User:Markworthen/Tourette's syndrome citations

1980s
Meyer, Bernard C., and Diane Rose. "Single Case Study: Remarks on the Etiology of Gilles de la Tourette's Syndrome." Journal of Nervous and Mental Disease 174, no. 7 (1986): 387–396. | PMID: 3459809

Abstract Utilizing a case of Tourette's syndrome as an illustration, this paper seeks to refine the problem of causality in medical illness. In contrast to numerous examples reported in the literature, the patient presented in this communication, a 26-year-old man afflicted with tics, convulsive movements, intractable vomiting, and coprolalia, failed to respond favorably to medication, although he showed marked improvement in the course of psychotherapy. Despite rather transparent psychodynamic connections between his life history on the one hand and the nature and vicissitudes of his symptomatology on the other, it cannot be concluded that the psychological factors alone can account for the clinical picture; at best they may be regarded as contributory, as opposed to necessary or sufficient causes, a distinction that may be applied to other conditions as well. This report includes a review of some of the literature on Tourette's syndrome, with special emphasis on the case of Dr. Samuel Johnson, who in retrospect appears to have been a likely victim of that unfortunate malady.

1990s
McMahon, William M., Ben M. van de Wetering, Francis Filloux, Kyle Betit, Hilary Coon, and Mark Leppert. "Bilineal Transmission and Phenotypic Variation of Tourette's Disorder in a Large Pedigree." Journal of the American Academy of Child & Adolescent Psychiatry 35, no. 5 (1996): 672-680. PMID: 8935215.

ABSTRACT Objective Variability in the clinical phenotype of Tourette's disorder (TD) was assessed in a single large family, with a focus on the influence of bilineal transmission.

Method Tics, obsessive-compulsive symptoms, and attention-deficit symptoms were evaluated through interview and standardized checklists for 175 descendants and 16 spouses who married into a single four-generation pedigree.

Results Some form of tic disorder was diagnosed in 67% of descendants and 44% of married-in spouses. TD was found in 36% of descendants and in 31 % of married-in spouses. Impairment was minimal in most cases, but age at onset and location and number of tics were typical of TD described in clinic samples. Obsessive-compulsive symptoms were found in 38% of descendants and 62% of those with current TD, but obsessive-compulsive disorder was found in only four individuals. Attention-deficit hyperactivity disorder occurred in 25% of children. Multivariate analysis indicated that offspring of two parents with tic disorders manifested significantly more lifetime tics, more severe categories of tic disorders, and an earlier age at onset for TD compared with offspring of one or no affected parents.

Conclusions TD in this family is most often a mild disorder but otherwise similar to published clinical cases. Increased morbidity is significantly associated with bilineality. The frequency and impact of bilineality raise questions about possible assortative mating, the prevalence of TD, and assumed mechanisms of transmission and etiology.

2010s
Steinberg T, Shmuel-Baruch S, Horesh N, Apter A. Life events and Tourette syndrome. Compr Psychiatry. 2013 Jul;54(5):467-73. Epub 2012 Dec 6. PMID: 23219489

Abstract Introduction: Tourette syndrome (TS) is a neuropsychiatric developmental disorder characterized by the presence of multiple motor tics and one or more vocal tics. Although TS is primarily biological in origin, stress-diatheses interactions most probably play a role in the course of the illness. The precise influence of the environment on this basically biological disorder is difficult to ascertain, particularly when TS is complicated by comorbidities. Among the many questions that remain unresolved are the differential impact of positive and negative events and specific subtypes of events, and the importance of major crucial events relative to minor daily ones to tic severity.

Objectives: To examine the relationships between life events, tic severity and comorbid disorders in Tourette Syndrome (TS), including OCD, ADHD, anxiety, depression and rage attacks. Life events were classified by quantity, quality (positive or negative) and classification types of events (family, friends etc.).

Subjects: Sixty patients aged 7-17 years with Tourette syndrome or a chronic tic disorder were recruited from Psychological Medicine Clinic in Schneider Children's Medical Center of Israel.

Instruments: Yale Global Tic Severity Scale; Children's Yale Brown Obsessive Compulsive Scale; Life Experiences Survey; Brief Adolescent Life Events Scale; Screen for Child Anxiety Related Emotional Disorders; Child Depression Inventory/Beck Depression Inventory; ADHD Rating Scale IV; Overt Aggression Scale.

Results: Regarding tics and minor life events, there was a weak but significant correlation between severity of motor tics and the quantity of negative events. No significant correlation was found between tic severity and quantity of positive events. Analysis of the BALES categories yielded a significant direct correlation between severity of vocal tics and quantity of negative events involving friends. Regarding comorbidities and minor life events, highly significant correlations were found with depression and anxiety. Regarding tics and major life events, significant correlation was found between the quantity of major life events and the severity of motor tics, but not vocal tics. Regarding comorbidities and major life events, significant correlation was found between the severity of compulsions, ADHD, and aggression and the subjects' personal evaluation of the effect of negative major life events on their lives.

Conclusions: Minor life events appear to be correlated with tic severity and comorbidities in children and adolescents with Tourette syndrome. The lack of an association between major life events and tic severity further emphasizes the salient impact of minor life events that occur in temporal proximity to the assessment of tic severity. Clinically, the results match our impression from patient narratives wherein they "blamed" the exacerbations in tics on social interactions. The high correlation between negative life events and depression, anxiety and compulsions symptoms, were reported also in previous studies. In conclusion, These findings may have clinical implications for planning supportive psychotherapy or cognitive behavioral therapy for this patient population.

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Horesh N, Shmuel-Baruch S, Farbstein D, Ruhrman D, Milshtein NBA, Fennig S, Apter A, Steinberg T. Major and minor life events, personality and psychopathology in children with tourette syndrome. Psychiatry Res. 2018 Feb;260:1-9. doi: 10.1016/j.psychres.2017.11.016. Epub 2017 Nov 8. PMID: 29153958.

Abstract Environmental, psychological, and biological interactions underlie many psychopathologies. Tourette's Syndrome (TS) has an obvious biological substrate but environmental factors and personality play substantial roles in its expression. We aimed to study the interrelationships between stressful life events, personality traits, tics, and comorbid disorders in children with TS. To this end, 132 children with TS and 49 healthy controls were recruited for the study. Major life events in the 12-months prior to testing and minor life events in the month prior to testing were retrospectively assessed using the Life Experiences Survey (LES) and the Brief Adolescent Life Events Scale (BALES), respectively. Personality was assessed with the Junior Temperament and Character Inventory (JTCI). Tics, obsessive compulsive symptoms, attention deficit and hyperactivity symptoms, anxiety, depression and aggression were assessed by self-report questionnaires and semi-structured interviews. We found that major life events correlated with the severity of tics expression and complexity, and comorbid psychopathology. Minor life events correlated with more severe symptomatology. High levels of harm avoidance were related to more obsessions, anxiety, and depression whereas high levels of self-directedness were protective. To conclude, TS expression in childhood should be understood as the result of an interaction between biological, personality and environmental factors.

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Ferreira BR, Pio-Abreu JL, Januário C. Tourette's syndrome and associated disorders: a systematic review. Trends Psychiatry Psychother. 2014;36(3):123–133. doi:10.1590/2237-6089-2014-1003

Abstract Objective: To compile data on Tourette's syndrome (TS), tics and associated disorders.

Methods: A systematic review of the literature was conducted using the 5S levels of organization of healthcare research evidence (systems, summaries, synopses, syntheses, studies), based on the model described by Haynes. The search keywords were Tourette, tics and comorbidity, which were cross-referenced. Studies provided by publishers and articles being processed on July 31, 2013, were also included.

Results: Of all studies retrieved during the search, 64 were selected because they analyzed the epidemiology, clinical features and etiopathogenesis of TS and its comorbidities. TS is classified as a hyperkinetic movement disorder, and at least 90% of the patients have neuropsychiatric comorbidities, of which attention deficit hyperactivity and obsessive-compulsive disorders are the most common. The syndrome is clinically heterogeneous and has been associated with a dysfunction of cortico-striatal-thalamic-cortical circuits involving various neurotransmitters. Although its genetic etiology has been widely studied, other factors may be important to understand this syndrome and its associated disorders.

Conclusions: TS is a neurodevelopmental disorder that results from the impact of stress factors on a vulnerable biological substrate during the critical periods of neurodevelopment. The study of TS and its comorbidities may contribute, at different levels, to the understanding of several neuropsychiatric disorders of clinical and therapeutic relevance.

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Pringsheim T, Holler-Managan Y, Okun MS, Jankovic J, Piacentini J, Cavanna AE, Martino D, Müller-Vahl K, Woods DW, Robinson M, Jarvie E, Roessner V, Oskoui M. Comprehensive systematic review summary: Treatment of tics in people with Tourette syndrome and chronic tic disorders. Neurology. 2019 May 7;92(19):907-915. doi: 10.1212/WNL.0000000000007467. Erratum in: Neurology. 2019 Aug 27;93(9):415. PMID: 31061209; PMCID: PMC6537130.

Abstract Objective: To systematically evaluate the efficacy of treatments for tics and the risks associated with their use.

Methods: This project followed the methodologies outlined in the 2011 edition of the American Academy of Neurology's guideline development process manual. We included systematic reviews and randomized controlled trials on the treatment of tics that included at least 20 participants (10 participants if a crossover trial), except for neurostimulation trials, for which no minimum sample size was required. To obtain additional information on drug safety, we included cohort studies or case series that specifically evaluated adverse drug effects in individuals with tics.

Results: There was high confidence that the Comprehensive Behavioral Intervention for Tics was more likely than psychoeducation and supportive therapy to reduce tics. There was moderate confidence that haloperidol, risperidone, aripiprazole, tiapride, clonidine, onabotulinumtoxinA injections, 5-ling granule, Ningdong granule, and deep brain stimulation of the globus pallidus were probably more likely than placebo to reduce tics. There was low confidence that pimozide, ziprasidone, metoclopramide, guanfacine, topiramate, and tetrahydrocannabinol were possibly more likely than placebo to reduce tics. Evidence of harm associated with various treatments was also demonstrated, including weight gain, drug-induced movement disorders, elevated prolactin levels, sedation, and effects on heart rate, blood pressure, and ECGs.

Conclusions: There is evidence to support the efficacy of various medical, behavioral, and neurostimulation interventions for the treatment of tics. Both the efficacy and harms associated with interventions must be considered in making treatment recommendations.

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Robertson MM, Eapen V, Singer HS, Martino D, Scharf JM, Paschou P, Roessner V, Woods DW, Hariz M, Mathews CA, Črnčec R, Leckman JF. Gilles de la Tourette syndrome. Nat Rev Dis Primers. 2017 Feb 2;3:16097. doi: 10.1038/nrdp.2016.97. PMID: 28150698.

Abstract Gilles de la Tourette syndrome (GTS) is a childhood-onset neurodevelopmental disorder that is characterized by several motor and phonic tics. Tics usually develop before 10 years of age, exhibit a waxing and waning course and typically improve with increasing age. A prevalence of approximately 1% is estimated in children and adolescents. The condition can result in considerable social stigma and poor quality of life, especially when tics are severe (for example, with coprolalia (swearing tics) and self-injurious behaviours) or when GTS is accompanied by attention-deficit/hyperactivity disorder, obsessive-compulsive disorder or another neuropsychiatric disorder. The aetiology is complex and multifactorial. GTS is considered to be polygenic, involving multiple common risk variants combined with rare, inherited or de novo mutations. These as well as non-genetic factors (such as perinatal events and immunological factors) are likely to contribute to the heterogeneity of the clinical phenotype, the structural and functional brain anomalies and the neural circuitry involvement. Management usually includes psychoeducation and reassurance, behavioural methods, pharmacotherapy and, rarely, functional neurosurgery. Future research that integrates clinical and neurobiological data, including neuroimaging and genetics, is expected to reveal the pathogenesis of GTS at the neural circuit level, which may lead to targeted interventions.