Neurodevelopmental Disorders Associated with Gene Variants

Dear Colleagues,

Rare brain monogenic and polygenic disorders, and neurodevelopmental disorders in general, are caused or modified by gene alterations and gene–environment interactions. These disorders of infants and children can determine a series of major and long-lasting abnormalities related to a series of essential neurodevelopmental milestones. Indeed, many genes, genetic variants and gene mutations are possibly linked to neurodevelopmental disorders (NDDs). The large number of genes possibly involved in NDDs also explains the wide clinical heterogeneity and severity range of these disorders.

In addition, genotype–phenotype correlations, including imaging and neurophysiological assessments, are especially challenging in order to provide an exhaustive picture of the possible clinical progression in most cases. This scenario is also due to the difficulties in identifying and establishing the confirmed existence of effective interactions between single or multiple genetic variants with non-genetic factors, including environmental and cultural factors, which can greatly modify either diagnostic, prognostic or therapeutic criteria and their applicability. So, altogether, methodological aspects and clinical considerations heavily determine the possible long-term clinical and social consequences for these young and adult patient populations.

With this Special Issue dedicated to the publication of any innovative and robust research data, from clinical to bench research investigations of any neurodevelopmental disorder, we aim to provide to clinicians, health care providers, researchers, as well as patients’ advocacy groups and families with a valid and reliable instrument of updated information about the most recent findings and discoveries related to brain and brain-related developmental disorders either due to rarer genetic variants or known single-gene mutations affecting the central (CNS), peripheral (PNS) and enteric nervous system (ENS).

Dr. Diego Iacono
Guest Editor

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• pathomechanisms of rare CNS disorders
• brain development abnormalities
• pediatric neurodegeneration
• genetic causes and metabolic consequences
• neuro-neonatology
• gut–brain axis disorders
• early interventions
• new compounds
• non-pharmacological treatments