患有神经纤维瘤病 1 的婴儿和学龄前儿童的发育轨迹。

IF 6.3 1区 医学 Q1 GENETICS & HEREDITY
Hannah Slevin, Fiona Kehinde, Jannath Begum-Ali, Ceri Ellis, Emma Burkitt-Wright, Jonathan Green, Mark H Johnson, Greg Pasco, Tony Charman, Emily J H Jones, Shruti Garg
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引用次数: 0

摘要

背景:患有神经纤维瘤病 1(NF1)的儿童与同龄儿童相比,在认知、行为和社交方面存在差异。然而,这些差异开始出现的年龄和顺序尚不完全清楚。这项前瞻性队列研究对患有 NF1 的婴儿和学龄前儿童的认知、行为、多动症特质和自闭症症状的发展进行了研究,并与无神经发育病家族史的典型发育(TD)儿童进行了比较:方法:收集5、10、14、24和36个月大时的标准化测试数据(NF1 n = 35,TD n = 29)。采用线性混合模型分析了5至36个月期间认知(穆伦早期学习量表,MSEL)和适应行为(文兰省适应行为量表,VABS)的发展轨迹。在 24 个月和 36 个月时对多动症(儿童行为检查表)和自闭症特征(ADOS-2、BOSA-MV 和 ADI-R)进行了评估:NF1 组和 TD 组在认知技能(MSEL 的所有领域)和行为技能(VABS 的四个领域)方面的发展轨迹存在显著差异。事后测试表明,在24个月时,NF1患者在MSEL和VABS所有领域的得分明显低于TD患者。NF1 组在 24 个月时表现出更高的自闭症和多动症平均特征,14% 的 NF1 组在 36 个月时符合自闭症的研究诊断分类:该研究的样本量相对较小,原因是留存率和滚动招募情况不一。由于 COVID-19 大流行带来的限制,我们对部分参与者使用了 "自闭症症状简明观察(BOSA-MV)"。在 36 个月时,41% 的 NF1 患者使用了 BOSA-MV,而在 24 个月时,这一比例为 11%。这可能是36个月时符合自闭症标准的NF1儿童比例下降的原因:结论:与TD儿童相比,NF1儿童在24个月大时表现出较低的认知技能和适应行为,以及较高的自闭症和多动症特征。这对发育监测和早期干预的转诊具有重要意义:不适用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Developmental trajectories in infants and pre-school children with Neurofibromatosis 1.

Background: Children with Neurofibromatosis 1 (NF1) show cognitive, behavioural and social differences compared to their peers. However, the age and sequence at which these differences begin to emerge is not fully understood. This prospective cohort study examines the cognitive, behavioural, ADHD trait and autism symptom development in infant and pre-school children with NF1 compared with typically developing (TD) children without a family history of neurodevelopmental conditions.

Methods: Data from standardised tests was gathered at 5, 10, 14, 24 and 36 months of age (NF1 n = 35, TD n = 29). Developmental trajectories of cognitive (Mullen Scales of Early Learning, MSEL) and adaptive behavioural (Vineland Adaptive Behavior Scales, VABS) development from 5 to 36 months were analysed using linear mixed modelling. Measures of ADHD (Child Behavior Checklist) and autism traits (ADOS-2, BOSA-MV and ADI-R) were assessed at 24 and 36 months.

Results: The developmental trajectory of cognitive skills (all domains of the MSEL) and behavioural skills (four domains of the VABS) differed significantly between NF1 and TD groups. Post-hoc tests demonstrated that the NF1 participants scored significantly lower than TD participants at 24 months on all MSEL and VABS domains. The NF1 cohort demonstrated higher mean autism and ADHD traits at 24 months and 14% of the NF1 cohort met a research diagnostic classification for autism at 36 months.

Limitations: The study has a relatively small sample size due to variable retention and rolling recruitment. Due to limitations imposed by the COVID-19 pandemic, we utilised the Brief Observation of Symptoms of Autism for Minimally Verbal children (BOSA-MV) for some participants, which was administered online and may not gather as accurate a picture of traits as ADOS-2. The BOSA-MV was utilised for 41% of participants with NF1 at 36 months compared to 11% at 24 months. This may explain the reduction in the percentage of children with NF1 that met autism criteria at 36 months.

Conclusions: By 24 months of age, the NF1 cohort show lower cognitive skills and adaptive behaviour and higher levels of autism and ADHD traits as compared to TD children. This has implications for developmental monitoring and referral for early interventions.

Trial registration: Not applicable.

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来源期刊
Molecular Autism
Molecular Autism GENETICS & HEREDITY-NEUROSCIENCES
CiteScore
12.10
自引率
1.60%
发文量
44
审稿时长
17 weeks
期刊介绍: Molecular Autism is a peer-reviewed, open access journal that publishes high-quality basic, translational and clinical research that has relevance to the etiology, pathobiology, or treatment of autism and related neurodevelopmental conditions. Research that includes integration across levels is encouraged. Molecular Autism publishes empirical studies, reviews, and brief communications.
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