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Generation of iPSC-derived Human Brain Organoids to Model Early Neurodevelopmental Disorders

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[How I explore... macrocephaly].

L Vanden Brande¹, S Alkan¹, C Barrea¹

¹Service de Pédiatrie, Département de Neuropédiatrie, CHU Liège, Belgique.

Revue Medicale De Liege

|January 14, 2022

Summary

This summary is machine-generated.

Macrocephaly, an enlarged head in children, can be isolated or indicate serious conditions. Diagnosis involves clinical history, examination, and imaging, with genetics aiding in syndromic cases.

Keywords:

Hydrocephaly Megalencephaly Paediatric Macrocephaly

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Area of Science:

Pediatric Neurology
Clinical Genetics

Background:

Macrocephaly is a common, non-specific neurological sign in pediatric consultations.
It can range from isolated findings to indicators of serious acquired pathologies or syndromic conditions.

Framework:

Clinical assessment forms the cornerstone of the diagnostic strategy for macrocephaly.
Urgent neuroimaging is indicated when signs of increased intracranial pressure are present.
Genetic testing, particularly exome sequencing, is increasingly vital for identifying syndromic causes of macrocephaly associated with neurodevelopmental delay.

Implementation:

This article provides an updated clinical practice guideline for evaluating pediatric macrocephaly.
Emphasis is placed on integrating clinical signs into the diagnostic pathway.
The role of advanced genetic techniques in characterizing complex syndromes is highlighted.

Implications:

Accurate and timely diagnosis of macrocephaly improves patient outcomes.
Understanding the etiological spectrum of macrocephaly aids in targeted management and genetic counseling.
This updated approach facilitates the identification of treatable conditions and associated neurodevelopmental concerns.