bluuebunny/crossref_metadata_2025_split huggingface dataset:
The Neurochemistry of Tourette Syndrome
Authors: Singer Harvey S. 
Published: September 2013

Abstract
The pathobiology of Tourette syndrome (TS) involves the complex and integrated cortico-striatal-thalamo-cortical (CSTC) circuits. This chapter systematically analyzes the involvement in TS of all the neurotransmitter systems relevant to CSTC circuits. A major role for dopamine continues to be the most consistently observed neurotransmitter change in this condition. Of the various dopaminergic hypotheses proposed, an alteration of the tonic-phasic neurotransmitter release system appears most viable. However, it remains highly likely that TS patients exhibit dysfunction in several neurotransmitter systems, although new evidence is warranted to better understand the dysfunction of non-dopaminergic systems, particularly serotonergic, glutamatergic, and GABAergic ones.
Immunity and Stress Response in Tourette Syndrome
Authors: Martino Davide 
Published: September 2013

Abstract
This chapter summarizes the evidence in favor of dysfunctional immune responses and stress responses in Tourette syndrome (TS). A generalized activation of immune-inflammatory mechanisms at a systemic level is supported by the analysis of lymphocyte subpopulations and peptide markers, such as neopterin. Co-variations between systemic levels of pro- and anti-inflammatory cytokines and clinical severity in TS suggests an interplay between immunity and behavioral abnormalities in these patients. Moreover, preliminary evidence supports a possible liability to autoimmunity in TS patients (e.g., decreased numbers of T-regulatory lymphocytes and abnormal immunoglobulin profiles). The transcriptome approach is likely to provide new evidence in favor of the contribution of immune-regulatory genes in TS. Finally, patients with TS exhibit an enhanced reactivity of the hypothalamic-pituitary-adrenal axis to external stressors, despite a preserved diurnal cortisol rhythm and normal restoration of the baseline activity of the axis following the acute stress response.
The Differential Diagnosis of Tic Disorders
Authors: Kurlan Roger 
Published: September 2013

Abstract
This chapter focuses on the differential diagnosis of tics and tic disorders. Tics need to be distinguished from other hyperkinetic movement disorders, such as chorea, myoclonus, and dystonia, as well as from movement disorders associated with psychiatric conditions (compulsions, sterotypies, mannerisms, habits). Tourette syndrome belongs to a family of primary tic disorders that include chronic motor or vocal tic disorder and transient tic disorder. However, tics may have different etiologies and can occur secondary to a number of conditions, including neurological disorders and medications, and as a psychogenic manifestation.
Social and Adaptive Functioning in Tourette Syndrome
Authors: Sukhodolsky Denis G. , Eicher Virginia W. , Leckman James F. 
Published: September 2013

Abstract
Many children, adolescents, and adults with Tourette syndrome have impairments across various domains of social and adaptive functioning, both as a result of the severity and particular features of tics and existing comorbidities. The relative contribution of tics and comorbid disorders to these impairments is under investigation. A thorough clinical assessment should also include standardized ratings of adaptive functioning. Psychosocial interventions for tics and associated behavioral disorders are constantly improving and show the potential to reduce symptom severity and associated functional impairment.
Psychoeducational Interventions: What Every Parent and Family Member Needs to Know
Authors: Lebowitz Eli R. , Scahill Lawrence 
Published: September 2013

Abstract
It is important for patients and families to understand the complex manifestations of Tourette syndrome so they can cope efficiently with tics and related symptoms. This chapter examines all the different features (temporal fluctuation in severity, susceptibility to contextual factors, academic and social implications) contributing to the complexity of tics and discusses psychoeducational interventions for patients and families. The practical and emotional challenges faced by parents of children with tics are another important aspect of psychoeducation. Children with tics also face educational and social difficulties in school and are often targets of peer victimization. Psychoeducation for school staff as well as peers may alleviate these difficulties. Adults with tics face discrimination and social victimization in the workplace and tend to be underemployed. Psychoeducation for employers and colleagues about tics as well as about the legal obligations toward individuals with disabilities may mitigate such discrimination.
Cognitive-Behavioral Treatment for Tics
Authors: Capriotti Matthew R. , Woods Douglas W. 
Published: September 2013

Abstract
Cognitive-behavioral treatment (CBT) is efficacious in decreasing the severity of motor and vocal tics. This chapter reviews the different CBT approaches; among them, Habit Reversal Training (HRT) and related treatments such as Comprehensive Behavioral Intervention for Tics have the most empirical support. The efficacy of HRT-based interventions was shown to be similar to that provided by some pharmacological interventions in children, adolescents, and adults with various types of tics (e.g., motor, vocal, simple, complex). Attempts to enhance HRT-based treatments by adding cognitively oriented components (e.g., cognitive therapy, acceptance work), however, have not been successful to date. Premonitory urges are very important in the tic-management strategies taught in CBT for Tourette syndrome, and changing patients’ response to them may be a key mechanism of change.
Surgical Treatment of Tourette Syndrome
Authors: Porta Mauro , Sassi Marco , Servello Domenico 
Published: September 2013

Abstract
This chapter presents an overview of the literature on the surgical approach to the treatment of Tourette syndrome (TS) and summarizes current recommendations for the use of this treatment. Attention is given to pending issues related to this invasive treatment, which will need to be addressed in future research. Some technical notes based on the authors’ longstanding experience using this treatment are given at the end of the chapter. Deep brain stimulation (DBS) for TS must still be considered an investigational procedure: it is not curative and in some cases does not improve tics. Drugs in TS are prescribed according to the patient’s symptoms, and although the same tailored approach is conceivable in choosing the best target for DBS, evidence is still insufficient to provide a sound clinical guidance for target selection. The ongoing technological advances in the surgical procedure (e.g., the introduction of the O-arm and other imaging modalities) may improve its safety and applicability in routine clinical practice. A robust treatment algorithm, based on evidence from randomized controlled trials and multidisciplinary experiences from tertiary referral centers, is lacking and is definitely needed.
Information and Social Support for Patients and Families
Authors: Müller-Vahl Kirsten R. 
Published: September 2013

Abstract
This chapter summarizes the current experience on information and psychoeducation, predominantly from a European perspective. Due to the wide spectrum of symptoms associated with Tourette syndrome (TS), patients with tics may seek doctors from different specialties, including not only neurologists and psychiatrists but also general practitioners, ear/nose/throat physicians, ophthalmologists, pediatricians, allergists, speech and language therapists, dermatologists, and even dentists. The delay to diagnosis has among its possible causes the insufficient knowledge and awareness of this condition among professionals. Psychoeducation should always be the first step in the treatment of patients with TS, informing decisions on the best management approach to take in the short, medium, and long term. With respect to treatment, a shared decision-making model is recommended where the physician provides tailored, unbiased, and up-to-date information about the benefits and disadvantages of alternative treatment choices, while the patient makes the decision about whether treatment will be initiated. Knowledge on potential restrictions and limitations regarding daily functioning represent an important aspect of the psychoeducational intervention. The economic burden of adult patients with TS is high, with indirect costs having a greater impact than direct costs; this represents an underinvestigated aspect of this condition.
Information and Support for Educators
Authors: Pruitt Sheryl K. , Packer Leslie E. 
Published: September 2013

Abstract
Students with tics or Tourette syndrome face numerous academic, behavioral, and social challenges. Most of the impairment appears due to associated disorders. Comprehensive psychoeducational and functional behavioral assessments enable the school team to develop appropriate accommodations and interventions. Providing a supportive environment, nurturing the child’s strengths and talents, and providing resources and support for the parents in service of the child can help the student overcome any challenges and have a successful school year. This chapter examines the various issues that teachers and educators should be familiar with when facing the social and academic challenges of Tourette syndrome patients.
Tourette Syndrome Support Organizations Around the World
Authors: Roper Louise , Hollenbeck Peter J. , Rickards Hugh E. 
Published: September 2013

Abstract
This chapter presents and discusses the results of a survey that collected extensive information on patient advocacy and support groups for Tourette syndrome (TS) worldwide. TS associations and support groups are in different stages of development in different countries, probably as a result of different self-help/advocacy cultural approaches. Funding derives from different sources, including the government. Only a few organizations are involved in political and scientific agenda setting (e.g., in directing and funding research, providing guidelines, and lobbying governments). Current austerity measures due to the worldwide financial crisis are likely to affect the future activities of patient support groups, which may need to adapt their operational strategies.
Psychogenic Nonepileptic Seizures
Authors: Duncan Roderick 
Published: September 2013

Abstract
Psychogenic nonepileptic seizures (PNES) were known to Gowers as ‘Hysteroid Attacks’, and featured in his 1901 monograph on epilepsy, though not directly in his ‘Borderlands’. We have now largely defined the observed semiology of PNES, most patients having events that consist of loss of response with tremor (high frequency low amplitute, or low frequency high amplitude) or with no movements at all. The subjective semiology is less well known. Only 10% of patients have epilepsy as well as PNES. PNES typically arise after the epilepsy, so epilepsy can be regarded as a predisposing factor. Many patients have a backgrounds of psychological trauma, also understood as a predisposing factor. The relationship between predisposition and causation remains uncertain. Therapeutically, the landscape is dominated by the fact that a substantial minority of patients stop having PNES with no intervention other than communication of the diagnosis, with or without withdrawal of anticonvulsant medication. One randomized controlled trial has showed an encouraging short-term effect of cognitive behavioural therapy, but the evidence for sustained effectiveness of psychological intervention remains observational.
Panic, Ictal Fear, and Hyperventilation
Authors: Schöndienst Martin , Lindemann Katrin 
Published: September 2013

Abstract
This chapter begins with an examination of Gowers’ attempt to describe “vagal and vaso-vagal attacks” – panic attacks in today’s diagnostic classifications – and his difficulties with concisely delineating a condition, which is now thought of as a “mental” disorder. Given that the interrelations between panic, hyperventilation and ictal fear are diverse and have to be explored clinically on a case-by-case basis, we then use several case reports to demonstrate how diagnostic access can be gained and how this relates to therapeutic dimensions. In the borderland of these conditions, every patient represents a ‘special scenario’ with idiosyncratic transitions between anxiety and epilepsy and sometimes hyperventilation, making it indispensable to consider every patient’s individual subjective symptoms. We illustrate this approach by working with short extracts from doctor-patient interactions. Patients’ own descriptions of their subjective experiences usually allow a clear definition of the idiosyncratic aspects of their condition. We then discuss the pathophysiological mechanisms of the different disorders. Further case reports highlight situations in which panic and hyperventilation are tightly interwoven with epileptic seizures. Our chapter concludes with suggestions for the management of this clinical scenario.
Hyperekplexia and Kinesigenic and Non-kinesigenic Dyskinesias
Authors: Henriksen Tove , Hjermind Lena E. 
Published: September 2013

Abstract
This chapter describes several very rare disorders, both sporadic and familial. The latter provide increasing insights into the genetic basis of movement disorders, which in turn help us gain a better understanding of their pathogenesis. The paroxysmal dyskinesias comprise a heterogeneous group of disorders sharing the paroxysmal occurrence of dyskinesia, which can manifest as choreoathetosis, ballism and dystonia. The history and, in some cases, genetic testing, help to make the diagnosis. Unfortunately, many patients are initially misdiagnosed as having a psychogenic disorder. A diagnostic workup including MRI of the brain is mandatory in sporadic cases. Carbamazepine is the drug of choice for the kinesigenic dyskinesias, and clonazepam for the non-kinesigenic forms.
Stereotypical Behaviors and Sudden Nonepileptic Behaviors in People with an Intellectual Disability
Authors: Thompson Rose , Waddington Keir , Kerr Michael 
Published: September 2013

Abstract
Stereotypical behaviors are repetitive rhythmical movements that appear to seem purposeful to the person performing them but are purposeless. They can involve any part of the body and develop in most children under the age of three, but may persist and develop into more complicated routines in individuals with intellectual disabilities. These rhythmical movements may be mistaken for seizures, especially in individuals with ID however they are not accompanied by altered consciousness and individuals may be distracted from performing them. These movements seem to be rewarding for the individuals that perform them, and individuals will continue in the absence of social reinforcement and in the presence of aversive stimuli. Some evidence suggests that they may be a consequence of dysfunction in the basal ganglia. They are cited as a core feature of many genetic syndromes such as Rett syndrome and in conditions associated with ID such as autism. Clinicians need to be aware on stereotypy and non-epileptic behaviors to avoid unnecessary treatment as they mimic seizures.
Episodic Dyscontrol, Rage, and Violence
Authors: Beran Roy G. 
Published: September 2013

Abstract
As epileptic seizures reflect uncontrolled activity of part or all of the brain, it is not surprising that seizures may provoke episodic dyscontrol, rage or violence, consequent to discharges from an appropriate brain region, such as the amygdala. There appears an overestimate of the amount of aggressive behavior associated with epilepsy, yet it has clearly been demonstrated via telemetric patient monitoring. It may occur ictally, postictally and interictally with the majority of reports describing post-ictal aggression or post-ictal psychosis, especially with temporal lobe epilepsy. The relevant neurobiology suggests peri-amygdala pathology, possibly with left or bilateral EEG and MRI abnormalities. PET studies have demonstrated temporal and frontal hypometabolism while the involvement of various neurotransmitters has been implicated. Associated familial behavioral problems have been reported together with comorbidities and underlying brain disorders. Treatment may include use of antiepileptic medications, atypical antipsychotic agents, non-pharmacological psychotherapy and, possibly, deep brain stimulation.
Personality and Personality Disorder
Authors: Tebartz Ludger , Elst Van 
Published: September 2013

Abstract
When Gowers gave his famous lectures on the borderland of epilepsy the concept of personality and personality disorder did not feature in the theoretical framework and repertoire of science. Thus at the beginning of this chapter the history and development of the concepts of person, personality and personality disorder will be described. This description will focus especially on the conceptual dichotomy between primary personality disorder and organic personality disorders, for example in the context of epilepsy. Some personality disorders, for example emotional-unstable personality disorder, are frequent in a primary (psychiatric) context as well as in the context of epilepsy. We then present a case of an apparently primary Borderline Personality Disorder and demonstrate how epilepsy-associated neuronal network instability may produce the clinical picture of a personality disorder. Based on this case description this chapter will present an etiopathogenetic model based on local area network inhibition. It proposes that a mixture of pathophysiological mechanisms and psychoreactive coping styles explain the development of most personality disorders.
Sequence selectivity of the cleavage sites induced by topoisomerase I inhibitors: a molecular dynamics study
Authors: Siu Fung-Ming , Pommier Yves 
Published: September 2013

Abstract
Topoisomerase IB (Top1) inhibitors, such as camptothecin (CPT), stabilize the Top1-DNA cleavage complex in a DNA sequence-dependent manner. The sequence selectivity of Top1 inhibitors is important for targeting specific genomic sequences of therapeutic value. However, the molecular mechanisms underlying this selectivity remain largely unknown. We performed molecular dynamics simulations to delineate structural, dynamic and energetic features that contribute to the differential sequence selectivity of the Top1 inhibitors. We found the sequence selectivity of CPT to be highly correlated with the drug binding energies, dynamic and structural properties of the linker domain. Chemical insights, gained by per-residue binding energy analysis revealed that the non-polar interaction between CPT and nucleotide at the +1 position of the cleavage site was the major (favorable) contributor to the total binding energy. Mechanistic insights gained by a potential of mean force analysis implicated that the drug dissociation step was associated with the sequence selectivity. Pharmaceutical insights gained by our molecular dynamics analyses explained why LMP-776, an indenoisoquinoline derivative under clinical development at the National Institutes of Health, displays different sequence selectivity when compared with camptothecin and its clinical derivatives.
Preliminary study of disfluency in school‐aged children with autism
Authors: Scaler Scott Kathleen , Tetnowski John A. , Flaitz James R. , Yaruss J. Scott 
Published: September 2013

AbstractBackgroundIn recent years, there has been increased identification of disfluencies in individuals with autism, but limited examination of disfluencies in the school‐age range of this population. We currently lack information about whether the disfluencies of children with autism represent concomitant stuttering, normal disfluency, excessive normal disfluency, or some form of disfluency unique to the school‐age population of children with autism.AimsThis paper explores the nature of disfluencies in school‐aged children with autism in comparison with matched children who stutter and controls. It explores stuttering‐like disfluencies, non‐stuttering‐like disfluencies and word‐final disfluencies.Methods & ProceduresThis study compared disfluency patterns in 11 school‐aged children with Asperger's syndrome (AS), 11 matched children who stutter (CWS), and 11 matched children with no diagnosis (ND). Analyses were based on speech samples collected during an expository discourse task.Outcomes & ResultsResults reveal statistically significant differences between children with AS and CWS and between children with AS and those with ND for the percentage of words containing stuttering‐like disfluencies. In the AS group, four out of 11 (36%) met the common diagnostic criteria for a fluency disorder. Disfluencies in the AS group differed qualitatively and quantitatively from the CWS, and included a larger distribution of word‐final disfluencies.Conclusions & ImplicationsThis study provides initial data regarding patterns of disfluency in school‐aged children with AS that, with careful consideration and the cautious application of all findings, can assist therapists in making more evidence‐based diagnostic decisions. Findings offer evidence that when working with children with AS, disfluencies both similar and dissimilar to those of CWS may be identified in at least a subset of those with AS. Therefore, children with AS should be screened for fluency disorders during their initial evaluation and treated if it is determined that the fluency disorder negatively impacts the effectiveness of communication.
What do we know about tocolytic effectiveness and how do we use this information in guidelines? A comparison of evidence grading
Authors: Roos C , Borowiack E , Kowalska M , Zapalska A , Mol BW , Mignini L , Meads C , Walczak J , Khan KS ,   the EBM CONNECT collaboration
Published: September 2013

BackgroundEvidence summaries of tocolytic effectiveness assign quality levels based on a single dimension: the study design. The Grading of Recommendations Assessment, Development and Evaluation (GRADE) system takes into account several domains, including limitations of the study design and ranking the importance of outcomes.ObjectivesThe aim of the study was to compare the quality of evidence according to GRADE with the quality as described by existing guidelines.Search strategyA practitioner survey to rank the importance of outcomes and a systematic review were conducted. For the systematic review, we searched Medline, Embase, and DARE databases from inception to December 2010 using the terms ‘tocolytics’ and ‘threatened preterm labour’, without any language restrictions.Selection criteriaInclusion criteria for the review were randomised controlled trials comparing tocolytics with either placebo or betamimetics.Data collection and analysisThe review and survey teams worked independently. Evidence ratings according to GRADE were performed.Main resultsThe majority of the survey respondents thought that it was important to use tocolytics to buy the time needed for steroids to promote fetal lung maturation and to allow in utero transfer. Nearly 80% of ‘high’ ratings in guidelines were downgraded as a result of deficiencies identified by GRADE.Authors’ conclusionsWe propose a move away from the use of evidence rating systems reliant solely on study design, as they have a propensity towards strong recommendations when the underlying evidence is weak.