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

Thais Arbocese Zanolla,Ana Beatriz Alvarez Perez,Decio Brunoni,Eduardo Perrone,Helena Paula Brentani,Daniela Bordini,Rodrigo Ambrosio Fock

doi:10.1590/1984-0462/2020/38/2018318

Abstract

ABSTRACTObjective: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.

Highlights

Autism Spectrum Disorder (ASD) is characterized by persistent deficits in communication and social interaction, as well as restricted and repetitive patterns of behavior, interests, or activities
The role of clinical morphology in defining the hundreds of syndromes that cause intellectual disabilities suggests that detailing the morphological examination could be useful in autism.[4,5]
The Brazilian literature has no studies to guide the investigation of morphological characteristics in individuals with autism or that have translated and culturally adapted published methods

Summary

Introduction

Autism Spectrum Disorder (ASD) is characterized by persistent deficits in communication and social interaction, as well as restricted and repetitive patterns of behavior, interests, or activities. The symptoms must be present early in the developmental period.[1] Approximately one in every 58 children are diagnosed with ASD.[2] Understanding the genetics of autism has not been an easy task, given the clinical and etiological heterogeneity of the disorder. Clinical morphology allows the identification of individuals whose structural development was interrupted during early embryogenesis.[3] The role of clinical morphology in defining the hundreds of syndromes that cause intellectual disabilities suggests that detailing the morphological examination could be useful in autism.[4,5] the phenotypic variability present in a significant percentage of individuals with autism could be used to detect patients with etiologically distinct ASD. Some studies have proposed that part of the children with autism could be identified by physical characteristics depicting abnormal processes that occurred during embryogenesis, dividing them into two subgroups: essential autism and complex autism.[4,5]

Methods

Results

Conclusion