Press Katharine R, Wieczorek Laura, Hoover-Fong Julie, Bodurtha Joann, Taylor Lynn
733 North Broadway, Suite 137-Office of Student Affairs, Edward D. Miller Research Building, Baltimore, MD 21205 USA.
Bloomberg Children's Center, 12th Floor, Room 12316, 1800 Orleans Street, Baltimore, MD 21287 USA.
Child Adolesc Psychiatry Ment Health. 2016 Mar 28;10:7. doi: 10.1186/s13034-016-0095-6. eCollection 2016.
A growing multitude of known genetic diagnoses can result in presentation to child psychiatry. For numerous reasons, it is important to identify a genetic etiology in child psychiatry patients when it is present. Genetic diagnoses can guide treatment and enable access to specialized clinics and appropriate screening measures. They can also allow for genetic counseling for the patient and family. A better understanding of etiology with a named diagnosis can itself be of great value to many patients and families; prognostic information can be empowering. Since patients with genetic conditions may present to psychiatric care in diverse ways, child psychiatrists must decide who to refer for genetic evaluation. Here we create a table to provide a framework of concerning/notable history and exam features that a practicing child psychiatrist may encounter that should prompt one to consider whether a larger, unifying genetic diagnosis is at hand. We hope this framework will facilitate referral of child psychiatry patients to genetics so that more patients can benefit from an appropriate diagnosis.
越来越多已知的基因诊断结果可能导致患者就诊于儿童精神病学领域。出于多种原因，在儿童精神病学患者中识别出存在的基因病因非常重要。基因诊断可以指导治疗，并有助于患者进入专科诊所并采取适当的筛查措施。它们还能为患者及其家庭提供遗传咨询。通过明确诊断更好地了解病因本身对许多患者和家庭可能具有巨大价值；预后信息可能会增强信心。由于患有基因疾病的患者可能以多种方式接受精神科护理，儿童精神科医生必须决定将哪些患者转介进行基因评估。在此，我们创建了一个表格，以提供一个有关/值得注意的病史和检查特征的框架，执业儿童精神科医生可能会遇到这些情况，这应促使其考虑是否存在一个更广泛、统一的基因诊断。我们希望这个框架将有助于将儿童精神病学患者转介至遗传学领域，以便更多患者能够从适当的诊断中受益。
