Cristiano Termine

Health-related quality of life in Gilles de la Tourette syndrome: a decade of research.

Gilles de la Tourette syndrome (GTS) is a neurodevelopmental condition characterised by multiple motor and phonic tics and associated behavioural problems, carrying a significant burden on patients lives. Although the term health related-quality of life (HR-QOL) has only been used in recent years, several studies have long addressed the impact of GTS on physical, psychological and social aspects of wellbeing of both children and adults with GTS. We set out to answer the question Is HR-QOL affected by GTS and, if so, in what domains? by conducting a systematic literature review of published original studies addressing HR-QOL in both children and adult patients with GTS. This review focuses on the current evidence on the impact of GTS on patients lives, mainly informed by studies using generic functional impairment and HR-QOL measures from the last decade, and expands on the new opportunities introduced by the recently developed GTS-specific HR-QOL scales (GTS-QOL and GTS-QOL-C&A). Analysis of the first decade of studies specifically addressing HR-QOL in GTS suggests that co-morbid conditions are key factors in determining HR-QOL in young patients, whilst the picture is more complex in adults with GTS. These findings offer some general directions for both current clinical practice and future research.

Osmophobia in migraine classification: A multicentre study in juvenile patients

Aims: This study was planned to investigate the diagnostic utility of osmophobia as criterion for migraine without aura (MO) as proposed in the Appendix (A1.1) of the International Classification of Headache Disorders (ICHD-II, 2004). Methods: We analysed 1020 patients presenting at 10 Italian juvenile headache centres, 622 affected by migraine (M) and 328 by tension-type headache (TTH); 70 were affected by headache not elsewhere classified (NEC) in ICHD-II. By using a semi-structured questionnaire, the prevalence of osmophobia was 26.9%, significantly higher in M than TTH patients (34.6% vs 14.3%). Results: Osmophobia was correlated with: (i) family history of M and osmophobia; and (ii) other accompanying symptoms of M. By applying these ‘new’ criteria, we found an agreement with the current criteria for the diagnosis of migraine without aura (MO) in 96.2% of cases; 54.3% of previously unclassifiable patients received a ‘new’ diagnosis. Conclusions: In conclusion, this study demonstrates that this new approach, proposed in the Appendix (A1.1), appears easy to apply and should improve the diagnostic standard of ICHD-II in young patients too.

19 Impact of co-morbid attention-deficit and hyperactivity disorder on cognitive function in male children with tourette syndrome: a controlled study

Objective Neuropsychological studies have highlighted the presence of specific cognitive deficits in two neurodevelopmental disorders affecting more commonly male children and often presenting in co-morbidity, Tourette syndrome (TS) and attention-deficit and hyperactivity disorder (ADHD). It is estimated that over 60% of children with TS present with co-morbid ADHD and the assessment of the relative contribution of tic symptoms and ADHD symptoms to cognitive problems in this patient population poses considerable challenges. We set out to determine the impact of co-morbid ADHD on cognitive function in male children with TS by conducting a controlled study with a comprehensive battery of neuropsychological tests. Method Participants included four groups of unmedicated age- and gender-matched children (mean age 10–12u2009years, range 6–15u2009years; 85%–100%u2009male gender): TS group (n=13u2009children with a diagnosis of uncomplicated or ‘pure’ TS), TS+ADHD group n=8u2009children with TS and co-morbid ADHD), ADHD group (39 children with ADHD in the absence of tics) and controls n=66u2009healthy children). All patients had a DSM-validated diagnosis and were recruited from the Child Neuropsychiatry Unit, Varese, Italy, whereas healthy controls were randomly selected from a pool of research volunteers from local schools. Following clinical assessment, each participant completed a standardised battery of neuropsychological tests: the Wechsler Intelligence Scale for Children-III (Block Design test, Vocabulary test), Italian Battery for ADHD (Walk-Don’t Walk test, Sustained Auditory Attention test, Stroop test, Sentence Completion test, Matching Familiar Figures test, Sustained Visual Attention test), Tower of London test, Corsi test, and Digit Span test. Results All patient groups reported significantly lower scores than healthy controls across the neuropsychological tests involving executive functions. A specific pattern in cognitive performances emerged, showing that the TS+ADHD group was the most severely affected, followed by the ADHD group and the TS group. This was particularly evident from the results of the tests assessing planning ability (Block Design test, Matching Familiar Figures test, Tower of London test), inhibitory function (Walk-Don’t Walk test, Stroop test, Matching Familiar Figures test), working memory (Sustained Auditory Attention test, Corsi test, Digit Span test) and visual attention (Walk-Don’t Walk test, Matching Familiar Figures test, Sustained Visual Attention test), but not auditory attention (Sustained Auditory Attention test). Conclusion Although problems in executive functions are more common in all patient groups than healthy controls, deficits in planning ability, inhibitory function, working memory and visual attention reported by children with TS appear to be more strongly related to the presence of co-morbid ADHD symptoms.

PA.12 A controlled study of mother–child agreement on behavioural symptoms in Tourette Syndrome

Aims Tourette syndrome (TS) is increasingly recognised as a neurodevelopmental disorder associated with a spectrum of behavioural problems. We conducted a case-control study to compare childrens self-report measures of behavioural symptoms with their parents ratings. Methods Our sample consisted of 28 patients (25 males; mean age 14.1u2005years; range 12.0–18.1u2005years) diagnosed with TS according to DSM-IV criteria, and a control group of 61 subjects randomly chosen among sex- and age-matched school peers. All parents completed the Child Behaviour Checklist (CBCL) and the Conners Parents Rating Scales-R (CPRS-R) for ADHD; all children completed the Youth Self Report (the self assessment version of CBCL). We carried out the following comparisons: TS parents vs controls parents (CBCL and CPRS-R); TS children vs control children (YSR); TS parents vs TS children (CBCL vs YSR), and controls’ parents vs control children (CBCL vs YSR). Results Children with TS show higher scores on various subscales of the CBCL compared with control subjects (eg, Total Problems: 70.0±8.6 vs 49.1±8.9, p<0.001; Internalising Scale: 58.1±9.7 vs 51.9±9.4, p=0.005; Externalising Scale: 56.5±9.1 vs 47.2±8.1, p<0.001) and consider themselves more symptomatic than sex- and age-matched school peers on the YSR Problems and Competences Scales (eg, Problem Scales: Tought 53.0±4.6 vs 52.2±6.2, p=0.027; Attention 61.2±10.1 vs 54.0±6.2, p=0.001; Competence Scales: Total 42.9±10.2 vs 49.9±9.3, p=0.002; Social 46.0±7.2 vs 48.8±7.2, p=0.033; 2.3±0.6 vs 2.6±0.4, p=0.002). However, their own reports of behavioural problems are significantly lower than their parents reports (eg, CBCL/YSR total scores: 53.4±11.2 vs 61.0±8.6, p=0.001). Conclusions Parents ratings (CBCL) identify more behavioural symptoms than childrens self-report measures (YSR). However, self-report measures such as the YSR are useful in highlighting the areas where children with TS feel more problematic than controls, including social interactions and relationships with peers.

PA.09 Self- and proxy-reported measures of behavioural symptoms in young patients with Tourette syndrome: A Controlled Study

Aims Tourette syndrome (TS) is a neurodevelopmental disorder characterised by multiple tics and associated with co-morbid behavioural problems (TS-plus). We investigated the usefulness of self-report vs parent- and teacher-report instruments in assisting the specialist assessment of TS-plus in a child/adolescent population. Methods Twenty-three patients diagnosed with TS (19 males; age 13.9±3.7u2005years) and 69 matched healthy controls participated in this study. All recruited participants completed a standardised psychometric battery, including the Childrens Depression Inventory (CDI), the Self Administrated Psychiatric Scales for Children and Adolescents (SAFA) and the State–Trait Anger Expression Inventory (STAXI). Parents completed the Child Behavior Checklist (CBCL) and Conners Parent Rating Scales–Revised (CPRS-R). Participants teachers completed the Conners Teacher Rating Scales–Revised (CTRS-R). Results were compared with similar data obtained from controls. Results Nineteen patients (82.6%) fulfilled DSM-IV-TR criteria for at least one co-morbid condition: obsessive-compulsive disorder (OCD, n=8; 34.8%); attention deficit-hyperactivity disorder (ADHD, n=6; 26.1%); OCD+ADHD (n=5; 21.7%). Scores on self-report instruments failed to show any significant differences between TS and controls. Most subscores of the CPRS-R, CTRS-R, and CBCL were significantly higher for the TS group than controls. The TS+OCD subgroup scored significantly higher than the TS-OCD subgroup on the CBCL-Externalising, Anxious/Depressed and Obsessive-Compulsive subscales. Conclusions Self-report instruments appear to have limited usefulness in assisting the assessment of the behavioural spectrum of young patients with TS. However, proxy-rated instruments differentiate TS populations from healthy subjects, and the CBCL can add relevant information to the clinical diagnosis of co-morbid OCD.

PA.10 Tolerability profile of Aripiprazole in adult patients with Tourette syndrome

Aims Little is known about the tolerability profile of Aripiprazole in the TS population. We set out to evaluate the prevalence of psychiatric and non-psychiatric adverse events (PAE and nPAE) of Aripiprazole through a retrospective chart review of adult patients seen at a specialist TS clinic. Methods We reviewed the clinical files of 29 patients (22 males; mean age 29.7±13.0) who had been started on Aripiprazole (median starting dose: 5.0 mg; median maintenance dose: 10.0u2005mg). Results Twenty-one patients (72.4%) developed adverse effects: 6 (20.7%) PAE (most common: anxiety); 17 (58.6%) nPAE (most common: sedation). Thirteen patients (44.8%) discontinued the Aripiprazole, 6 (20.7%) solely because of the severity of specific adverse effects (sedation, sleep problems, weight gain, nausea, lost appetite, tic worsening, hot flushes). When comparing patients with and without adverse effects, we found no differences in socio-demographic or clinical variables. However, there was a trend towards a statistically significant difference in Aripiprazole starting dose (p=0.07). Conclusions The most commonly reported adverse effects of Aripiprazole treatment in TS were sedation and sleep problems. In the majority of cases, adverse effects were not severe. In our clinical sample there were no predictors for poor tolerability. Slow titration is recommended in order to minimise the occurrence of adverse effects.

La relazione tra attenzione e abilità di lettura: studio comparativo in soggetti con Disturbo da Deficit di Attenzione/Iperattività e Dislessia in un campione di lingua italiana

Attention deficit-hyperactivity disorder (ADHD) and dyslexia are frequently co-occuring disorders. The objective of this study is to compare the neuropsychological profile of subjects with ADHD and Dyslexia in relation to the presence of the two disorders isolated on a sample of Italian language. The total sample (N = 39) was divided into three clinical groups: ADHD with Dyslexia (n=10), ADHD (n=11), Dyslexia (n=18) and a control group was recruited (n=20 ). The ADHD group presented more difficulties than the Dyslexia group in performance skills and in accuracy of attention abilities. In reading performance the Dyslexia group was slower than the ADHD group but faster than the comorbid group. There was no differences between the three clinical groups in the accuracy of reading. The results in the Conners have found more problems of hyperactivity in the ADHD group compared to the comorbid group in the Conners Teachers, and the Dyslexia group obtained a score higher than controls on several subscales of both the Conners Parents and Teachers. In agreement with previous studies, the present study confirmed the importance of characterizing the neuropsychological profile of each condition to clarify the relationship between ADHD and Dyslexia. On clinical emphasizes the need of a diagnostic-functional approach to the ADHD and Dyslexia assessment not to exclude comorbidity.