RESUMO
In 2011 a working group of the European Society for the Study of Tourette Syndrome (ESSTS) has developed the first European assessment guidelines for Tourette syndrome (TS). Now, we present an updated version 2.0 of these European clinical guidelines for Tourette syndrome and other tic disorders, part I: assessment. Therefore, the available literature has been thoroughly screened, supplemented with national guidelines across countries and discussions among ESSTS experts. Diagnostic changes between DSM-IV and DSM-5 classifications were taken into account and new information has been added regarding differential diagnoses, with an emphasis on functional movement disorders in both children and adults. Further, recommendations regarding rating scales to evaluate tics, comorbidities, and neuropsychological status are provided. Finally, results from a recently performed survey among ESSTS members on assessment in TS are described. We acknowledge that the Yale Global Tic Severity Scale (YGTSS) is still the gold standard for assessing tics. Recommendations are provided for scales for the assessment of tics and psychiatric comorbidities in patients with TS not only in routine clinical practice, but also in the context of clinical research. Furthermore, assessments supporting the differential diagnosis process are given as well as tests to analyse cognitive abilities, emotional functions and motor skills.
Assuntos
Transtornos de Tique , Tiques , Síndrome de Tourette , Adulto , Criança , Comorbidade , Manual Diagnóstico e Estatístico de Transtornos Mentais , Humanos , Transtornos de Tique/diagnóstico , Síndrome de Tourette/diagnóstico , Síndrome de Tourette/epidemiologiaRESUMO
Part II of the European clinical guidelines for Tourette syndrome and other tic disorders (ECAP journal, 2011) provides updated information and recommendations for psychological interventions for individuals with tic disorders, created by a working group of the European Society for the Study of Tourette Syndrome (ESSTS). A systematic literature search was conducted to obtain original studies of psychological interventions for tic disorders, published since the initial European clinical guidelines were issued. Relevant studies were identified using computerized searches of the MEDLINE and PsycINFO databases for the years 2011-2019 and a manual search for the years 2019-2021. Based on clinical consensus, psychoeducation is recommended as an initial intervention regardless of symptom severity. According to a systematic literature search, most evidence was found for Habit Reversal Training (HRT), primarily the expanded package Comprehensive Behavioral Intervention for Tics (CBIT). Evidence was also found for Exposure and Response Prevention (ERP), but to a lesser degree of certainty than HRT/CBIT due to fewer studies. Currently, cognitive interventions and third-wave interventions are not recommended as stand-alone treatments for tic disorders. Several novel treatment delivery formats are currently being evaluated, of which videoconference delivery of HRT/CBIT has the most evidence to date. To summarize, when psychoeducation alone is insufficient, both HRT/CBIT and ERP are recommended as first-line interventions for tic disorders. As part of the development of the clinical guidelines, a survey is reported from ESSTS members and other tic disorder experts on preference, use and availability of psychological interventions for tic disorders.
Assuntos
Transtornos de Tique , Tiques , Síndrome de Tourette , Terapia Comportamental , Humanos , Intervenção Psicossocial , Tiques/terapia , Síndrome de Tourette/psicologia , Síndrome de Tourette/terapiaRESUMO
Genetic studies in Tourette syndrome (TS) are characterized by scattered and poorly replicated findings. We aimed to replicate findings from candidate gene and genome-wide association studies (GWAS). Our cohort included 465 probands with chronic tic disorder (93% TS) and both parents from 412 families (some probands were siblings). We assessed 75 single nucleotide polymorphisms (SNPs) in 465 parent-child trios; 117 additional SNPs in 211 trios; and 4 additional SNPs in 254 trios. We performed SNP and gene-based transmission disequilibrium tests and compared nominally significant SNP results with those from a large independent case-control cohort. After quality control 71 SNPs were available in 371 trios; 112 SNPs in 179 trios; and 3 SNPs in 192 trios. 17 were candidate SNPs implicated in TS and 2 were implicated in obsessive-compulsive disorder (OCD) or autism spectrum disorder (ASD); 142 were tagging SNPs from eight monoamine neurotransmitter-related genes (including dopamine and serotonin); 10 were top SNPs from TS GWAS; and 13 top SNPs from attention-deficit/hyperactivity disorder, OCD, or ASD GWAS. None of the SNPs or genes reached significance after adjustment for multiple testing. We observed nominal significance for the candidate SNPs rs3744161 (TBCD) and rs4565946 (TPH2) and for five tagging SNPs; none of these showed significance in the independent cohort. Also, SLC1A1 in our gene-based analysis and two TS GWAS SNPs showed nominal significance, rs11603305 (intergenic) and rs621942 (PICALM). We found no convincing support for previously implicated genetic polymorphisms. Targeted re-sequencing should fully appreciate the relevance of candidate genes.
Assuntos
Saúde da Família , Polimorfismo de Nucleotídeo Único/genética , Transtornos de Tique/genética , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Estudo de Associação Genômica Ampla , Genótipo , Humanos , Desequilíbrio de Ligação , Masculino , Proteínas Associadas aos Microtúbulos/genética , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Triptofano Hidroxilase/genética , Adulto JovemRESUMO
This study explored the mental health needs and strengths of young people (aged 11-18 years) living on the remote island of Saint Helena (SH). 24 young people and their carers completed standardised inventories assessing mental health and resilience, of whom 15 of the young people and their carers participated in semi-structured interviews enquiring into mental health awareness, contributing factors to young people's mental health and resilience, as well as experience with local mental health services. Descriptive data were reported based on the quantitative measures and thematic analysis was applied to the interview transcripts. A number of young people were found to meet criteria for mental health problems while they showed high levels of resilience. The themes derived from young people's interviews were broadly centred around mental health boosters, including personal successes, social interactions, engagement in pleasurable activities and use of anxiety management strategies; and around limitations of living in SH in terms of limited resources and difficulty in maintaining trust in the community. From the carers, the themes revolved around awareness of mental health needs and strengths in young people, perceived barriers to access support mainly due to apprehensions around stigma and anonymity. Recommendations for improvement of mental health provision are made.
Limited research has been carried out on the mental health of young people who live in remote geographical places. This study explored mental health and resilience in a group of young people living on Saint Helena Island. A total of 24 young people and their carers completed questionnaires assessing mental health and resilience and within the group 15 young people and their carers completed interviews with a researcher. We used the scores on the questionnaires to describe the characteristics of the young people and we analysed the interviews for themes denoting common patterns in attitudes, perceptions and behaviours. Young people and their carers reported mental health problems and needs but, positively, high levels of resilience too in young people. The themes derived from young people's interviews were broadly centred around mental health boosters, including personal successes, social interactions, engaging in pleasurable activities and using anxiety management strategies; and around limitations of living in Saint Helena Island in terms of limited resources and difficulty in maintaining trust in the community. From the side of the carers, the generated themes revolved around awareness of mental health needs and strengths in young people through their observed behaviours, perceived barriers to accessing mental health support mainly due to concerns around stigma and maintaining anonymity, and recommendations for improvement of mental health service provision involving further training and psychoeducation. Implications for future research are discussed such as why the number of people who consented to participate was small and how the findings from the current study could be used to inform and improve child and adolescent mental health service provision on Saint Helena Island.
RESUMO
Pre- and perinatal complications have been implicated in the onset and clinical expression of Tourette syndrome albeit with considerable inconsistencies across studies. Also, little is known about their role in co-occurring obsessive-compulsive disorder (OCD) and attention-deficit/hyperactivity disorder (ADHD) in individuals with a tic disorder. Therefore, we aimed to investigate the role of pre- and perinatal complications in relation to the presence and symptom severity of chronic tic disorder and co-occurring OCD and ADHD using data of 1113 participants from the Tourette International Collaborative Genetics study. This study included 586 participants with a chronic tic disorder and 527 unaffected family controls. We controlled for age and sex differences by creating propensity score matched subsamples for both case-control and within-case analyses. We found that premature birth (OR = 1.72) and morning sickness requiring medical attention (OR = 2.57) were associated with the presence of a chronic tic disorder. Also, the total number of pre- and perinatal complications was higher in those with a tic disorder (OR = 1.07). Furthermore, neonatal complications were related to the presence (OR = 1.46) and severity (b = 2.27) of co-occurring OCD and also to ADHD severity (b = 1.09). Delivery complications were only related to co-occurring OCD (OR = 1.49). We conclude that early exposure to adverse situations during pregnancy is related to the presence of chronic tic disorders. Exposure at a later stage, at birth or during the first weeks of life, appears to be associated with co-occurring OCD and ADHD.