Snapshot A 6-year-old boy is brought to the pediatrician by his mother due to noticing him "acting strange." She reports that the patient would jerk his head rapidly and sniff a considerable amount of times per day for over a year. The jerking and sniffing episodes would begin and end abruptly, and the frequency would increase during periods of increased stress. She notices the patient trying to suppress these sniffing episodes and jerking movements, and appears relieved after they occur. Neurologic exam is normal besides the neck jerking and sniffing. Introduction Clinical definition a chronic neurologic disorder that manifests with motor and vocal tics Epidemiology Incidence variable Demographics more common in males (4:1) mean age of tic onset is approximately 5.6 years of age ETIOLOGY Pathogenesis the mechanism of disease is unclear; however, it is believed to be due to a complex interaction between genetic, environmental, and social factors resulting in an abnormality in the mesolimbic spinal system Genetics inheritance pattern unclear mutations there are several genes that may be associated with Tourette syndrome (TS) Associated conditions approximately 90% of patients have a comorbid psychiatric disorder such as attention deficit hyperactivity disorder (~60% of cases) obsessive-compulsive disorder (~27% of cases) Presentation Symptoms and physical exam tics (hallmark of TS) have a sudden onset and of brief duration that can be motor (e.g., eye blinking, body gyrations, and head jerking) vocal (e.g., simple noises, coprolalia, and palilalia) waxing and waning nature urge before the tic that is relieved after the tic neurologic exam is typically normal besides for tics Differential Transient motor and phonic tics which lasts < 1 year Myoclonus Dystonia Chorea Stereotypies Spasmus nutans key distinguishing factor congenital horizontal, vertical, or rotary nystagmus compensatory head bobbing and torticollis often confused with a behavioral disorder/Tourette syndroe DIAGNOSIS Diagnostic criteria according to the DSM V both multiple motor and ≥ 1 vocal tic this does not necessarily have to occur concurrently tics persist ≥ 1 year since first tic tics may wax and wane in frequency tic begin at < 18 years of age the tics are not due to other causes (e.g., substance use and medical conditions such as Huntington's disease) Treatment Conservative behavioral therapy indication can be considered in patients with TS who have moderate tics, tics that cause impairment, or when comorbid psychiatric conditions that respond to behavioral therapy are present modalities habit reversal training Medical tetrabenazine indication used for the pharmacologic treatment of TS α-2 adrenergic agonists medications clonidine guanfacine indication used for the pharmacologic treatment of TS antipsychotics medications risperidone olanzapine quetiapine ziprasidone aripiprazole haloperidol pimozide indication used for the pharmacologic treatment of TS Operative deep brain stimulation indication can be considered in patients with TS who are refractory to optimal medical therapy; however, larger clinical trial are needed Complications A reduction in quality of life May develop depression Prognosis Tics typically decline during adolescence and may resolve around 18 years of age (~50% of children) Tics may persist into adulthood but their severity can decline over time