[Neurodevelopmental disorders: from the laboratory to the classroom]

Area of Science:

• Child neurology
• Genetics
• Developmental biology

Background:

• Neurodevelopmental disorders are common in child neurology.
• Current diagnostic classifications, established in the 1970s, are symptom-based.
• Despite changes, the fundamental diagnostic process has remained consistent.

Purpose of the Study:

• To introduce a new classification system for neurodevelopmental disorders.
• To shift focus from symptom clusters to underlying molecular deficits.
• To enable targeted, potentially curative interventions.

Main Methods:

• Analyzing the association between genetic defects and clinical phenotypes.
• Investigating cognitive and compartmental phenotypes in genetic disorders.
• Reviewing progress in identifying molecular causes of neurodevelopmental conditions.

Main Results:

• Significant progress has been made in linking genetic defects to specific phenotypes.
• High associations are observed between cognitive phenotypes and genetic defects like Neurofibromatosis and Down syndrome.
• Rare diseases show strong associations between various cognitive/compartmental phenotypes and molecular causes.

Conclusions:

• A molecular-based classification offers a promising future for neurodevelopmental disorders.
• Identifying molecular deficits allows for tailored interventions.
• This approach holds potential for curative treatments, advancing beyond current symptom management.