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Updated: May 10, 2026

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

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

Published on: April 14, 2017

Investigating microcephaly.

C Geoffrey Woods¹, Alasdair Parker

¹Department of Clinical Genetics, ATC, Addenbrooke's Hospital, Cambridge, UK. cw347@cam.ac.uk

Archives of Disease in Childhood

|July 2, 2013

Summary

This summary is machine-generated.

Microcephaly, a brain size assessment, is not a disease but a clinical finding. Primary microcephaly stems from in utero developmental issues, while secondary microcephaly arises postnatally, often from white matter diseases, with genomic testing aiding diagnosis.

Keywords:

Genetics Neurodevelopment Neurology Paediatric Practice

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Area of Science:

Neuroscience
Genetics
Pediatrics

Background:

Microcephaly is a critical clinical finding, serving as an indicator of intracranial brain volume.
It is essential to distinguish microcephaly as a sign, not an independent disease entity.

Purpose of the Study:

To clarify the definition and classification of microcephaly.
To highlight the etiological heterogeneity and diagnostic advancements in microcephalic conditions.

Main Methods:

Clinical assessment and classification of microcephaly.
Review of etiological factors, including developmental and postnatal causes.
Evaluation of diagnostic tools, focusing on genomic testing.

Main Results:

Microcephaly is defined as a clinical finding, not a disease, reflecting brain volume.
Primary microcephaly results from impaired prenatal neuron generation.
Secondary microcephaly is associated with postnatal conditions, particularly white matter diseases.

Conclusions:

Microcephaly's heterogeneous origins necessitate precise diagnosis.
Genomic testing offers an increasingly accurate method for diagnosing microcephalic conditions.
Understanding the distinction between primary and secondary microcephaly is crucial for management.