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Tic disorders are common neurodevelopmental conditions in children and young people. However, although evidence-based support and interventions exist, families often struggle to access these for their children, in part due to a lack of assessment and treatment pathways in UK healthcare services. This article describes a quality improvement project involving the development and implementation of a tics pathway in a generic children and young people’s mental health (CYP MH) service in the UK. This process included building appropriate knowledge, skills and confidence in the team; designing and implementing a pathway, including assessment/diagnosis, provision of psychoeducation/resources, as well as further group and individual treatment where needed; and reflecting on and adapting the process with the support of specialist consultation. The introduction of the tics pathway has resulted in reduced waiting times in all areas of the pathway for those referred to the service, including assessment, diagnosis and the provision of evidence-based support. Feedback from children, young people and families has been very positive. This paper demonstrates that with minimal training and consultation, it is possible for a generic CYP MH service to assess and provide evidence-based resources and support for those referred with tic disorders. It is hoped this paper will provide a model of service delivery that can be utilised by other services, enabling them to support families within their local communities and make a meaningful difference in the lives of children, young people and their families.
Key learning aims
(1) To raise awareness about the prevalence of tic disorders in children and young people, and the existence of effective evidence-based support and treatment.
(2) To highlight challenges faced by families seeking timely and local diagnosis and support.
(3) To provide a model of service delivery for the evidence-based assessment and treatment of tic disorders in a generic CYP MH service that can be utilised by other services.
(4) To demonstrate that the development and implementation of a tics pathway can be straightforward, cost-effective, and hugely beneficial to children, young people and families.
(5) To inspire other CYP MH services to provide support of this kind, thus increasing the provision of timely support for children, young people and families with tic disorders in their local communities.
This study aimed to examine the experiences of self-identification, diagnosis, and support for adults with tic disorders (including Tourette Syndrome) in the United Kingdom (UK).
Background:
Traditionally viewed as a neurological disorder of childhood-onset, tic disorders have been observed to remit or persist, often in a milder form, into adulthood. However, the reappearance of problematic symptoms after periods of asymptomatic latency might be more common than previously recognized. The medical exposure and standardization of clinical practice for primary adult-onset or non-typical adult-presenting cases of tic disorders is currently limited and poses barriers to diagnosis.
Methods:
An online survey of 42 adults with self-identified tic symptomology explored their tic recognition and journey of attaining a confirmed diagnosis and/or self-identifying after the age of 18 in the UK.
Findings:
No significant differences were found between adult and childhood-onset cases. Elevated scores on the Acceptance and Action Tic Specific Questionnaire (AAQ-T) correlated with higher overall frequency, intensity, and severity of motor tics from the Adult Tic Questionnaire (ATQ). The AAQ-T was also shown to negatively correlate with increasing age. Nearly all adults expressed dissatisfaction with the diagnostic process, especially regarding information provided and lack of post-diagnostic support. Those who self-identified quoted fear of dismissal, long waiting lists and lack of understanding from clinicians as reasons for not seeking a formal diagnosis. Overall, the results emphasize the importance for a standardized improved comprehension of tic conditions in healthcare including how to best support adults seeking recognition later in life.
This chapter provides an overview of neurodevelopmental disorders (NDDs) in children and young people. The definition and classification of NDDs is discussed, including key differences between ICD-10 and ICD-11 and the problematic use of language in diagnostic classifications, which is at odds with the social model of disability. Important stages of a multidisciplinary assessment of NDDs include a detailed developmental history, a psychosocial history, observation of the child, an assessment of the child’s communication and learning and supplementary rating scales. The role of professionals such as Community Paediatricians, Speech and Language Therapists, Occupational Therapists, teachers and Educational Psychologists is highlighted. Features of the main NDDs are outlined, including Autism Spectrum Disorder, Attention Deficit Hyperactivity Disorder, Specific Disorders of Development and Language and Tic disorders. Finally, an overview of treatment approaches and their evidence base is explored.
Howard CH Khoe, National Psychiatry Residency Programme, Singapore,Cheryl WL Chang, National University Hospital, Singapore,Cyrus SH Ho, National University Hospital, Singapore
Chapter 23 covers the topic of attention deficit hyperactivity disorder(ADHD). Through a case vignette with topical MCQs for consolidation of learning, readers are brought through the diagnosis to management of a patient with attention deficit hyperactivity disorder. Topics covered include symptoms and diagnosis of ADHD, investigations, learning difficulties, management of ADHD, adverse side effects of treatment, management of adverse effects from medications and tic and stereotypy.
Medicinal cannabis has been trialled for Tourette syndrome in adults, but it has not been studied in adolescents. This open-label, single-arm trial study evaluated the feasibility, acceptability and signal of efficacy of medicinal cannabis in adolescents (12–18 years), using a Δ9-tetrahydrocannabinol:cannabidiol ratio of 10:15, with dose varying from 5 to 20 mg/day based on body weight and response. The study demonstrated feasibility of recruitment, acceptability of study procedures, potential benefits and a favourable safety profile, with no serious adverse events. Commonly reported adverse events were tiredness and drowsiness, followed by dry mouth. Statistically significant improvement was observed in parent and clinician reports on tics (paired t-test P = 0.003), and behavioural and emotional issues (paired t-test P = 0.048) and quality of life as reported by the parent and young person (paired t-test P = 0.027 and 0.032, respectively). A larger-scale, randomised controlled trial is needed to validate these findings.
Tics are brief, sudden, non-rhythmic, repetitive movements. Tics can be motor or vocal. Further, both motor and vocal tics can be either simple or complex. Simple tics typically involve only one group of muscles and are brief and meaningless, whereas complex tics may last longer and appear more purposeful. Tic disorders usually begin in childhood and are classified according to the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) into four groups: (1) provisional tic disorder, (2) chronic motor or vocal tic disorder, (3) Tourette disorder (or Gilles de la Tourette syndrome), (4) tic disorder not otherwise specified. As tics can resemble almost any other movement disorder, phenotypic analysis alone is insufficient and patients must be questioned whether the execution is preceded by a premonitory sensation (urge to do, urge to move) and whether a temporary control of the movement can be achieved. Also, relief following execution of the tic is frequently reported. There are no biomarkers available for tics and diagnosis therefore remains strictly clinical.
Although movement is largely generated from the primary motor cortex, what movement to make and how to make it is influenced from the entire brain. External influences from the environment come from sensory systems in the posterior part of the brain, and internal influences, such as homeostatic drive and reward, from the anterior part. A movement is voluntary when a person’s consciousness recognizes it to be so because of proper activation of the agency network. Behavioral movement disorders can be understood as dysfunction of these mechanisms. Apraxia and task specific dystonia arise from disruption of parietal–premotor connections. Tics arise from a hyperactive limbic system. Functional movement disorders may also have an origin in abnormal limbic function and are believed to be involuntary due to dysfunction of the agency network. In Parkinson’s disease, bradykinesia comes from insufficient basal ganglia support to the anterior part of the brain.
This chapter discusses the clinical approach to a patient with a movement disorder, based on the phenomenology of that particular disorder. It summarizes the definitions of the most prevalent movement disorders and highlights particular clinical aspects that may help narrow down the differential diagnosis.
Psychiatric illness may be associated with objective or subjective motor disorders. This chapter is chie?y devoted to objective motor disorders, but subjective motor disorders may also occur. It is difficult to classify motor disorders because although clear-cut individual motor signs (such as stereotypies) can be treated as if they were neurological symptoms, it is much more difficult to classify more complicated patterns of behaviour. Nonetheless, motor disorders can be broadly grouped into the following categories: (a) disorders of adaptive movements; (b) disorders of non-adaptive movements; (c) motor speech disturbances; (d) disorders of posture; (e) abnormal complex patterns of behaviour; and (f) movement disorders associated with antipsychotic medication. This chapter explores and explains these different categories of motor disorder in the context of psychiatric illness. The chapter concludes with suggested questions for eliciting specific symptoms in clinical practice, in addition to standard history-taking, mental state examination and physical examination.
Tics are brief, sudden, movements (motor tics) or sounds (phonic tics) that are intermittent but may be repetitive and stereotypic (Jankovic et al., 2022). Although tics often spontaneously improve after childhood, they may persist into adulthood and become associated with a variety of comorbid disorders such as attention deficit disorder and obsessive–compulsive disorder. Tourette’s syndrome (TS), considered a genetic and neurodevelopmental disorder, is the most common cause of chronic tics. Motor and phonic tics consist of either simple or complex movements that may be seemingly goal directed. Motor tics may be rapid (clonic) or more prolonged. Many patients exhibit suggestibility and may have a compulsive component, sometimes perceived as an “urge” or a need to perform the movement or sound repetitively until it feels “just right.” Although tics are often considered relatively benign, many patients with TS have severe or disabling tics. “Whiplash” tics can produce disabling compressive myelopathy, and therefore need to be treated early and aggressively. When oral medications fail to provide satisfactory relief of tics, local chemodenervation with botulinum toxin (BoNT) offers the possibility of relaxing the muscles involved in focal tics without causing undesirable systemic side effects.
Tourette syndrome (TS) is a neurological condition; its etiology is not yet fully understood. Cognitive behavioural therapy with habit reversal training is the recommended first-line treatment, but is not effective in all patients. This is the first report examining the usefulness of decoupling, a behavioural self-help treatment originally developed for patients with body-focused repetitive behaviours, in a patient with TS.
Method:
Patient P.Z. showed 10 motor and three vocal tics on the Adult Tic Questionnaire (ATQ) before treatment. He was taught decoupling by the first author.
Results:
The application of decoupling led to a reduction of P.Z.’s eye tics, which was one of his first and most enduring and severe tics. It was not effective for other areas. Quality of life and depression improved, which P.Z. attributed to the improvement of his tics.
Conclusion:
Decoupling may be adopted as an alternative, when habit reversal training is not feasible. Future research, preferably using a controlled design with a large sample, may elucidate whether decoupling is only effective for tics relating to the eyes, the most common symptom in tic disorder/TS, or whether its effects extend to other symptoms.
Chapter 20 explains what neurodevelopmental conditions are. We describe the huge variability in presentation and severity of neurodevelopmental conditions. We give examples of common neurodevelopmental conditions and explain tics disorders (including Tourette’s) and autism spectrum conditions in more detail. ADHD is discussed in more detail in the next chapter. We discuss how autism is assessed and managed and what caregiving adults can do to help autistic children and young people.
A 9-year-old girl under pediatric follow-up since the age of 4 years after diagnosis of neurofibromatosis type 1
Objectives
To present a case of neurofibromatosis and ADHD comorbidity to raise awareness of the importance of screening for neurodevelopmental disorders.
Methods
Case report and literature review
Results
The patient had an adequate control and follow-up of the disorder with periodic check-ups and magnetic resonance imaging during her follow-up. She was referred due to symptoms of inattention with failure to perform exams and impulsivity in interpersonal relationships, affecting her social functioning. In addition, the patient presented simple motor tics of eye contraction and shoulder elevation. The patient was diagnosed with attention deficit hyperactivity disorder together with tic disorder. She was treated with stimulant medication with worsening of tics and marked hyporexia. Therefore, medication with guanfacine was started up to 4 mg per day, adjusted by weight. With this dose there was a control of the tics, with improvement of the symptoms of inattention and impulsivity. In different spheres an improvement in their functionality was observed, with improvement in mood, self-esteem and academic performance.
Conclusions
Neurofibromatosis type 1 is a rare monogenic disorder with a varied presentation (ophthalmologic, dermatologic and predisposition to tumor development). Patientshave been shown to present with symptoms of inattention and executive function impairment, along with other neurodevelopmental disorders such as autism spectrum disorders, learning disabilities or intellectual disability. The literature shows that up to 60% of them has ADHD criteria.
To better understand current practices of U.S.-based physicians in the management of Tourette syndrome (TS) and identify gaps that may be addressed by future education.
Methods
Two survey instruments were developed to gather data on management of TS and perceptions from physicians and caregivers of children with TS. The clinician survey was developed in consultation with a TS physician expert and utilized clinical vignettes to assess and quantify practice patterns. The caregiver survey was adapted from the clinician survey and other published studies and gathered details on diagnosis, treatment, and perceptions regarding management.
Results
Data included responses from 138 neurologists (including 57 pediatric neurologists), 162 psychiatrists (including 42 pediatric psychiatrists), and 67 caregivers. Most (65%) pediatric neurologists rely solely on clinical findings to make a diagnosis, whereas the majority of other specialists utilize additional testing (eg, neuroimaging, lab testing, and genetics). Most psychiatrists (96%) utilize standardized criteria to make a diagnosis, whereas 22% of neurologists do not. Many physicians (44% of psychiatrists and 20% of neurologists) use pharmacotherapy to treat a patient with “slightly bothersome” tics and no functional impairment, whereas caregivers favored behavioral therapy. Most (76%) caregivers preferred to make the final treatment decision, whereas 80% of physicians preferred equal or physician-directed decision-making.
Conclusions
This study provides insight into practice patterns and perceptions of U.S.-based neurologists and psychiatrists in managing TS. Results highlight the potential value of physician education, including diagnostic approach, tic management and monitoring, involvement of caregivers in decision-making, and updates on TS management.
Tourette syndrome (TS) is a neurodevelopmental disorder characterized by the presence of motor and phonic tics. It is at least three times more common in males compared with females; however, the clinical phenomenology between sexes has not been fully examined. We aimed to contrast the clinical features between males and females with TS and chronic tic disorder.
Methods
We studied 201 consecutive patients fulfilling the diagnostic criteria for TS, persistent (or chronic) motor and vocal tic disorder and provisional tic disorder that were considered within the TS spectrum disorder. We performed blinded evaluations of video-recordings and retrospectively reviewed the clinical charts of all patients.
Results
Age ranges between 4 and 65 years. Males represented 77.6% of patients in the cohort. Overall, no differences were observed in the frequency, distribution and complexity of tics between sexes, except for a higher frequency of attention-deficit/hyperactivity disorder (ADHD) (P = .003) among males. Patients younger than 18-years old, in addition to a higher frequency of ADHD (P = .026), males had a statistically higher frequency of complex motor tics (P = .049) and earlier age at onset (P = .072) than females in the multivariate regression analysis. However, these differences were lost in patients older than 18 years, due to increased complexity of tics in females with aging.
Conclusions
A sexual dimorphism was observed between patients with TS mainly before age of 18 years, suggesting an earlier onset of some types of tics and ADHD in males compared to females.
Tourette’s syndrome is a neuropsychiatric disorder marked by motor and phonic tics frequently associated with psychiatric comorbidities, beginning in childhood. While most cases improve or resolve with age, some are refractory.
Objectives
To review new strategies for the management of Tourette’s Syndrome, following an outpatient clinical vignette.
Methods
We performed a review based on the PubMed® database.
Results
A 50-years-old female patient with a long-term outpatient psychiatric follow-up presented with motor tics appearing in adolescence, including winking and facial grimacing, as well as episodes of coprolalia. Over the years, she developed an anxiety disorder and social isolation. In addition to psychological therapy, pharmacological therapy had already been approached with the use alpha-adrenergic agonists and several antipsychotics, such as risperidone and aripiprazole, with the patient showing only partial response to pimozide. In Tourette’s syndrome, the therapy must be adequate to the patient’s individual needs. Emerging treatments for refractory cases, such as anticonvulsants, cannabinoids or antiglutamatergic drugs have been the target of several studies. Botulinum toxin injections are particularly effective in patients with focal motor tics and complex phonic tics. Non-pharmacological treatment options, such as electroconvulsive therapy and deep brain stimulation may prove effective in some cases.
Conclusions
A significant proportion of patients fail to respond to conventional strategies. Thus, new pharmacological and non-pharmacological therapies are on the horizon and may represent an important step in treatment algorithms for refractory cases in the future.
A 15-year-old man who comes to the consultation referred from neurology for a poorly progressive tic disorder that is resistant to treatment. This is a patient with no relevant medical history. He has good academic performance, without symptoms of inattention, hyperactivity or impulsivity. He does not present buccophonatory tics
Objectives
To Show guanfacine as a efficient treatment fot tics disorder
Methods
Case report
Results
He has presented complex motor tics as cervical contractions that have had to receive physiotherapeutic treatment. He also presents simple ocular tics. The patient at our evaluation is on a 4 mg dose of pimozide without response. He was previously on risperidone. It was decided to start treatment with guanfacine up to 5 mg with reduction of pimozide, to 1 mg. The patient with this dose adjustment shows a notable improvement in the frequency and intensity of the tics, both cervical and ocular. The patient also refers to a feeling of being calmer and being able to face stressful situations such as being exposed to social relationships, intervening more in class without increasing their anxiety levels.
Conclusions
Guanfacine is a selective alpha-2a adrenergic receptor agonist that has an indication for attention deficit hyperactivity disorder. Like its precursor, clonidine, there is more and more literature that proposes this medication and others for ADHD as useful drugs in pathologies such as tic disorder. It has a safe use profile, which with progressive adjustment and hardly any side effects is placed as a treatment to take into account in this pathology.
Evidence from pre-clinical infrahuman investigations, open-label clinical trials, and a single controlled trial found acute nicotine treatment potentiated up to 4 weeks neuroleptic-induced reductions of dyskinetic symptoms characterizing Tourette’s syndrome (TS). Given the attentional disturbances associated with this syndrome, and the improvements in attentional processes reported with nicotine, this randomized, double-blind, placebo-controlled trial examined the acute (4 h) and sustained (2 weeks) effects of a single dose of transdermal nicotine on clinical (i.e., tics), attentional (continuous performance task, event-related potentials, patient and parental reports) and behavioral symptoms in 23 children and adolescents with TS receiving neuroleptic treatment. In the 14 evaluable patients with complete primary efficacy data, nicotine (compared to placebo) failed to alter symptoms at 4 h but counteracted ERP-P300 signs of diminished attention seen 2 weeks following placebo treatment. Secondary efficacy measures, including patient self-reports and parental ratings, found nicotine to reduce complex tics and improve behaviors related to inattention. Additional work with intermittent dosing schedules is required to characterize optimal clinical and cognitive effects with nicotine treatment.
The addition of a dose-escalated regimen of transdermal nicotine patches (TNP) improved tics of a non-smoker patient with Tourette's syndrome, whose tics did not respond to sulpiride. This improvement, as assessed by the Yale Global Tic Severity Scale, lasted for up to 8 weeks, but not 16 weeks. An explanation for the efficacy of TNP is presented.
Introduite en 1980 dans le DSM III, la maladie de Gilles de la Tourette figure depuis 2013 dans le DSM 5 parmi les troubles neurodéveloppementaux moteurs liés à des tics. Si la récente évolution nosologique du trouble intègre les dernières avancées dans la connaissance de la maladie, ses critères diagnostiques sont restés globalement inchangés. Or, les classifications diagnostiques actuelles ne rendent pas explicitement compte des nombreuses comorbidités psychiatriques de la maladie, pourtant fondamentales dans sa caractérisation. Ainsi, les données récentes de la littérature retrouvent dans près de 90 % des cas des comorbidités psychiatriques associées au Tourette . Les comorbidités psychiatriques les plus communément associées sont le trouble déficitaire de l’attention avec ou sans hyperactivité (TDA/H) dans 60 à 80 % des cas, les troubles obsessionnels compulsifs dans 11 à 80 % des cas , puis les troubles du contrôle des impulsions , les troubles anxiodépressifs et de la personnalité. Les enfants souffrant de Gilles de la Tourette présentent quant à eux fréquemment des troubles des conduites et des apprentissages. Depuis une dizaine d’années environ, la prise en compte de la complexité phénotypique du tableau clinique a vu émerger le concept de « spectre » psychopathologique du tableau de Gilles de la Tourette , englobant des phénomènes moteurs et des symptômes comportementaux. Cette présentation abordera la complexité clinique de la maladie à travers le concept de « spectre » dont l’implication dans la prise en charge clinique des patients est majeure.