Genetic testing for paediatric neurological disorders.
Paediatric neurological disorders encompass a large group of clinically heterogeneous diseases, of which some are known to have a genetic cause. Over the past few years, advances in nosological classifications and in strategies for molecular testing have substantially improved the diagnosis, genetic counselling, and clinical management of many patients, and have facilitated the possibility of prenatal diagnoses for future pregnancies. However, the increasing availability of genetic tests for paediatric neurological disorders is raising important questions with regard to the appropriateness, choice of protocols, interpretation of results, and ethical and social concerns of these services. In this Review, we discuss these topics and how these concerns affect genetic counselling.
Valente
Enza Maria
EM
Casa Sollievo della Sofferenza Hospital, Mendel Institute, Rome, Italy. e.valente@css-mendel.it
Ferraris
Alessandro
A
Dallapiccola
Bruno
B
D002648:Child; D003937:Diagnosis, Differential; D042241:Early Diagnosis; D006580:Genetic Carrier Screening / Q000379:methods; D005817:Genetic Counseling / Q000941:ethics / Q000639:trends*; D005819:Genetic Markers / Q000941:ethics / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000941:ethics / Q000379:methods* / Q000639:trends*; D006801:Humans; D009422:Nervous System Diseases / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D011237:Predictive Value of Tests
D005819:Genetic Markers