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1.
Eur J Neurol ; 30(4): 902-910, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36587367

RESUMO

BACKGROUND AND PURPOSE: In 2020, health professionals witnessed a dramatic increase in referrals of young people with rapid onset of severe tic-like behaviours. We assembled a working group to develop criteria for the clinical diagnosis of functional tic-like behaviours (FTLBs) to help neurologists, pediatricians, psychiatrists, and psychologists recognize and diagnose this condition. METHODS: We used a formal consensus development process, using a multiround, web-based Delphi survey. The survey was based on an in-person discussion at the European Society for the Study of Tourette Syndrome (ESSTS) meeting in Lausanne in June 2022. Members of an invited group with extensive clinical experience working with patients with Tourette syndrome and FTLBs discussed potential clinical criteria for diagnosis of FTLBs. An initial set of criteria were developed based on common clinical experiences and review of the literature on FTLBs and revised through iterative discussions, resulting in the survey items for voting. RESULTS: In total, 24 members of the working group were invited to participate in the Delphi process. We propose that there are three major criteria and two minor criteria to support the clinical diagnosis of FTLBs. A clinically definite diagnosis of FTLBs can be confirmed by the presence of all three major criteria. A clinically probable diagnosis of FTLBs can be confirmed by the presence of two major criteria and one minor criterion. CONCLUSIONS: Distinguishing FTLBs from primary tics is important due to the distinct treatment paths required for these two conditions. A limitation of the ESSTS 2022 criteria is that they lack prospective testing of their sensitivity and specificity.


Assuntos
Transtornos de Tique , Tiques , Síndrome de Tourette , Humanos , Adolescente , Síndrome de Tourette/diagnóstico , Síndrome de Tourette/tratamento farmacológico , Consenso , Estudos Prospectivos , Transtornos de Tique/diagnóstico , Transtornos de Tique/tratamento farmacológico
2.
Eur J Neurol ; 30(2): 334-343, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36282623

RESUMO

BACKGROUND AND PURPOSE: Between 2019 and 2022, there was a marked rise in adolescents/young adults seeking urgent help for functional tic-like behaviours (FTLBs). Given the global scale of this phenomenon, we aimed to pool cases from different institutions in an international registry to better characterize this spectrum and facilitate future longitudinal observation. METHODS: An international collaborative group from 10 tertiary referral centres for tic disorders collected retrospective data on FTLB patients who sought specialists' attention between the last quarter of 2019 and June 2022. An audit procedure was used for collection of data, which comprised demographics, course of presentation and duration, precipitating and predisposing factors, phenomenology, comorbidities, and pharmacological treatment outcome. RESULTS: During the study period, we collected data on 294 patients with FTLBs, 97% of whom were adolescents and young adults and 87% of whom were female. FTLBs were found to have a peak of severity within 1 month in 70% of patients, with spontaneous remissions in 20%, and a very high frequency of complex movements (85%) and vocalizations (81%). Less than one-fifth of patients had pre-existing primary tic disorder, 66% had comorbid anxiety disorders, 28% comorbid depressive disorders, 24% autism spectrum disorder and 23% attention deficit/hyperactivity disorder. Almost 60% explicitly reported exposure to tic-related social media content. The vast majority of pharmacologically treated patients did not report benefit with tic-suppressing medications. CONCLUSIONS: Our data from the largest multicentre registry of FTLBs to date confirm substantial clinical differences from primary tic disorders. Social modelling was the most relevant contributing factor during the pandemic. Future longitudinal analyses from this database may help understand treatment approaches and responsiveness.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Transtorno do Espectro Autista , Transtornos de Tique , Tiques , Síndrome de Tourette , Adolescente , Adulto Jovem , Humanos , Feminino , Masculino , Estudos Retrospectivos , Transtornos de Tique/epidemiologia , Transtornos de Tique/tratamento farmacológico , Comorbidade , Síndrome de Tourette/epidemiologia
3.
Eur Child Adolesc Psychiatry ; 31(3): 383-402, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-34661764

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/epidemiologia
4.
J Neural Transm (Vienna) ; 128(11): 1757-1765, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34389898

RESUMO

Tourette syndrome (TS) is a neuropsychiatric disorder with involvement of genetic and environmental factors. We investigated genetic loci previously implicated in Tourette syndrome and associated disorders in interaction with pre- and perinatal adversity in relation to tic severity using a case-only (N = 518) design. We assessed 98 single-nucleotide polymorphisms (SNPs) selected from (I) top SNPs from genome-wide association studies (GWASs) of TS; (II) top SNPs from GWASs of obsessive-compulsive disorder (OCD), attention-deficit/hyperactivity disorder (ADHD), and autism spectrum disorder (ASD); (III) SNPs previously implicated in candidate-gene studies of TS; (IV) SNPs previously implicated in OCD or ASD; and (V) tagging SNPs in neurotransmitter-related candidate genes. Linear regression models were used to examine the main effects of the SNPs on tic severity, and the interaction effect of these SNPs with a cumulative pre- and perinatal adversity score. Replication was sought for SNPs that met the threshold of significance (after correcting for multiple testing) in a replication sample (N = 678). One SNP (rs7123010), previously implicated in a TS meta-analysis, was significantly related to higher tic severity. We found a gene-environment interaction for rs6539267, another top TS GWAS SNP. These findings were not independently replicated. Our study highlights the future potential of TS GWAS top hits in gene-environment studies.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Transtorno do Espectro Autista , Tiques , Síndrome de Tourette , Transtorno do Deficit de Atenção com Hiperatividade/genética , Transtorno do Espectro Autista/genética , Feminino , Interação Gene-Ambiente , Estudo de Associação Genômica Ampla , Humanos , Gravidez , Índice de Gravidade de Doença
5.
Acta Paediatr ; 110(12): 3153-3160, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33848371

RESUMO

Pediatric acute-onset neuropsychiatric syndrome is a clinical concept used to describe a subgroup of children with sudden onset of psychiatric and somatic symptoms. The diagnostic term and especially management of children differs depending on the clinical setting to which they present, and the diagnosis and management is controversial. The aim of this paper is to propose a clinical guidance including homogenous diagnostic work-up and management of paediatric acute onset neuropsychiatric syndrome within the Nordic countries. The guidance is authored by a Nordic-UK working group consisting of paediatric neurologist, child psychiatrists and psychologists from Denmark, Norway, Sweden and Great Britain, and is the result of broad consensus. CONCLUSION: Consensus was achieved in the collaboration on work-up and treatment of patients with paediatric acute-onset neuropsychiatric syndrome, which we hope will improve and homogenise patient care and enable future collaborative research in the field.


Assuntos
Doenças Autoimunes , Transtorno Obsessivo-Compulsivo , Criança , Humanos , Países Escandinavos e Nórdicos , Suécia
6.
Epilepsia ; 61(5): 995-1007, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32469098

RESUMO

OBJECTIVE: We aimed to describe the extent of neurodevelopmental impairments and identify the genetic etiologies in a large cohort of patients with epilepsy with myoclonic atonic seizures (MAE). METHODS: We deeply phenotyped MAE patients for epilepsy features, intellectual disability, autism spectrum disorder, and attention-deficit/hyperactivity disorder using standardized neuropsychological instruments. We performed exome analysis (whole exome sequencing) filtered on epilepsy and neuropsychiatric gene sets to identify genetic etiologies. RESULTS: We analyzed 101 patients with MAE (70% male). The median age of seizure onset was 34 months (range = 6-72 months). The main seizure types were myoclonic atonic or atonic in 100%, generalized tonic-clonic in 72%, myoclonic in 69%, absence in 60%, and tonic seizures in 19% of patients. We observed intellectual disability in 62% of patients, with extremely low adaptive behavioral scores in 69%. In addition, 24% exhibited symptoms of autism and 37% exhibited attention-deficit/hyperactivity symptoms. We discovered pathogenic variants in 12 (14%) of 85 patients, including five previously published patients. These were pathogenic genetic variants in SYNGAP1 (n = 3), KIAA2022 (n = 2), and SLC6A1 (n = 2), as well as KCNA2, SCN2A, STX1B, KCNB1, and MECP2 (n = 1 each). We also identified three new candidate genes, ASH1L, CHD4, and SMARCA2 in one patient each. SIGNIFICANCE: MAE is associated with significant neurodevelopmental impairment. MAE is genetically heterogeneous, and we identified a pathogenic genetic etiology in 14% of this cohort by exome analysis. These findings suggest that MAE is a manifestation of several etiologies rather than a discrete syndromic entity.


Assuntos
Epilepsias Mioclônicas/patologia , Epilepsia Generalizada/patologia , Convulsões/patologia , Idade de Início , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Deficit de Atenção com Hiperatividade/genética , Transtorno do Deficit de Atenção com Hiperatividade/patologia , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/genética , Transtorno do Espectro Autista/patologia , Criança , Pré-Escolar , Eletroencefalografia , Epilepsias Mioclônicas/complicações , Epilepsias Mioclônicas/genética , Epilepsia Generalizada/complicações , Epilepsia Generalizada/genética , Feminino , Humanos , Lactente , Deficiência Intelectual/complicações , Deficiência Intelectual/genética , Deficiência Intelectual/patologia , Masculino , Neuroimagem , Fenótipo , Convulsões/genética , Sequenciamento do Exoma
8.
Dev Med Child Neurol ; 61(5): 523-534, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30548847

RESUMO

AIM: In an attempt to clarify the debate surrounding the diagnostic validity of childhood disintegrative disorder (CDD), we systematically reviewed its characteristics and compared it with autism spectrum disorder (ASD). METHOD: Four databases were searched (PubMed, PsycINFO, Embase, and Web of Science). Included articles had participants with CDD, as defined by symptoms present in the criteria of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision and the International Classification of Diseases, 10th Revision. Comparison groups were those with ASD and ASD with regression. Case studies were excluded. RESULTS: Twenty articles, comprising 96 participants with CDD (80 males, 16 females), were included. Most studies were cross-sectional. The prevalence of CDD was 1.1 to 9.2 per 100 000, with a mean age at regression of 3 years 2 months (SD 1y 1mo), with a range of 2 years to 7 years. In addition to core CDD symptoms, most had intellectual impairment, anxiety, challenging behaviours, and regressed in toileting skills. Participants with CDD and ASD shared core diagnostic and extra-diagnostic features. However, participants with CDD seemed to have more severe symptoms and a different symptom profile, including apparently typical development before regression, faster regression, more affective symptoms, and more global developmental deficit. Possible genetic and autoimmune neurobiological mechanisms were identified. INTERPRETATION: There is limited high-quality evidence describing the aetiology and outcomes of CDD. However, given the qualitative and prognostic differences between ASD and CDD, we recommend that future diagnostic criteria should distinguish late-onset regression.


TRASTORNO DESINTEGRATIVO INFANTIL Y TRASTORNO DEL ESPECTRO AUTISTA: UNA REVISIÓN SISTEMÁTICA: OBJETIVO: En un intento de aclarar el debate que rodea la validez diagnóstica del trastorno desintegrativo infantil (TDI), revisamos sistemáticamente sus características y lo comparamos con el trastorno del espectro autista (TEA). MÉTODO: Se realizaron búsquedas en cuatro bases de datos (PubMed, PsycINFO, Embase y Web of Science). Los artículos incluidos tenían participantes con TDI, según lo definido por los síntomas presentes en los criterios del Manual diagnóstico y estadístico de trastornos mentales, Cuarta edición, Revisión de texto y Clasificación internacional de enfermedades, Décima revisión. Los grupos de comparación fueron aquellos con TEA y TEA con regresión. Se excluyeron los estudios de caso. RESULTADOS: Se incluyeron 20 artículos, con 96 participantes con TDI (80 varones y 16 mujeres). La mayoría de los estudios fueron de corte transversal. La prevalencia de TDI fue de 1,1 a 9,2 por 100.000, con una edad media de regresión de 3 años a 2 meses (DS 1 años 1 mes), con un rango de 2 años a 7 años. Además de los síntomas centrales de la TDI, la mayoría tenía deterioro intelectual, ansiedad, comportamientos desafiantes y regresión en las habilidades para ir al baño. Los participantes con TDI y TEA compartieron funciones básicas comunes de diagnóstico y de diagnóstico adicional. Sin embargo, los participantes con TDI parecían tener síntomas más graves y un perfil de síntomas diferente, incluido un desarrollo aparentemente típico antes de la regresión, una regresión más rápida, síntomas más afectivos y un déficit de desarrollo más global. Se identificaron posibles mecanismos genéticos y autoinmunes neurobiológicos. INTERPRETACIÓN: Existe una evidencia limitada de alta calidad que describe la etiología y los resultados de la TDI. Sin embargo, dadas las diferencias cualitativas y pronósticas entre la TEA y la TDI, recomendamos que los criterios diagnósticos futuros distingan la regresión de inicio tardío.


TRANSTORNO DESINTEGRATIVO DA INFÂNCIA E TRANSTORNO DO ESPECTRO AUTISTA: UMA REVISÃO SISTEMÁTICA: OBJETIVO: Na tentativa de esclarecer o debate em torno da validade diagnóstica do transtorno desintegrativo da infância (TDI), nós revisamos sistematicamente suas características e as comparamos com o transtorno do espectro autista (TEA). MÉTODO: Quatro bases de dados foram pesquisadas (PubMed, PsycINFO, Embase, e Web of Science). Os artigos incluídos tinham participantes com TDI, como definido pelos sintomas presentes nos critérios do Manual Diagnóstico e Estatístico de Transtornos Mentais, quarta edição, com revisão do texto, e na Classificação Internacional de Doenças, 10a edição. Grupos de comparação foram aqueles com TEA e TEA com regressão. Estudos de caso foram excluídos. RESULTADOS: Vinte artigos, incluindo 96 participantes com TDI (80 do sexo masculino, 16 do sexo feminino), foram incluídos. A maior parte dos estudos era transversal. A prevalência de TDI foi de 1,1 a 9,2 por 100.000, com idade média de regressão de 3 anos e 2 meses (DP 1a 1m), com variação de 2 anos a 7 anos. Além dos sintomas centrais de TDI, a maioria tinha deficiência intelectual, ansiedade, comportamentos desafiadores, e regressão na habilidade de usar o banheiro. Participantes com TDI e TEA compartilham aspectos diagósticos e extra-diagnósticos centrais. No entanto, os participantes com TDI pareceram ter sintomas mais severos e um perfil diferente de sintomas, incluindo desenvolvimento aparentemente típico antes da regressão, regressão mais rápida, mais sintomas afetivos, e maior déficit global do desenvolvimento. Possíveis mecanismos neurobiológicos genéticos e autoimunes foram identificados. INTERPRETAÇÃO: Há evidência limitada de alta qualidade descrevendo a etiologia dos resultados do TDI. No entanto, dadas as diferenças qualitativas e prognósticas entre TEA e TDI, recomendamos que futuros critérios diagnósticos distinguam a regressão de início tardio.


Assuntos
Transtorno do Espectro Autista , Deficiência Intelectual/complicações , Transtornos da Linguagem/complicações , Transtornos do Comportamento Social/complicações , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/fisiopatologia , Criança , Pré-Escolar , Humanos , Deficiência Intelectual/epidemiologia , Transtornos da Linguagem/epidemiologia , Transtornos do Comportamento Social/epidemiologia
9.
Proc Natl Acad Sci U S A ; 113(9): E1236-45, 2016 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-26884178

RESUMO

Xeroderma pigmentosum (XP) is a rare DNA repair disorder characterized by increased susceptibility to UV radiation (UVR)-induced skin pigmentation, skin cancers, ocular surface disease, and, in some patients, sunburn and neurological degeneration. Genetically, it is assigned to eight complementation groups (XP-A to -G and variant). For the last 5 y, the UK national multidisciplinary XP service has provided follow-up for 89 XP patients, representing most of the XP patients in the United Kingdom. Causative mutations, DNA repair levels, and more than 60 clinical variables relating to dermatology, ophthalmology, and neurology have been measured, using scoring systems to categorize disease severity. This deep phenotyping has revealed unanticipated heterogeneity of clinical features, between and within complementation groups. Skin cancer is most common in XP-C, XP-E, and XP-V patients, previously considered to be the milder groups based on cellular analyses. These patients have normal sunburn reactions and are therefore diagnosed later and are less likely to adhere to UVR protection. XP-C patients are specifically hypersensitive to ocular damage, and XP-F and XP-G patients appear to be much less susceptible to skin cancer than other XP groups. Within XP groups, different mutations confer susceptibility or resistance to neurological damage. Our findings on this large cohort of XP patients under long-term follow-up reveal that XP is more heterogeneous than has previously been appreciated. Our data now enable provision of personalized prognostic information and management advice for each XP patient, as well as providing new insights into the functions of the XP proteins.


Assuntos
Xeroderma Pigmentoso/genética , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Heterogeneidade Genética , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Fenótipo , Reino Unido , Adulto Jovem
10.
Eur Child Adolesc Psychiatry ; 28(1): 91-109, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29982875

RESUMO

Genetic predisposition, autoimmunity and environmental factors [e.g. pre- and perinatal difficulties, Group A Streptococcal (GAS) and other infections, stress-inducing events] might interact to create a neurobiological vulnerability to the development of tics and associated behaviours. However, the existing evidence for this relies primarily on small prospective or larger retrospective population-based studies, and is therefore still inconclusive. This article describes the design and methodology of the EMTICS study, a longitudinal observational European multicentre study involving 16 clinical centres, with the following objectives: (1) to investigate the association of environmental factors (GAS exposure and psychosocial stress, primarily) with the onset and course of tics and/or obsessive-compulsive symptoms through the prospective observation of at-risk individuals (ONSET cohort: 260 children aged 3-10 years who are tic-free at study entry and have a first-degree relative with a chronic tic disorder) and affected individuals (COURSE cohort: 715 youth aged 3-16 years with a tic disorder); (2) to characterise the immune response to microbial antigens and the host's immune response regulation in association with onset and exacerbations of tics; (3) to increase knowledge of the human gene pathways influencing the pathogenesis of tic disorders; and (4) to develop prediction models for the risk of onset and exacerbations of tic disorders. The EMTICS study is, to our knowledge, the largest prospective cohort assessment of the contribution of different genetic and environmental factors to the risk of developing tics in putatively predisposed individuals and to the risk of exacerbating tics in young individuals with chronic tic disorders.


Assuntos
Transtornos de Tique/complicações , Transtornos de Tique/diagnóstico , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Europa (Continente) , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Fatores de Risco , Transtornos de Tique/patologia
11.
Eur Arch Psychiatry Clin Neurosci ; 268(3): 301-316, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28555406

RESUMO

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 Jovem
12.
Compr Psychiatry ; 83: 31-37, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29549877

RESUMO

OBJECTIVE: Depression is common in Tourette syndrome and Chronic Tic Disorders (TS/CTD) and contributes to significant impairment. The specificity of autobiographical memories is implicated in an individual's sense of self and their daily functioning but also in the onset and development of depression in the general population. Here, we examined whether memory specificity is reduced in young people with TS/CTD, relative to control participants, and whether memory specificity is associated with depression. METHOD: Thirty young people with TS/CTD (14 females; age: x̅ = 11.31; SD = 1.66; 87% White British) and twenty-six (12 females; age: x̅ = 11.23; SD = 2.43; 77% White British) control participants completed the study. Participants completed the Autobiographical Memory Task, which asks participants to respond with a specific memory to cue words, and a questionnaire measure of depressive symptoms. RESULTS: There was no significant difference between the two groups in terms of age, gender, ethnicity, IQ and depressive symptomatology. Young people with TS/CTD had less specific autobiographical memories than their peers (p < 0.001, r = 0.49). Across both groups, increased memory specificity for positive cue words was associated with reduced depressive symptomatology (p < 0.001, R2 = 0.51). CONCLUSIONS: Our findings indicate that autobiographical memory in young people with TS is characterised by a lack of specificity and, as with neurotypical peers, reduced memory specificity for positive words is associated with depressive symptoms. Autobiographical memory specificity could be an important factor in understanding mood symptoms that characterise young people with TS/CTD and may be an important cognitive target to reduce the development of depression in young people with TS/CTD.


Assuntos
Memória Episódica , Transtornos de Tique/diagnóstico , Transtornos de Tique/psicologia , Adolescente , Afeto/fisiologia , Criança , Estudos Transversais , Depressão/diagnóstico , Depressão/psicologia , Feminino , Humanos , Masculino , Rememoração Mental/fisiologia , Inquéritos e Questionários , Síndrome de Tourette/diagnóstico , Síndrome de Tourette/psicologia , Adulto Jovem
13.
Ann Neurol ; 79(5): 784-793, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26928665

RESUMO

OBJECTIVE: Arterial ischemic stroke (AIS) is an important cause of acquired brain injury in children. Few prospective population-based studies of childhood AIS have been completed. We aimed to investigate the outcome of childhood AIS 12 months after the event in a population-based cohort. METHODS: Children aged 29 days to < 16 years with radiologically confirmed AIS occurring over a 1-year period residing in southern England (population = 5.99 million children) were eligible for inclusion. Outcome was assessed during a home visit using the Pediatric Stroke Outcome Measure (PSOM). Parental impressions of recovery were assessed using the Pediatric Stroke Recurrence and Recovery Questionnaire. PSOM score was estimated via telephone interview or clinician interview whenever home visit was not possible. RESULTS: Ninety-six children with AIS were identified. Two children were lost to follow-up. Nine of 94 (10%) children died before the 12-month follow-up. One child had an AIS recurrence. PSOM scores were available for 78 of 85 living children at follow-up. Thirty-nine of 78 (50%) had a good outcome (total PSOM score < 1), and 39 of 78 (50%) had a poor outcome. Seizures at onset of AIS were associated with a poor outcome (odds ratio = 3.5, 95% confidence interval = 1.16-10.6). Twenty-eight of 73 (38%) children were judged by their carers to have fully recovered. Ten of 84 (12%) children had recurrent seizures, and 17 of 84 (20%) reported recurrent headaches. INTERPRETATION: AIS carries a significant risk of mortality and long-term neurological deficit. However, the rates of mortality, recurrence, and neurological impairment were markedly lower in this study than previously published figures in the United Kingdom. Ann Neurol 2016;79:784-793.

15.
J Child Psychol Psychiatry ; 57(9): 988-1004, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-27132945

RESUMO

BACKGROUND: Tourette syndrome (TS) and chronic tic disorder (CTD) affect 1-2% of children and young people, but the most effective treatment is unclear. To establish the current evidence base, we conducted a systematic review of interventions for children and young people. METHODS: Databases were searched from inception to 1 October 2014 for placebo-controlled trials of pharmacological, behavioural, physical or alternative interventions for tics in children and young people with TS or CTD. Certainty in the evidence was assessed with the GRADE approach. RESULTS: Forty trials were included [pharmacological (32), behavioural (5), physical (2), dietary (1)]. For tics/global score there was evidence favouring the intervention from four trials of α2-adrenergic receptor agonists [clonidine and guanfacine, standardised mean difference (SMD) = -0.71; 95% CI -1.03, -0.40; N = 164] and two trials of habit reversal training (HRT)/comprehensive behavioural intervention (CBIT) (SMD = -0.64; 95% CI -0.99, -0.29; N = 133). Certainty in the effect estimates was moderate. A post hoc analysis combining oral clonidine/guanfacine trials with a clonidine patch trial continued to demonstrate benefit (SMD = -0.54; 95% CI -0.92, -0.16), but statistical heterogeneity was high. Evidence from four trials suggested that antipsychotic drugs improved tic scores (SMD = -0.74; 95% CI -1.08, -0.40; N = 76), but certainty in the effect estimate was low. The evidence for other interventions was categorised as low or very low quality, or showed no conclusive benefit. CONCLUSIONS: When medication is considered appropriate for the treatment of tics, the balance of clinical benefits to harm favours α2-adrenergic receptor agonists (clonidine and guanfacine) as first-line agents. Antipsychotics are likely to be useful but carry the risk of harm and so should be reserved for when α2-adrenergic receptor agonists are either ineffective or poorly tolerated. There is evidence that HRT/CBIT is effective, but there is no evidence for HRT/CBIT alone relative to combining medication and HRT/CBIT. There is currently no evidence to suggest that the physical and dietary interventions reviewed are sufficiently effective and safe to be considered as treatments.


Assuntos
Síndrome de Tourette/terapia , Adolescente , Adulto , Criança , Humanos , Síndrome de Tourette/tratamento farmacológico , Adulto Jovem
17.
J Neurol Neurosurg Psychiatry ; 86(8): 917-21, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25342203

RESUMO

BACKGROUND: Stroke is a major cause of mortality in children. Conditions that mimic stroke also cause severe morbidity and require prompt diagnosis and treatment. We have investigated the time to diagnosis in a cohort of children with stroke. METHODS: A population-based cohort of children with stroke was prospectively identified in the south of England. Case notes, electronic hospital admission databases and radiology records were reviewed. Timing of symptom onset, presentation to hospital, first neuroimaging, first diagnostic neuroimaging and presenting clinical features were recorded. RESULTS: Ninety-six children with an arterial ischaemic stroke (AIS) and 43 with a haemorrhagic stroke (HS) were identified. The median time from symptom onset to diagnostic neuroimaging was 24.3 h in AIS and 2.9 h in HS. The initial imaging modality was CT in 68% of cases of AIS. CT was diagnostic of AIS in 66% of cases. MRI was diagnostic in 100%. If initial neuroimaging was non-diagnostic in AIS, then median time to diagnosis was 44 h. CT was diagnostic in 95% of HS cases. Presentation outside normal working hours resulted in delayed neuroimaging in AIS (13 vs 3 h, p=0.032). Diffuse neurological signs or a Glasgow Coma Scale <9 resulted in more expeditious neuroimaging in both HS and AIS. CONCLUSIONS: The diagnosis of AIS in children is delayed at every stage of the pathway but most profoundly when the first neuroimaging is CT scanning, which is non-diagnostic. MRI should be the initial imaging modality of choice in any suspected case of childhood AIS.


Assuntos
Diagnóstico Tardio/estatística & dados numéricos , Acidente Vascular Cerebral/diagnóstico , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Neuroimagem/estatística & dados numéricos , Estudos Prospectivos , Fatores de Tempo , Tomografia Computadorizada por Raios X
18.
BMC Psychiatry ; 15: 46, 2015 Mar 11.
Artigo em Inglês | MEDLINE | ID: mdl-25879205

RESUMO

BACKGROUND: Tourette syndrome (TS) among young people is associated with psychosocial difficulties and parents play an important role in the management of the condition. Clinical guidelines have been developed for the treatment of TS and tics, but little is known about how young people and their parents perceive their treatment options or their desired outcomes of treatment. The aim of this study is to explore perceptions of treatments for tics among young people with TS and their parents. METHODS: In-depth interviews with 42 young people with TS and a mixed-methods, online survey of 295 parents of young people with TS. Participant recruitment was conducted through Tourettes Action (TA): a non-profit UK organisation for the support of people with TS. Interview transcripts were analysed using thematic analysis and responses to survey open-ended questions were analysed using content analysis. Triangulation of qualitative and quantitative data from the parents' survey and qualitative data from the interviews with young people was used to increase the validity and depth of the findings. RESULTS: A strong theme was the perception that health professionals have limited knowledge of TS and its treatment. Medication was a common treatment for tics and both young people and parents described benefits of medication. However, adverse effects were frequently described and these were a common reason for stopping medication among young people. Aripiprazole was viewed most positively. Access to behavioural interventions for tics was limited and 76% of parents wanted this treatment to be available for their child. Some young people had reservations about the effectiveness or practicality of behavioural interventions. Reduction and abolition of tics were desired outcomes of treatment, but both parents and young people also identified the importance of increasing control over tics and reducing anxiety-related symptoms. For young people, managing the urge to tic was an important outcome of treatment. CONCLUSIONS: The results suggest a need for more training in the identification and management of TS and wider availability of behavioural treatments. Clinical trials could explore the effectiveness of Aripiprazole used in combination with psycho-educational interventions to reduce anxiety and promote a sense of control.


Assuntos
Conhecimentos, Atitudes e Prática em Saúde , Pais/psicologia , Tiques/complicações , Tiques/terapia , Síndrome de Tourette/complicações , Síndrome de Tourette/psicologia , Adolescente , Adulto , Idoso , Coleta de Dados , Feminino , Humanos , Entrevista Psicológica , Masculino , Pessoa de Meia-Idade , Tiques/tratamento farmacológico , Tiques/psicologia
19.
Brain ; 136(Pt 1): 294-303, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23365103

RESUMO

Myoclonus dystonia syndrome is a childhood onset hyperkinetic movement disorder characterized by predominant alcohol responsive upper body myoclonus and dystonia. A proportion of cases are due to mutations in the maternally imprinted SGCE gene. Previous studies have suggested that patients with SGCE mutations may have an increased rate of psychiatric disorders. We established a cohort of patients with myoclonus dystonia syndrome and SGCE mutations to determine the extent to which psychiatric disorders form part of the disease phenotype. In all, 89 patients with clinically suspected myoclonus dystonia syndrome were recruited from the UK and Ireland. SGCE was analysed using direct sequencing and for copy number variants. In those patients where no mutation was found TOR1A (GAG deletion), GCH1, THAP1 and NKX2-1 were also sequenced. SGCE mutation positive cases were systematically assessed using standardized psychiatric interviews and questionnaires and compared with a disability-matched control group of patients with alcohol responsive tremor. Nineteen (21%) probands had a SGCE mutation, five of which were novel. Recruitment of family members increased the affected SGCE mutation positive group to 27 of whom 21 (77%) had psychiatric symptoms. Obsessive-compulsive disorder was eight times more likely (P < 0.001) in mutation positive cases, compulsivity being the predominant feature (P < 0.001). Generalized anxiety disorder (P = 0.003) and alcohol dependence (P = 0.02) were five times more likely in mutation positive cases than tremor controls. SGCE mutations are associated with a specific psychiatric phenotype consisting of compulsivity, anxiety and alcoholism in addition to the characteristic motor phenotype. SGCE mutations are likely to have a pleiotropic effect in causing both motor and specific psychiatric symptoms.


Assuntos
Alcoolismo/genética , Transtornos de Ansiedade/genética , Distúrbios Distônicos/genética , Mioclonia/genética , Transtorno Obsessivo-Compulsivo/genética , Sarcoglicanas/genética , Adolescente , Adulto , Idoso , Alcoolismo/diagnóstico , Transtornos de Ansiedade/diagnóstico , Criança , Pré-Escolar , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Transtorno Obsessivo-Compulsivo/diagnóstico , Fenótipo , Qualidade de Vida
20.
Dev Med Child Neurol ; 56(12): 1212-1218, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24947872

RESUMO

AIM: The aim of this article is to describe a subgroup of children who presented with stereotyped movements in the context of episodes of intense imagery. This is of relevance to current discussions regarding the clinical usefulness of diagnosing motor stereotypies during development. METHOD: The sample consisted of 10 children (nine males, one female; mean age 8y 6mo [SD 2y 5mo], range 6-15y). Referrals were from acute paediatricians, neurologists, and tertiary epilepsy services. Children were assessed by multidisciplinary teams with expertise in paediatric movement disorders. RESULTS: Stereotypies presented as paroxysmal complex movements involving upper and lower limbs. Imagery themes typically included computer games (60%), cartoons/films (40%), and fantasy scenes (30%). Comorbid developmental difficulties were reported for 80% of children. Brain imaging and electrophysiological investigations had been conducted for 50% of the children before referral to the clinic. INTERPRETATION: The descriptive term 'intense imagery movements' (IIM) was applied if (after interview) the children reported engaging in acts of imagery while performing stereotyped movements. We believe these children may form a common and discrete stereotypy subgroup, with the concept of IIM being clinically useful to ensure the accurate diagnosis and clinical management of this paediatric movement disorder.


Assuntos
Imagens, Psicoterapia/métodos , Movimento/fisiologia , Transtorno de Movimento Estereotipado/diagnóstico , Transtorno de Movimento Estereotipado/fisiopatologia , Adolescente , Criança , Feminino , Humanos , Masculino , Comportamento Estereotipado
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