Genetic Diagnosis in Children with Developmental Delay

Dear Colleagues,

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
Guest Editor

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