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1.
Mol Psychiatry ; 13(1): 90-8, 2008 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-17505466

RESUMO

Melatonin is produced in the dark by the pineal gland and is a key regulator of circadian and seasonal rhythms. A low melatonin level has been reported in individuals with autism spectrum disorders (ASD), but the underlying cause of this deficit was unknown. The ASMT gene, encoding the last enzyme of melatonin synthesis, is located on the pseudo-autosomal region 1 of the sex chromosomes, deleted in several individuals with ASD. In this study, we sequenced all ASMT exons and promoters in individuals with ASD (n=250) and compared the allelic frequencies with controls (n=255). Non-conservative variations of ASMT were identified, including a splicing mutation present in two families with ASD, but not in controls. Two polymorphisms located in the promoter (rs4446909 and rs5989681) were more frequent in ASD compared to controls (P=0.0006) and were associated with a dramatic decrease in ASMT transcripts in blood cell lines (P=2 x 10(-10)). Biochemical analyses performed on blood platelets and/or cultured cells revealed a highly significant decrease in ASMT activity (P=2 x 10(-12)) and melatonin level (P=3 x 10(-11)) in individuals with ASD. These results indicate that a low melatonin level, caused by a primary deficit in ASMT activity, is a risk factor for ASD. They also support ASMT as a susceptibility gene for ASD and highlight the crucial role of melatonin in human cognition and behavior.


Assuntos
Acetilserotonina O-Metiltransferasa/genética , Transtorno Autístico/genética , Melatonina/biossíntese , Acetilserotonina O-Metiltransferasa/metabolismo , Adolescente , Adulto , Transtorno Autístico/enzimologia , Estudos de Casos e Controles , Criança , Feminino , Humanos , Masculino , Análise por Pareamento , Melatonina/metabolismo , Pessoa de Meia-Idade , Linhagem , Polimorfismo Genético , Regiões Promotoras Genéticas/genética , Valores de Referência
2.
Encephale ; 33(4 Pt 1): 585-91, 2007 Sep.
Artigo em Francês | MEDLINE | ID: mdl-18033147

RESUMO

UNLABELLED: Social deficit is the core symptom of pervasive developmental disorder. In other child psychiatric disorders, social problems are also described but mainly as a result of the disease symptomatology. However, some recent studies suspect that in several disorders such as attention deficit hyperactive disorder, patients have an endogenous social disturbance. The aim of our research was to study abnormal child social behaviour in several disorders, using a dimensional approach. It is a preliminary validation study of the French version of the Children's Social Behaviour Questionnaire, a dimensional instrument constructed by Luteijn, Minderaa et al. METHODOLOGY: Five clinical groups, according to the DSM IV criteria, formed a population of 103 children aged 6 to 16 years old: autistic disorder, attention deficit hyperactive disorder (ADHD), emotional disorder (anxious, depressed), mental retardation and normal children. Parents completed the Child Behaviour Checklist (CBCL) and the Children's Social Behaviour Questionnaire (CSBQ). The research worker and the child's physician completed a data form. The data form included information about medical history, development and socio-demographic criteria. The CBCL explored children's behaviours and general psychopathology, and included social dimensions (withdrawn, social problems, aggressive/delinquent behaviours, thought problems). The CSBQ, a dimensional questionnaire, explored children's social behaviours and included five dimensions: <>, <>, <>, <>, <>. The English version of the CSBQ, validated with in the Netherlands Dutch population was translated into French and the translation was validated (double back translation). As the CBCL and CSBQ questionnaires are both dimensional instruments, dimensions have been compared. All instrument results were analysed separately; correlations and comparisons were made between groups. RESULTS: Correlations between CSBQ and CBCL dimensions are consistent. Positive correlations exist for: <> dimension with <>, <> and <>; <> with <> and <>; <> with <> and <>; <> with <>, <> and <>; social stereotypes>> with <>. Mean CSBQ results are as follows: 1. autistic group has the highest score for the <> dimension, ADHD group has the highest score for the <> dimension, mental retardation group has the highest score for the <> dimension. 2. comparisons between groups shows: significant difference between the autistic and ADHD groups for <> and <> but not for <> and <>; between the autistic and mental retardation groups, there is a significant difference for <> but not for the other dimensions; between the ADHD and mental retardation groups, there is a significant difference only for <>; there is no significant difference between the ADHD and emotional groups; control group has very low scores. CBCL results are: abnormal scores in all groups except normal control group, for <> and <>; abnormal scores in the autistic and emotional groups for <>, <> and <>; abnormal scores in the ADHD group for <>, <> and <>; the <> score is borderline. DISCUSSION: Social behaviour profiles are different and characteristic for each disorder. However, social symptoms are not specific for one disorder and common social signs do exist between different disorders. Our results are concordant with the Luteijn study and literature data. The results support the hypothesis of a dimensional pathogenesis in social behaviour disturbance. We discuss the benefit of a dimensional approach to complete the categorical one. The Children's Social Behaviour Questionnaire seems to be an interesting instrument to explore social behaviour disturbances in several child disorders.


Assuntos
Idioma , Comportamento Social , Inquéritos e Questionários , Criança , França , Humanos , Reprodutibilidade dos Testes
4.
Encephale ; 31(6 Pt 1): 666-71, 2005.
Artigo em Francês | MEDLINE | ID: mdl-16462685

RESUMO

In obsessive-compulsive disorder (OCD), clinical, neurobiological and genetic differences have been reported according to age at onset (AAO). Given the importance of identifying homogeneous subtypes in complex hete-rogeneous disorders such as OCD, it would be particularly useful to identify a specific cognitive profile associated with early-onset OCD. Although impaired cognition has repea-tedly been demonstrated in OCD patients, discrepancies between studies have hampered the identification of a precise cognitive dysfunction. Executive dysfunction has often been reported, but findings have not always been replicated. The aim of this study was to assess executive functions in 30 patients according to their AAO. The sample consisted of 15 early-onset and 15 late-onset OCD patients and 22 normal controls, matched for age, sex and socio-economic status. Various aspects of executive function were assessed with five neuropsychological tests: Tower of London, Trail Making Test, Verbal Fluency, Design Fluency and Association Fluen-cy. The 30 OCD patients obtained lower total scores than the controls in the Tower of London test and association fluen-cy task (p<0.05 and p<0.001, respectively). Impairments were more marked for the early-onset group, with no effect of gender or age at interview. Deficits in specific aspects of frontal lobe function were found in the OCD group and were particularly pronounced within the early-onset group. These findings confirm clinical data suggesting that OCD patients can be subtyped according to age at onset and that OCD patients present unusual cognitive characteristics. They also support the hypothesis that early-onset OCD might be a rele-vant subgroup characterised both by a particular clinical profile and by specific cognitive characteristics.


Assuntos
Transtornos Cognitivos/epidemiologia , Cultura , Transtorno Obsessivo-Compulsivo/epidemiologia , Transtorno Obsessivo-Compulsivo/psicologia , Adolescente , Fatores Etários , Idade de Início , Criança , Transtornos Cognitivos/diagnóstico , Feminino , Humanos , Masculino , Testes Neuropsicológicos
6.
Eur Psychiatry ; 19(3): 182-4, 2004 May.
Artigo em Inglês | MEDLINE | ID: mdl-15158930

RESUMO

AIM: - To study the types of psychiatric problem encountered in children infected with the human immunodeficiency virus (HIV) and their relationship to central nervous system disorder and the severity of infection. METHODS: - 17 HIV-infected children presenting with psychiatric problems were included. Mental disorders were evaluated according to DSM-IV criteria. Neurological disorders and progressive encephalopathy (presence or absence) diagnosis were evaluated by clinical and radiological examination. The severity of infection was assessed by the percentage of CD4 lymphocytes. RESULTS: - The most frequent diagnoses were major depression (MDD: 47%) and attention deficit hyperactivity disorder (ADHD: 29%). Major depression diagnosis was significantly associated with neuroimaging or clinical neurological abnormalities (p < 0.01). In contrast, no association was found between hyperactivity diagnosed according to DSM-IV criteria and central nervous system disorder. Percentage of CD4 lymphocytes were close to 0 for more than 80% of children presenting with psychiatric complications. CONCLUSION: - The very low % of CD4 lymphocytes of these children suggest that the appearance of a psychiatric complication should be regarded as a factor indicating severe HIV infection. Depressive disorders may be a clinical form of encephalopathy.


Assuntos
Complexo AIDS Demência/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade , Manual Diagnóstico e Estatístico de Transtornos Mentais , Infecções por HIV/epidemiologia , Transtornos Mentais/epidemiologia , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Antígenos CD4/imunologia , Criança , Feminino , Infecções por HIV/imunologia , HIV-1 , Humanos , Masculino
7.
Encephale ; 30(2): 122-34, 2004.
Artigo em Francês | MEDLINE | ID: mdl-15107714

RESUMO

Structured diagnostic interviews, which evolved along the development of classification's systems, are now widely used in adult psychiatry, in the fields of clinical trials, epidemiological studies, academic research as well as, more recently, clinical practice. These instruments improved the reliability of the data collection and interrater reliability allowing greater homogenisation of the subjects taking part in clinical research, essential factor to ensure the reproducibility of the results. The diagnostic instruments, conversely to the clinical traditional diagnostic processes allow a systematic and exhaustive exploration of disorders, diagnostic criteria but also severity levels, and duration. The format of the data collection, including the order of exploration of the symptoms, is fixed. The formulation of the questions is tested to be univocal, in order to avoid confusions. In child and adolescent, researches in pharmacology and epidemiology increased a lot in the last decade and the standardisation of diagnostic procedures is becoming a key feature. This Article aims to make an assessment, a selection, and a description of the standardized instruments helping psychiatric diagnosis currently available in the field of child and adolescent's psychiatry. Medline and PsycINFO databases were exhaustively checked and the selection of the instruments was based on the review of four main criteria: i) compatibility with international diagnostic systems (DSM IV and/or ICD-10); ii) number of disorders explored; iii) peer reviewed Journals and iv) richness of psychometric data. After the analysis of the instruments described or mentioned in the literature, 2 structured interviews [the Diagnostic Interview Schedule for Children (DISC) and the Children's Interview for Psychiatric Syndromes (ChIPS)] and 4 diagnostic semi-structured interviews [the Schedule for Affective Disorders and Schizophrenia for School-Age Children (Kiddie-SADS), the Diagnostic Interview for Children and Adolescent (DICA), the Child and Adolescent Psychiatric Assessment (CAPA) and the Interview Schedule for Children and Adolescents ISCA)] were retained according to the 3 first criteria. All can be administered by clinicians, and x out of 6 can also be administered by lay-interviewers. All include a child/adolescent version and a parent version. Two instruments evaluate the presence of DSM IV axe II disorders: The ISCA explores the criteria of the Antisocial Personality Disorder. The CAPA evaluates Borderline, Obsessional-compulsive, Histrionic and Schizotypic Personality Disorders. Regarding the psychometric quality criterion, the selection was much more difficult because of the lack of data and the weakness of the samples studied in reliability studies. Interrater reliability appeared to be good for the 6 instruments, with kappas ranging from 0.5 to 1. This is usual in such instruments. The test-retest reliability was found to vary from bad to excellent depending on the instruments, the "informant" status (child/adolescent or parent), and the disorder explored, kappas ranging from 0.32 to 1. The worst results concerned face-to-face reliability studies which showed weak concordances for the diagnoses, whatever the procedure implemented: Diagnostic interview vs. i) Another diagnostic interview, vs. ii) An expert diagnosis or vs. iii) Scales and questionnaires. Overall, the K-SADS-PL appeared to be the instrument that has the best test-retest reliability for Anxious Disorders and Affective Disorders (the value kappa showing good to excellent reliabilities). Several important methodological observations emerged from this review. Firstly, the metrological data corresponding to the diagnoses according to DSM IV or ICD-10 criteria's were lacking. The face validity was globally satisfactory, but the data concerning their face-to-face validities and their test-retest reliability, although better than in the former versions, were limited because they were tested on small sample. In fact, it appeared that the agreements depend on the informant, the sample studied, the various diagnostic categories and the instrument used. Since the studies carried out by Cohen et al., with now obsolete versions of the DISC and K-SADS, no other study establishing a comparison between two EDS have been conducted. Consequently, the clinicians must be very careful before comparing DSM or ICD diagnoses generated by different instruments. The second point was the length of the interviews that appeared sometimes longer than instruments used in adults, considering the fact that diagnostic procedure implies two independent interviews, one with the child/adolescent and one with the adult referent. The minimum duration was found to be 1 h 30 for the Chips in clinical setting, while it could reach 4 h or more for the DISC IV or the ISCA. The interviews had to be often carried out in several sessions, so the assessment became very difficult in easily tired and/or distractible subjects. The third point referred to the necessity to consider multiple data sources in young patients during the diagnostic procedure, and the weakness of the levels of agreement generally reported between sources. Empirically, it was observed that the investigator granted more weight to the report of the children than to the parent's one, when the clinical judgement was necessary to synthesize the data. On another level, studies showed a high agreement on the factual contents or on the specific events (ex: hospitalization), like on the obvious symptoms (ex: enuresis). The parents report more problems of behaviour, school and relational difficulties, whereas the children report more fear, anxiety, obsessions and compulsions, or delusional ideas. In other words, it appeared that children were better informants in describing their mental states (internalised disorders), and that adults would bring more reliable information in describing externalised disorders. Like McClellan and Werry, we think that further researches are needed to clarify if and when this is the case. The last major point concerned the problem of language. These instruments must be used in the maternal language of the interviewees and they were developed for most of them into English only. For example, there is only one instrument available into French (the Kiddie SADS). Nowadays, it remains difficult to conduct international studies in child and adolescent psychiatry and/or to compare data is this domain. To conclude, the use of the EDS and EDSS brings many benefits, in academic researches as well as in clinical practice, but a more systematic use is limited by a certain number of parameters. The instruments currently available in child and adolescent are far from being optimal in terms of quality and quantity. It seems necessary and useful to contribute to their development and their improvement. In particular, the following points should be considered: drastic reduction of the length of the interviews; simplification in the use of these instruments, during the interviews, but also in the treatment of the data collected during the final phase of diagnosis generation, the clinician having to carry out ceaseless returns to check the presence or not of each diagnostic criterion; reduction of the duration of the highly necessary training, which can be easily solved by the global simplification of the instruments; quantitative and qualitative improvements of psychometric properties, in particular in terms of sensitivity, specificity and face-to-face validity. Finally, it is highly necessary to continue to develop structured diagnostic interviews adapted to the assessment of child and adolescent psychiatric diagnoses keeping in mind simplicity, feasibility and reliability. Developing this kind of instruments is hard, expensive, and sometimes tiresome but it remains the inescapable stage to produce high quality data in the future.


Assuntos
Entrevista Psicológica , Transtornos Mentais/diagnóstico , Psiquiatria/métodos , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Classificação Internacional de Doenças , Masculino , Escalas de Graduação Psiquiátrica , Reprodutibilidade dos Testes , Índice de Gravidade de Doença
8.
Arch Pediatr ; 11(4): 347-9, 2004 Apr.
Artigo em Francês | MEDLINE | ID: mdl-15051095

RESUMO

UNLABELLED: Continuous spikes and waves during slow wave sleep syndrome (CSWS) is a seldom form of epilepsy which may manifest by neurocognitive and/or psychiatric abnormalities, with or without clinical seizures. CASE REPORT: A 5-year-old child was presented with a language disorder and behaviour abnormalities. A standard electroencephalograph (EEG) showed left tempororolandic spikes waves without any electrical discharges. Cerebral imaging excluded an underlying expansive disease. A continuous EEG recording revealed a CSWS syndrome by showing continuous and diffuse spike waves during slow wave sleep. Thanks to antiepileptic medications and orthophonic therapy, evolution was positive. CONCLUSION: In complex cases of language and behavioural disorders, it is necessary to perform an EEG even in the absence of convulsive seizures, to diagnose a CSWS syndrome. Given the etiological and treatment difficulties concerning the CSWS, a treatment with antiepileptic seems necessary. EEG normalisation under antiepileptic medications usually leads to significant, although partial, neuropsychological improvement. Furthermore, orthophonic therapy seems useful as a complement to pharmacological treatment.


Assuntos
Epilepsia/complicações , Transtornos da Linguagem/etiologia , Transtornos do Sono-Vigília/fisiopatologia , Anticonvulsivantes/uso terapêutico , Pré-Escolar , Eletroencefalografia , Epilepsia/diagnóstico , Epilepsia/tratamento farmacológico , Humanos , Transtornos da Linguagem/tratamento farmacológico , Transtornos da Linguagem/fisiopatologia , Masculino , Transtornos do Sono-Vigília/tratamento farmacológico , Síndrome
10.
J Psychosom Res ; 55(3): 285-7, 2003 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-12932804

RESUMO

OBJECTIVES: To assess the prevalence of alexithymia in insulin-dependent diabetic mellitus (IDDM) outpatients. To examine whether alexithymia is associated with diabetic somatic variables, depression, and compliance. METHOD: Our sample comprised 69 diabetic outpatients followed in a university hospital. We assessed the prevalence of alexithymia (26-item Toronto Alexithymia Scale, TAS-26) and the relationships among alexithymia, depression (13-item Beck Depression Inventory, BDI-13), somatic diabetic variables (glycosylated hemoglobin, number of mild or severe hypoglycemia, somatic complications), and compliance (observer-rater scale completed by diabetologist). RESULTS: The prevalence of alexithymia in IDDM patients was low (14.4%). Alexithymia and depression, as measured by TAS-26 and BDI-13 scores, respectively, correlated with each other. Alexithymia was not correlated with glycemic control, somatic complications, or compliance. CONCLUSION: In our sample, alexithymia was related to depression and not to somatic factors or compliance.


Assuntos
Sintomas Afetivos/etiologia , Sintomas Afetivos/psicologia , Transtorno Depressivo/etiologia , Transtorno Depressivo/psicologia , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/psicologia , Adulto , Sintomas Afetivos/epidemiologia , Feminino , Humanos , Hipoglicemiantes/uso terapêutico , Masculino , Pacientes Ambulatoriais , Cooperação do Paciente , Prevalência , Escalas de Graduação Psiquiátrica
11.
Eur Child Adolesc Psychiatry ; 11(3): 101-7, 2002 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-12369768

RESUMO

The Emotionality Activity Sociability (EAS) questionnaire focuses on heritable individual differences in reactivity and behavior which are often referred to in developmental temperament research. Psychometric properties of the French version of EAS were examined in a sample of 197 school-children aged six to 12 years. Parents, teachers and children aged nine years and more completed parallel forms of the EAS questionnaire. Confirmatory factor analysis was used to examine the fit between the original factors and the data. Internal consistency of each subscale, inter-rater and external validity were also examined. Children-rated EAS showed the best indices of fit between the four hypothesized factors and the data, but internal consistency was generally lower than in adult-rated questionnaires. Shyness and sociability showed significant overlap in both parent and teacher-rated EAS. The low concordance between child and adult-ratings indicates that temperament evaluation and interpretation of items may be influenced by subjective and/or developmental factors. Results are discussed in the perspective of validity versus cross-cultural comparability of temperament measurement. The theoretical four-factor structure was not completely replicable in our sample.


Assuntos
Comparação Transcultural , Determinação da Personalidade/estatística & dados numéricos , Psicologia da Criança , Temperamento , Criança , Emoções , Análise Fatorial , Feminino , França , Humanos , Masculino , Pais/psicologia , Inventário de Personalidade/estatística & dados numéricos , Psicometria , Reprodutibilidade dos Testes , Responsabilidade Social , Inquéritos e Questionários
12.
Encephale ; 28(3 Pt 1): 234-40, 2002.
Artigo em Francês | MEDLINE | ID: mdl-12091784

RESUMO

Depression in children and adolescents is associated with poor psychosocial functioning, high psychiatric comorbidity, risk of recurrent episodes or onset of bipolar disorder. These findings emphasize the importance of early identification of children and adolescents having elevated risk for future depression and further development, evaluation and greater availability of prevention strategies. Our review aims an update about depressive vulnerability in children and adolescents in the perspective of better identification of at-risk populations and targeting of prevention programs. Psychopathology, in particular anxiety and disruptive disorders are well identified risk-factors for later depression. Subclinical depressive symptomatology, also termed "demoralization", also identifies high-risk populations, likely to become incident cases of depression. It is still unclear whether this condition is prodromal depression, a specific clinical entity or the expression of biological and/or cognitive vulnerability. Familial risk for depressive disorders involves both genetic and psychosocial factors. Marital discord, poor communication and dysfunctional parenting practices are often present in families with affective disorders and can be implicated in increased depressive vulnerability in the offspring. Research on individual vulnerability in children and adolescents has focused on temperamental and cognitive characteristics. Temperament traits describe individual differences in reactivity and behavior. High emotionality, defined as the tendency to become upset easily and intensely has been associated with an increased risk for subsequent major depression. However, as the majority of high scorers will not become depressive cases, emotionality should not be the only criterion for selection of at-risk populations. Cognitive style including poor self esteem, low social competence and negative attributions are also associated with increased likelihood of depressive symptoms, but their predictive value for the onset of clinical depressive episodes needs further investigation. Familial and individual vulnerability is likely to heighten the depressogenic impact of life events and psycho-social adversity. Prevention interventions have been developed in the United States for children and adolescents at-risk for depression. In France, clinicians witness growing demands from families with affective illness concerned with risk of parent-child transmission of depressive vulnerability, prevention and early identification of symptoms. To meet this kind of emerging needs and to prevent family dysfunction, a preventive program targets offspring of depressed parents and uses clinician-based family approaches. Family and individual sessions aim a better understanding of illness experience and encourage the parents to identify and foster resilience in their children. Another type of preventive intervention focuses on children and adolescents with subclinical depressive symptoms, eventually associated with behavioral problems ou high level of parental conflict, recruited in school settings. These school-based interventions combine cognitive and social problem-solving techniques. Both familial and school-based preventive interventions have proven applicable and promising in high-risk children and adolescents. Perspectives are more systematic identification of risk groups, including youngsters with past or current non affective symptoms who might benefit from depression prevention, long-term evaluation and cross-cultural applications of prevention programs.


Assuntos
Transtorno Depressivo/psicologia , Adolescente , Transtorno Bipolar/diagnóstico , Transtorno Bipolar/prevenção & controle , Transtorno Bipolar/psicologia , Criança , Filho de Pais com Deficiência/psicologia , Transtorno Depressivo/diagnóstico , Transtorno Depressivo/prevenção & controle , Feminino , Humanos , Masculino , Fatores de Risco , Meio Social , Temperamento
13.
Presse Med ; 31(4): 151-7, 2002 Feb 02.
Artigo em Francês | MEDLINE | ID: mdl-11865721

RESUMO

OBJECTIVE: Evaluate the correlation between psychopathological disorders in type 1 insulin-dependent diabetic (IDD) children and adolescents and the occurrence of micro-angiopathic complications. METHODS: Two hundred and five IDD children (104 girls and 101 boys with a mean age of 13.4 +/- 3.5 years on inclusion) were longitudinally monitored between 1994 and 2000. Somatic complications were systematically searched for during a yearly control visit to the day hospital. Psychiatric disorders had been assessed initially by self-administered questionnaires filled-in by the children (Spielberger's STAIC-Trait for anxiety, CESD for depression and Child-EAT for eating habits), by the parents (CBCL, CPRS or GHQ-28) or the principle teachers (CTRS) and diagnostic screening of psychopathological disorders every year. RESULTS: More than 140% of the IDD children (n = 86) were diagnosed DSM-IV, with predominant anxiety (n = 41), during the longitudinal evaluation. Positive screening was significantly associated with higher psychopathological scores before inclusion in the study, with children considered more perturbed by the parents, teachers and the children themselves and mothers who considered themselves more perturbed (GHQ-28 mean 5.6 +/- 7.5 vs. 3.5 +/- 4.8; t = 2.211 p = 0.028). These children were less compliant. Disorders were associated with metabolic imbalance, measured by HbA1c, overweight and an excess of micro-angiopathic, particularly retinopathic, complications. CONCLUSION: Our results show the frequency of mental disorders in IDD children, the importance of the parents' psychopathology and its association with increased somatic risk. The nature of this relationship requires clarification and the incidence of prevention measures targeted on the psychological problems. The interest of associating a paedopsychiatric element in the therapeutic management of these patients and their families is emphasized.


Assuntos
Transtornos de Ansiedade/etiologia , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/psicologia , Angiopatias Diabéticas/etiologia , Adolescente , Transtornos de Ansiedade/epidemiologia , Criança , Angiopatias Diabéticas/epidemiologia , Feminino , Humanos , Incidência , Estudos Longitudinais , Masculino , Saúde Mental , Fatores de Risco
14.
Mol Psychiatry ; 7(1): 67-71, 2002.
Artigo em Inglês | MEDLINE | ID: mdl-11803447

RESUMO

Previous studies have provided conflicting evidence regarding the association of the serotonin transporter (5-HTT) gene with autism. Two polymorphisms have been identified in the human 5-HTT gene, a VNTR in intron 2 and a functional deletion/insertion in the promoter region (5-HTTLPR) with short and long variants. Positive associations of the 5-HTTLPR polymorphism with autism have been reported by two family-based studies, but one found preferential transmission of the short allele and the other of the long allele. Two subsequent studies failed to find evidence of transmission disequilibrium at the 5-HTTLPR locus. These conflicting results could be due to heterogeneity of clinical samples with regard to serotonin (5-HT) blood levels, which have been found to be elevated in some autistic subjects. Thus, we examined the association of the 5-HTTLPR and VNTR polymorphisms of the 5-HTT gene with autism, and we investigated the relationship between 5-HTT variants and whole-blood 5-HT. The transmission/disequilibrium test (TDT) revealed no linkage disequilibrium at either loci in a sample of 96 families comprising 43 trios and 53 sib pairs. Furthermore, no significant relationship between 5-HT blood levels and 5-HTT gene polymorphisms was found. Our results suggest that the 5-HTT gene is unlikely to play a major role as a susceptibility factor in autism.


Assuntos
Transtorno Autístico/genética , Proteínas de Transporte/genética , Glicoproteínas de Membrana/genética , Proteínas de Membrana Transportadoras , Repetições Minissatélites , Proteínas do Tecido Nervoso , Polimorfismo Genético , Deleção de Sequência , Serotonina/sangue , Adolescente , Adulto , Alelos , Transtorno Autístico/sangue , Plaquetas/metabolismo , Proteínas de Transporte/fisiologia , Criança , Pré-Escolar , Feminino , Heterogeneidade Genética , Predisposição Genética para Doença , Haplótipos/genética , Humanos , Íntrons/genética , Desequilíbrio de Ligação , Masculino , Glicoproteínas de Membrana/fisiologia , Mutagênese Insercional , Fatores de Risco , Proteínas da Membrana Plasmática de Transporte de Serotonina
15.
Mol Psychiatry ; 7(1): 90-4, 2002.
Artigo em Inglês | MEDLINE | ID: mdl-11803452

RESUMO

Several case-control association studies have raised the possibility that the A allele of a -1438 G/A polymorphism in the type 2A serotonin receptor (HTR2A) gene may be a risk factor for anorexia nervosa. However the absence of linkage and the existence of negative association studies raise the possibility of false positive findings, resulting from population stratification or lack of statistical power. To address this controversy we recruited a sample of 316 patients with anorexia nervosa from six European centres, and utilised a family-based transmission disequilibrium (TDT) approach to analyse the HTR2A-1438 G/A polymorphism. Age at onset and minimal BMI were also taken into consideration in order to detect clinical heterogeneity or a quantitative trait effect. The TDT approach showed that the A allele was transmitted 133 times and not transmitted 148 times (McNemar chi(2) = 0.29, df = 1, P = 0.59). Also, the haplotype-based haplotype relative risk method showed no evidence for association of the A allele, in samples from each centre (chi(2) < 2.15, df = 1, P > 0.14) and in the total sample (chi(2) = 0.55, df = 1; P = 0.46). Furthermore, we found no evidence for heterogeneity of the A allele frequency between samples (chi(2) = 2.54, df = 4, P = 0.64), either according to minimal-BMI (F1/242 = 2.14, P = 0.45) or age at onset (F1/224 = 2.39; P = 0.12). QTL-TDT analyses also showed no direct role of the A allele on these traits. We thus found no evidence for a significant role of the 5-HT(2A) gene in anorexia nervosa. Previous results may have been exposed to stratification bias (which we controlled by the TDT method) and/or the risk of type 1 error (from which we were less exposed because of the sample size).


Assuntos
Anorexia Nervosa/genética , Mutação Puntual , Polimorfismo de Nucleotídeo Único , Regiões Promotoras Genéticas/genética , Receptores de Serotonina/genética , Adolescente , Idade de Início , Alelos , Anorexia Nervosa/epidemiologia , Viés , Índice de Massa Corporal , Fatores de Confusão Epidemiológicos , Europa (Continente)/epidemiologia , Heterogeneidade Genética , Predisposição Genética para Doença , Haplótipos/genética , Humanos , Desequilíbrio de Ligação , Receptor 5-HT2A de Serotonina , Risco
16.
Presse Med ; 30(30): 1489-95, 2001 Oct 20.
Artigo em Francês | MEDLINE | ID: mdl-11712206

RESUMO

OBJECTIVE: The purpose of this study was to evaluate the type and frequency of psychopathological disorders observed in obese children and adolescents. We also looked for a correlation between psychic disorders in the obese children, the degree of obesity and paternal psychopathology. PATIENTS AND METHODS: The study group included 84 obese children and adolescents aged 5 to 16 years (mean age 10.9 +/- 2.8 years). There were 55 girls and 29 boys. The z-score expressing deviation from the ideal body mass index (IMC) varied from +2 to +10.6 (mean 4 + 1.9). Psychopathological disorders observed in these obese patients were compared in children and adolescents with insulin-dependent diabetes mellitus. The standard diagnostic interview (K-SADS PL) and self-administered questionnaires (Sielberger STAIC-Trait for anxiety and CDI for depression in children or CBCL or GHQ for their parents) were also used to evaluate psychic disorders. RESULTS: More than half of the obese children (47 out of 84) had a DSM-IV diagnosis, often involving anxiety (n = 28). The rate of internalized and externalized psychopathological disorders (measured by STAIC-Trait and CBCL) was higher in the obese children than in the diabetics. The children's psychopathological disorders were more marked if their parents were perturbed, particularly when their mother had an internalized disorder. No correlation was found between the degree obesity and psychopathological disorders in the obese children and adolescents. CONCLUSION: Our findings show the frequency of mental disorders in obese children and point out the importance of parental psychopathology. This underlines the usefulness of a pedopsychiatric approach implicating the entire family for therapeutic management of these patients.


Assuntos
Transtornos Mentais/complicações , Obesidade/complicações , Obesidade/psicologia , Pais , Adolescente , Fatores Etários , Análise de Variância , Criança , Pré-Escolar , Interpretação Estatística de Dados , Diabetes Mellitus Tipo 2/complicações , Pai , Feminino , Humanos , Entrevistas como Assunto , Masculino , Transtornos Mentais/diagnóstico , Mães , Inventário de Personalidade , Inquéritos e Questionários , Escala de Ansiedade Frente a Teste
17.
Arch Mal Coeur Vaiss ; 94(5): 494-8, 2001 May.
Artigo em Francês | MEDLINE | ID: mdl-11434018

RESUMO

Cardiac complications are common in adolescent anorexia nervosa and are the cause of a third of deaths. Some workers have reported prolongation of the QT interval and cases of sudden death in these patients. The aim of this study was two-fold: to assess the cardiac complications of anorexic adolescents and to determine the outcome after renutrition in the hospital setting. This was a prospective study of 48 consecutive cases (45 girls) with an average age of 14 +/- 2 years, admitted to the paedopsychiatric unit and fulfilling the DSM-IV criteria of anorexia nervosa. The digitised ECG, Holter ECG and echocardiography were recorded before and after renutrition. Anorexia nervosa was severe with a body mass index < 14 in 2/3 of cases. Over 2/3 of patients had bradycardia with a heart rate < 50/min in half the cases but normal chronotropic function on Holter monitoring. Prolongation of the QTc interval was demonstrated (QTc > 440 ms in 11/44 cases). Echocardiographic abnormalities, in particular left ventricular dysfunction (24/46) and pericardial effusion (12/46) were reversible after renutrition. There were no clinical or biological predictive factors for the occurrence of cardiac complications on admission. The authors confirm that cardiac complications of anorexia nervosa are common, usually benign and always reversible after renutrition in hospital. Therefore, most electrical abnormalities normalise with the heart rate and echocardiographic abnormalities with improvement of conditions of load.


Assuntos
Anorexia Nervosa/complicações , Síndrome do QT Longo/etiologia , Estado Nutricional , Disfunção Ventricular Esquerda/etiologia , Adolescente , Bradicardia/etiologia , Eletrocardiografia , Feminino , Frequência Cardíaca , Humanos , Síndrome do QT Longo/terapia , Estudos Prospectivos , Resultado do Tratamento , Disfunção Ventricular Esquerda/terapia
18.
Eur Child Adolesc Psychiatry ; 10(1): 10-8, 2001 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-11315531

RESUMO

OBJECTIVES: To study posttraumatic disorders in children who were directly and indirectly involved in an industrial disaster; to assess the respective impact of traumatism exposure, parental disorders and sociodemographic variables on the posttraumatic disorders of the children. METHODS: The children were assessed with self-administered questionnaires (STAIC, CDI, IES) and questionnaires filled in by parents (CPRS, CBCL). Parents were assessed with the GHQ-28. Forty-three exposed children were compared with 44 children who were exposed to the same risk (indirectly exposed group) and with a control group of 50 unexposed children. RESULTS: The exposed group obtained significantly higher anxiety and trauma-related scores than the control group and the threatened group, as well as higher scores of behavioural symptoms and of parental disorders. Indirectly exposed children did not have higher rates of symptoms than control children. The younger exposed children exhibited the highest psychopathological scores. Low sociodemographic status was associated with more disorders. There were no differences on questionnaire scores between girls and boys. Children's disorders correlated with disorders in both parents; but this only accounted for part of the variance, a finding which supports the hypothesis of a direct impact of the trauma on the child, irrespective of parental clinical status, SES of the family, children's age and gender. CONCLUSIONS: Children's and parent's disorders interact in a complex fashion which needs further study.


Assuntos
Filho de Pais com Deficiência/psicologia , Desastres , Ferro , Mineração , Inventário de Personalidade/estatística & dados numéricos , Transtornos de Estresse Pós-Traumáticos/diagnóstico , Adolescente , Criança , Feminino , Seguimentos , França , Humanos , Masculino , Relações Pais-Filho , Psicometria , Transtornos de Estresse Pós-Traumáticos/psicologia
19.
Psychiatry Clin Neurosci ; 55(2): 97-103, 2001 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-11285086

RESUMO

Sleep disturbances can lead to symptoms of attention-deficit hyperactivity disorder (ADHD) in children. In the present study, we compared the sleep patterns of 30 children with ADHD, with those of 19 controls matched for age (5-10 years) and sex. Sleep patterns were recorded during one night, using polysomnography (PSG) and a video system in the sleep laboratory. Both ADHD children and controls were medication free and showed no clinical signs of sleep and alertness problems. An infrared camera was used to record all types of movement, which were scored and analyzed using specific software (Observer(R) 3.0; Noldus International, The Netherlands). No significant differences in sleep variables were found between ADHD children and controls. Polysomnography data showed no significant difference between the two groups. Attention-deficit hyperactivity disorder children moved more often than controls (upper limbs, P < 0.04; lower limbs, P < 0.03; all types, P < 0.003). The duration of movements was significantly longer in ADHD children (upper limbs, P < 0.03; all types, P < 0.02). The results of the video analysis were consistent with previous findings that ADHD children have higher levels of nocturnal activity than controls. This activity concerned mostly upper and lower limb movements. Futher studies are required to determine why noctural activity does not affect sleep continuity in a more significant way and whether it should be treated specifically.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Sono REM/fisiologia , Gravação de Videoteipe , Criança , Pré-Escolar , Processamento Eletrônico de Dados , Feminino , Humanos , Masculino , Polissonografia , Síndrome das Pernas Inquietas/diagnóstico , Síndrome das Pernas Inquietas/epidemiologia , Vigília/fisiologia
20.
Eur Psychiatry ; 16(1): 11-7, 2001 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-11246287

RESUMO

Many hypotheses have been made to explain the high rate of benzodiazepine consumption in France, including a general cultural and/or familial tendency to use certain types of psychotropic drugs. This study explored the association between lifetime medication use by parents and their children. Two hundred and twenty-one young patients (158 boys and 63 girls) consulting at a child and adolescent psychiatry department, six to 16 years of age (mean = 9.7 years), were screened for lifetime use of psychotropic drugs using a structured interview. Parents were asked about their own consumption, as well as their children's. Lifetime consumption rates (at least once) were 22.2% in boys and 20.6% in girls, and 19.6% in children less than 11 years old. Higher rates were found in patients with emotional disorders (anxiety disorders and depression). In parents, 45.1% of mothers and 24.1% of fathers reported using medications at least once. A significant association was found between child and parental medication use: 34.1% of children had positive lifetime consumption when their mothers also used medications at least once versus only 13.6% in other children (odds ratio = 3.31 [1.68-6.50]; P = 0.001). The most significant association was found between medication use by girls and their mothers (odds ratio = 12.1 [2.38-61.5]; P = 0.003). These data point to the existence of a family pattern of psychotropic drug consumption, especially in females.


Assuntos
Ansiolíticos/administração & dosagem , Família , Hipnóticos e Sedativos/administração & dosagem , Transtornos Relacionados ao Uso de Substâncias/epidemiologia , Adolescente , Adulto , Criança , Feminino , França/epidemiologia , Comportamentos Relacionados com a Saúde , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos Relacionados ao Uso de Substâncias/diagnóstico
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