Helen Simmons

Emotional processing and executive functioning in children and adults with Tourette's syndrome

Tourettes syndrome (TS) is predominantly a childhood disorder, with many of those who meet diagnostic criteria in childhood experiencing a remission of symptoms in adulthood. This indicates that the influence of TS on cognitive and emotional processing can best be understood by examining performance in both adults and children with TS. The present study examined emotional processing using a battery of face and prosody tasks with increasing levels of difficulty (same-different emotion discrimination, emotion naming, and emotion naming with conflict for prosody only). Experiment 1 compared the performance of children with TS-alone (n = 16) or TS+ADHD (n = 15) to healthy matched control children (n = 27). Compared to healthy control children, no significant group differences were found for those with TS-alone. Children with TS+ADHD showed subtle impairments on the more difficult emotion processing tasks relative to healthy control children, and differences were more pronounced for anger items (voice emotion naming, p < .05; voice emotion naming with conflict, p < .01). Experiment 2 compared the performance of adults with TS-alone (n = 23) to healthy matched controls (n = 21). No significant group differences were found, other than evidence of subtle impairment in the adults with TS-alone on the most complex task, again particularly for anger items (p < .05). Separate measurement of executive skills detected no evidence of impairment in children or adults with TS and little in the way of correlational evidence linking emotion recognition and executive skills. Implications of the findings for our understanding of emotion processing in TS are discussed.

SEVERE REFRACTORY TOURETTE SYNDROME

Objective The worldwide prevalence of Tourettes syndrome (TS) is well established at around 1% of school children in community studies, but little is known about the frequency of severe cases resistant to medical treatment. This subset of patients has taken on new significance due to the emergence of deep brain stimulation (DBS). We screened a specialist clinical cohort to identify this group. Method Data was acquired from the case records of 329 patients of all ages attending the St. Georges Tic Disorder clinic. Disease severity and resistance to pharmacological treatment were defined as per published European Society for the Study of Tourette Syndrome guidelines, i.e. Yale Global Tic Severity Score (YGTSS) >35 and resistance to three drug treatments including a typical and an atypical neuroleptic. Clinical records were reviewed for adherence 13 points in the guideline. Results 14 out of 329 patients (4.3%) were deemed both severe and refractory to pharmacological treatment and had a mean YGTSS of 38.7. The small number in this group precluded statistical analysis of patient characteristics compared to the control group. No patients fulfilled all ESSTS guideline criteria although two patients in the cohort had already had DBS and one other had been assessed for DBS but improved substantially with a further medication choice (Topiramate). Conclusion Patients in this group are the public face of TS. Their population prevalence is unknown but they are likely to over-represented in clinical cohorts although other individuals may have withdrawn from society and medical care. Even in this tertiary specialised clinic cohort fewer than 5% would be likely to be suitable for DBS given it remains a procedure for the severest cases. Current guidelines for patient selection have been drawn up in the era of a semi-experimental technique and are likely to evolve. Published criteria that that have been waived on compassionate grounds in this and other cohorts are minimum age recommendations (>25 years) and full access to behavioural therapies.

TIC ATTACKS IN TOURETTE SYNDROME

Introduction Tourette syndrome (TS) is a childhood–onset neurodevelopmental disorder characterised by chronic multiple motor and vocal tics associated with other co–morbidities in most cases. The natural course is for symptoms to fluctuate according to situation with underlying waxing and waning in severity over weeks, months and years. Case reports have described distinct bouts of severe, continuous, non–suppressible and disabling tics lasting from 15 minutes to several hours, events known synonymously as “tic status”, “tic attacks” or “tic fits”. These events are described more often in patient forums than in a very small literature. This study documents the prevalence and clinical features of these attacks in a tertiary clinic cohort and investigates the relationship between tic attacks, the severity of underlying TS and the presence of associated co–morbidities. Methods Clinical records of 369 patients were retrospectively examined for descriptions of tic attacks ie. clinically disabling bouts of non–suppressible repetitive tics occurring in full consciousness. The clinical features of the attacks were recorded. These patients were compared to a control group of the remaining 337 patients in terms of age, gender, presence of associated co–morbidities and TS severity. Results 32 patients with tic attacks were identified (8.7%). This is likely to be an underestimate as relies on clinical assessments which may not have included systematic enquiry on this point. Duration of attacks was from 3 minutes up to 3 hours. Reported provoking factors included periods of increased obsessive compulsive symptomatology and preceding prolonged suppression of tics for instance at bedtime in children. Tic attacks had necessitated the introduction of PRN medication and emergency hospital attendance in several of the patients. Patients with tic attacks were significantly younger than control TS patients (mean 14 v. 20 years) and more likely to be in the age range 10–19 years (72% v. 41%). Patients in the tic attack group had significantly more co–morbid attention deficit hyperactivity disorder (56% v 29%) but other common co–morbidities (obsessive compulsive disorder, oppositional defiant disorder (in children) and mood disorders) were present at similar rates in both groups. Tic attacks were associated with TS of greater underlying severity as measured on the Yale Global Tic Severity Score (31 v. 25), and clinician rating as “severe” in 46% v. 15%. Discussion Tic attacks are much more common in a tertiary clinic cohort than previously thought, and this may become more apparent if the symptom is prospectively sought. The term can be attached to episodes down to short durations that may not be far outwith the normally expected range of the condition and so is not clinically homogeneous. However, tic attacks cause particular alarm or disability and have the potential to be mistaken for epileptic seizures, a problem that has certainly occurred in practice. An association with ADHD could reflect a shared aetiological substrate but as ADHD is more common in more severe TS cases the explanation could be less specific.

DO PRENATAL AND PERINATAL COMPLICATIONS INFLUENCE TIC SEVERITY IN PATIENTS WITH GILLES DE LA TOURETTE SYNDROME

Objective Evidence for the role of complex genetics in the clinical expression of Gilles de la Tourette (GTS) is widespread. Streptococcal autoimmunity as another aetiology is under intense investigation but there is relatively little evidence for other environmental factors. It has long been suggested that perinatal problems increase vulnerability to Tourette syndrome. The aim of this project was to investigate whether prenatal or perinatal complications are associated with an increased tic severity in patients who develop GTS. Method 193 patients with GTS attending St Georges Hospital between 2004–2011 were retrospectively reviewed for exposure to prenatal and perinatal complications (Mean age 20.3 ± 13.55; age range 3–76; 145 males: 48 females) The Yale Global Tic Severity Score (YGTSS) was used to assess current tic severity, giving each patient a score out of 25 for phonic and motor tics, and a score out of 50 for total tic severity. An additional score was given for overall impairment caused by GTS ranging from 0 (no impairment) to 50 (severe impairment). Records were also reviewed for the presence of current co-morbidity associated with GTS (ADHD/OCB/OCD); and assessed for any family history of GTS, tics, ADHD, OCD or OCB. The mean tic severity and impairment scores for the group who reported prenatal or perinatal complications were assessed in comparison to those of the group reporting no complications. Results Perinatal complications were reported in 92 out of 193 patients (48%). The mean total tic score compared to patients with a history of complications was 25.94 vs. 24.88 and the mean impairment scores were 29.01 vs. 25.24 respectively. Conclusion Previous multivariate analyses have correlated perinatal factors with tic severity e.g. maternal smoking. In this cohort, prenatal and perinatal complications were not associated with increased motor, phonic or total tic severity or increase in impairment and there was no increased level of comorbidity or family history. Limitations include recall bias for perinatal events, a univariate approach and the measure of severity in all studies which applies to one time-point in a fluctuating condition.

EPILEPSY IN TOURETTE SYNDROME

Objective Tourette Syndrome (TS) is a neurodevelopmental disorder frequently associated with comorbidities such as OCD, ADHD and autistic spectrum disorders (ASD). Tics are more common in Learning Difficulty (LD) populations. The mechanism of these associations is felt to vary for instance appearing to be more genetically based for OCD than for ADHD. The comorbid conditions seen with TS are known to be associated with increased or high rates of epilepsy. In turn, epilepsy cohorts also have high rates of neurodevelopmental and behavioural disorders. There has been little literature on epilepsy in TS. Method Clinical records of 347 patients with TS seen at a specialist clinic were reviewed. Associated conditions were diagnosed clinically but it was not possible to stratify LD by IQ. Epilepsy diagnoses were rated as definite or probable by a neurologist taking into account previous investigations including EEG where available, clinical descriptions and treatment. Cases where epilepsy had been inappropriately suspected or misdiagnosed were excluded. Results The cohort was 23% female and 50% under the age of 17 with the following comorbidities: OCD (24%), ADHD (54%), LD (10%) and ASD (10%). Epilepsy was seen in 21 cases (6%) and was felt to be definite in half of these cases. Mean age of seizure onset was 7 years and was within a year of onset of tics in 33% of the epilepsy cases. In 4-6 cases the seizures were felt to be symptomatic, in 6 were focal and in 9 had remitted. Cases with epilepsy were not more severe on Yale Global Tic Severity Scores but had more comorbidity. There was an earlier age of onset of tics and significantly higher rates of ADHD, OCD and LD with a non-significant trend for an increased rate of ASD. Looking at the figures from the other direction, patients in the TS cohort with LD and OCD had significantly increased rates of epilepsy (18.2% v. 4.8% for LD) and there were non-significant trends for ADHD and ASD. Conclusion Patients with Tourette syndrome have a higher than expected rate of epilepsy, and are also sometimes misdiagnosed with seizures. Rates are higher still in patients with various comorbidities, especially LD, and uncommon in “pure” TS. Seizures could be a marker for a more severe neurodevelopment syndrome, or could reflect a shared substrate. Thalamocortical dopaminergic dysfunction has been linked to seizures and there could be contributions from epileptogenesis effects of neurodevelopmental genes or drug treatment for tics.

PA.02 Tourettism in adults

Aims We investigated cases of Tourette syndrome (TS) with atypical chronology in terms of age of onset. According to DSM IV-TR onset of TS is by the age of 18. Most cases have their onset earlier at ages 5–10. Peak severity of tics is usually around the ages of 11–13 so that severe cases in adulthood represent a minority. We investigated the characteristics of patients (1) with an onset of symptoms in late adolescence (2) with apparent onset in adulthood and (3) other atypical cases with an early onset of mild symptoms followed by transition to significantly more severe tics after the age of 18. Methods Review of 220 patient records collected in a joint paediatric and adult Tic Disorder clinic was performed. Cases with onset over the age of 18, or of onset from 15–18 years old, or of childhood onset with late significant exacerbation over the age of 18 were selected for comparison with the remaining majority of cases who exhibited early onset and had been seen either as paediatric or adult referrals. Phenomenology of the tics and associated comorbidities were examined. Results Six adult-onset cases were identified and had a mean age of onset of 37.3 (21–57). Four were male and 4 had tics that were considered moderate or severe. None of these cases experienced premonitory sensations in association with their tics, a feature which is integral to most people with tics. Obsessionality milder than the criteria for OCD was present in half the cases, 2 had coprolalia, and a family history of tics was present in two cases only. There were also 6 “late exacerbation” cases with a mean age of 25 years for the exacerbation and all had severe tics and coprolalia as part of their late presentation. Most of these cases had a family history of tics or obsessionality and also significant histories of difficulties at birth/delivery. These cases all had premonitory sensations as would be expected from the control cases. Only four late adolescent-onset cases were found and, given the small number, they did not have features distinguishing them from control cases. Conclusions It is suggested that adult-onset cases of a phenotype otherwise consistent with the TS phenotype may be biologically different to childhood-onset cases. We found an unusual absence of premonitory sensations in this group and also less relevant family history than expected. Adult-onset TS is documented here and previously only in small numbers. Some previous data has considered cases of a childhood-onset mild tic disorder followed by later severe exacerbation as an adult-onset category. We separated this group and found they experienced premonitory sensations as usual but all had a distinctively severe disorder with coprolalia.

13 Underprovision of behavioural therapies for tourette syndrome

Objective To assess the unmet need for comprehensive behavioural intervention for tics (CBIT) and habit reversal therapy (HRT) in adults and children with Tourette Syndrome. Method Patients with Tourette Syndrome who attended the St George’s clinic between 2004 and 2015 were selected for the study (Total 388). Basic clinical characteristics and the status of CBIT/HRT was assessed for each case. It was classified as being: (1) recommended by the clinician, (2) directly referred for therapy, (3) actually received therapy, (4) stated not suitable as not indicated for reasons such as significant learning difficulty or implied lack of availability of therapists or (5) explicitly stated to be inaccessible for the patient or (6) not mentioned at all in the notes. Results Of the 388 patients 24% were female and 76% male. 41% were adults and 56% were children of 17 years and under. In total only 111 (29%) had behavioural therapy mentioned in their clinical notes. This has increased over the years with an increase from 6% in adults in 2005 to 43% in 2015 and from 11% in children in 2005 to 78% in 2015. 23 patients (6%) were categorised as not suitable. Behavioural therapy was recommended but not eventually provided to 31 of these patients (8%). In a further 35 patients (9%), behavioural therapy was deemed inaccessible by the clinician to begin with, before any attempt was even made for a referral. Only 18 (5%) patients were actually referred for behavioural therapy and 4 (1%) patients out the total 388 received behavioural therapy (2 children and 2 adults) although missing notes may have reduced this number. Conclusion Behavioural therapies are an evidence-based treatment for Tourette syndrome. The data presented here were extracted from clinical notes and were not collected prospectively for this purpose so it was often difficult to know if clinicians omitted explicit mention of CBIT/HRT because of lack of availability or on the basis of patient selection. Increasing interest over the years is however demonstrated here by an increasing focus in the patient notes, but there is still very little access to this form of treatment, a national problem. Anecdotally, many more referrals have been made for children from this clinic to another centre in the last 12 months. Under provision in the NHS of specialised psychological services for Tourette syndrome needs to be urgently addressed.

33 Tolerability of neuroleptics for tourette syndrome

Objective Pharmacological treatments of Tourette Syndrome (TS) are variable in their efficacy and tolerability between patients. Most studies examine a single drug with a focus on effective treatment. We aimed to identify the frequency of treatment limiting adverse effects seen in TS patients prescribed one of the most commonly used first line groups of drugs, neuroleptics. Method 185 sets of clinical notes from a dedicated Tic Disorder clinic were retrospectively reviewed. These represented patients with surnames starting A-G over a 10 year period and 107 were over 18 years old. Neuroleptic prescriptions and the outcome in terms of tolerability at the next clinical review was recorded, but mentions of historical treatment before reaching our clinic were not included. Results 111/185 members of the cohort were not prescribed neuroleptics, or were not at the time of study monitored for at least one review visit. The most used drug was Aripiprazole in 66 patients – 75% of all neuroleptic drugs prescribed. 18% were stopped due to side effects and 12% were reduced in dose due to side effects; so, 30% of Aripiprazole prescriptions were associated with limiting adverse side effects. Tiredness was most common (n=8), followed by weight gain (n=5) and sedation (n=4). 15 prescriptions of Aripiprazole were associated with no reported side effects. 22 patients were prescribed other neuroleptics and further information will be presented. Conclusion The majority of patients do not report adverse effects and continue with their Aripiprazole prescription. Around 18% discontinued the drug due to adverse effects, in line with previous data. The study was limited by short follow-up times as other patients may subsequently experience treatment-limiting side effects after successful early review. In recent years Aripiprazole tended to be the first line neuroleptic used, so data on other less used alternatives may be biassed by being prescribed after one agent had already failed due to adverse effects or lack of efficacy.

A CASE OF SYNAESTHETIC TOURETTE SYNDROME

Objective We present the case of a 48 year old woman with co-occurring synaesthesia and Tourette syndrome. Method A 48 year old lady was referred for her Tourette syndrome. She had experienced mild typical simple motor and vocal tics from age 6, which by age 17 had improved to only a throat clearing tic. At age 44 the tic disorder gradually became more florid with multiple complex tics and intrusive non-obscene socially inappropriate behaviours. At assessment other characteristic comorbidities were identified; obsessive compulsive disorder and probably attention deficit disorder as a child. In addition symptoms of lifelong synaesthesia were elicited. Results As is often the case, the patient was not aware that synaesthetic experiences are not common to us all. There was interaction in her symptomatology between the two conditions, probably partly driven by obsessionality. For instance, the stimulus of another person swearing leads to echocoprolalic urges that elicit the synaesthetic percept of a ginger cat which in turn precipitated the utterance of the phrase “ginger cat” instead of repeating the swear word. For each different swear word, the patient experiences a different image e.g. a pink flip-flop. When the patient smells cooking, it elicits a strong sensation of burnt apple pie which then triggers off motor and vocal tics. In noisy environments she sees swirling coloured numbers which she feels cause her to tic. A similar effect can accompany her premonitory urge to tic. Orange is an especially prominent colour in these experiences, and one of her socially inappropriate tics is to shout “ginger kids”. Conclusion This is a unique case of Tourette syndrome coincidentally comorbid with synaesthesia with the latter interacting, provoking and being driven by tics and obsessionality. The putative neuroanatomy of colour-grapheme synaesthesia is debated (abnormal activation in visual colour association V4/V8/fusiform areas) but probably does not overlap with the proposed substrate of Tourette syndrome (basal ganglia/thalamocortical circuits). It is suggested that in this patient the interaction of the two conditions is mediated at a higher cognitive level over the four year course since the late exacerbation of her Tourette syndrome, in itself an atypical evolution.

MOTOR VERSUS VOCAL TICS

Objective Some patients with Tourette syndrome present with predominant motor or vocal tics rather than a more balanced combination. We looked at the distribution of the two tic types in a large cohort and also at the clinical characteristics of outliers. The aim was to compare the balance of motor and phonic tics in Tourettes syndrome patient and to assess whether having a significant difference between the motor and phonic tics has any effect on co-morbidity. Method The Yale Global Tic Severity Scale (YGTSS) scores of 315 patients taken at first visit were reviewed and motor and vocal tic scores plotted graphically. A visual cut-off for outliers with unbalanced tic severities was selected as a difference of 9 or more points. Results 31 patients had predominantly motor tics with a range of severity, 2 had more vocal tics and the remaining 282 were considered “balanced”. There was a trend to reduced rate of ADHD in the predominant motor group (p=0.054). Values for the YGTSS impairment component were equally spread in the unbalanced group. Conclusion Most patients have fairly balanced motor and vocal tics, unbalanced presentations seem far more likely to be motor than vocal and the trend to less ADHD in this situation may relate to the gradient of comorbidity rates in TS compared to chronic vocal and chronic motor tics seen in epidemiological samples which are lower for motor tics.