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1.
Neurourol Urodyn ; 39(6): 1842-1848, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32542759

RESUMO

AIMS: Tuberous sclerosis complex (TSC) is a multisystem genetic disorder caused by a mutation in the TSC1 or TSC2 gene with a broad spectrum of physical and psychological manifestations. The aim of the study was to examine incontinence, psychological problems, and adaptive behavior skills in patients with TSC. METHODS: Through a worldwide TSC support group, 26 children (4-17 years) and 15 adults (18-50 years) with TSC were recruited (38.1% male, mean age 16.4 years). Parents or care-givers completed the Developmental Behavior Checklist (DBC), the Parental Questionnaire: Enuresis/urinary Incontinence, and the Vineland Adaptive Behavior Scales (3rd edition). RESULTS: A total of 60.0% of the participants had nocturnal enuresis (NE), 51.3% daytime urinary incontinence (DUI) and 52.4% fecal incontinence (FI). 65.4% of children and 50.0% of adults had a clinically relevant DBC score. Psychological symptoms were associated with at least one subtype of incontinence. The mean adaptive behavior composite (ABC) score of the patients was 57.2 (SD = 26.1), with 38.1% in the average or below-average range (IQ >70), 26.2% with a mild, 11.9% with a moderate and 23.8% with a severe/profound intellectual disability. The incontinence rate was significantly higher in the groups with a lower ABC score. CONCLUSION: A substantial proportion of patients with TSC are affected by incontinence and psychological symptoms. Incontinence was higher in persons with lower adaptive skills and those with at least one type of incontinence showed a significantly higher DBC score. As incontinence and psychological problems affect daily functioning and well-being, assessment, and treatment are recommended.


Assuntos
Incontinência Fecal/etiologia , Esclerose Tuberosa/complicações , Incontinência Urinária/etiologia , Adolescente , Adulto , Lista de Checagem , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pais , Inquéritos e Questionários , Adulto Jovem
2.
Eur Arch Psychiatry Clin Neurosci ; 268(4): 391-399, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28612143

RESUMO

There is growing evidence of an association between ADHD and rule-breaking behaviour and that subjects with ADHD are more likely to be involved in the legal system. However, the research on ADHD as a risk factor not only for delinquency but also for recidivism is scarce and findings are controversial. Therefore, we explored the impact of ADHD on the course of delinquency in a sample of incarcerated young men. We conducted a 15-year follow-up study by investigating the criminal records of 106 former youth prisoners. Criminal recidivism was operationalized through three variables: criminal recidivism; frequency of recidivism; and time to recidivism. The incremental predictive validity of ADHD was analysed using survival analysis and controlled for confounders associated with recidivism. Offenders with ADHD (n = 74) reoffended 2.5 times faster and showed a higher rate of recidivism and further incarcerations compared to non-ADHD offenders (n = 33), even when controlling for general risk factors such as antisocial personality disorder. Median survival rate ranged between 6 and 7 months in the ADHD groups and 25 months in the non-ADHD group. Our results revealed that ADHD has an incremental predictive power on criminal recidivism, even above general risk factors. Moreover, the criminogenic influence of ADHD appeared to be crucial in terms of the interplay of childhood ADHD, irrespectively of the persistence of the symptomatology into later life. Our findings therefore highlight the importance of early intervention and consequently prevention.


Assuntos
Transtorno da Personalidade Antissocial/etiologia , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Adolescente , Transtorno da Personalidade Antissocial/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Distribuição de Qui-Quadrado , Progressão da Doença , Humanos , Estudos Longitudinais , Masculino , Modelos de Riscos Proporcionais , Reincidência/estatística & dados numéricos , Estudos Retrospectivos , Adulto Jovem
3.
Clin Case Rep ; 5(5): 613-615, 2017 05.
Artigo em Inglês | MEDLINE | ID: mdl-28469861

RESUMO

Dravet syndrome is often caused by SCN1A mutations and has a wide variation in clinical appearance. Indication for genetic analysis should be an epileptic encephalopathy or severe clinical course of seizures in infants with episodes of fever before the first year of life.

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