RESUMO
Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are highly heritable neurodevelopmental disorders that frequently co-occur. Both rare and common genetic variants are important for ASD and ADHD risk but their combined contribution to clinical heterogeneity is unclear. In a sample of 39 ASD and/or ADHD families we estimated the overall variance explained by known rare copy number variants (CNVs) and polygenic risk score (PRS) from common variants to be 10% in comorbid ASD/ADHD, 4% in ASD and 2% in ADHD. We show that burden of large, rare CNVs and PRS is significantly higher in adult ASD and/or ADHD patients with sustained need for specialist care compared to their unaffected relatives, while affected relatives fall in-between the two.
Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/genética , Transtorno Autístico/diagnóstico , Transtorno Autístico/genética , Variações do Número de Cópias de DNA/genética , Herança Multifatorial/genética , Adolescente , Adulto , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno Autístico/epidemiologia , Criança , Comorbidade , Dinamarca/epidemiologia , Feminino , Humanos , Masculino , Valor Preditivo dos Testes , Fatores de RiscoRESUMO
The number of children and adolescents with psychiatric disorders being treated with antipsychotic medication is increasing significantly; however, only a limited evidence-base is available on this topic, especially when children are concerned. This study reports and discusses the use of antipsychotic medication in children and adolescents below 19 years of age in Denmark. A national cross-sectional survey registered the use of antipsychotic drugs on a given date. A questionnaire was sent to all child and adolescent psychiatric departments and all consultants in child and adolescent psychiatry throughout the country. All children and adolescents, aged 0-18 years, registered in treatment with antipsychotic medication, were included. Sixty-seven per cent of clinics and 63% of consultants participated. The total number of subjects registered in examination or treatment in the participating units was 3854. Antipsychotic medication was used in n=244 (6.4%) of these cases. Eighty-eight patients received additional medication, of which 24% received antidepressants, 8% sedative medication and 4% psychostimulants. The age of the patients was 4-18 years, and 63% was male. The most frequent diagnoses for patients in antipsychotic treatment were: schizophrenia, schizotypal disorder, autism spectrum disorders and personality disorders. Monotherapy was used in 87% of cases. Sixty-four per cent of patients treated with antipsychotics, received a second-generation antipsychotic as the main treatment. All 244 patients received one or more additional treatment modalities other than medication. Antipsychotic medication has a definite role in the treatment of children and adolescents with psychiatric disorders. Second-generation antipsychotics used as monotherapy prevail.
