Autism spectrum disorder in fragile X syndrome: a longitudinal evaluation.
Autism spectrum disorder in fragile X syndrome: a longitudinal evaluation.
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DOI：
10.1002/ajmg.a.32848
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发表时间：
2009-06
影响因子：
2
通讯作者：
Kaufmann, Walter E.
中科院分区：
文献类型：
--
作者：
Hernandez, R. Nick;Feinberg, Rachel L.;Vaurio, Rebecca;Passanante, Natalie M.;Thompson, Richard E.;Kaufmann, Walter E.
本研究将我们之前对符合《精神障碍诊断与统计手册》第4版自闭症谱系障碍（ASD）标准的脆性X综合征（FXS）男孩的自闭症行为特征进行表征，扩展为对FXS中的ASD （FXS+ASD）进行纵向评估。具体来说，我们的目的是确定FXS中ASD诊断和特征随时间的稳定性。通过回归模型，我们还评估了哪些自闭症和社会行为和技能与诊断和自闭症行为严重程度相关（即自闭症诊断访谈-修订总分）。最后，我们评估了FXS+ASD认知参数的演变。在三年一次的评估中，对56名患有FXS的男孩（基线30-88个月）进行了自闭症、社会和认知行为和技能的评估。我们发现，随着时间的推移，FXS对ASD的诊断相对稳定。进一步强调这种稳定性，我们发现了一组行为和技能，特别是那些与同伴关系和适应性社交相关的行为和技能，这些行为和技能将FXS+ASD与其他FXS队列（FXS+None）区分开来，并在所有时间点对自闭症的严重程度做出了贡献。然而，随着时间的推移，FXS+ASD组观察到的自闭症行为的总体改善加上FXS+None组同时恶化导致组间分化较小。令人惊讶的是，FXS+ASD智商得分稳定，而FXS+None非语言智商得分下降。我们的研究结果表明，ASD是FXS中一个独特的亚表型，其特征是缺乏复杂的社会互动，与一般人群中的ASD相似。
The present study extends our previous work on characterizing the autistic behavior profile of boys with fragile X syndrome (FXS) who meet Diagnostic and Statistical Manual for Mental Disorders, 4th Edition criteria for autism spectrum disorder (ASD) into a longitudinal evaluation of ASD in FXS (FXS+ASD). Specifically, we aimed to determine the stability of the diagnosis and profile of ASD in FXS over time. Through regression models, we also evaluated which autistic and social behaviors and skills were correlates of diagnosis and autistic behavior severity (i.e., Autism Diagnostic Interview-Revised total scores). Finally, we assessed the evolution of cognitive parameters in FXS+ASD. A population of 56 boys (30–88 months at baseline) with FXS was evaluated using measures of autistic, social, and cognitive behaviors and skills at three yearly evaluations. We found that the diagnosis of ASD in FXS was relatively stable over time. Further emphasizing this stability, we found a set of behaviors and skills, particularly those related to peer relationships and adaptive socialization, that differentiated FXS+ASD from the rest of the FXS cohort (FXS+None) and contributed to autistic severity at all time points. Nevertheless, the general improvement in autistic behavior observed in FXS+ASD coupled with the concurrent worsening in FXS+None resulted in less differentiation between the groups over time. Surprisingly, FXS+ASD IQ scores were stable while FXS+None non-verbal IQ scores declined. Our findings indicate that ASD is a distinctive subphenotype in FXS characterized by deficits in complex social interaction, with similarities to ASD in the general population.
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DOI：
10.1002/ajmg.1320230128
发表时间：
1986-01-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
HAGERMAN, RJ;JACKSON, AW;BRADEN, M
通讯作者：
BRADEN, M
影响因子：
2
作者：
Garcia-Nonell, Catalina;Ratera, Euienia Rigau;Harris, Susan;Hessl, David;Ono, Michele Y.;Tartaglia, Nicole;Marvin, Emily;Tassone, Flora;Hagerman, Randi J.
通讯作者：
Hagerman, Randi J.
影响因子：
8
作者：
Hagerman RJ;Berry-Kravis E;Kaufmann WE;Ono MY;Tartaglia N;Lachiewicz A;Kronk R;Delahunty C;Hessl D;Visootsak J;Picker J;Gane L;Tranfaglia M
通讯作者：
Tranfaglia M
影响因子：
5.2
作者：
Fecteau, S;Mottron, L;Burack, JA
通讯作者：
Burack, JA
DOI：
10.1002/ajmg.1320510404
发表时间：
1994-07-15
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
HAGERMAN, RJ;HULL, CE;TAYLOR, AK
通讯作者：
TAYLOR, AK