| Abstract | CILJEVI ISTRAŽIVANJA: Ispitati pojavnost PSA te prenatalne, perinatalne i postnatalne rizične čimbenike. Analizirati kliničku sliku, fenotip, komorbiditete i genetsku podlogu PSA. NACRT STUDIJE: Presječno istraživanje s povijesnim podatcima ISPITANICI I METODE: Istraživanje je provedeno u Ambulanti za genetiku i metabolizam Klinike za pedijatriju KBC-a Osijek na 172 djece koji su prvi pregled imali od 1. siječnja 2011. do 31. prosinca 2021. Prikupljeni su podatci iz bolničke dokumentacije: osobna i obiteljska anamneza djeteta, opći podatci o roditeljima te braći i sestrama, podatci o trudnoći i porodu te pre-, peri- i postnatalnim čimbenicima rizika, status i nalazi drugih indiciranih pretraga. REZULTATI: Značajno je veći postotak muških ispitanika (78 %). Od prenatalnih čimbenika rizika izdvaja se roditeljska dob od 35 godina i više te bolesti i uzimanje lijekova, pogotovo s učinkom na SŽS, u trudnoći. Bitnim perinatalnim čimbenicima smatra se Apgar od 7 i manje, rodna masa od 2500 grama i manje te fetalni distres pri porodu. Dok je motorički razvoj urednog tijeka, razvoj govora i socijalni razvoj pokazuju znatna odstupanja. Stereotipne i ritualne radnje prisutne su kod 72 % ispitanika. Drugi indicirani nalazi (audiološko testiranje, neurološke pretrage) bili su većinom uredni. Genotip i fenotip također je u najvećem postotku uredan. Najčešći komorbiditeti su hiperaktivnost, alergije i epilepsija. ZAKLJUČAK: PSA se značajno češće javlja u muške djece i djece s pozitivnim prenatalnim, perinatalnim i postnatalnim čimbenicima rizika s velikim utjecajem genetskih i epigenetskih činitelja. |
| Abstract (english) | OBJECTIVES: The goal was to examine the incidence of ASD as well as prenatal, perinatal and postnatal risk factors, to analyze the clinical characteristics, phenotype, comorbidities and genetic background of ASD. STUDY DESIGN: A cross-sectional study with historical data. PARTICIPANTS AND METHODS: The research was conducted in the Outpatient Clinic for Genetics and Metabolism of the Clinic of Pediatrics, University Hospital Center Osijek. The examinees were 172 children who first visited the Outpatient Clinic between January 1st, 2011 and December 31st, 2021. Data were collected from medical documentation: personal and family history of the child, general data on parents and siblings, pregnancy, childbirth and pre-, peri- and postnatal risk factors, clinical characteristics and findings of other necessary medical examinations. RESULTS: There is a significantly higher percentage of male examinees (78 %). Dominant prenatal risk factors include parental age of ≥ 35 years, illnesses and medication taken during the pregnancy, with special emphasis on drugs that affect the CNS. Important perinatal risk factors cover the Apgar score of ≤ 7, birth weight of ≤ 2500 grams and signs of fetal distress at birth. While motor development was mostly in order, social and speech development show significant divergence. Stereotypical and ritual behavior was present in most children (72 %). Other examinations, including audiological, neurological and genetic testing, were in most cases normal. Genotype and phenotype were also normal in a high percentage. The most common comorbidities are hyperactivity, allergies and epilepsy. CONCLUSION: ASD is significantly more common in male children and children with positive prenatal, perinatal and postnatal risk factors with a sizeable influence of genetic and epigenetic factors |
