Journal of Pediatric Neurology 7 (2009) 293296 DOI 10.

3233/JPN-2009-0304 IOS Press

293

Case Report

Childhood-onset multiple self-injurious behaviors in Gilles de la Tourette syndrome

Andrea E. Cavanna a,b,, Stefano Cavanna c, Luca Berteroc , Francesco Monaco b and Hugo D. Critchleyd
a

Institute of Neurology, Queen Square, London, UK Department of Neurology, Amedeo Avogadro University, Novara, Italy c University of Turin Medical School, Turin, Italy d Department of Psychiatry, Brighton and Sussex Medical School, Brighton, UK
b

Received 26 August 2008 Revised 24 September 2008 Accepted 23 November 2008

Abstract. Self injurious behavior, i.e. the deliberate, non-accidental, repetitive iniction of self harm, has been reported in a wide range of neuropsychiatric conditions. Clinical and epidemiological studies have shown that self-injurious behavior can occur in up to one third of patients with Gilles de la Tourette syndrome, a neurodevelopmental disorder, characterized by the presence of multiple motor tics and at least one vocal/phonic tic. This paper describes the case of a patient diagnosed with Gilles de la Tourette syndrome who presented with severe multiple self injurious behaviors since early childhood. On physical examination, we documented a few self-injurious behavior signs including scars in the forehead resulting from repetitive head-banging and bald patches on the scalp due to trichotillomania. Characteristically, self-injurious behaviors were distressing and resistant to treatments (both pharmacotherapy and cognitive behavioral therapy), and were associated with comorbid obsessive-compulsive disorder. This case illustrates the complex nature and difcult management of severe self-injurious behavior in the context of Gilles de la Tourette syndrome and obsessive-compulsive disorder. Keywords: Gilles de la tourette syndrome, self-injurious behavior, obsessive-compulsive disorder, self-mutilation

1. Introduction Self-injurious behavior (SIB), variously referred to as self mutilation, self injury, and self destructive behavior, is the deliberate, non-accidental, repetitive iniction of self harm, and has been reported in a variety of psychiatric conditions of which one of the most well known is the Lesch-Nyhan syndrome [1]. However, SIB also occurs with some frequency in move Correspondence:

Andrea E. Cavanna, MD, Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London WC1N3BG, UK. E-mail: A.Cavanna@ion.ucl.ac.uk.

ment disorders, most notably Gilles de la Tourette syndrome (GTS), a neurodevelopmental disorder characterized by the presence of multiple motor tics and at least one vocal/phonic tic, and usually associated with psychiatric comorbidities [2]. In his original paper in 1885, Georges Gilles de la Tourette described two patients who injured themselves. A 24-year-old man had characteristic movements of his head and neck: his mouth opens wide; when it closes again one can hear the teeth of both jaws gnashing violently. Quite often his tongue is caught between them and abruptly seized and lacerated; it is moreover all covered in scars: on one occasion a piece was completely transected and detached; there is still on its undersurface a wound of one centimeter wide and fairly deep. His fth patient,

1304-2580/09/$17.00 2009 IOS Press and the authors. All rights reserved

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A.E. Cavanna et al. / Self-injurious behaviors in GTS

a 14-year-old boy, sometimes opened and shut his mouth with some force and abruptness so that his lower lip was bitten so as to draw blood [3]. Moreover, it has been speculated that British lexicographer Dr. Samuel Johnson was aficted with GTS [4] and indeed, he exhibited mild self-injurious behavior such as hitting and rubbing his legs, and cutting his ngernails too deeply. We describe the case of a patient diagnosed with GTS according to current DSM-IV-TR criteria (presence of at least two motor tics and one phonic tic for at least one year with onset before the age of 18) [5] who presented with severe multiple SIBs since early childhood.

2. Case report A.B. is a 29-year-old unemployed single man who was rst referred to the Tourette Clinic, National Hospital for Neurology and Neurosurgery, London, United Kingdom, at the age of 16 years, after a 13-year history of tics. On neuropsychiatric examination, we documented a total of 10 motor tics (namely eye blinking, frowning, teeth grinding, facial grimacing, spitting, blowing, head nodding, shoulder shrugging, kicking, squatting) and ve vocal tics (snifng, noisy breathing, coughing, and throat clearing). Motor tics started at the age of three, whilst the rst phonic tic was heard at the age of 7 year. Since then, both motor and phonic tics increased in number and frequency. He scored 39/50 on the Yale Global Tic Severity Scale, indicative of marked severity. In addition to multiple tics, he displayed frequent coprolalia and copropraxia. Characteristically, his symptoms were preceded by premonitory urges and uctuated in severity over time; he was able to suppress them for brief periods of time. Since early childhood, he also experienced multiple and distressing SIBs, which he was not able to voluntarily suppress. Physical examination revealed scars on his forehead, indicative of compulsive head banging, and a bald patch at the vertex of the scalp, suggestive of trichotillomania (Fig. 1). These SIBs were particularly impairing as they were repeated for a long time, and could not be voluntarily controlled by any means. He also reported that all his life was pedantic and obsessive, with repetitive behaviors and obsessional concerns for symmetry. He fullled DSM-IV-TR criteria for obsessive-compulsive disorder (OCD) [5]. There was family history of tics (father) and OCD (paternal aunt). Over the last few years he was prescribed different medications for his tics (both conventional and atypical antipsychotics) and for his obsessive-compulsive symptoms (selective seroFig. 1. Bald patch on scalp [A] and scar on forehead [B], resulting from trichotillomania and repetitive head banging, respectively.

tonin reuptake inhibitors, SSRIs), but his SIBs failed to respond to any pharmacological treatment. Cognitive behavioral therapy was also tried, without signicant benecial effects. At the follow up visit, 13 years after his rst referral to the Tourette clinic, he presented with essentially unchanged SIB signs and multiple tics, and the clinical picture was complicated by reactive depression according to multidisciplinary neuropsychiatric assessment.

3. Discussion According to large-sample clinical studies (n > 80), SIB can occur in up to 34% of patients with GTS, with a mean prevalence of 16%, although estimates vary depending on the denition of self-injury (Table 1). A variety of SIBs have been described in individuals with GTS, including compulsive skin picking, self hitting, tongue biting resulting in extremely swollen tongue and lateral oral mucosa wounds [6], mutilation of the upper lip caused by self-biting with the anterior lower teeth [7], ling of teeth, teeth grinding causing facial pain as a consequence of masticatory muscles and temporomandibular joint overload [8], touching of hot surfaces, eye damage from self poking, jabbing ngers into the eyes, and self-punching in the periorbital area leading to retinal detachment [9], and foot tapping with focal shoe deterioration and interphalangeal joint injury [10]. For reasons which are unclear, eye damage appears to be usual in GTS-related SIB [1,8,11]. In the patient described by Robertson et al. [11], SIB was so

A.E. Cavanna et al. / Self-injurious behaviors in GTS Table 1 Large-size (n > 80) clinical studies reporting the prevalence of self-injurious behavior in patients with Gillles de la Tourette syndrome Authors Ste, 1984 [?] Robertson et al., 1989 [1] Freeman et al., 2000 [?] Mathews et al., 2004 [13] Total No Gillles de la Tourette syndrome patients in the study 431 90 3500 297 4318 Percent of patients with self-injurious behavior 34 30 14 11 16

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severe (e.g. attempting to touch the back of his eye repeatedly), that he was submitted to neurosurgery (limbic leucotomy). Recently, Cheung et al. [12] reported several cases of SIB associated with malignant GTS and comorbid OCD, which can be extremely severe and life threatening. Such symptoms included, among others, a self-punching and elbow banging tic that led to damage to the ovary and urinary incontinence; self-evisceration associated to sexual release and orgasm during the act with self-cutting and shooting, which eventually led to the patients death. Retrospective cohort studies have suggested that SIB is correlated with severity of tic symptoms and with high levels of obsessionality and hostility [1] and impulsivity [13], as measured by a number of subjective rating scales. In addition to motor system abnormalities, SIB is associated with a number of psychiatric comorbidities, most commonly OCD and attention decit hyperactivity disorder. The tics themselves are clearly responsible for the severity of GTS, however the number and type of comorbid symptoms, including obsessions and compulsions, and SIBs are also crucial, and may be more clinically relevant than the tics when assessing overall impairment or health-related quality of life [14]. Specically, SIB can range from a mild and non-impairing situation to a severe and incapacitating state. Overall, the main clinical predictor for SIB seems to be the severity of obsessive compulsive symptoms; however, for more severe SIB, the most important predictors are tic severity and symptoms related to lack of impulse control (rages and risk taking behaviors), rather than obsessive compulsive symptoms. In our case report, the SIBs (trichotillomania and head banging) were impairing and treatment-resistant, and were associated with both distressing obsessive-compulsive symptomatology and tic severity. This case illustrates the complex nature and difcult management of severe SIB in the context of GTS and comorbid OCD. Little is known about the pathophysiological substrate of this complicated clinical picture, however converging ndings from preliminary investigations sug-

gest that altered serotonergic and dopaminergic signalling to the non-motor basal ganglia (striatal) thalamocortical pathway projecting to the orbitofrontal cortex could play a major role in the development of both tics and tic-related obsessive-compulsive symptoms [15]. Moreover, SIB expression in Lesch-Nyhan syndrome is thought to be associated with dysfunctional up-regulation of serotonin 5HT2-A and dopamine D2 receptors within the same brain pathways [16]. The treatment of SIB in individuals with GTS is notoriously challenging [1,2]. It has been suggested that in selected cases it is possible to relieve these symptoms by replacing SIBs with safer and less dangerous behaviors; pharmacological therapy (namely antidopaminergic and antiserotonergic agents) supported by psychological treatments (e.g. cognitive behavioral therapy) can be useful when the SIBs are related to obsessive compulsive symptomatology [6]. For treatment resistant cases, neurosurgical interventions with deep brain stimulation of the centro-median parafascicular and ventralis oralis complex of the thalamus have recently proved a valuable strategy in controlling SIB symptoms [17,18]. Acknowledgement The authors wish to thank Professor Mary Robertson for helpful comments on earlier versions of this manuscript. References
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