Autism & Developmental

Regulation of cerebral cortical size and neuron number by fibroblast growth factors: implications for autism.

Vaccarino et al. (2009) · Journal of autism and developmental disorders 2009
★ The Verdict

Broken FGF genes may give autistic kids too many excitatory neurons, linking big brains to sensory and seizure problems.

✓ Read this if BCBAs working with autistic clients who have large heads, sensory issues, or epilepsy.
✗ Skip if Clinicians looking for ready-to-use genetic tests or behavior protocols.

01Research in Context

01

What this study did

The authors built a theory. They asked: could broken FGF genes make autistic brains grow too big?

They read animal and human data. Then they linked FGF problems to extra excitatory neurons.

No kids were tested. The paper is a map, not an experiment.

02

What they found

Too much FGF activity early in life may push the brain to make extra excitatory neurons.

This overgrowth could explain big heads, sensory overload, and seizures in many autistic children.

03

How this fits with other research

Pan et al. (2021) pooled 30 years of data. They show macrocephaly and epilepsy are more common in autism. Cramm et al. (2009) gives one genetic story for why.

Jennett et al. (2003) found autistic kids with big heads often have high non-verbal scores. The FGF model fits: more cortex could boost visual-spatial skill while language lags.

Weiss et al. (2001) saw fewer GABA receptors in autistic hippocampus. Fewer brakes plus extra gas (excitatory neurons) matches the FGF idea of an unbalanced network.

Matson et al. (2011) looked at real brain slices. Cortex layers were messy but total neuron count was normal. This extends the theory: FGF may mis-place cells, not just make more.

04

Why it matters

You can’t test FGF genes in clinic today, but you can track head growth and seizure history. If you see a big-headed client with sound sensitivity, know the brain may be wired hot. Share this info with neurologists and tailor your ABA plan: use low-arousal rooms, short sessions, and visual supports. The theory also reminds us to watch for epilepsy—refer when you see staring spells or regression.

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→ Action — try this Monday

Measure and plot head circumference on your intake form—flag any value above 95th percentile for medical follow-up.

02At a glance

Intervention
not applicable
Design
theoretical
Population
autism spectrum disorder
Finding
not reported

03Original abstract

Increased brain size is common in children with autism spectrum disorders. Here we propose that an increased number of cortical excitatory neurons may underlie the increased brain volume, minicolumn pathology and excessive network excitability, leading to sensory hyper-reactivity and seizures, which are often found in autism. We suggest that Fibroblast Growth Factors (FGF), a family of genes that regulate cortical size and connectivity, may be responsible for these developmental alterations. Studies in animal models suggest that mutations in FGF genes lead to altered cortical volume, excitatory cortical neuron number, minicolumn pathology, hyperactivity and social deficits. Thus, many risk factors may converge upon FGF-regulated pathogenetic pathways, which alter excitatory/inhibitory balance and cortical modular architecture, and predispose to autism spectrum disorders.

Journal of autism and developmental disorders, 2009 · doi:10.1007/s10803-008-0653-8