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Touch and olfaction/taste differentiate children carrying a 16p11.2 deletion from children with ASD
Molecular Autism ( IF 6.3 ) Pub Date : 2021-02-05 , DOI: 10.1186/s13229-020-00410-w
Joana Maria Almeida Osório 1 , Borja Rodríguez-Herreros 1 , David Romascano 1 , Vincent Junod 1 , Aline Habegger 1 , Aurélie Pain 1 , Sonia Richetin 1 , Paola Yu 1, 2 , Bertrand Isidor 3 , Lionel Van Maldergem 4, 5, 6 , Linda Pons 7 , Sabine Manificat 1 , Nadia Chabane 1 , Marine Jequier Gygax 1 , Anne Manuela Maillard 1
Affiliation  

Sensory processing atypicalities are frequent in Autism Spectrum Disorder (ASD) and neurodevelopmental disorders (NDD). Different domains of sensory processing appear to be differentially altered in these disorders. In this study, we explored the sensory profile of two clinical cohorts, in comparison with a sample of typically developing children. Behavioral responses to sensory stimuli were assessed using the Sensory Processing Measure (parent-report questionnaire). We included 121 ASD children, 17 carriers of the 16p11.2 deletion (Del 16p11.2) and 45 typically developing (TD) children. All participants were aged between 2 and 12 years. Additional measures included the Tactile Defensiveness and Discrimination Test-Revised, Wechsler Intelligence Scales and Autism Diagnostic Observation Schedule (ADOS-2). Statistical analyses included MANCOVA and regression analyses. ASD children score significantly higher on all SPM subscales compared to TD. Del16p11.2 also scored higher than TD on all subscales except for tactile and olfactory/taste processing, in which they score similarly to TD. When assessing sensory modulation patterns (hyper-, hypo-responsiveness and seeking), ASD did not significantly differ from del16p11.2. Both groups had significantly higher scores across all patterns than the TD group. There was no significant association between the SPM Touch subscale and the TDDT-R. Sensory processing was assessed using a parent-report questionnaire. Even though it captures observable behavior, a questionnaire does not assess sensory processing in all its complexity. The sample size of the genetic cohort and the small subset of ASD children with TDDT-R data render some of our results exploratory. Divergence between SPM Touch and TDDT-R raises important questions about the nature of the process that is assessed. Touch and olfaction/taste seem to be particularly affected in ASD children compared to del16p11.2. These results indicate that parent report measures can provide a useful perspective on behavioral expression. Sensory phenotyping, when combined with neurobiological and psychophysical methods, might have the potential to provide a better understanding of the sensory processing in ASD and in other NDD.

中文翻译:

触觉和嗅觉/味觉将携带 16p11.2 缺失的儿童与 ASD 儿童区分开来

感觉处理异常在自闭症谱系障碍 (ASD) 和神经发育障碍 (NDD) 中很常见。在这些疾病中,感觉处理的不同领域似乎发生了不同的变化。在这项研究中,我们探索了两个临床队列的感官特征,并与典型发育儿童的样本进行了比较。使用感官处理测量(父母报告问卷)评估对感官刺激的行为反应。我们纳入了 121 名 ASD 儿童、17 名 16p11.2 缺失 (Del 16p11.2) 携带者和 45 名典型发育 (TD) 儿童。所有参与者的年龄都在 2 至 12 岁之间。其他措施包括触觉防御和歧视测试修订版、韦克斯勒智力量表和自闭症诊断观察计划 (ADOS-2)。统计分析包括 MANCOVA 和回归分析。与 TD 相比,ASD 儿童在所有 SPM 分量表上的得分明显更高。Del16p11.2 在所有分量表上的得分也高于 TD,除了触觉和嗅觉/味觉处理,它们的得分与 TD 相似。在评估感觉调制模式(高反应性、低反应性和寻求)时,ASD 与 del16p11.2 没有显着差异。两组在所有模式中的得分都显着高于 TD 组。SPM Touch 分量表和 TDDT-R 之间没有显着关联。使用家长报告问卷评估感官处理。尽管它捕获了可观察到的行为,但问卷并未评估其所有复杂性的感官处理。遗传队列的样本量和具有 TDDT-R 数据的 ASD 儿童的小子集使我们的一些结果具有探索性。SPM Touch 和 TDDT-R 之间的差异引发了有关评估过程性质的重要问题。与 del16p11.2 相比,ASD 儿童的触觉和嗅觉/味觉似乎特别受到影响。这些结果表明,父母报告措施可以为行为表达提供有用的视角。感觉表型与神经生物学和心理物理学方法相结合,可能有可能更好地了解 ASD 和其他 NDD 的感觉处理。与 del16p11.2 相比,ASD 儿童的触觉和嗅觉/味觉似乎特别受到影响。这些结果表明,父母报告措施可以为行为表达提供有用的视角。感觉表型与神经生物学和心理物理学方法相结合,可能有可能更好地了解 ASD 和其他 NDD 的感觉处理。与 del16p11.2 相比,ASD 儿童的触觉和嗅觉/味觉似乎特别受到影响。这些结果表明,父母报告措施可以为行为表达提供有用的视角。感觉表型与神经生物学和心理物理学方法相结合,可能有可能更好地了解 ASD 和其他 NDD 的感觉处理。
更新日期:2021-02-05
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