UCSF Benioff Children's Hospital Oakland, Oakland, CA, 94609, USA.
Division of Neuroimmunology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, CA, 90027, USA.
J Neurodev Disord. 2023 Mar 2;15(1):9. doi: 10.1186/s11689-023-09478-w.
Down syndrome (DS) is one of the most common genetic causes of intellectual disability, and it is associated with an increased incidence of numerous co-occurring conditions. Autism spectrum disorder (ASD) is common in persons with DS, with rates reported as high as 39%. However, little is known regarding co-occurring conditions in children with both DS and ASD.
A single-center retrospective review of prospective longitudinally collected clinical data was performed. Any patient with a confirmed diagnosis of DS evaluated at a large, specialized Down Syndrome Program in a tertiary pediatric medical center between March 2018 and March 2022 was included. A standardized survey which included demographic and clinical questions was administered during each clinical evaluation.
In total, 562 individuals with DS were included. The median age was 10 years (IQR: 6.18-13.92). Of this group, 72 (13%) had a co-occurring diagnosis of ASD (DS+ASD). Individuals with DS+ASD were more likely to be male (OR 2.23, CI 1.29-3.84) and had higher odds of a current or prior diagnosis of constipation (OR 2.19, CI 1.31-3.65), gastroesophageal reflux (OR 1.91, CI 1.14-3.21), behavioral feeding difficulties (OR 2.71, CI 1.02-7.19), infantile spasms (OR 6.03, CI 1.79-20.34) and scoliosis (OR 2.73, CI 1.16-6.40). There were lower odds of congenital heart disease in the DS+ASD group (OR 0.56, CI 0.34-0.93). There was no observed difference in prematurity or Neonatal Intensive Care Unit complications between groups. Individuals with DS+ASD had similar odds of having a history of congenital heart defect requiring surgery to those with DS only. Furthermore, there was no difference in rates of autoimmune thyroiditis or celiac disease. There was also no difference in rates of diagnosed co-occurring neurodevelopmental or mental health conditions in this cohort, including anxiety disorders and attention-deficit/hyperactivity disorder.
This study identifies a variety of medical conditions which are more frequent in children with DS+ASD than DS alone, providing important information for the clinical management of these patients. Future research should investigate the role of some of these medical conditions in the development of ASD phenotypes, and whether there may be distinct genetic and metabolic contributions towards these conditions.
唐氏综合征（DS）是智力障碍最常见的遗传原因之一，它与许多同时发生的疾病的发病率增加有关。自闭症谱系障碍（ASD）在 DS 患者中很常见，报告的发病率高达 39%。然而，对于同时患有 DS 和 ASD 的儿童的同时发生的疾病知之甚少。
对在一家三级儿科医疗中心的大型专门唐氏综合征项目中进行的前瞻性纵向收集的临床数据进行了单中心回顾性研究。在 2018 年 3 月至 2022 年 3 月期间，对每一位经确诊患有 DS 的患者进行评估。在每次临床评估期间，都进行了一项包括人口统计学和临床问题的标准化调查。
共纳入 562 名 DS 患者。中位年龄为 10 岁（IQR：6.18-13.92）。在这组患者中，有 72 名（13%）同时诊断出 ASD（DS+ASD）。DS+ASD 患者更有可能为男性（OR 2.23，CI 1.29-3.84），且更有可能出现当前或既往诊断的便秘（OR 2.19，CI 1.31-3.65）、胃食管反流（OR 1.91，CI 1.14-3.21）、行为性喂养困难（OR 2.71，CI 1.02-7.19）、婴儿痉挛（OR 6.03，CI 1.79-20.34）和脊柱侧凸（OR 2.73，CI 1.16-6.40）。DS+ASD 组先天性心脏病的发病几率较低（OR 0.56，CI 0.34-0.93）。两组间早产儿或新生儿重症监护病房并发症无明显差异。DS+ASD 患者与单纯 DS 患者的先天性心脏病需要手术治疗的比例相似。此外，自身免疫性甲状腺炎或乳糜泻的发病率也没有差异。在本队列中，神经发育或精神健康合并症的诊断率也没有差异，包括焦虑症和注意缺陷/多动障碍。
本研究确定了一些在 DS+ASD 患儿中比单纯 DS 患儿更常见的医疗状况，为这些患者的临床管理提供了重要信息。未来的研究应调查其中一些医疗状况在 ASD 表型发展中的作用，以及这些状况是否可能存在独特的遗传和代谢贡献。
