Diagnostic tardiv de tulburare de spectru autist şi sindrom Sotos la un pacient cu simptomatologie atipică în copilăria timpurie

Abstract

Autism spectrum disorder (ASD) is a very complex neurodevelopmental disorder whose symptomatology has been reported in several different genetic syndromes, one of which is Sotos syndrome. This syndrome is a congenital disorder, inherited autosomal dominant, being caused by a heterozygous pathogenic variant in the NSD1 gene or a deletion of this gene, which are present in more than 90% of individuals with this clinical diagnosis. We describe the case of a 13-year-old patient diagnosed with autism and Sotos syndrome. Objective. The description of this patient is intended to emphasize the importance of being aware in case of the co-association of ASD with one of the genetic syndromes, in the presence of clinical features not typical for both of them, in order to avoid delays in diagnosis. Conclusions. The late diagnosis of ASD and Sotos syndrome in our patient also leads us to the conclusion that, in cases of speech and communication delays in children, it is necessary to carry out a careful examination and a detailed assessment of the child’s development, including experts such as pediatricians development, child psychiatrists, geneticists, speech therapists etc. This will help to establish an early diagnosis, which is important for the development of follow-up, coordination of multidisciplinary care, treatment and prognosis.