1型神经纤维瘤病婴儿的早期发育：病例系列
Early development of infants with neurofibromatosis type 1: a case series.
作者信息
Kolesnik Anna May, Jones Emily Jane Harrison, Garg Shruti, Green Jonathan, Charman Tony, Johnson Mark Henry
机构信息
Centre for Brain and Cognitive Development and Department of Psychology, Birkbeck, University of London, Malet Street, London, WC1E 7HX UK.
Neuroscience & Experimental Psychology, Manchester Academic Health Science Centre, University of Manchester and Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation, Manchester, UK.
出版信息
Mol Autism. 2017 Nov 23;8:62. doi: 10.1186/s13229-017-0178-0. eCollection 2017.
BACKGROUND
Prospective studies of infants at familial risk for autism spectrum disorder (ASD) have yielded insights into the earliest signs of the disorder but represent heterogeneous samples of unclear aetiology. Complementing this approach by studying cohorts of infants with monogenic syndromes associated with high rates of ASD offers the opportunity to elucidate the factors that lead to ASD.
METHODS
We present the first report from a prospective study of ten 10-month-old infants with neurofibromatosis type 1 (NF1), a monogenic disorder with high prevalence of ASD or ASD symptomatology. We compared data from infants with NF1 to a large cohort of infants at familial risk for ASD, separated by outcome at age 3 of ASD ( = 34), atypical development ( = 44), or typical development ( = 89), and low-risk controls ( = 75). Domains assessed at 10 months by parent report and examiner observation include cognitive and adaptive function, sensory processing, social engagement, and temperament.
RESULTS
Infants with NF1 showed striking impairments in motor functioning relative to low-risk infants; this pattern was seen in infants with later ASD from the familial cohort (HR-ASD). Both infants with NF1 and the HR-ASD group showed communication delays relative to low-risk infants.
CONCLUSIONS
Ten-month-old infants with NF1 show a range of developmental difficulties that were particularly striking in motor and communication domains. As with HR-ASD infants, social skills at this age were not notably impaired. This is some of the first information on early neurodevelopment in NF1. Strong inferences are limited by the sample size, but the findings suggest implications for early comparative developmental science and highlight motor functioning as an important domain to inform the development of relevant animal models. The findings have clinical implications in indicating an important focus for early surveillance and remediation in this early diagnosed genetic disorder.
背景
对自闭症谱系障碍（ASD）家族风险婴儿的前瞻性研究已经揭示了该疾病的早期迹象，但这些研究代表的样本病因不明且具有异质性。通过研究与高ASD发病率相关的单基因综合征婴儿队列来补充这种方法，为阐明导致ASD的因素提供了机会。
方法
我们报告了一项对10名10个月大的1型神经纤维瘤病（NF1）婴儿进行前瞻性研究的首份报告，NF1是一种单基因疾病，ASD或ASD症状的患病率很高。我们将NF1婴儿的数据与一大群有ASD家族风险的婴儿的数据进行了比较，这些婴儿按3岁时的结果分为ASD（n = 34）、非典型发育（n = 44）或典型发育（n = 89），以及低风险对照组（n = 75）。通过家长报告和检查者观察在10个月时评估的领域包括认知和适应功能、感觉处理、社交参与和气质。
结果
与低风险婴儿相比，NF1婴儿在运动功能方面表现出明显的损害；在家族队列中后来被诊断为ASD的婴儿（HR-ASD）中也观察到了这种模式。与低风险婴儿相比，NF1婴儿和HR-ASD组均表现出沟通延迟。
结论
10个月大的NF1婴儿表现出一系列发育困难，在运动和沟通领域尤为明显。与HR-ASD婴儿一样，这个年龄段的社交技能没有明显受损。这是关于NF1早期神经发育的一些首批信息。由于样本量的限制，有力的推断受到限制，但研究结果对早期比较发育科学具有启示意义，并突出了运动功能作为为相关动物模型开发提供信息的重要领域。这些发现具有临床意义，表明了对这种早期诊断的遗传疾病进行早期监测和干预的重要重点。
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