Literature DB >> 19007736

Genetic testing for paediatric neurological disorders.

Enza Maria Valente1, Alessandro Ferraris, Bruno Dallapiccola.   

Abstract

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.

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Year:  2008        PMID: 19007736     DOI: 10.1016/S1474-4422(08)70257-6

Source DB:  PubMed          Journal:  Lancet Neurol        ISSN: 1474-4422            Impact factor:   44.182


  5 in total

Review 1.  Genetics of hereditary neurological disorders in children.

Authors:  Yue Huang; Sui Yu; Zhanhe Wu; Beisha Tang
Journal:  Transl Pediatr       Date:  2014-04

2.  A survey of ethical and professional challenges experienced by Spanish health-care professionals that provide genetic counseling services.

Authors:  Reyes Abad-Perotín; Ángel Asúnsolo-Del Barco; Agustín Silva-Mato
Journal:  J Genet Couns       Date:  2011-06-24       Impact factor: 2.537

3.  Investigating the role of genetic counseling in neuromuscular disease considering life events.

Authors:  Yuka Shibata; Ichiro Yabe; Masaaki Matsushima; Naoki Hashimoto; Takahiro Yamada; Hidenao Sasaki
Journal:  J Hum Genet       Date:  2019-03-13       Impact factor: 3.172

4.  Presymptomatic training mitigates functional deficits in a mouse model of Rett syndrome.

Authors:  Nathan P Achilly; Wei Wang; Huda Y Zoghbi
Journal:  Nature       Date:  2021-03-24       Impact factor: 69.504

5.  Next-generation sequencing is a powerful method to enhance diagnostic yield in global developmental delay/intellectual disability.

Authors:  Jon Soo Kim
Journal:  Clin Exp Pediatr       Date:  2020-06-11
  5 in total

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