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1.
Eur J Hum Genet ; 23(5): 588-95, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25138101

RESUMO

In this study, we evaluated the diagnostic value of the Dutch Clinical Genetic Center (CGC) referral guidelines for BRCA1/2 mutation testing in 903 early breast cancer patients, unselected for family history, diagnosed in a cancer hospital before the age of 50 years in 1974-2002; most prevalent Dutch pathogenic BRCA1/2 mutations had been analyzed on coded DNA in a research setting. Forty-nine (5.4%) of the patients were proven to be BRCA1/2 mutation carriers. We found that 78% and 69% of BRCA1 and BRCA2 mutation carriers identified met the criteria for referral to the CGC based on age, family history and synchronous multiple tumors; reflected by a combined sensitivity of 75.5% and specificity of 63.2%. More than half of the BRCA1 mutation carriers, that is, 58% had a triple-negative tumor. The highest AUC was obtained by shifting the age at diagnosis threshold criterion from 40 to 35 years and by adding a 'triple-negative breast cancer' criterion with an age threshold of 45 years; the specificity increased to 71.2%, whereas the sensitivity remained the same; that is, a referral of fewer patients will lead to the identification of at least the same number of BRCA1/2 mutation carriers. Two-thirds of the BRCA1/2 mutation carriers identified in this research setting had been referred for counseling and testing. Our results indicate that, awaiting a possibly more extended mutation screening of all breast cancer patients, the triple-negative status of a breast cancer should be added to the CGC referral criteria.


Assuntos
Neoplasias da Mama/diagnóstico , Neoplasias da Mama/genética , Genes BRCA1 , Genes BRCA2 , Testes Genéticos , Encaminhamento e Consulta , Adulto , Biomarcadores Tumorais , Neoplasias da Mama/epidemiologia , Feminino , Mutação em Linhagem Germinativa , Heterozigoto , Humanos , Pessoa de Meia-Idade , Mutação , Estadiamento de Neoplasias , Países Baixos/epidemiologia , Reprodutibilidade dos Testes , Estudos Retrospectivos , Sensibilidade e Especificidade , Adulto Jovem
2.
Am J Ment Retard ; 112(3): 207-20, 2007 May.
Artigo em Inglês | MEDLINE | ID: mdl-17542657

RESUMO

Six types of antisocial and delinquent behaviors (e.g., property destruction and authority avoidance) were assessed in 526 youths (11 to 24 years of age) with mild to borderline intellectual disabilities and 1,030 11- to 18-year-olds without intellectual disabilities. Overall, 10% to 20% of youths with intellectual disabilities exhibited some type of antisocial and delinquent behavior, which were quite persistent over a 5-year period. Youths who exhibited one type of antisocial and delinquent behavior were likely to also exhibit other types of such behaviors. Being male, younger, and having behavioral problems particularly predicted these behaviors across a 5-year period. Overall, boys but not girls with intellectual disabilities exhibited antisocial and delinquent behaviors more often than peers without intellectual disabilities. Clinical implications and implications for future research are discussed.


Assuntos
Transtorno da Personalidade Antissocial/diagnóstico , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/epidemiologia , Delinquência Juvenil/estatística & dados numéricos , Adolescente , Adulto , Fatores Etários , Transtorno da Personalidade Antissocial/epidemiologia , Transtorno da Personalidade Antissocial/psicologia , Criança , Comorbidade , Estudos Transversais , Educação de Pessoa com Deficiência Intelectual , Feminino , Humanos , Deficiência Intelectual/psicologia , Delinquência Juvenil/psicologia , Masculino , Países Baixos , Fatores Sexuais , Socialização , Estatística como Assunto
3.
J Child Psychol Psychiatry ; 48(5): 498-507, 2007 May.
Artigo em Inglês | MEDLINE | ID: mdl-17501731

RESUMO

BACKGROUND: We aimed to describe similarities and differences in the developmental course of psychopathology between children with and without intellectual disabilities (ID). METHODS: Multilevel growth curve analysis was used to analyse the developmental course of psychopathology, using the Child Behavior Checklist (CBCL), in two longitudinal multiple-birth-cohort samples of 6- to 18-year-old children with ID (N = 978) and without ID (N = 2,047) using three repeated measurements across a 6-year period. RESULTS: Children with ID showed a higher level of problem behaviours across all ages compared to children without ID. A significant difference between the samples in the developmental courses was found for Aggressive Behaviour and Attention Problems, where children with ID showed a significantly larger decrease. Gender differences in the development of psychopathology were similar in both samples, except for Social Problems where males with ID showed a larger decrease in problem behaviour across time than females with ID and males and females without ID. CONCLUSIONS: Results indicate that children with ID continue to show a greater risk for psychopathology compared to typically developing children, although this higher risk is less pronounced at age 18 than it is at age 6 for Aggressive Behaviour. Contrary to our expectations, the developmental course of psychopathology in children with ID was quite similar from age 6 to 18 compared to children without ID. The normative developmental trajectories of psychopathology in children with ID, presented here, can serve as a yardstick against which development of childhood psychopathology can be detected as deviant.


Assuntos
Transtornos do Comportamento Infantil/epidemiologia , Deficiências do Desenvolvimento/epidemiologia , Deficiência Intelectual/epidemiologia , Psicopatologia , Adolescente , Criança , Comorbidade , Feminino , Humanos , Masculino , Transtornos Mentais/epidemiologia , Países Baixos/epidemiologia
4.
J Am Acad Child Adolesc Psychiatry ; 45(10): 1232-1242, 2006 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-17003669

RESUMO

OBJECTIVE: To study the help-seeking process of parents for emotional or behavioral problems in their child with borderline to moderate intellectual disabilities. METHOD: In 2003, in a special education-based sample of 522 youths (ages 10-18 years, response = 77.9%), we studied the parents' perception of their child's problems, their subsequent felt need for professional help, actual help-seeking, and the factors possibly related to taking these steps. RESULTS: Even when parents indicated their child's emotional or behavioral functioning as "neither good nor bad," in about 70%, these problems were present according to standardized measures. Of the 213 parents (40.8%) who perceived problems, 70.6% felt a need, and 55.2% of these parents subsequently sought professional help. Parents more often sought help when their child had problems of anxiety and depression, experienced negative life events, and when parents perceived child psychopathology before the past year. Reported barriers to seeking help predominantly related to parents' evaluation of the severity of these problems and wanting to solve the problems themselves. CONCLUSIONS: Clinicians and other service providers should address parents' concerns regarding their child's emotional/behavioral functioning and treatment seeking. Also, they should provide information on treatment options and on signs and potential negative prospects of their child's problems.


Assuntos
Deficiência Intelectual/epidemiologia , Deficiência Intelectual/psicologia , Transtornos Mentais/epidemiologia , Transtornos Mentais/terapia , Pais , Aceitação pelo Paciente de Cuidados de Saúde , Adolescente , Criança , Feminino , Humanos , Masculino , Transtornos Mentais/diagnóstico , Índice de Gravidade de Doença , Inquéritos e Questionários
5.
J Child Psychol Psychiatry ; 45(2): 274-83, 2004 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-14982241

RESUMO

BACKGROUND: The selective attention of children with attention deficit/hyperactivity disorder (AD/HD) to briefly exposed delay-related cues was examined in two experiments using a dot-probe conditioning paradigm. METHOD: Colour cues were paired with negatively (i.e., imposition of delay) and positively valenced cues (i.e., escape from or avoidance of delay) during a conditioning phase. These cues were presented alongside neutral cues in a subsequent dot-probe detection phase. RESULTS: In experiment 1 teacher-identified children with AD/HD (N = 12), but not controls (N = 12), displayed an attentional bias towards both positively and negatively valenced cues. In experiment 2 children with a diagnosis of hyperkinetic disorder (N = 15), but not controls (N = 15), displayed a bias towards delay-related cues. However, this effect was largely carried by the response to positively valenced cues. CONCLUSIONS: These results confirm the dot-probe conditioning paradigm as a useful test of motivational influence on attention. They provide the first evidence of qualitative differences in the attentional style of children with AD/HD and give further support to those theories that highlight the motivational significance of delay in AD/HD.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Atenção , Condicionamento Psicológico , Sinais (Psicologia) , Gerenciamento do Tempo , Criança , Feminino , Humanos , Masculino , Motivação , Tempo de Reação
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