İzole Konuşma Gecikmesi Saptanan 24-72 Ay Arasındaki Çocuklarda Genetik Nedenlerin İncelenmesi

Abstract

Hajiyeva A., Examination of genetic causes in children aged 24-72 months with isolated speech delay, Hacettepe University Faculty of Medicine, Department of Pediatrics, Thesis, Ankara, 2023. Language and speech are one of the basic ways of communication between people. Speech delay is considered if the child does not start to speak or lags behind his peers, tries to communicate with signs or single words, and cannot form sentences even though he has reached a certain age. The disorders such as autism, intellectual disability, and hearing loss are first suspected cases in children with speech delays. In addition to these, many factors such as the child’s social environment, the socioeconomic status of the family, the number of siblings, the personality of the child, and the attitude of the person who cares for the child are effective on speech and language development. Even excluding all the above causes of speech delay, there is a group of children with developmental language disorders known as “early language delay” or “specific language disorder”. Specific language disorder is a disorder in the understanding and production of language in the absence of any obvious neurological damage, cognitive retardation, hearing loss, or neurodevelopmental disorders such as autism. For this reason, it is important to perform genetic tests after excluding other causes in speech delay which has a wide range of risk factors. Children with isolated speech delay and language disorders are often not genetically evaluated despite the recent evidences supporting the role of genetic factors in the etiology of this disorder. In this study, it was aimed to determine the underlying genetic causes of speech delay in children presenting with isolated speech delay. Forty-one patients aged 24-72 months who applied to Hacettepe University İhsan Doğramacı Children’s Hospital Developmental Pediatrics Polyclinic with the complaint of speech delay between December 2021 and May 2022 and were found to have isolated speech delay were included in the study. Chromosome testing was performed in 18 of the patients with isolated speech delay. Chromosome analysis was considered normal in 99% (n=17) of the patients who underwent karyotype analysis. Inversion was detected in the chromosome analysis of a female patient with isolated speech delay. Microarray analysis was performed for further genetic evaluation of the patient, and no copy number changes were observed. The same inversion was found in the chromosome analysis of the patient's mother, whose parents were also karyotyped. The inversion detected in the patient was not considered significant because it was also detected in the healthy mother.