Neurodevelopmental disorders: 2024 update.

Area of Science:

• Neuroscience
• Genetics
• Developmental Biology

Background:

• Neurodevelopmental disorders (NDDs) like intellectual disability and autism spectrum disorder manifest in childhood.
• Over 1,500 genes, including transcriptional regulators and chromatin modifiers, are implicated in NDDs.
• Genetic factors beyond protein-coding genes, such as RNA, non-coding DNA, and transposable elements, are increasingly recognized.

Purpose of the Study:

• To review significant progress in understanding the genetic and molecular underpinnings of NDDs.
• To highlight advancements in neuroimaging for characterizing brain development and pathology.
• To explore the integration of new technologies for diagnosis, prognosis, and precision medicine in NDDs.

Main Methods:

• Review of recent scientific literature on NDDs.
• Analysis of genetic data, including whole-exome sequencing and identification of de novo variants.
• Application of machine learning to neuroimaging data and development of digital atlases for fetal brain development.

Main Results:

• Identification of over 1,500 genes involved in NDDs, emphasizing diverse molecular players.
• Demonstration of how dysregulation of RNA, non-coding DNA, and transposable elements contributes to NDDs.
• Advancements in in vivo neuroimaging techniques provide novel insights into neuronal cytoarchitecture.

Conclusions:

• Genetic diagnoses for NDDs are improving, offering critical insights into neuropathology.
• New approaches, including advanced neuroimaging and genetic analysis, are vital for precision medicine.
• Understanding fetal brain development is crucial for addressing cognitive functions and NDDs.