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Kleefstra. J Transl Genet Genom 2020;4:464-6 Journal of Translational
DOI: 10.20517/jtgg.2020.53 Genetics and Genomics

Editorial Open Access

Translational aspects in neurodevelopmental
disorders

Tjitske Kleefstra 1,2

1 Department of Human Genetic and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center,
Nijmegen 6500 HB, The Netherlands.
2 Vincent van Gogh, Center for Neuropsychiatry, Venray 5800 AA, The Netherlands.

Correspondence to: Prof. Tjitske Kleefstra, Department of Human Genetics, Radboud University Medical Center, PO Box 9101,
Nijmegen 6500 HB, The Netherlands. E-mail: tjitske.kleefstra@radboudumc.nl
How to cite this article: Kleefstra T. Translational aspects in neurodevelopmental disorders. J Transl Genet Genom 2020;4:464-6
http://dx.doi.org/10.20517/jtgg.2020.53
Received: 20 Nov 2020 Accepted: 20 Nov 2020 Available online: 26 Nov 2020

Academic Editor: Andrea Cerase Copy Editor: Cai-Hong Wang Production Editor: Jing Yu

The past decade has impressively increased the diagnostic possibilities and outcomes for neuro-
developmental disorders (NDDs) [1-5] . Therefore, the scope of this Special Issue “Translational aspects
in neurodevelopmental disorders” is broadened from gene and syndrome discovery to the clinical and
biological understanding of defects underlying the NDDs. As over 50% of underlying genetic defects can
now be identified in individuals with congenital neurodevelopmental problems, this provides challenges
and opportunities for novel trajectories in clinical, molecular, and (fundamental) neurobiology fields.

Excellent studies that cover this broad scope have been peer reviewed and selected for publication in this
Special Issue. Such studies are highly relevant to move this field forward from disorder causation to the
understanding and intervention strategies on various aspects. The manuscript “Intellectual disability, the
[6]
long way from genes to biological mechanisms” describes several aspects in this broad trajectory. More
classical genotype-phenotype studies are shown in two examples: “Spectrum of MECP2 mutations in
Indian females with Rett Syndrome - a large cohort study” and “Assigning single clinical features to their
[7,8]
disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome” .

In addition to genomic technologies, important contributions to brain functioning can be provided by
imaging modalities. The development and application of technologies that can explore important aspects
of the anatomy, physiology, or biochemistry of the central nervous system are given and their properties, as
well as pros and cons, are discussed in the context of several inborn errors of metabolism .
[9]

© The Author(s) 2020. Open Access This article is licensed under a Creative Commons Attribution 4.0
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