Department of Psychiatry, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada.
Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
J Neurodev Disord. 2024 Jul 5;16(1):37. doi: 10.1186/s11689-024-09552-x.
A sizeable proportion of pathogenic genetic variants identified in young children tested for congenital differences are associated with neurodevelopmental psychiatric disorders (NPD). In this growing group, a genetic diagnosis often precedes the emergence of diagnosable developmental concerns. Here, we describe DAGSY (Developmental Assessment of Genetically Susceptible Youth), a novel interdisciplinary 'genetic-diagnosis-first' clinic integrating psychiatric, psychological and genetic expertise, and report our first observations and feedback from families and referring clinicians.
We retrieved data on referral sources and indications, genetic and NPD diagnoses and recommendations for children seen at DAGSY between 2018 and 2022. Through a survey, we obtained feedback from twenty families and eleven referring clinicians.
159 children (mean age 10.2 years, 57.2% males) completed an interdisciplinary (psychiatry, psychology, genetic counselling) DAGSY assessment during this period. Of these, 69.8% had a pathogenic microdeletion or microduplication, 21.5% a sequence-level variant, 4.4% a chromosomal disorder, and 4.4% a variant of unknown significance with emerging evidence of pathogenicity. One in four children did not have a prior NPD diagnosis, and referral to DAGSY was motivated by their genetic vulnerability alone. Following assessment, 76.7% received at least one new NPD diagnosis, most frequently intellectual disability (24.5%), anxiety (20.7%), autism spectrum (18.9%) and specific learning (16.4%) disorder. Both families and clinicians responding to our survey expressed satisfaction, but also highlighted some areas for potential improvement.
DAGSY addresses an unmet clinical need for children identified with genetic variants that confer increased vulnerability for NPD and provides a crucial platform for research in this area. DAGSY can serve as a model for interdisciplinary clinics integrating child psychiatry, psychology and genetics, addressing both clinical and research needs for this emerging population.
在接受先天性差异检测的幼儿中，相当一部分致病遗传变异与神经发育精神障碍（NPD）有关。在这个不断增长的群体中，遗传诊断通常先于可诊断的发育问题出现。在这里，我们描述了 DAGSY（易患遗传的青年发展评估），这是一种新的跨学科“遗传诊断优先”诊所，整合了精神病学、心理学和遗传学专业知识，并报告了我们从家庭和转诊临床医生那里获得的第一观察结果和反馈。
我们检索了 2018 年至 2022 年期间在 DAGSY 就诊的儿童的转诊来源和指征、遗传和 NPD 诊断以及推荐意见的数据。通过调查，我们从 20 个家庭和 11 名转诊临床医生那里获得了反馈。
在此期间，共有 159 名儿童（平均年龄 10.2 岁，57.2%为男性）完成了跨学科（精神病学、心理学、遗传咨询）的 DAGSY 评估。其中，69.8%有致病性微缺失或微重复，21.5%有序列水平变异，4.4%有染色体疾病，4.4%有意义不明的变异，并有致病性的新证据。四分之一的儿童没有先前的 NPD 诊断，转诊到 DAGSY 仅仅是因为他们的遗传脆弱性。评估后，76.7%的儿童至少被诊断出一种新的 NPD，最常见的是智力障碍（24.5%）、焦虑（20.7%）、自闭症谱系（18.9%）和特定学习（16.4%）障碍。对我们的调查做出回应的家庭和临床医生都表示满意，但也强调了一些可能需要改进的领域。
DAGSY 满足了对具有增加 NPD 易感性的遗传变异的儿童的未满足的临床需求，并为该领域的研究提供了一个重要平台。DAGSY 可以作为一个跨学科的诊所模型，整合儿童精神病学、心理学和遗传学，满足这个新兴群体的临床和研究需求。
