TRANSLATION, CULTURAL ADAPTATION, AND EVIDENCE OF INSTRUMENT VALIDITY FOR A MORPHOLOGICAL EXAMINATION PERFORMED IN CHILDREN WITH AUTISM SPECTRUM DISORDER

ABSTRACT Objective: For every 100 random children diagnosed with autism, at least 20 have morphological abnormalities, often associated with syndromes. Brazil does not have a standardized and validated instrument for morphological physical examination. This study aimed to translate into Brazilian Portuguese and culturally adapt the clinical signs described in the Autism Dysmorphology Measure, as well as validate the instrument in a sample of children with autism. Methods: The original instrument was translated, culturally adapted, and published in full, following traditional procedures for translation, back-translation, and terminology adaptation according to the Nomina Anatomica. The sample included 62 children from a published multicenter study, with intelligence quotient between 50–69, of both genders, with chronological age between 3–6 years. Two clinical geneticists performed the morphological physical examination, which consisted of investigating 82 characteristics assessing 12 body areas. We used Cohen’s Kappa coefficient to evaluate the agreement between the two observers. Results: The final version of the instrument – translated into Brazilian Portuguese and culturally adapted – showed high agreement between the two observers. Conclusions: The translated instrument meets all international criteria, and minor anomalies and their clinical descriptions were standardized and are recognizable for physicians not specialized in genetics.

摘要 目的：每100名确诊为自闭症的儿童中，至少有20名存在形态学异常，且此类异常常与综合征相关。巴西目前尚无经过标准化验证的形态学体格检查工具。本研究旨在将《自闭症形态学评估量表》（Autism Dysmorphology Measure）翻译成巴西葡萄牙语并进行文化适配，同时在自闭症儿童样本中对该工具开展效度验证。方法：本研究遵循翻译、回译及依据《解剖学命名法》（Nomina Anatomica）进行术语适配的传统流程，对原始量表完成翻译、文化适配并完整发表。研究样本取自已发表的多中心研究，共纳入62名儿童，其智商介于50~69之间，性别分布均衡，实足年龄为3~6岁。由两名临床遗传学家实施形态学体格检查，该检查涵盖用于评估12个体域的82项特征。采用科恩κ系数（Cohen’s Kappa coefficient）评估两名观察者间的一致性。结果：经巴西葡萄牙语翻译及文化适配后的最终量表版本，两名观察者间展现出较高的一致性。结论：该翻译适配后的量表符合所有国际标准，其涵盖的轻微畸形及其临床描述已实现标准化，可供非遗传学专业的临床医师识别与使用。