RESUMO
We describe two patients, who were assessed at a child psychiatry clinic, with a known genetic disorder in the ARHGEF9 gene on the long arm of the X chromosome. The boys presented with developmental delay, hyperactivity, autism spectrum disorder and epilepsy. This prompted us to conduct a literature search on previously identified patients with the same mutation and its impact on psychiatric symptoms in children. Recent evolutions in genetic technologies have led to the possibility of identifying and investigating more children with developmental disorders with or without psychiatric disorders. Child psychiatrists are confronted with the question what role genetics play in the child's clinical presentation. A basic knowledge of genetic principles is now required.
Assuntos
Transtorno do Espectro Autista/genética , Psiquiatria Infantil , Deficiências do Desenvolvimento/genética , Epilepsia/genética , Criança , Humanos , Masculino , Fatores de Troca de Nucleotídeo Guanina RhoRESUMO
A 16-year-old adolescent with progressive hearing loss was diagnosed with a conversion disorder after extensive somatic investigations. Psychotherapy led to a successful rehabilitation and improved quality of life. In the discussion we address the recommendations relating to both diagnostics and approach in good clinical practice. The importance of multidisciplinary collaboration is supported by research, but remains a challenge in daily practice.
Assuntos
Surdez/diagnóstico , Surdez/reabilitação , Psicoterapia/métodos , Qualidade de Vida , Adolescente , Feminino , HumanosRESUMO
Hashimoto encephalopathy (he) is a rare disorder with a great diversity in clinical presentation of neurological and/or psychiatric symptoms. We describe a case of Hashimoto thyroiditis with hypothyroidism and Hashimoto encephalopathy in a fifteen-year-old boy who was referred to a child and adolescent psychiatrist due to a suspicion of a psychotic episode. Patient recovered after treatment with levothyroxine and corticosteroids.