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Special Issue "Genetic Diagnosis in Children with Developmental Delay"
A special issue of Children (ISSN 2227-9067). This special issue belongs to the section "Child Neurology".
Deadline for manuscript submissions: closed (28 February 2023) | Viewed by 5389
Special Issue Editor
2. Department of Pediatrics, Fu-Jen Catholic University Hospital, New Taipei City 243, Taiwan
Interests: pediatric neurology; epilepsy; child development and developmental delay; neurological critical care; medical education
Special Issue Information
Developmental delays have major impacts on children in the developing stage, which cause various degrees of motor delay, intellectual disabilities, epilepsy, and other deficits. The diagnoses of developmental delay are dependent on traditional screening by questionnaire checklists followed by a group of specialists working on pediatric, neurological, psychiatric, and psychological evaluations. The clinical complexity and uncertainty make a definite clinical diagnosis difficult.
The introduction of recent advances in neurogenetic testing in the past two decades, such as target panel testing and whole-exome or whole-genome sequencing, can give a potential etiologic diagnosis of children with developmental delay. More and more genetic problems have been discovered from common clinical phenotypes of developmental delay, including global delay, attention deficient hyperactivity disorder, autistic spectrum disorder, intellectual disability, or specific genetic syndromes. Identification of genetic mutation can help to deliver appropriate genetic counseling and care plans for patients and their families.
This Special Issue is dedicated to compiling the most recent knowledge about genetic diagnosis in children with developmental delay.
Prof. Dr. Kun-Long Hung
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Children is an international peer-reviewed open access monthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2000 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
polymerase chain reaction (PCR)
fluorescence in situ hybridization (FISH)
array comparative genomic hybridization (array CGH)
target panel testing
whole exome sequencing
whole genome sequencing