Abstract

Background

Neurofibromatosis type 1 (NF1) is a multisystem neurocutaneous disorder with increased risk of tumor formation and higher incidence of autism spectrum disorder (ASD) than the general population. The aim of the study was to assess the presence of ASD symptoms in young children with NF1 and to examine their potential association with attention deficit hyperactivity disorder (ADHD) and speech delay.

Methods

The cohort included 30 patients with NF1 attending the multidisciplinary NF1 clinic of a tertiary pediatric medical center from September 2015 through September 2016. The parents/caregivers completed the Social Communication Questionnaire (SCQ) and the Vineland Adaptive Behavior Scales (VABS II).

Results

Sixteen patients (53%) had a previous diagnosis of ADHD. There was a positive association between the presence of ADHD and a low score on the VABS II interpersonal relationships subscale of the Socialization domain. Language delay, documented in 12 children (40%), also correlated with a low interpersonal relationships score.

Conclusions

ADHD appears to be more a marker than an actual independent risk factor of ASD in NF1. The early evaluation of children with NF1 for interpersonal communication problems and ASD, especially those with a speech delay or ADHD, will alert clinicians to initiate appropriate and timely treatment.

中文翻译：

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1型神经纤维瘤病儿童的沟通和社交障碍：ADHD和语言延迟的特征和作用

摘要

背景

1 型神经纤维瘤病 (NF1) 是一种多系统神经皮肤疾病，与普通人群相比，肿瘤形成的风险增加，自闭症谱系障碍 (ASD) 的发病率也更高。该研究的目的是评估患有 NF1 的幼儿是否存在 ASD 症状，并检查其与注意力缺陷多动障碍 (ADHD) 和言语延迟的潜在关联。

方法

该队列包括 2015 年 9 月至 2016 年 9 月在一家三级儿科医疗中心的多学科 NF1 诊所就诊的 30 名 NF1 患者。父母/照顾者完成了社会沟通问卷 (SCQ) 和 Vineland 适应性行为量表 (VABS II)。

结果

16 名患者 (53%) 曾诊断为 ADHD。ADHD 的存在与社会化领域的 VABS II 人际关系子量表的低分之间存在正相关关系。12 名儿童 (40%) 记录的语言延迟也与人际关系得分低相关。

结论

ADHD 似乎更像是一个标志，而不是 NF1 中 ASD 的实际独立风险因素。对患有 NF1 的儿童进行人际沟通问题和 ASD 的早期评估，特别是那些有言语延迟或 ADHD 的儿童，将提醒临床医生开始适当和及时的治疗。