Diagnostic approach to paediatric movement disorders: a clinical practice guide

Area of Science:

• Neurology
• Genetics
• Paediatrics

Background:

• Paediatric movement disorders (PMDs) encompass a diverse range of conditions with often overlapping symptoms.
• Identifying the specific aetiology of PMDs is frequently complicated by broad differential diagnoses and intricate genotype-phenotype correlations.
• The diagnostic journey for PMDs can be protracted and challenging for clinicians.

Purpose of the Study:

• To present a structured, eight-step diagnostic approach for paediatric movement disorders.
• To emphasize the role of genetic causes and advanced genetic testing in diagnosing PMDs.
• To enhance the recognition and diagnostic success rate for paediatric movement disorders.

Main Methods:

• A systematic, eight-step diagnostic framework is proposed for clinicians.
• The approach integrates clinical assessment, syndrome identification, and consideration of acquired causes.
• Key components include genetic testing strategies, such as next-generation sequencing, and subsequent phenotyping and result interpretation.

Main Results:

• The presented framework provides a clear pathway for diagnosing paediatric movement disorders.
• It guides clinicians in determining the most appropriate diagnostic tests, including next-generation sequencing.
• The approach aims to streamline the diagnostic process and improve overall diagnostic yield.

Conclusions:

• This paper offers an updated description and a practical diagnostic framework for paediatric movement disorders.
• The proposed framework assists in identifying patients who would benefit from next-generation sequencing.
• Implementing this structured approach can lead to more efficient and accurate diagnoses of PMDs.