Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care.
Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care.
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DOI：
10.1038/s41436-020-01053-1
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发表时间：
2021-05
期刊：
影响因子：
--
通讯作者：
Mulle JG
中科院分区：
文献类型：
--
作者：
Sanchez Russo R;Gambello MJ;Murphy MM;Aberizk K;Black E;Burrell TL;Carlock G;Cubells JF;Epstein MT;Espana R;Goines K;Guest RM;Klaiman C;Koh S;Leslie EJ;Li L;Novacek DM;Saulnier CA;Sefik E;Shultz S;Walker E;White SP;Emory 3q29 Project;Mulle JG
通过对受影响个体的系统评估，了解3q29缺失对医学、神经发育、精神病学、脑结构和神经学后遗症的影响。利用这些数据为有效的临床护理制定循证建议。使用定义的表型方案和标准化数据收集工具对32名3q29缺失个体进行评估。医学表现多种多样，几乎在每个器官系统中都有报道。最严重的表现是先天性心脏缺陷（25%），最常见的是胃肠道症状（81%）。体格检查显示肌肉骨骼病变的比例很高（81%）。神经发育表型表现出显著的负担，包括智力残疾（34%）、自闭症谱系障碍（38%）、执行功能缺陷（46%）和书写运动无力（78%）。精神疾病表现为精神病前驱症状（15%），精神病（20%），焦虑症（40%）和注意缺陷多动障碍（ADHD）（63%）。神经影像学显示后窝结构异常，但在神经学检查中，研究对象仅显示轻度或中度运动易损。通过对3q29缺失研究对象的直接评估，我们记录了该综合征的共同特征，包括神经发育和神经精神表型的高负担。提供基于证据的评估、转诊和管理建议，以帮助指导临床医生治疗3q29缺失患者。
To understand the consequences of the 3q29 deletion on medical, neurodevelopmental, psychiatric, brain structural, and neurological sequalae by systematic evaluation of affected individuals. To develop evidence-based recommendations using these data for effective clinical care. Thirty-two individuals with the 3q29 deletion were evaluated using a defined phenotyping protocol and standardized data collection instruments. Medical manifestations were varied and reported across nearly every organ system. The most severe manifestations were congenital heart defects (25%) and the most common were gastrointestinal symptoms (81%). Physical examination revealed a high proportion of musculoskeletal findings (81%). Neurodevelopmental phenotypes represent a significant burden and include intellectual disability (34%), autism spectrum disorder (38%), executive function deficits (46%), and graphomotor weakness (78%). Psychiatric illness manifests across the lifespan with psychosis prodrome (15%), psychosis (20%), anxiety disorders (40%), and attention deficit–hyperactivity disorder (ADHD) (63%). Neuroimaging revealed structural anomalies of the posterior fossa, but on neurological exam study subjects displayed only mild or moderate motor vulnerabilities. By direct evaluation of 3q29 deletion study subjects, we document common features of the syndrome, including a high burden of neurodevelopmental and neuropsychiatric phenotypes. Evidence-based recommendations for evaluation, referral, and management are provided to help guide clinicians in the care of 3q29 deletion patients.
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