Genetski vzroki dihalnih premorov pri novorojenčkih so zelo heterogeni. Geni, vpleteni v nastanek, večinoma nosijo zapis za beljakovine, ki so vključene v razvoj lobanjskih in obraznih kosti, razvoj in funkcijo osrednjega in perifernega živčnega sistema in mišic. V diagnostičnem procesu ima pomembno vlogo zgodnja genetska obravnava in genetsko testiranje. Opredelitev genetskega vzroka dihalnih premorov lahko omogoči usmerjeno zdravljenje, boljšo napoved poteka bolezni in reproduktivno svetovanje družini.
Genetic Causes of Apnoea in the Neonate
The genetic causes of neonatal apnoea are very diverse. Genes responsible for neonatal apnoea include, among others, those encoding proteins important for craniofacial development, proteins involved in the development and function of the central and peripheral nervous systems, and muscles. Genetic testing plays a significant part in the diagnostic process, as identifying the genetic cause of apnoea can provide important information for the treatment, prognosis, and reproductive counselling for the family.