Functional neuroimaging of high-risk 6-month-old infants predicts a diagnosis of autism at 24 months of age.

Functional neuroimaging of high-risk 6-month-old infants predicts a diagnosis of autism at 24 months of age.
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DOI:
10.1126/scitranslmed.aag2882
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发表时间:
2017-06-07
影响因子:
17.1
通讯作者:
Piven J
Piven J
中科院分区:
医学1区
文献类型:
--
作者:
Emerson RW;Adams C;Nishino T;Hazlett HC;Wolff JJ;Zwaigenbaum L;Constantino JN;Shen MD;Swanson MR;Elison JT;Kandala S;Estes AM;Botteron KN;Collins L;Dager SR;Evans AC;Gerig G;Gu H;McKinstry RC;Paterson S;Schultz RT;Styner M;IBIS Network;Schlaggar BL;Pruett JR Jr;Piven J

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自闭症谱系障碍(ASD)是一种神经发育障碍,其特征是社交缺陷和重复行为,通常在24个月大时出现。为了开发有效的早期干预措施,可以潜在地改善ASD的定义缺陷并改善长期结果,早期检测至关重要。使用前瞻性神经影像学的59个6个月大的婴儿与高家族风险的ASD,我们表明,功能连接磁共振成像正确地确定了个别儿童将接受研究临床最佳估计诊断的ASD在24个月大。在6个月大的婴儿中定义了功能性大脑连接,这些连接与24个月的社交行为,语言,运动发育和重复行为的测量分数相关,这些都是ASD诊断的共同特征。在6个月大时应用的完全交叉验证的机器学习算法的阳性预测值为100% [95%置信区间(CI),62.9至100],正确预测24个月时接受ASD诊断的11名婴儿中的9名(灵敏度,81.8%; 95% CI,47.8至96.8)。所有48名未被诊断为ASD的6个月大婴儿均被正确分类[特异性,100%(95%CI,90.8至100);阴性预测值,96.0%(95%CI,85.1至99.3)]。这些发现对早期风险评估和开发ASD早期预防干预措施的可行性具有临床意义。
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social deficits and repetitive behaviors that typically emerge by 24 months of age. To develop effective early interventions that can potentially ameliorate the defining deficits of ASD and improve long-term outcomes, early detection is essential. Using prospective neuroimaging of 59 6-month-old infants with a high familial risk for ASD, we show that functional connectivity magnetic resonance imaging correctly identified which individual children would receive a research clinical best-estimate diagnosis of ASD at 24 months of age. Functional brain connections were defined in 6-month-old infants that correlated with 24-month scores on measures of social behavior, language, motor development, and repetitive behavior, which are all features common to the diagnosis of ASD. A fully cross-validated machine learning algorithm applied at age 6 months had a positive predictive value of 100% [95% confidence interval (CI), 62.9 to 100], correctly predicting 9 of 11 infants who received a diagnosis of ASD at 24 months (sensitivity, 81.8%; 95% CI, 47.8 to 96.8). All 48 6-month-old infants who were not diagnosed with ASD were correctly classified [specificity, 100% (95% CI, 90.8 to 100); negative predictive value, 96.0% (95% CI, 85.1 to 99.3)]. These findings have clinical implications for early risk assessment and the feasibility of developing early preventative interventions for ASD.
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