PDF(Pubmed)
Abstract：
BACKGROUND: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
摘要：
背景：在接受先天性差异测试的幼儿中发现的相当大比例的致病性遗传变异与神经发育性精神障碍（NPD）有关。在这个不断壮大的群体中,基因诊断通常先于可诊断的发育问题的出现。这里,我们描述了DAGSY（遗传易感性青年发展评估），一个新的跨学科的“基因诊断第一”整合精神病的诊所，心理和遗传专业知识，并报告我们的首次观察和来自家庭和转诊临床医生的反馈。
方法：我们检索了有关转诊来源和适应症的数据，2018年至2022年在DAGSY就诊的儿童的遗传和NPD诊断和建议。通过一项调查,我们获得了20个家庭和11名转诊临床医生的反馈。
结果：159名儿童（平均年龄10.2岁，57.2%的男性)完成了跨学科(精神病学，心理学,遗传咨询）这一时期的DAGSY评估。其中,69.8%有致病性微缺失或微重复，21.5%的序列水平变异，4.4%的染色体异常，4.4%是未知意义的变异，具有新的致病性证据。四分之一的孩子之前没有NPD诊断，转诊DAGSY的动机仅在于他们的遗传脆弱性。评估后,76.7％的人至少接受了一次新的NPD诊断，最常见的智力残疾(24.5%)，焦虑（20.7%），自闭症谱系障碍（18.9%）和特定学习障碍（16.4%）。回应我们调查的家庭和临床医生都表示满意，但也强调了一些潜在的改进领域。
结论：DAGSY解决了被鉴定为具有增加NPD脆弱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重要平台。DAGSY可以作为跨学科诊所整合儿童精神病学的典范，心理学和遗传学，满足这一新兴人群的临床和研究需求。
方法：我们检索了有关转诊来源和适应症的数据，2018年至2022年在DAGSY就诊的儿童的遗传和NPD诊断和建议。通过一项调查,我们获得了20个家庭和11名转诊临床医生的反馈。
结果：159名儿童（平均年龄10.2岁，57.2%的男性)完成了跨学科(精神病学，心理学,遗传咨询）这一时期的DAGSY评估。其中,69.8%有致病性微缺失或微重复，21.5%的序列水平变异，4.4%的染色体异常，4.4%是未知意义的变异，具有新的致病性证据。四分之一的孩子之前没有NPD诊断，转诊DAGSY的动机仅在于他们的遗传脆弱性。评估后,76.7％的人至少接受了一次新的NPD诊断，最常见的智力残疾(24.5%)，焦虑（20.7%），自闭症谱系障碍（18.9%）和特定学习障碍（16.4%）。回应我们调查的家庭和临床医生都表示满意，但也强调了一些潜在的改进领域。
结论：DAGSY解决了被鉴定为具有增加NPD脆弱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重要平台。DAGSY可以作为跨学科诊所整合儿童精神病学的典范，心理学和遗传学，满足这一新兴人群的临床和研究需求。
