Journal http://jcn.sagepub.com/ of Child Neurology
Three Cases of Palatal Tics and Gilles De La Tourette Syndrome Renata Rizzo, Danielle Cath, Piero Pavone, Marina Tijssen and Mary M. Robertson J Child Neurol published online 22 September 2014 DOI: 10.1177/0883073814546687 The online version of this article can be found at: http://jcn.sagepub.com/content/early/2014/09/17/0883073814546687
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Brief Communication
Three Cases of Palatal Tics and Gilles De La Tourette Syndrome
Journal of Child Neurology 1-5 ª The Author(s) 2014 Reprints and permission: sagepub.com/journalsPermissions.nav DOI: 10.1177/0883073814546687 jcn.sagepub.com
Renata Rizzo, MD, PhD1, Danielle Cath, MD, PhD2, Piero Pavone, MD, PhD3, Marina Tijssen, MD, PhD4, and Mary M. Robertson, MBChB, MD, DSc(Med), DPM5,6,7,8
Abstract Five patients with palatal tics and Gilles de la Tourette syndrome have been previously reported. Little is known about the characteristics of palatal tics given that there are so few reports. On one hand, palatal tics may be rare. Alternatively, they may be less well recognized than repetitive eye blinking or sniffing, which are both obvious and, therefore, more often reported. We describe 3 patients with palatal tics and Gilles de la Tourette syndrome. We also review the 5 patients reported in the literature and explore whether there are characteristic features among this group of 8 cases. The 8 patients had the following features: (1) Personal history of other multiple motor/vocal tics, (2) the presence of typical Gilles de la Tourette syndrome comorbidities, (3) positive family history of tics and/or Gilles de la Tourette syndrome comorbidities, (4) the presence of audible ‘‘ear clicks,’’ (5) younger age at onset (2 years). We suggest that palatal tics are underreported. Keywords Tourette, case reports, palatal movements, characteristics palatal tics, differential diagnosis Received January 12, 2014. Received revised July 01, 2014. Accepted for publication July 01, 2014.
Gilles de la Tourette syndrome is a childhood-onset neuropsychiatric disorder characterized by multiple motor tics and 1 or more vocal/phonic tics, which according to accepted diagnostic criteria, persist longer than a year.1 It has been suggested that the prevalence of Gilles de la Tourette syndrome is 1%. Tics can be simple or complex and may include the following other features: echolalia, echopraxia, palilalia, coprolalia, premonitory sensations/ urges, suppressibility, rebound after suppression, suggestibility, a waxing and waning course, and characteristic self-injurious behaviors. In 90% of cases, there are common comorbidities, of which the most frequent are obsessivecompulsive behaviors/disorder, and attention deficit disorder with or without hyperactivity (attention-deficit hyperactivity disorder [ADHD]). In the majority of cases, there is a positive family history of tics, Gilles de la Tourette syndrome, ADHD, or obsessive-compulsive behaviors/disorder.2 Palatal movements, particularly palatal tremor (also known as palatal myoclonus), have been previously reviewed.3-6 Palatal tremor is characterized by rhythmic movements of the soft palate at 0.5 to 3 Hz. Various classifications have been proposed, with the main distinction being between essential/isolated palatal and symptomatic palatal tremor. Essential palatal tremor encompasses palatal movements where the patients’ laboratory and imaging tests are normal and they have no additional signs. Isolated palatal tremor includes primary isolated essential palatal
tremor, where palatal movements and ear clicks of undefined cause are the sole manifestation, secondary isolated palatal tremor (eg, palatal tics), and psychogenic palatal tic/tremor. Laboratory and imaging investigations are also normal in all these groups.3-5 The symptomatic form is usually associated
1
Child and Adolescent Neuropsychiatry, Dipartimento di Scienze Mediche e Pediatriche, University of Catania, Italy 2 Department of Clinical and Health Psychology, Utrecht University/Altrecht Academic Anxiety Outpatient Services, Utrecht, the Netherlands 3 Department of Pediatrics and Pediatric Emergency, Azienda OspedalieraUniversitaria O.V.E. Policlinico, University of Catania, Catania, Italy 4 Department of Neurology, University Medical Centre Groningen, Groningen, the Netherlands 5 Department of Neurology, St Georges Hospital, University of London, London, United Kingdom 6 Department of Mental Health Sciences, St Georges Medical School, University of London, London, United Kingdom 7 Department of Mental Health Sciences, University College London, London, United Kingdom 8 Department of Psychiatry, University of Cape Town, Rondebosch, Cape Town, South Africa Corresponding Author: Renata Rizzo MD, PhD, U.O. C di Neuropsichiatria Infantile, Dipartimento di Scienze Mediche e Pediatriche, Policlinico Universitario-OVE, Via Santa Sofia 78. 95123, Catania, Italia. Email: [email protected]
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with degenerative brain stem or cerebellar disease (eg, lesions in the Guillain Mollaret triangle). In patients with symptomatic form, there are abnormalities including olivary hypertrophy and often also causative lesions in the dentate-olivary pathway.3-6 These patients also present with neurologic abnormalities, including dysarthria, nystagmus, and ataxia.3 The most common type of palatal movements appear to be essential palatal tremor, then symptomatic form, followed by psychogenic palatal tremor, with the most rare being ‘‘palatal tics.’’ It is well known that ear clicks are a cardinal feature of essential palatal tremor (myoclonus), occurring in 90% of cases.3-5 Stamelou et al6 suggest that psychogenic palatal tremor is often underrecognized, although it has been noted that diagnosis is increasing in specialist centers.7 The prevalence of isolated palatal movements is unknown, although a thorough review of cases reported between 1996 and 2005 included 69 cases from 42 publications.3 The exact frequency of ‘‘palatal tics’’ in Gilles de la Tourette syndrome clinical cohorts is unknown, but in view of these few reports, we deduce that they are rare or underreported.5 We present 3 cases of ‘‘palatal tics’’ in the context of Gilles de la Tourette syndrome. In the literature, 5 patients who had ‘‘palatal tics’’ have been reported; these patients fulfilled the accepted diagnostic criteria for Gilles de la Tourette syndrome6-8 (Table 1).
Case Reports Our cases presented primarily with palatal movements in Gilles de la Tourette syndrome patients and were seen at the Universities of Catania and Utrecht.6 With regard to tics and tic-related psychopathology, our cases were assessed using the well-cited schedules and scales used for assessing Gilles de la Tourette syndrome (eg, National Hospital Interview Schedule, Diagnostic Confidence Index, Yale Global Tic Severity Scale, C-Yale Brown Obsessive Compulsive Scale, Conners’ Scale). The parents of all patients gave written consent to be included in the publication. The relevant clinical details, family history, and neuropsychiatric evaluation results, as well as details of the 5 cases from the literature are shown in the Table 1. Case 1 (Catania clinic) was a 14-year-old boy who presented at the clinic with concerned parents. When he was 13, he experienced involuntary intermittent, nonrhythmic palatal movements and ‘‘clicking’’ sounds that were audible to himself and others, but that were absent during mouth closure and when swallowing. The mother was concerned and the family sought advice, although neither the movements nor the noise distressed the boy. After assessment and normal investigations, the boy and family were reassured by the diagnosis of an unusual tic in Gilles de la Tourette syndrome and declined medication or further investigations. A follow-up 5 years later found that his symptomatology remained the same. Case 2 (Catania clinic) was a 10-year-old boy who sought an explanation for his constant rhythmic palatal movement, also audible to himself and others, which he described as the ‘‘ticking of a clock.’’ It remained even when his mouth was open.
The palatal movements were preceded by premonitory sensations/urges and were suppressible with classic rebound. The movements were absent when he was aware of his breathing, with tongue protrusion, and when asleep. Once again, after assessment and normal investigations, the boy and family were reassured by the diagnosis of an unusual tic in Gilles de la Tourette syndrome and declined medication or further investigations. A follow-up 2 years later found that his symptomatology remained the same. Case 3 (Utrecht clinic) was a 13-year-old girl whose typical Gilles de la Tourette syndrome tics had begun at 8 years of age, but who then experienced very bothersome palatal movements accompanied by unusual sounds that were audible to others. She sought further treatment when her classmates began teasing her by calling her ‘‘frog’’ or ‘‘clock.’’ She had previously received botulinum toxin injections to the palatal muscle, to no effect, and methylphenidate for her ADHD, which was effective. We commenced Habit Reversal Training with overall beneficial effects, including to the palatal movements/clicks.
Discussion We have presented 3 young patients with palatal movements in the context of Gilles de la Tourette syndrome. We feel it important to not only present these new cases but to also review the other 5 known cases in the literature in order to identify any possible common features relevant to the diagnosis of palatal tics. Only 8 cases have been reported, which suggests that the phenomenon is rare, underreported, or perhaps misdiagnosed. Palatal tremors have recently been documented in the case of psychogenic palatal tremor.6 Patients with Gilles de la Tourette syndrome often go unrecognized in many medical settings (eg, ear, nose, and throat otolaryngology clinics), and there may well be other undiagnosed patients who may benefit from a Gilles de la Tourette syndrome diagnosis and appropriate treatment.6 We also discuss our patients in light of the relatively new classification of palatal movement disorders.3 The most important other diagnoses from which palatal tics need to be differentiated include symptomatic form, essential palatal tremor, and psychogenic palatal tremor.3-6,8 In the interests of clarity and simplicity, we will refer to our 3 new patients and the 5 previous cases collectively as ‘‘the cases,’’ and attempt to identify any characteristics of this group, for example, distinguishing tics from other palatal movements. We found that all of the 8 cases had other typical Gilles de la Tourette syndrome symptoms with characteristic other motor and/or vocal tics. Importantly, 5 of our 8 cases also had typical Gilles de la Tourette syndrome comorbidities (obsessive-compulsive behaviors/disorder, ADHD), whereas only 1 case (from the literature) had solely tics or ‘‘pure Gilles de la Tourette syndrome.’’7 In clinical or epidemiologic studies, only 10% of Gilles de la Tourette syndrome cases have pure Gilles de la Tourette syndrome and 90% have comorbidities.1 In an article6 from which we conclude that comorbidities were ‘‘not stated,’’ the authors documented ‘‘no obvious psychiatric disorder’’ for both patients. This is true,
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3
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2
Adam et al7
11 19 38 33
12 21 40 40 10-40
17
13
10
14
Current age (y)
M¼4 F¼2 NS ¼ 2
M M NS
F
F
M
M
No
Father ¼ ADHD Half-brother and half-sister ¼ PDD-NOS
Tics and OCB (trich), and ADD, tics and OCB Yes; tic disorder in patients and family Yes ¼ 7 No ¼ 1 Yes ¼ 2 No ¼ 4 NS ¼ 2
No No NS
No
Yes
Father and PGF ¼ mild GTS Mother ¼ tics child
No
Yes
PMU
Father ¼ palilalia Mother ¼ VT and OCB
Gender Family history
Yes ¼ 8
Yes
Yes
Yes: since age 3 mo; age 15 y
Yes
Yes
Yes
Personal tic history (yes/no) YGTSS: 25 MOVES: 13 DCI: 81% ADHD (inattentive) YGTSS: 33 MOVES: 13 DCI: 75% SIB OCD YGTSS: 20 CY-BOCS: 16 CADHD: 5/9 OCB and ADHD (combined)
Comorbidities and scales
Rhythmic ¼ 3 Semirhythmic ¼1 Nonrhythmic ¼2 NS ¼ 2
Rhythmic Rhythmic NS
Comorbid ¼ 6 Pure GTS ¼ 1 NS ¼ 2
NS
GTS, OCB, ADHD
Semi rhythmic Nil (pure GTS) 40 cycles/min
Nonrhythmic
Rhythmic
Nonrhythmic
Rhythmic/ nonrhythmic
Yes ¼ 2 Partial ¼ 1 No ¼ 1 NS ¼ 4
NS
Partial
Yes
? NS
yes
no
Suppressibility
Yes—not present if mouth closed, swallowing, talking, and singing
Effect of mouth open
Yes ¼ 6 NS ¼ 2
NS
Yes: loud, audible
Loud, audible ‘‘clock’’ tics
Yes, audible and loud, ‘‘clock’’ tics
Yes ¼ 2 No ¼ 3 NS ¼ 3
Nil present open and/or closed NS
Present with mouth both open and closed
?
Yes Yes—nil if breathing or swallowing Loud audible ‘‘clock’’ tics
Yes loud audible ear clicks
Ear clicks
Abbreviations: ADHD, attention-deficit hyperactivity disorder; CADHD, childhood ADHD; CY-BOCS, Children’s Yale-Brown Obsessive Compulsive Scale; DCI, Diagnostic Confidence Index; F, female; GTS, Gilles de la Tourette syndrome; M, male; OCB, obsessive-compulsive behaviors; NS, not stated; PDD-NOS, pervasive developmental disorder, not otherwise specified; PGF, paternal grandfather; PMU, premonitory urges (sensations); SIB, self-injurious behaviors; trich, trichotillomania; VT, vocal tics; YGTSS, Yale Global Tic Severity Score; –ve, negative; þve, yes/positive.
Total
Stamelou et al
2/17 with tics 8
17
1
Schwingenschuch et al6
5
5
1
Present series, 3 (Utrecht)
7
1
Present series: 2 (Catania)
10
Age at onset (y)
1
No.
Present series: 1 (Catania), Rizzo et al
Author (y)
Table 1. The 3 Cases in Our Series as Well as the 5 From the Literature on Palatal Tics.
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Journal of Child Neurology
but we argue that in the diagnosis of Gilles de la Tourette syndrome patients, subtle obsessive-compulsive behaviors/disorder symptoms may be missed unless the doctors ask specifically about obsessive-compulsive behaviors/disorder (even mild obsessive-compulsive behaviors/disorder) instead of obsessive-compulsive disorder (a full obsessive-compulsive disorder assessment is long). Moreover, there were positive family histories of tics, Gilles de la Tourette syndrome, and/or the typical comorbidities in most of the present cases (n ¼ 7/8), which is typical of Gilles de la Tourette syndrome.1 We suggest that age was also an important common characteristic among the cases analyzed, in that 6 of the 8 cases displayed symptoms before the age of 19. This in accord with the literature documenting that Gilles de la Tourette syndrome has a young age of onset,1 unlike essential palatal tremor, in which the average age at onset is 29 years.3 In our clinics (3 cases), the ages at onset were 5, 7, and 10 years, respectively, which are typical of the age onset for Gilles de la Tourette syndrome. Two patients in the literature had a reported onset of 33 and 38 years, respectively, but they were seen by an adult movement disorders group.6,8 In our experience, Gilles de la Tourette syndrome patients quite often do not remember their early childhood symptoms, and information from parents, siblings, other family members, or friends is usually necessary for an accurate history. As 6 of the 8 cases had audible ear clicks (and the 2 others were ‘‘not stated’’), it appears that ear-clicking certainly can occur in Gilles de la Tourette syndrome as a result of palatal movements, which is almost ubiquitous in essential palatal tremor.3-5 This symptom therefore does not distinguish palatal tics from essential palatal tremor. Although the majority of Gilles de la Tourette syndrome patients have premonitory urges/sensations,2 we could find no reference in the literature for this symptom in essential palatal tremor. In the present cases, premonitory sensations/urges only occurred in 2 of the 8 cases, both of which were in our original series. Perhaps, essential palatal tremor patients are not normally asked about premonitory sensations/urges, particularly since essential palatal tremor is a heterogeneous disorder.3 We were surprised that several Gilles de la Tourette syndrome symptoms did not help to characterize this group. First, only 1 of the 8 cases was definitely nonrhythmic. We have no real suggestion regarding this aberration. The majority of movements are rhythmic and continuous in essential palatal tremor,3-5 whereas they are always irregular, waxing, and waning in Gilles de la Tourette syndrome.1 It is therefore conceivable that some of the 8 cases were misdiagnosed. Second, it is also surprising that the movements were suppressible or partially suppressible in only 3 of the 8 cases. It is important to note that data are missing for 4 of the 8 cases. It is also important to note that tics are generally, but not always, suppressible. Suppressibility has also been reported in psychogenic movements8 and occasionally in tremor.3 Therefore, suppressibility, although indicative of tics, is not a criterion that differentiates between tics, essential palatal tremor, and psychogenic palatal tremor.
It would be tempting to suggest that male sex may be important. Of the 8 cases, 4 were male, 2 were female, and the sex was not documented in 2 reports. This, however, is more probably more reflective of the male versus female preponderance in Gilles de la Tourette syndrome2 and not for these palatal movements in particular. We should mention, however, that in families with Gilles de la Tourette syndrome, male members are more commonly affected than female members but may instead have obsessive-compulsive behaviors/disorder. Furthermore, obsessive-compulsive behaviors/disorder symptoms are often missed in Gilles de la Tourette syndrome cohorts, as they are not directly inquired about.2 The male preponderance of Gilles de la Tourette syndrome, and thus possibly palatal tics, is in contrast to the observation that patients with psychogenic palatal tremor are usually female,6 whereas both sexes are equally affected in essential palatal tremor.3 We note that psychogenic palatal tremor is underrecognized6 but also that it is being increasingly diagnosed in specialist centers.7 Moreover, we suggest that palatal tics are both rare and underreported, as only 8 have been documented. In our combined clinics (RR, DC, and MMR), we have seen well over 2000 Gilles de la Tourette syndrome patients. To date, we have not routinely inquired about palatal tics and so may well have missed any inaudible ones. In addition, we must reiterate that all 3 patients that presented at our clinics with a ‘‘primary complaint’’ of audible clicking/ticking sounds that were bothersome to the patient (all 3/3) or others (case 3, who was also teased by her peers because of her tics). We thus suggest routine questioning as to the presence or absence of palatal tics. In other words, it is the clinical diagnosis of palatal movements in the setting of typical Gilles de la Tourette syndrome with other motor and vocal tics, the presence of typical comorbidities, and the presence of a typical Gilles de la Tourette syndrome family history that are the most distinguishing features of this group. These patients are young, more likely to be male, have ear clicks, and also have Gilles de la Tourette syndrome premonitory sensations/urges. It is unclear from the literature whether palatal tics can occur as an isolated symptom and could be diagnosed as a chronic motor (or vocal) tic, as no patients have been described with an isolated palatal tic. We present 3 new Gilles de la Tourette syndrome cases with audible palatal tics and 5 from the literature with palatal tics. Author Contributions RR, DC, and MMR conceived, wrote, and executed the study. MT and PP organized the research of the study. RR and MMR wrote the first draft of the manuscript. RR, DC, and MMR reviewed the manuscript. RR and MMR carried out the final revision of the study.
Declaration of Conflicting Interests The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
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Rizzo et al
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Funding The authors received no financial support for the research, authorship, and/or publication of this article.
Ethical Approval The ERB/Ethics Committee approval number is 612/12.
References 1. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 5th ed. Washington, DC: American Psychiatric Association; 2013. 2. Robertson MM. The Gilles de la Tourette syndrome: the current status. Arch Dis Child Educ Pract Ed. 2012;97:166-175. 3. Zadikoff C, Lang AE, Klein C. The ‘‘essentials’’ of essential palatal tremor: a reappraisal of the nosology. Brain. 2006;129:832-840.
4. Deutschl G, Mischke G, Schenk E, Schulte-Mo¨nting J, Lu¨cking CH. Symptomatic and essential rhythmic palatal myoclonus. Brain. 1990;113:1645-1672. 5. Deutschl G, Toro C, Hallett M. Symptomatic and essential palatal tremor, II: Differences of palatal movements. Mov Disord. 1994;9: 676-678. 6. Stamelou M, Saifee TA, Edwards MJ, Bhatia KP. Psychogenic palatal tremor may be under-recognized: reappraisal of a large series of cases. Mov Disord. 2012;27:1164-1168. 7. Schwingenschuh P, Wenzel K, Katschnig P, Saurugg R, Ott E. Case of a palatal tic resembling palatal tremor in a patient with Tourette syndrome. Mov Disord. 2007;22:742-745. 8. Adam OR, Ferrara JM, Jankovic J. Motor-phonic tic mimicking essential palatal myoclonus. Mov Disord. 2009;24: 2030-2032.
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Three Cases of Palatal Tics and Gilles De La Tourette Syndrome Renata Rizzo, Danielle Cath, Piero Pavone, Marina Tijssen and Mary M. Robertson J Child Neurol published online 22 September 2014 DOI: 10.1177/0883073814546687 The online version of this article can be found at: http://jcn.sagepub.com/content/early/2014/09/17/0883073814546687
Published by: http://www.sagepublications.com
Additional services and information for Journal of Child Neurology can be found at: Email Alerts: http://jcn.sagepub.com/cgi/alerts Subscriptions: http://jcn.sagepub.com/subscriptions Reprints: http://www.sagepub.com/journalsReprints.nav Permissions: http://www.sagepub.com/journalsPermissions.nav
>> OnlineFirst Version of Record - Sep 22, 2014 What is This?
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Brief Communication
Three Cases of Palatal Tics and Gilles De La Tourette Syndrome
Journal of Child Neurology 1-5 ª The Author(s) 2014 Reprints and permission: sagepub.com/journalsPermissions.nav DOI: 10.1177/0883073814546687 jcn.sagepub.com
Renata Rizzo, MD, PhD1, Danielle Cath, MD, PhD2, Piero Pavone, MD, PhD3, Marina Tijssen, MD, PhD4, and Mary M. Robertson, MBChB, MD, DSc(Med), DPM5,6,7,8
Abstract Five patients with palatal tics and Gilles de la Tourette syndrome have been previously reported. Little is known about the characteristics of palatal tics given that there are so few reports. On one hand, palatal tics may be rare. Alternatively, they may be less well recognized than repetitive eye blinking or sniffing, which are both obvious and, therefore, more often reported. We describe 3 patients with palatal tics and Gilles de la Tourette syndrome. We also review the 5 patients reported in the literature and explore whether there are characteristic features among this group of 8 cases. The 8 patients had the following features: (1) Personal history of other multiple motor/vocal tics, (2) the presence of typical Gilles de la Tourette syndrome comorbidities, (3) positive family history of tics and/or Gilles de la Tourette syndrome comorbidities, (4) the presence of audible ‘‘ear clicks,’’ (5) younger age at onset (2 years). We suggest that palatal tics are underreported. Keywords Tourette, case reports, palatal movements, characteristics palatal tics, differential diagnosis Received January 12, 2014. Received revised July 01, 2014. Accepted for publication July 01, 2014.
Gilles de la Tourette syndrome is a childhood-onset neuropsychiatric disorder characterized by multiple motor tics and 1 or more vocal/phonic tics, which according to accepted diagnostic criteria, persist longer than a year.1 It has been suggested that the prevalence of Gilles de la Tourette syndrome is 1%. Tics can be simple or complex and may include the following other features: echolalia, echopraxia, palilalia, coprolalia, premonitory sensations/ urges, suppressibility, rebound after suppression, suggestibility, a waxing and waning course, and characteristic self-injurious behaviors. In 90% of cases, there are common comorbidities, of which the most frequent are obsessivecompulsive behaviors/disorder, and attention deficit disorder with or without hyperactivity (attention-deficit hyperactivity disorder [ADHD]). In the majority of cases, there is a positive family history of tics, Gilles de la Tourette syndrome, ADHD, or obsessive-compulsive behaviors/disorder.2 Palatal movements, particularly palatal tremor (also known as palatal myoclonus), have been previously reviewed.3-6 Palatal tremor is characterized by rhythmic movements of the soft palate at 0.5 to 3 Hz. Various classifications have been proposed, with the main distinction being between essential/isolated palatal and symptomatic palatal tremor. Essential palatal tremor encompasses palatal movements where the patients’ laboratory and imaging tests are normal and they have no additional signs. Isolated palatal tremor includes primary isolated essential palatal
tremor, where palatal movements and ear clicks of undefined cause are the sole manifestation, secondary isolated palatal tremor (eg, palatal tics), and psychogenic palatal tic/tremor. Laboratory and imaging investigations are also normal in all these groups.3-5 The symptomatic form is usually associated
1
Child and Adolescent Neuropsychiatry, Dipartimento di Scienze Mediche e Pediatriche, University of Catania, Italy 2 Department of Clinical and Health Psychology, Utrecht University/Altrecht Academic Anxiety Outpatient Services, Utrecht, the Netherlands 3 Department of Pediatrics and Pediatric Emergency, Azienda OspedalieraUniversitaria O.V.E. Policlinico, University of Catania, Catania, Italy 4 Department of Neurology, University Medical Centre Groningen, Groningen, the Netherlands 5 Department of Neurology, St Georges Hospital, University of London, London, United Kingdom 6 Department of Mental Health Sciences, St Georges Medical School, University of London, London, United Kingdom 7 Department of Mental Health Sciences, University College London, London, United Kingdom 8 Department of Psychiatry, University of Cape Town, Rondebosch, Cape Town, South Africa Corresponding Author: Renata Rizzo MD, PhD, U.O. C di Neuropsichiatria Infantile, Dipartimento di Scienze Mediche e Pediatriche, Policlinico Universitario-OVE, Via Santa Sofia 78. 95123, Catania, Italia. Email: [email protected]
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with degenerative brain stem or cerebellar disease (eg, lesions in the Guillain Mollaret triangle). In patients with symptomatic form, there are abnormalities including olivary hypertrophy and often also causative lesions in the dentate-olivary pathway.3-6 These patients also present with neurologic abnormalities, including dysarthria, nystagmus, and ataxia.3 The most common type of palatal movements appear to be essential palatal tremor, then symptomatic form, followed by psychogenic palatal tremor, with the most rare being ‘‘palatal tics.’’ It is well known that ear clicks are a cardinal feature of essential palatal tremor (myoclonus), occurring in 90% of cases.3-5 Stamelou et al6 suggest that psychogenic palatal tremor is often underrecognized, although it has been noted that diagnosis is increasing in specialist centers.7 The prevalence of isolated palatal movements is unknown, although a thorough review of cases reported between 1996 and 2005 included 69 cases from 42 publications.3 The exact frequency of ‘‘palatal tics’’ in Gilles de la Tourette syndrome clinical cohorts is unknown, but in view of these few reports, we deduce that they are rare or underreported.5 We present 3 cases of ‘‘palatal tics’’ in the context of Gilles de la Tourette syndrome. In the literature, 5 patients who had ‘‘palatal tics’’ have been reported; these patients fulfilled the accepted diagnostic criteria for Gilles de la Tourette syndrome6-8 (Table 1).
Case Reports Our cases presented primarily with palatal movements in Gilles de la Tourette syndrome patients and were seen at the Universities of Catania and Utrecht.6 With regard to tics and tic-related psychopathology, our cases were assessed using the well-cited schedules and scales used for assessing Gilles de la Tourette syndrome (eg, National Hospital Interview Schedule, Diagnostic Confidence Index, Yale Global Tic Severity Scale, C-Yale Brown Obsessive Compulsive Scale, Conners’ Scale). The parents of all patients gave written consent to be included in the publication. The relevant clinical details, family history, and neuropsychiatric evaluation results, as well as details of the 5 cases from the literature are shown in the Table 1. Case 1 (Catania clinic) was a 14-year-old boy who presented at the clinic with concerned parents. When he was 13, he experienced involuntary intermittent, nonrhythmic palatal movements and ‘‘clicking’’ sounds that were audible to himself and others, but that were absent during mouth closure and when swallowing. The mother was concerned and the family sought advice, although neither the movements nor the noise distressed the boy. After assessment and normal investigations, the boy and family were reassured by the diagnosis of an unusual tic in Gilles de la Tourette syndrome and declined medication or further investigations. A follow-up 5 years later found that his symptomatology remained the same. Case 2 (Catania clinic) was a 10-year-old boy who sought an explanation for his constant rhythmic palatal movement, also audible to himself and others, which he described as the ‘‘ticking of a clock.’’ It remained even when his mouth was open.
The palatal movements were preceded by premonitory sensations/urges and were suppressible with classic rebound. The movements were absent when he was aware of his breathing, with tongue protrusion, and when asleep. Once again, after assessment and normal investigations, the boy and family were reassured by the diagnosis of an unusual tic in Gilles de la Tourette syndrome and declined medication or further investigations. A follow-up 2 years later found that his symptomatology remained the same. Case 3 (Utrecht clinic) was a 13-year-old girl whose typical Gilles de la Tourette syndrome tics had begun at 8 years of age, but who then experienced very bothersome palatal movements accompanied by unusual sounds that were audible to others. She sought further treatment when her classmates began teasing her by calling her ‘‘frog’’ or ‘‘clock.’’ She had previously received botulinum toxin injections to the palatal muscle, to no effect, and methylphenidate for her ADHD, which was effective. We commenced Habit Reversal Training with overall beneficial effects, including to the palatal movements/clicks.
Discussion We have presented 3 young patients with palatal movements in the context of Gilles de la Tourette syndrome. We feel it important to not only present these new cases but to also review the other 5 known cases in the literature in order to identify any possible common features relevant to the diagnosis of palatal tics. Only 8 cases have been reported, which suggests that the phenomenon is rare, underreported, or perhaps misdiagnosed. Palatal tremors have recently been documented in the case of psychogenic palatal tremor.6 Patients with Gilles de la Tourette syndrome often go unrecognized in many medical settings (eg, ear, nose, and throat otolaryngology clinics), and there may well be other undiagnosed patients who may benefit from a Gilles de la Tourette syndrome diagnosis and appropriate treatment.6 We also discuss our patients in light of the relatively new classification of palatal movement disorders.3 The most important other diagnoses from which palatal tics need to be differentiated include symptomatic form, essential palatal tremor, and psychogenic palatal tremor.3-6,8 In the interests of clarity and simplicity, we will refer to our 3 new patients and the 5 previous cases collectively as ‘‘the cases,’’ and attempt to identify any characteristics of this group, for example, distinguishing tics from other palatal movements. We found that all of the 8 cases had other typical Gilles de la Tourette syndrome symptoms with characteristic other motor and/or vocal tics. Importantly, 5 of our 8 cases also had typical Gilles de la Tourette syndrome comorbidities (obsessive-compulsive behaviors/disorder, ADHD), whereas only 1 case (from the literature) had solely tics or ‘‘pure Gilles de la Tourette syndrome.’’7 In clinical or epidemiologic studies, only 10% of Gilles de la Tourette syndrome cases have pure Gilles de la Tourette syndrome and 90% have comorbidities.1 In an article6 from which we conclude that comorbidities were ‘‘not stated,’’ the authors documented ‘‘no obvious psychiatric disorder’’ for both patients. This is true,
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3
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2
Adam et al7
11 19 38 33
12 21 40 40 10-40
17
13
10
14
Current age (y)
M¼4 F¼2 NS ¼ 2
M M NS
F
F
M
M
No
Father ¼ ADHD Half-brother and half-sister ¼ PDD-NOS
Tics and OCB (trich), and ADD, tics and OCB Yes; tic disorder in patients and family Yes ¼ 7 No ¼ 1 Yes ¼ 2 No ¼ 4 NS ¼ 2
No No NS
No
Yes
Father and PGF ¼ mild GTS Mother ¼ tics child
No
Yes
PMU
Father ¼ palilalia Mother ¼ VT and OCB
Gender Family history
Yes ¼ 8
Yes
Yes
Yes: since age 3 mo; age 15 y
Yes
Yes
Yes
Personal tic history (yes/no) YGTSS: 25 MOVES: 13 DCI: 81% ADHD (inattentive) YGTSS: 33 MOVES: 13 DCI: 75% SIB OCD YGTSS: 20 CY-BOCS: 16 CADHD: 5/9 OCB and ADHD (combined)
Comorbidities and scales
Rhythmic ¼ 3 Semirhythmic ¼1 Nonrhythmic ¼2 NS ¼ 2
Rhythmic Rhythmic NS
Comorbid ¼ 6 Pure GTS ¼ 1 NS ¼ 2
NS
GTS, OCB, ADHD
Semi rhythmic Nil (pure GTS) 40 cycles/min
Nonrhythmic
Rhythmic
Nonrhythmic
Rhythmic/ nonrhythmic
Yes ¼ 2 Partial ¼ 1 No ¼ 1 NS ¼ 4
NS
Partial
Yes
? NS
yes
no
Suppressibility
Yes—not present if mouth closed, swallowing, talking, and singing
Effect of mouth open
Yes ¼ 6 NS ¼ 2
NS
Yes: loud, audible
Loud, audible ‘‘clock’’ tics
Yes, audible and loud, ‘‘clock’’ tics
Yes ¼ 2 No ¼ 3 NS ¼ 3
Nil present open and/or closed NS
Present with mouth both open and closed
?
Yes Yes—nil if breathing or swallowing Loud audible ‘‘clock’’ tics
Yes loud audible ear clicks
Ear clicks
Abbreviations: ADHD, attention-deficit hyperactivity disorder; CADHD, childhood ADHD; CY-BOCS, Children’s Yale-Brown Obsessive Compulsive Scale; DCI, Diagnostic Confidence Index; F, female; GTS, Gilles de la Tourette syndrome; M, male; OCB, obsessive-compulsive behaviors; NS, not stated; PDD-NOS, pervasive developmental disorder, not otherwise specified; PGF, paternal grandfather; PMU, premonitory urges (sensations); SIB, self-injurious behaviors; trich, trichotillomania; VT, vocal tics; YGTSS, Yale Global Tic Severity Score; –ve, negative; þve, yes/positive.
Total
Stamelou et al
2/17 with tics 8
17
1
Schwingenschuch et al6
5
5
1
Present series, 3 (Utrecht)
7
1
Present series: 2 (Catania)
10
Age at onset (y)
1
No.
Present series: 1 (Catania), Rizzo et al
Author (y)
Table 1. The 3 Cases in Our Series as Well as the 5 From the Literature on Palatal Tics.
4
Journal of Child Neurology
but we argue that in the diagnosis of Gilles de la Tourette syndrome patients, subtle obsessive-compulsive behaviors/disorder symptoms may be missed unless the doctors ask specifically about obsessive-compulsive behaviors/disorder (even mild obsessive-compulsive behaviors/disorder) instead of obsessive-compulsive disorder (a full obsessive-compulsive disorder assessment is long). Moreover, there were positive family histories of tics, Gilles de la Tourette syndrome, and/or the typical comorbidities in most of the present cases (n ¼ 7/8), which is typical of Gilles de la Tourette syndrome.1 We suggest that age was also an important common characteristic among the cases analyzed, in that 6 of the 8 cases displayed symptoms before the age of 19. This in accord with the literature documenting that Gilles de la Tourette syndrome has a young age of onset,1 unlike essential palatal tremor, in which the average age at onset is 29 years.3 In our clinics (3 cases), the ages at onset were 5, 7, and 10 years, respectively, which are typical of the age onset for Gilles de la Tourette syndrome. Two patients in the literature had a reported onset of 33 and 38 years, respectively, but they were seen by an adult movement disorders group.6,8 In our experience, Gilles de la Tourette syndrome patients quite often do not remember their early childhood symptoms, and information from parents, siblings, other family members, or friends is usually necessary for an accurate history. As 6 of the 8 cases had audible ear clicks (and the 2 others were ‘‘not stated’’), it appears that ear-clicking certainly can occur in Gilles de la Tourette syndrome as a result of palatal movements, which is almost ubiquitous in essential palatal tremor.3-5 This symptom therefore does not distinguish palatal tics from essential palatal tremor. Although the majority of Gilles de la Tourette syndrome patients have premonitory urges/sensations,2 we could find no reference in the literature for this symptom in essential palatal tremor. In the present cases, premonitory sensations/urges only occurred in 2 of the 8 cases, both of which were in our original series. Perhaps, essential palatal tremor patients are not normally asked about premonitory sensations/urges, particularly since essential palatal tremor is a heterogeneous disorder.3 We were surprised that several Gilles de la Tourette syndrome symptoms did not help to characterize this group. First, only 1 of the 8 cases was definitely nonrhythmic. We have no real suggestion regarding this aberration. The majority of movements are rhythmic and continuous in essential palatal tremor,3-5 whereas they are always irregular, waxing, and waning in Gilles de la Tourette syndrome.1 It is therefore conceivable that some of the 8 cases were misdiagnosed. Second, it is also surprising that the movements were suppressible or partially suppressible in only 3 of the 8 cases. It is important to note that data are missing for 4 of the 8 cases. It is also important to note that tics are generally, but not always, suppressible. Suppressibility has also been reported in psychogenic movements8 and occasionally in tremor.3 Therefore, suppressibility, although indicative of tics, is not a criterion that differentiates between tics, essential palatal tremor, and psychogenic palatal tremor.
It would be tempting to suggest that male sex may be important. Of the 8 cases, 4 were male, 2 were female, and the sex was not documented in 2 reports. This, however, is more probably more reflective of the male versus female preponderance in Gilles de la Tourette syndrome2 and not for these palatal movements in particular. We should mention, however, that in families with Gilles de la Tourette syndrome, male members are more commonly affected than female members but may instead have obsessive-compulsive behaviors/disorder. Furthermore, obsessive-compulsive behaviors/disorder symptoms are often missed in Gilles de la Tourette syndrome cohorts, as they are not directly inquired about.2 The male preponderance of Gilles de la Tourette syndrome, and thus possibly palatal tics, is in contrast to the observation that patients with psychogenic palatal tremor are usually female,6 whereas both sexes are equally affected in essential palatal tremor.3 We note that psychogenic palatal tremor is underrecognized6 but also that it is being increasingly diagnosed in specialist centers.7 Moreover, we suggest that palatal tics are both rare and underreported, as only 8 have been documented. In our combined clinics (RR, DC, and MMR), we have seen well over 2000 Gilles de la Tourette syndrome patients. To date, we have not routinely inquired about palatal tics and so may well have missed any inaudible ones. In addition, we must reiterate that all 3 patients that presented at our clinics with a ‘‘primary complaint’’ of audible clicking/ticking sounds that were bothersome to the patient (all 3/3) or others (case 3, who was also teased by her peers because of her tics). We thus suggest routine questioning as to the presence or absence of palatal tics. In other words, it is the clinical diagnosis of palatal movements in the setting of typical Gilles de la Tourette syndrome with other motor and vocal tics, the presence of typical comorbidities, and the presence of a typical Gilles de la Tourette syndrome family history that are the most distinguishing features of this group. These patients are young, more likely to be male, have ear clicks, and also have Gilles de la Tourette syndrome premonitory sensations/urges. It is unclear from the literature whether palatal tics can occur as an isolated symptom and could be diagnosed as a chronic motor (or vocal) tic, as no patients have been described with an isolated palatal tic. We present 3 new Gilles de la Tourette syndrome cases with audible palatal tics and 5 from the literature with palatal tics. Author Contributions RR, DC, and MMR conceived, wrote, and executed the study. MT and PP organized the research of the study. RR and MMR wrote the first draft of the manuscript. RR, DC, and MMR reviewed the manuscript. RR and MMR carried out the final revision of the study.
Declaration of Conflicting Interests The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
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Rizzo et al
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Funding The authors received no financial support for the research, authorship, and/or publication of this article.
Ethical Approval The ERB/Ethics Committee approval number is 612/12.
References 1. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 5th ed. Washington, DC: American Psychiatric Association; 2013. 2. Robertson MM. The Gilles de la Tourette syndrome: the current status. Arch Dis Child Educ Pract Ed. 2012;97:166-175. 3. Zadikoff C, Lang AE, Klein C. The ‘‘essentials’’ of essential palatal tremor: a reappraisal of the nosology. Brain. 2006;129:832-840.
4. Deutschl G, Mischke G, Schenk E, Schulte-Mo¨nting J, Lu¨cking CH. Symptomatic and essential rhythmic palatal myoclonus. Brain. 1990;113:1645-1672. 5. Deutschl G, Toro C, Hallett M. Symptomatic and essential palatal tremor, II: Differences of palatal movements. Mov Disord. 1994;9: 676-678. 6. Stamelou M, Saifee TA, Edwards MJ, Bhatia KP. Psychogenic palatal tremor may be under-recognized: reappraisal of a large series of cases. Mov Disord. 2012;27:1164-1168. 7. Schwingenschuh P, Wenzel K, Katschnig P, Saurugg R, Ott E. Case of a palatal tic resembling palatal tremor in a patient with Tourette syndrome. Mov Disord. 2007;22:742-745. 8. Adam OR, Ferrara JM, Jankovic J. Motor-phonic tic mimicking essential palatal myoclonus. Mov Disord. 2009;24: 2030-2032.
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