Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 6 de 6
Filtrar
1.
FASEB J ; 34(6): 8114-8124, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32323402

RESUMO

Recent studies suggest that both high and low levels of vitamin B12 (vitB12) may have negative health impacts. We measured VitB12 in patients with the Neurodevelopmental disorders (ND) (n = 222), comprised of Autism Spectrum Disorders, specific Developmental disorders, and Intellectual Disability (aged 2-53 years), schizophrenia (n = 401), and healthy controls (HC) (n = 483). Age-and gender-adjusted vitB12 z-scores were calculated by comparisons with a reference population (n = 76 148). We found higher vitB12 in ND (median 420 pmol/L, mean z-score: 0.30) than in HC (316 pmol/L, z-score: 0.06, P < .01) and schizophrenia (306 pmol/L, z-score: -0.02, P < .001), which was significant after adjusting for age, gender, vitB12 supplement, folate, hemoglobin, leukocytes, liver, and kidney function (P < .02). In ND, 20% (n = 44) had vitB12 above 650 pmol/L, and 1% (n = 3) had below 150 pmol/L (common reference limits). In 6.3% (n = 14) of ND, vitB12 was above 2SD of mean in the age-and gender-adjusted reference population, which was more frequent than in HC (n = 8, 1.6%), OR: 4.0, P = .001. Low vitB12 was equally frequent as in HC, and vitB12 z-scores were equal across the age groups. To conclude, vitB12 was higher in ND than in HC and schizophrenia, suggesting a specific feature of ND, which warrants further studies to investigate the underlying mechanisms.


Assuntos
Transtornos do Neurodesenvolvimento/metabolismo , Esquizofrenia/metabolismo , Vitamina B 12/metabolismo , Adolescente , Adulto , Estudos de Casos e Controles , Criança , Pré-Escolar , Suplementos Nutricionais , Feminino , Ácido Fólico/metabolismo , Hemoglobinas/metabolismo , Humanos , Leucócitos/metabolismo , Masculino , Pessoa de Meia-Idade , Deficiência de Vitamina B 12/metabolismo , Adulto Jovem
2.
Int J Mol Sci ; 18(5)2017 May 18.
Artigo em Inglês | MEDLINE | ID: mdl-28524073

RESUMO

Clinical genetic testing (CGT) of children with autism spectrum disorder (ASD) may have positive and negative effects. Knowledge about parents' attitudes is needed to ensure good involvement of caregivers, which is crucial for accurate diagnosis and effective clinical management. This study aimed to assess parents' attitudes toward CGT for ASD. Parent members of the Norwegian Autism Society were given a previously untested questionnaire and 1455 answered. Linear regression analyses were conducted to evaluate contribution of parent and child characteristics to attitude statements. Provided it could contribute to a casual explanation of their child's ASD, 76% would undergo CGT. If it would improve the possibilities for early interventions, 74% were positive to CGT. Between 49-67% agreed that CGT could have a negative impact on health insurance, increase their concern for the child's future and cause family conflicts. Parents against CGT (9%) were less optimistic regarding positive effects, but not more concerned with negative impacts. The severity of the children's ASD diagnosis had a weak positive association with parent's positive attitudes to CGT (p-values range from <0.001 to 0.975). Parents prefer that CGT is offered to those having a child with ASD (65%), when the child's development deviates from normal (48%), or before pregnancy (36%). A majority of the parents of children with ASD are positive to CGT due to possibilities for an etiological explanation.


Assuntos
Atitude , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/genética , Testes Genéticos , Pais/psicologia , Transtorno Autístico/diagnóstico , Transtorno Autístico/genética , Feminino , Humanos , Modelos Lineares , Masculino , Noruega , Inquéritos e Questionários
3.
J Autism Dev Disord ; 53(10): 3847-3859, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35838825

RESUMO

Girls and boys might differ in autistic symptoms and associated cognitive difficulties such as executive function (EF). We investigated sex differences in the relationship between parent rated EF and autistic symptoms in 116 children and adolescents (25 girls) aged 5-19 years with an intelligence quotient above 70 and an autism spectrum disorder (ASD) diagnosis. They were rated with the behavior rating inventory of executive function (BRIEF) and the autism diagnostic interview revised (ADI-R). We found a positive association between EF and the ADI-R domains of reciprocal social interaction (p < 0.001) and communication (p = 0.001) in girls, while these relationships were small and non-significant in boys. Our results provide a greater understanding of the sex-specific characteristics of children and adolescents with ASD.


Assuntos
Transtorno do Espectro Autista , Humanos , Criança , Masculino , Feminino , Adolescente , Transtorno do Espectro Autista/psicologia , Função Executiva , Comunicação , Testes de Inteligência , Pais
4.
Eur J Hum Genet ; 30(10): 1138-1146, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-34776508

RESUMO

Clinical relevance of genetic testing is increasing in autism spectrum disorder (ASD). Information about genetic risk may contribute to improved diagnostics, treatment and family planning, but may also be perceived as a burden. Knowledge about the families' preferences with regard to genetic risk information is important for both health care professionals and policy makers. We investigated attitudes towards sharing information about genetic risk of ASD and knowledge about future health among parent members of the Norwegian Autism Association (N = 1455) using a questionnaire, and the relationships with parent and child characteristics, such as age, gender and ASD severity. Most preferred autonomy in deciding whom to inform about genetic risk of ASD (74.4%) and a minority supported extensive intra-familial disclosure of the genetic risk (41.1%). The majority agreed that it is an obligation to know as much as possible relevant for future health (58.0%) and only 51.7% agreed to a principle of a 'right not to know'. In regression models, the attitudes were associated with opinions about benefits and harms of genetic testing (e.g., treatment, family planning, understanding of ASD pathology, insurance discrimination and family conflict). In sum, the findings show that most parents want to know as much as possible relevant for their children's future health and keep their autonomy and intra-familial confidentiality about genetic risk information. Nearly half of the parents were not concerned with a "right not to know". These attitudes can inform development of guidelines and bioethics in the age of genomic precision medicine.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Atitude , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/genética , Criança , Humanos , Pais , Inquéritos e Questionários
6.
Psychiatr Genet ; 26(2): 74-80, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26867185

RESUMO

OBJECTIVE: Genetic research in autism spectrum disorder (ASD) is mainly performed in minors who are legally unable to provide consent. Thus, knowledge of the attitudes, fears, and expectations toward genetic research of the parents is important. Knowledge of the attitudes toward genetic research will improve cooperation between researchers and participants, and help establish confidence in ASD genetic research. The present study aimed to assess these attitudes. MATERIALS AND METHODS: Questionnaire-based assessments of attitudes toward genetic research and toward procedures in genetic research of n=1455 parents of individuals with ASD were performed. RESULTS: The main motivation for participation in genetic research is to gain more knowledge of the causes and disease mechanisms of ASD (83.6%), and to contribute toward development of improved treatment in the future (63.7%). The parents also had a positive attitude towards storing genetic information (54.3%) and they requested confidentiality of data (82.9%) and expressed a need to be informed about the purpose (89%) and progress of the research (83.7%). We found a slightly more positive attitude to participation in genetic research among older parents (P=0.015), among fathers compared with mothers (P=0.01), among parents of girls compared with boys (P=0.03), and infantile autism compared with Asperger syndrome (P=0.002). However, linear regression analysis showed that parent and child characteristics seem to have too small an influence on attitudes toward genetic research to be of any relevance (R(2)=0.002-0.02). CONCLUSION: Parents of children with ASD have, in general, a very positive attitude toward genetic research. Data confidentiality is important, and they express a need for information on the purpose and progress of the research.


Assuntos
Transtorno do Espectro Autista/genética , Pesquisa em Genética/ética , Pais/psicologia , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Lactente , Recém-Nascido , Modelos Lineares , Masculino , Pessoa de Meia-Idade , Noruega , Sociedades Médicas , Inquéritos e Questionários , Adulto Jovem
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA