The fragile X syndrome-autism comorbidity: what do we really know?
The fragile X syndrome-autism comorbidity: what do we really know?
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脆弱的X综合征 - 自制的合并症：我们真正知道什么？
DOI：
10.3389/fgene.2014.00355
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发表时间：
2014
影响因子：
3.7
通讯作者：
Thurman AJ
中科院分区：
文献类型：
--
作者：
Abbeduto L;McDuffie A;Thurman AJ
自闭症谱系障碍(ASD)是脆性X综合征(FXS)患者的常见并存疾病。人们一直认为ASD症状反映了FXS和非综合征性ASD相同的潜在心理和神经生物学损害，这导致了对FXS核心症状有效的靶向药物治疗可能对非综合征性ASD也有利的说法。相反，我们从各种来源提供的证据表明，患有FXS和ASD的患者和那些没有综合征的ASD患者在ASD症状、行为和精神相关性以及发展轨迹方面存在重要差异。我们还提出的证据表明，社会障碍可能无法区分患有和不患有ASD的FXS患者。最后，我们提供的数据表明，行为损害的神经生物学基础，包括那些反映核心ASD症状的基础，在FXS和非综合征ASD中是不同的。总之，这些数据表明，FXS和非综合征性ASD之间存在临床上重要的差异，这些差异被ASD的分类诊断所掩盖。我们主张在未来的研究中使用基于症状的方法，包括旨在评估治疗效果的研究。
Autism spectrum disorder (ASD) is a common comorbid condition in people with fragile X syndrome (FXS). It has been assumed that ASD symptoms reflect the same underlying psychological and neurobiological impairments in both FXS and non-syndromic ASD, which has led to the claim that targeted pharmaceutical treatments that are efficacious for core symptoms of FXS are likely to be beneficial for non-syndromic ASD as well. In contrast, we present evidence from a variety of sources suggesting that there are important differences in ASD symptoms, behavioral and psychiatric correlates, and developmental trajectories between individuals with comorbid FXS and ASD and those with non-syndromic ASD. We also present evidence suggesting that social impairments may not distinguish individuals with FXS with and without ASD. Finally, we present data that demonstrate that the neurobiological substrates of the behavioral impairments, including those reflecting core ASD symptoms, are different in FXS and non-syndromic ASD. Together, these data suggest that there are clinically important differences between FXS and non-syndromic ASD that are masked by reliance on the categorical diagnosis of ASD. We argue for use of a symptom-based approach in future research, including studies designed to evaluate treatment efficacy.
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自闭症诊断观察表： 提高诊断有效性的修订算法
影响因子：
3.9
作者：
Gotham, Katherine;Risi, Susan;Lord, Catherine
通讯作者：
Lord, Catherine
DOI：
10.1007/978-3-642-21649-7_17
发表时间：
2012-01-01
期刊：
MODELING FRAGILE X SYNDROME
影响因子：
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作者：
Hagerman, Randi;Lauterborn, Julie;Berry-Kravis, Elizabeth
通讯作者：
Berry-Kravis, Elizabeth
影响因子：
3.9
作者：
Gotham, Katherine;Pickles, Andrew;Lord, Catherine
通讯作者：
Lord, Catherine
影响因子：
6.9
作者：
Charman, T.;Pickles, A.;Baird, G.
通讯作者：
Baird, G.
影响因子：
8.2
作者：
D'Antoni S;Spatuzza M;Bonaccorso CM;Musumeci SA;Ciranna L;Nicoletti F;Huber KM;Catania MV
通讯作者：
Catania MV