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1.
Tijdschr Psychiatr ; 55(4): 269-77, 2013.
Artigo em Holandês | MEDLINE | ID: mdl-23595841

RESUMO

BACKGROUND: Psychiatrists treating patients with drug and alcohol addiction currently consider these afflicions to be mental disorders. If patients are so mentally disturbed that they are a danger to themselves or others, then compulsory hospitalisation seems to be an acceptable treatment option. However, it would seem that at present this solution is not normal practice in addiction care. AIM: To describe the indications for compulsory hospitalisation when mental disorders associated with addiction and withdrawal cause risks and dangers. METHOD: Discussion of the indications for compulsory enforced hospitalisation supported by literature. RESULTS: Compulsory hospitalisation is based on the acceptance of the principle that addiction and substance abuse are mental disorders. Indications for emergency hospitalisation include intoxications, acute withdrawal symptoms and other disorders associated with substance use. Indications for longer-term measures are (self)-protection, societal isolation and the need to protect other people from danger. Factors influencing the decision-making process regarding emergency hospitalisation are motivation and treatment perspectives, mental incompetence, contraindications and conflicts between criminal law and patients' rights. RESULTS: Compulsory hospitalisation deserves serious consideration as the ultimate step in treatment of intoxication, drug and alcohol dependence and withdrawal symptoms. In addition, emergency hospitalisation can be a way of averting danger, facilitating diagnosis and motivating abstinence or at least a reduction in substance use.


Assuntos
Transtornos Relacionados ao Uso de Álcool/psicologia , Internação Compulsória de Doente Mental , Comportamento Perigoso , Transtornos Relacionados ao Uso de Substâncias/psicologia , Transtornos Relacionados ao Uso de Álcool/terapia , Coerção , Tomada de Decisões , Humanos , Motivação , Cooperação do Paciente/psicologia , Participação do Paciente/psicologia , Medição de Risco , Fatores de Risco , Transtornos Relacionados ao Uso de Substâncias/terapia
2.
Ned Tijdschr Geneeskd ; 148(52): 2573-6, 2004 Dec 25.
Artigo em Holandês | MEDLINE | ID: mdl-15646857

RESUMO

Four patients whose automedication had attracted medical attention had signs compatible with adult attention deficit hyperactivity disorder (ADHD). Two of them, men aged 42 and 28, were seen with their hyperactive children in the outpatient department; they appeared to drink huge amounts of coffee, smoked heavily or used cannabis to facilitate sleep. The other two patients, a man aged 25 and a woman aged 35, were initially not diagnosed with ADHD; they had noticed that dopaminergic drugs like cocaine and an amphetamine-containing medication taken to lose weight made their behaviour much more 'normal', although the man was addicted. All experienced relief of their chaotic mental activity when they were treated with methylphenidate. Smoking and addiction due to undiagnosed ADHD may lead to 'automutilation'. Early recognition and awareness of the symptoms of ADHD is important; the clinical interview should also cover items like automedication and other ADHD symptoms in the family.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtornos Relacionados ao Uso de Substâncias/etiologia , Adulto , Transtorno do Deficit de Atenção com Hiperatividade/tratamento farmacológico , Cafeína/administração & dosagem , Estimulantes do Sistema Nervoso Central/uso terapêutico , Transtornos Relacionados ao Uso de Cocaína/epidemiologia , Transtornos Relacionados ao Uso de Cocaína/etiologia , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Abuso de Maconha , Metilfenidato/uso terapêutico , Transtornos Relacionados ao Uso de Substâncias/epidemiologia , Tabagismo/epidemiologia , Tabagismo/etiologia
3.
Behav Res Methods Instrum Comput ; 33(3): 357-63, 2001 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-11591067

RESUMO

Gilles de la Tourette syndrome is a chronic neuropsychiatric disorder characterized by recurrent and involuntary tics, in addition to complex behavioral symptoms. Objective quantification of the nonspecific movements in Tourette patients can contribute much to understanding the pathophysiology of this disease. We used three accelerometers to characterize head movement patterns and to objectively quantify head motility in the lateral, sagittal, and transversal planes in 9 Tourette patients and 14 controls during periods of rest, conversation, and watching a videotape with an entertaining program. Characteristic head movement patterns can be documented by means of accelerometry. Head motility levels in the lateral, sagittal, and transversal planes were significantly higher in the patients than in the controls during all the procedures. The patients and the controls showed a similar significant increase in head motility during conversation, but not during video watching. This first study shows that for both standardized and ambulatory research, accelerometry may provide an objective tool by which to quantify the severity and temporal dynamics of tics or nonspecific movements.


Assuntos
Discinesias/diagnóstico , Movimentos da Cabeça , Monitorização Ambulatorial/instrumentação , Tiques/diagnóstico , Síndrome de Tourette/diagnóstico , Adulto , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estatísticas não Paramétricas
4.
J Nerv Ment Dis ; 189(4): 219-28, 2001 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-11339317

RESUMO

Stereotyped repetitive behaviors occur in Gilles de la Tourette's Syndrome (GTS) and obsessive-compulsive disorder (OCD). The present study was undertaken to compare the distribution of obsessive-compulsive and Tourette-related impulsive behaviors in GTS with (+) OCD, GTS without (-) OCD, tic-free OCD, and control subjects. Fourteen GTS + OCD, 18 GTS-OCD, 21 OCD-tic, and 29 control subjects were evaluated using a semistructured interview designed to assess GTS and OCD-related repetitive behaviors. Each reported item was evaluated on the presence of anxiety and goal-directedness. This information was subsequently used to define whether the repetitive behavior was an (anxiety-related) obsession or compulsion, or a (non-anxiety-related) OC-like behavior, impulsion. GTS + OCD subjects reported more overall Tourette-related impulsions than OCD-tic subjects, i.e., more mental play, echophenomena, and touching behaviors but similar frequencies of typical obsessive-compulsive behaviors. Further, GTS + OCD subjects exhibited more overall repetitive behaviors than GTS-OCD subjects, i.e., more Tourette-related impulsions as well as more obsessive-compulsive behaviors. The distribution of symptoms is similar in GTS with and without OCD, and differs from tic-free OCD. These differences suggest that GTS with OCD constitutes a form of GTS, not of OCD, although the possibility that GTS + OCD patients constitute a subgroup distinct from GTS and from OCD can not be excluded by this phenomenological study. Specific non-anxiety-related impulsions seem to discriminate between GTS and OCD-tic individuals. These impulsions possibly reflect differences in underlying mechanisms between GTS and OCD-tics.


Assuntos
Transtorno Obsessivo-Compulsivo/diagnóstico , Tiques/diagnóstico , Síndrome de Tourette/diagnóstico , Adulto , Transtornos de Ansiedade/diagnóstico , Transtornos de Ansiedade/epidemiologia , Transtornos de Ansiedade/psicologia , Comorbidade , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Países Baixos/epidemiologia , Transtorno Obsessivo-Compulsivo/epidemiologia , Transtorno Obsessivo-Compulsivo/psicologia , Inventário de Personalidade/estatística & dados numéricos , Escalas de Graduação Psiquiátrica/estatística & dados numéricos , Psicometria , Reprodutibilidade dos Testes , Índice de Gravidade de Doença , Tiques/epidemiologia , Tiques/psicologia , Síndrome de Tourette/epidemiologia , Síndrome de Tourette/psicologia
5.
Eur Psychiatry ; 16(3): 162-6, 2001 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-11353594

RESUMO

OBJECTIVE: Reports of an increased incidence of schizophrenia in some immigrant groups to The Netherlands are based exclusively on hospital data. THE AIMS OF OUR STUDY WERE: 1) to determine the treated point prevalence of schizophrenia at outpatient mental health services in Rotterdam and to compare the results for immigrants to those for natives; and 2) to compare groups born in The Netherlands and immigrant groups in terms of the proportions of patients with a previous hospital admission. METHOD: We included all patients aged between 20 and 64 who were treated for a non-affective psychosis at any of the outpatient mental health services in Rotterdam on October 1, 1994. The mental health professionals responsible reported on the socio-demographic and clinical characteristics of each patient. RESULTS: Seven hundred and thirteen patients with a diagnosis of schizophrenia (DSM-III-R) were identified (rate: 2.1 per 1000). The (treated) prevalence of schizophrenia in male immigrants from Surinam and Morocco and in female immigrants from Surinam, the Netherlands Antilles and Cape Verde was significantly higher than that in their native-born counterparts (odds ratios between 2 and 3). The (treated) prevalence was not significantly higher in immigrants from Turkey, female immigrants from Morocco or male immigrants from the Antilles. Proportions of patients with a previous hospital admission were similar in each ethnic group (81-93%). CONCLUSION: These findings are generally in line with earlier studies, based on the Dutch psychiatric registry, which has reported an increase in the (treated) incidence of schizophrenia in immigrants from Surinam and the Netherlands Antilles and in male immigrants from Morocco, and no increase in the (treated) incidence in immigrants from Turkey or female immigrants from Morocco.


Assuntos
Emigração e Imigração/estatística & dados numéricos , Transtornos Psicóticos/reabilitação , Esquizofrenia/etnologia , Esquizofrenia/epidemiologia , Adulto , Assistência Ambulatorial , Área Programática de Saúde , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Marrocos/etnologia , Países Baixos/epidemiologia , Prevalência , Escalas de Graduação Psiquiátrica , Transtornos Psicóticos/etiologia , Esquizofrenia/diagnóstico , Psicologia do Esquizofrênico , Suriname/etnologia , Turquia/etnologia
6.
J Am Acad Child Adolesc Psychiatry ; 40(4): 456-63, 2001 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-11314572

RESUMO

BACKGROUND AND OBJECTIVES: Tourette syndrome (TS) is a neuropsychiatric disorder in which the pattern of symptom presentation can vary greatly between individuals. Although globally described, TS has not been well characterized in many parts of the world. Differences in individual and cultural perceptions of TS may impact its expression and recognition in some countries, confounding the identification of affected individuals. This study examines the phenomenology and presentation of TS in Costa Rica. METHOD: Clinical data on 85 Costa Rican subjects with TS (aged 5-29 years) initially recruited for a genetic study between 1996 and early 2000 were obtained by direct interview and review of medical records. RESULTS: The clinical characteristics of TS were similar to that found elsewhere. The gender ratio was 4.6:1, the mean age of onset was 6.1 years, and 20% of subjects had coprolalia. However, the perceived impact of TS was different. Many subjects denied that their TS caused impairment or distress, even when objective evidence of impairment was available. CONCLUSIONS: TS in Costa Rica is phenomenologically similar to TS seen in other parts of the world, but differs in perceived impairment. In other countries where cultural forces affect disease definition, close scrutiny of symptom expression and possible adjustment of phenotype definition may be important.


Assuntos
Características Culturais , Síndrome de Tourette/diagnóstico , Síndrome de Tourette/etnologia , Adolescente , Adulto , Criança , Pré-Escolar , Costa Rica/etnologia , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Opinião Pública , Índice de Gravidade de Doença
7.
Psychiatry Res ; 101(2): 171-85, 2001 Mar 25.
Artigo em Inglês | MEDLINE | ID: mdl-11286820

RESUMO

Gilles de la Tourette Syndrome (GTS) and obsessive-compulsive disorder (OCD) share obsessive-compulsive phenomena. The aims of this study were to compare the OC symptom distribution between GTS and OCD and to investigate whether a subdivision of these phenomena into obsessions, compulsions and 'impulsions' is useful in distinguishing GTS and OCD patients. Thirty-two GTS, 31 OCD (10 with tics, 21 without tics) and 29 control subjects were studied using the Leiden repetitive behaviors semi-structured interview to assess GTS as well as OCD-related behaviors. Each reported repetitive thought or action was evaluated on the presence of anxiety and on goal-directedness. This information was used to define whether the behavior was an obsession, compulsion, or 'impulsion'. Both the GTS and OCD study groups showed higher scores than control subjects on rating scales measuring depression, OC behavior and anxiety. In GTS, Y-BOCS severity scores and trait anxiety were lower than in the OCD groups. Furthermore, GTS patients differed from OCD patients in the distribution of symptoms. Aggressive repetitive thoughts, contamination worries and washing behaviors were reported more frequently by tic-free OCD, while mental play, echophenomena, touching and (self)-injurious behaviors were reported more frequently by GTS. OCD individuals with tics were intermediate, but closer to tic-free OCD. GTS individuals reported significantly more 'impulsions' and fewer obsessions and compulsions than OCD individuals with and without tics. Factor analysis revealed three factors accounting for 44% of the variance, resulting in an 'impulsive' factor related to GTS, a 'compulsive' factor related to OCD and an 'obsessive' factor related to tic-free OCD. In conclusion, OCD individuals reported more anxiety and goal-directedness associated with their behaviors than did GTS subjects. The distinction between obsessions, compulsions and impulsions is of importance in identifying Tourette-related vs. non-Tourette-related repetitions.


Assuntos
Transtorno Obsessivo-Compulsivo/complicações , Comportamento Estereotipado , Tiques/complicações , Síndrome de Tourette/complicações , Adulto , Estudos de Casos e Controles , Comportamento Compulsivo/etiologia , Diagnóstico Diferencial , Análise Fatorial , Feminino , Humanos , Comportamento Impulsivo/etiologia , Masculino , Comportamento Obsessivo/etiologia , Transtorno Obsessivo-Compulsivo/psicologia , Escalas de Graduação Psiquiátrica , Síndrome de Tourette/psicologia
8.
J Clin Psychiatry ; 61(10): 756-66, 2000 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-11078037

RESUMO

BACKGROUND: A review of the studies examining the genetic etiology of panic disorder shows the familial nature of the disorder and demonstrates that the etiology is greatly influenced by genetic factors. Strong evidence for vertical transmission in family studies led to molecular genetic studies, of which association designs appear promising, particularly when based on trait markers. DATA SOURCES: The MEDLINE and PsycLIT databases were searched for all reports published between 1966 and 2000 containing the keywords panic, genetic, twin, adoption, linkage, association, and QTL. CONCLUSION: We conclude that the multifactorial nature of panic disorder requires a multidisciplinary approach to gain insight into the determinants of the phenotype and the interaction of environmental and genetic factors.


Assuntos
Família , Transtorno de Pânico/genética , Adoção , Ansiedade de Separação/genética , Comorbidade , Transtorno Depressivo/genética , Marcadores Genéticos , Humanos , Transmissão Vertical de Doenças Infecciosas , Transtorno de Pânico/epidemiologia , Fenótipo , Projetos de Pesquisa , Estudos em Gêmeos como Assunto
9.
J Clin Psychiatry ; 61(7): 505-13, 2000 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-10937609

RESUMO

BACKGROUND: This study investigated which categories of obsessive-compulsive and Tourette-related behaviors in Gilles de la Tourette's disorder and obsessive-compulsive disorder (OCD) without tics are experienced as most severe across the study groups and what the differences are in symptom distribution between the study groups. METHOD: Fourteen subjects with both Tourette's disorder and OCD, 18 subjects with Tourette's only, 21 subjects with OCD (no tics), and 29 control subjects were studied using a semistructured interview designed to equally assess Tourette- and OCD-related behaviors according to DSM-III-R criteria. Each reported repetitive behavior was evaluated on the presence of anxiety and on goal-directedness. Anxiety-related items were categorized as obsessions or compulsions and non-anxiety-related items as impulsions. Severity of each reported item was assessed with respect to time per day consumed and amount of distress and interference induced by the item. Following these criteria, each reported item was classified as a symptom, a subthreshold symptom, or just as being present. RESULTS: Across the study groups, obsessions were experienced as more severe than (Tourette-related) impulsions and compulsions. Within the study groups, patients with both Tourette's disorder and OCD reported more symptomatic Tourette-related impulsions, such as mental play, echophenomena, and impulsive or self-injurious behaviors; less overall symptomatic obsessions; and less symptomatic washing than patients with OCD (no tics). The differences among individuals with Tourette's with or without OCD reflected differences in symptom severity rather than differences in symptom distribution. CONCLUSION: Obsessions are more time consuming, distressing, and interfering than compulsions and impulsions. Furthermore, the symptomatic repetitive behaviors were distributed differently among patients with both Tourette's disorder and OCD and patients with OCD (no tics). Patients with Tourette's and OCD are phenomenologically more similar to Tourette's than to OCD. These differences possibly represent differences in underlying pathophysiology between Tourette's and tic-free OCD.


Assuntos
Transtorno Obsessivo-Compulsivo/diagnóstico , Transtorno de Movimento Estereotipado/diagnóstico , Síndrome de Tourette/diagnóstico , Adulto , Feminino , Humanos , Comportamento Impulsivo/diagnóstico , Comportamento Impulsivo/psicologia , Masculino , Pessoa de Meia-Idade , Comportamento Obsessivo/diagnóstico , Comportamento Obsessivo/psicologia , Transtorno Obsessivo-Compulsivo/psicologia , Escalas de Graduação Psiquiátrica/estatística & dados numéricos , Índice de Gravidade de Doença , Transtorno de Movimento Estereotipado/psicologia , Síndrome de Tourette/psicologia
10.
Neurology ; 53(9): 2108-12, 1999 Dec 10.
Artigo em Inglês | MEDLINE | ID: mdl-10599790

RESUMO

BACKGROUND: The clinical characteristics of Tourette syndrome (TS) present challenges for the systematic determination of whether individuals are affected and severity. Vocal and motor tics wax and wane, decrease over time, and may be voluntarily suppressible, and therefore may be absent at interview. Current instruments measure symptoms at interview or rate symptom severity only. METHOD: To minimize error in case ascertainment and produce an instrument measuring lifetime likelihood of having had TS, clinical members of the American Tourette Syndrome Association International Genetic Collaboration developed the Diagnostic Confidence Index (DCI). The expert group worked collaboratively with progressive revision in consensus workshops using existing diagnostic criteria as guidelines. The DCI produces a score from 0 to 100 that is a measure of the likelihood of having or ever having had TS. RESULTS: The DCI was administered to 280 consecutive patients with TS attending a TS clinic; 264 (94%) completed it, indicating high feasibility and acceptability. Its correlation with other instruments and associations with psychopathology provide support for its being a lifetime measure of TS. CONCLUSIONS: The DCI is a useful, practicable instrument in the clinic or research practice allowing an assessment of lifetime likelihood of TS. Further work is needed to test the DCI's psychometric properties, such as its validity and reliability in populations of interest.


Assuntos
Escalas de Graduação Psiquiátrica/estatística & dados numéricos , Síndrome de Tourette/diagnóstico , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Intervalos de Confiança , Estudos de Viabilidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Guias de Prática Clínica como Assunto , Psicometria , Síndrome de Tourette/classificação , Síndrome de Tourette/genética , Síndrome de Tourette/psicologia
11.
J Neurol Neurosurg Psychiatry ; 67(6): 800-2, 1999 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-10567503

RESUMO

Spontaneous eye blink rate and frequency of eye tics were studied in nine Tourette patients during periods of rest, conversation, and video watching. In comparison with controls, the Tourette patients showed a significantly higher blink rate during rest and video watching. Conversation induced a significant increase in blink rate in the control group, but not in the Tourette patients, whereas video watching significantly increased blink rate in both groups. The frequency of eye tics showed a significant decrease during conversation and increased significantly during video watching in Tourette patients. In five patients, a significant positive correlation between blink rate and eye tic frequency was found, whereas one patient showed a significant negative correlation. Our results show that, even though some of our patients were on neuroleptic treatment, blink rate was about twofold to threefold increased versus healthy controls, suggesting increased central dopaminergic activity. Furthermore, these first quantitative data illustrate task specific effects on eye tic frequency and the complexity of their relation with eye blinks.


Assuntos
Piscadela/fisiologia , Tiques/diagnóstico , Síndrome de Tourette/diagnóstico , Adulto , Comunicação , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Periodicidade , Descanso , Análise e Desempenho de Tarefas , Gravação de Videoteipe
12.
Acta Neuropsychiatr ; 11(2): 63-6, 1999 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26976256

RESUMO

The common denominator of anxiety disorders is that they share inappropriate levels of emotions and cognitions that affect rather than enable adaptive behaviours. The variety of symptoms include 'spontaneous' panic attacks with mental and physical symptoms, stimulus bound anxiety associated with avoidance behaviour, and almost constant 'generalized' anxious feelings. According to the DSM-IV criteria the anxiety disorders are classified as shown in Table I.

13.
Psychol Rep ; 83(2): 515-29, 1998 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-9819927

RESUMO

Cardiovascular and catecholaminergic activity during mental load were studied in patients with Tourette syndrome. Patients and controls performed the Color Word Test, preceded by a baseline period, with continuous measurements of heart rate and blood pressure. Blood samples for assay of plasma catecholamine concentrations were obtained before and during the test. The patients showed higher heart rate and blood pressure during baseline than controls, but no differences regarding plasma catecholamines. The tics corresponded with transient increases in heart rate and blood pressure. Spectral analysis of cardiovascular variability during mental load gave only limited evidence of increased sympathetic activity and no alterations in parasympathetic activity in the patients. Therefore, our findings indicate enhanced cardiovascular activity in the patients but not during mental load. The effects of tics on the cardiovascular parameters illustrate the functional complexity of the autonomic nervous system in Tourette syndrome.


Assuntos
Nível de Alerta/fisiologia , Atenção/fisiologia , Sistema Nervoso Autônomo/fisiopatologia , Síndrome de Tourette/fisiopatologia , Adolescente , Adulto , Pressão Sanguínea/fisiologia , Catecolaminas/sangue , Feminino , Frequência Cardíaca/fisiologia , Humanos , Masculino , Resolução de Problemas/fisiologia , Síndrome de Tourette/diagnóstico , Síndrome de Tourette/psicologia
14.
Psychopharmacology (Berl) ; 127(3): 231-7, 1996 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-8912401

RESUMO

Antidepressant effects of mirtazapine and imipramine were compared in a randomized, double blind, fixed blood-levels study with in-patients in a single centre. Patients with a DSM-III-R diagnosis of major depression and a Hamilton (17-item) score of > or = 18 were selected. After a drug-free and a placebo-washout period of 7 days in total, 107 patients still fulfilling the HRSD criterion of > or = 18, started on active treatment. The dose was adjusted to a predefined fixed blood level to avoid suboptimal dosing of imipramine. Concomitant psychotropic medication was administered only in a few cases because of intolerable anxiety or intolerable psychotic symptoms. Eight patients dropped out and two were excluded from analyses because of non-compliance; 97 completed the study. According to the main response criterion (50% or more reduction on the HRSD score) 11/51 (21.6%) patients responded on mirtazapine and 23/46 (50%) on imipramine after 4 weeks' treatment on the predefined blood level. Such a dramatic difference in efficacy between antidepressants has not often been reported before. The selection of (severely ill) in-patients, including those with suicidal or psychotic features, may have significance in this respect. Optimization of treatment with the reference drug imipramine through blood level control, exclusion of non-compliance for both drugs, exclusion of most concomitant medication and a low drop-out rate may also have contributed. It is concluded that imipramine is superior to mirtazapine in the patient population studied.


Assuntos
Antidepressivos Tricíclicos/uso terapêutico , Transtorno Depressivo/tratamento farmacológico , Imipramina/uso terapêutico , Mianserina/análogos & derivados , Adulto , Idoso , Antidepressivos Tricíclicos/sangue , Método Duplo-Cego , Feminino , Humanos , Imipramina/sangue , Masculino , Mianserina/sangue , Mianserina/uso terapêutico , Pessoa de Meia-Idade , Mirtazapina , Escalas de Graduação Psiquiátrica
15.
J Am Acad Child Adolesc Psychiatry ; 35(5): 672-80, 1996 May.
Artigo em Inglês | MEDLINE | ID: mdl-8935215

RESUMO

OBJECTIVE: Variability in the clinical phenotype of Tourette's disorder (TD) was assessed in a single large family, with a focus on the influence of bilineal transmission. METHOD: Tics, obsessive-compulsive symptoms, and attention-deficit symptoms were evaluated through interview and standardized checklists for 175 descendants and 16 spouses who married into a single four-generation pedigree. RESULTS: Some form of tic disorder was diagnosed in 67% of descendants and 44% of married-in spouses. TD was found in 36% of descendants and in 31% of married-in spouses. Impairment was minimal in most cases, but age at onset and location and number of tics were typical of TD described in clinic samples. Obsessive-compulsive symptoms were found in 38% of descendants and 62% of those with current TD, but obsessive-compulsive disorder was found in only four individuals. Attention-deficit hyperactivity disorder occurred in 25% of children. Multivariate analysis indicated that offspring of two parents with tic disorders manifested significantly more lifetime tics, more severe categories of tic disorders, and an earlier age at onset for TD compared with offspring of one or no affected parents. CONCLUSIONS: TD in this family is most often a mild disorder but otherwise similar to published clinical cases. Increased morbidity is significantly associated with bilineality. The frequency and impact of bilineality raise questions about possible assortative mating, the prevalence of TD, and assumed mechanisms of transmission and etiology.


Assuntos
Variação Genética , Fenótipo , Síndrome de Tourette/genética , Adolescente , Adulto , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/genética , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Modelos Genéticos , Transtorno Obsessivo-Compulsivo/diagnóstico , Transtorno Obsessivo-Compulsivo/genética , Transtorno Obsessivo-Compulsivo/psicologia , Linhagem , Fatores de Risco , Síndrome de Tourette/diagnóstico , Síndrome de Tourette/psicologia
16.
Am J Hum Genet ; 57(3): 682-9, 1995 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-7668298

RESUMO

Segregation analysis incorporating assortative mating was used to test for major locus inheritance of Tourette syndrome in a single large pedigree containing 182 members. The analysis provided evidence of a major locus with an intermediate inheritance pattern for which the penetrance was estimated from the data as 28% in heterozygotes and 98%-99% in homozygotes. A significant assortative mating correlation was estimated from the data as 70%-79%. In contrast, when assortative mating was not included in the model, intermediate inheritance was not inferred. If, in addition, constancy of the allele frequencies across generations was not assumed, Mendelian transmission was rejected. Each subject, affected or unaffected, was assigned a score reflecting the presence and severity of symptoms. Higher means scores in affected homozygotes than in affected heterozygotes suggested greater severity in homozygotes: genotype information was obtained from genotype probabilities computed assuming intermediate inheritance.


Assuntos
Modelos Genéticos , Comportamento Sexual , Síndrome de Tourette/genética , Adolescente , Criança , Humanos , Linhagem
17.
Am J Hum Genet ; 57(2): 465-73, 1995 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-7668273

RESUMO

For a linkage study it is important to ascertain family material that is sufficiently informative. The statistical power of a linkage sample can be determined via computer simulation. For complex traits uncertain parameters such as incomplete penetrance, frequency of phenocopies, gene frequency and variable expression have to be taken into account. One can either include only the most severe phenotype in the analysis or apply multiple linkage tests for a gradually broadened disease phenotype. Gilles de la Tourette syndrome (GTS) is a chronic neurological disorder characterized by multiple, intermittent motor and vocal tics. Segregation analyses suggest that GTS and milder phenotypes are caused by a single dominant gene. We report here the results of an extensive simulation study on a large set of families. We compared the effectiveness of linkage tests with only the GTS phenotype versus multiple tests that included various milder phenotypes and different gene frequencies. The scenario of multiple tests yielded superior power. Our results show that computer simulation can indicate the strategy of choice in linkage studies of multiple, complex phenotypes.


Assuntos
Ligação Genética , Síndrome de Tourette/genética , Mapeamento Cromossômico , Frequência do Gene , Humanos , Escore Lod , Linhagem , Fenótipo
19.
J Behav Ther Exp Psychiatry ; 25(3): 255-60, 1994 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-7852608

RESUMO

A model is proposed in which motor tics are considered to be tension reducing responses to a specific sensory stimulus. It is hypothesized that the sensory stimulus is of a proprioceptive nature. The first phase of therapy concerns the identification of the stimulus. The patient is then taught a socially acceptable, alternative response, which also reduces the sensory stimulus. Two case reports illustrate this model. The applicability of the model with respect to other movement disorders is discussed.


Assuntos
Nível de Alerta , Terapia Comportamental/métodos , Terapia de Relaxamento , Transtornos de Tique/terapia , Síndrome de Tourette/terapia , Humanos , Masculino , Relaxamento Muscular , Propriocepção , Comportamento Estereotipado , Estresse Psicológico/complicações , Transtornos de Tique/psicologia , Síndrome de Tourette/psicologia
20.
J Cardiovasc Pharmacol ; 22(1): 112-9, 1993 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-7690082

RESUMO

Effects of four intravenous (i.v.) doses (0.25, 0.5, 1, and 2 micrograms/kg) of the alpha 2-adrenoceptor agonist clonidine (CLO) were studied in 7 normotensive male volunteers in a placebo-controlled double-blind randomized design to evaluate the role of alpha 2-adrenoceptors in spontaneous short-term cardiovascular fluctuations. Heart rate (HR), systolic and diastolic blood pressure (SBP, DBP; Finapres device), stroke volume (SV) and total peripheral resistance (TPR) were monitored for 1 h after infusion of CLO while the subjects rested in a semirecumbent position. For HR, SBP, and DBP, power spectra and variation coefficients were calculated for consecutive time segments of 2.5 min. Power density was assessed for three frequency bands: low (LFB, 0.02-0.06 Hz), mid (MFB, 0.07-0.14 Hz), and high (HFB, 0.15-0.40 Hz). Per time-segment, baroreflex sensitivity (BRS) was estimated as the gain (or modulus) in MFB between systolic pressure values and R-R interval times. Decreases in mean levels of SBP and DBP were observed within 15 min after infusion of > or = 0.5 micrograms/kg CLO. HR first showed a slight increase 15 min after infusion of 0.5, 1, and 2 micrograms/kg CLO, but decreased subsequently as in all doses, including placebo. SV and TPR decreased after a dose of 2 micrograms/kg CLO. LFB and MFB power of HR were reduced after 2 micrograms/kg CLO, but only during the first 30 min after infusion; during this period, respiratory depth was also diminished, indicating that these effects may reflect a reduction in sympathetic outflow as well as a reduction in vagal outflow.(ABSTRACT TRUNCATED AT 250 WORDS)


Assuntos
Sistema Cardiovascular/efeitos dos fármacos , Clonidina , Adulto , Pressão Sanguínea/efeitos dos fármacos , Relação Dose-Resposta a Droga , Método Duplo-Cego , Frequência Cardíaca/efeitos dos fármacos , Humanos , Masculino , Respiração/efeitos dos fármacos , Análise Espectral , Fatores de Tempo
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