportamento como transtorno obsessivo compulsivo e déficit de atenção e hiperatividade. Coprolalia, definida como emissão de obscenidades, é um tique fônico complexo presente em 8% a 26% dos pacientes com ST. A fisiopatologia de tiques complexos permanece mal compreendida. Nós descrevemos um paciente com tique fônico complexo caracterizado por dizer repetidamente "câncer de mama" ao encontrar primo cuja mãe sofria dessa doença. O paciente não conseguia suprimir o tique e não apresenta transtorno obsessivo compulsivo. A fenomenologia desse paciente sustenta a teoria de que tiques fônicos complexos resultam de desinibição da alça límbica dos núcleos da base

Onset and progression of primary torsion dystonia in sporadic and familial cases

Four hundred and sixty records of patients with primary torsion dystonia (296 women and 164 men) were evaluated. The mean age at disease onset was 48.3 +/- 17.7 years; 13 patients carried the DYT1 CAG deletion. The distribution of age at onset was represented by a bi-modal curve, with a nadir at 21 year separating early onset from late onset cases. In 15.9% of cases there was a positive family history of dystonia. Cranial, cervical or lower limb onset was more common amongst women (M:F ratios were 1:2.7, 1:1.9, and 1:3); by contrast, onset in the upper limb was more common in men (M:F ratio 2.2:1). As expected, disease progression was more pronounced in cases with early onset; it was reckoned that onset at or above 32 years was associated with a negligible likelihood to progress to a generalized form. The mean age at onset of familial cases was 44.8 +/- 11.2 years, significantly lower than the mean age at onset of sporadic cases (53.5 +/- 13.4 years). Familial cases were characterized by more sites involved throughout disease course. Familial cases had a higher tendency to progress to a segmental or generalized form than sporadic cases

Supplementary Material for: The Association of Poor Academic Performance with Tic Disorders: A Longitudinal, Mainstream School-Based Population Study

<p><b><i>Background:</i></b> Little is known about the academic performance of students with tic disorders (TD). Our aim was to investigate the association of TD and poor academic performance over time. <b><i>Methods:</i></b> Longitudinal, observational study of mainstream schoolchildren comparing grade retention (GR) and learning disorders (LD) in students with vs. without TD between 2010 and 2014. Students with vs. without TD based on DSM-IV-TR criteria, or with vs. without GR and LD were compared in terms of comorbidities, school, and environmental characteristics. The association of TD with GR was analyzed using hazard ratios (HRs) with 95% CIs, and with LD using logistic regression analysis [Odds ratio (OR)]. <b><i>Results:</i></b> Two hundred fifty-eight students were included (mean age 14.0 ± 1.71 years, 143 [55.4%] males). The incident rate for TD and GR was 2.6 and 3.3 per 100 persons-year, respectively. LD found in 21 (9.9%) students was associated with TD (OR 11.62, 95% CI 2.21-60.90, <i>p</i> = 0.004), and attention deficit hyperactivity disorder (ADHD; OR 6.63, 95% CI 1.55-28.37, <i>p</i> = 0.01). Low psychological support (HRs 12.79, 95% CI 3.39-48.17) and low sport participation (HRs 6.41, 95% CI 1.54-26.78) were risk factors for GR. <b><i>Conclusions:</i></b> TD was associated with academic difficulties, namely, LD in conjunction with ADHD but not GR. The diagnosis of TD and comorbidities, and the initiation of proper treatment could have a favorable impact on school performance, and consequently on social development.</p