Autism & Developmental

The association between autism spectrum disorders and congenital anomalies by organ systems in a Finnish national birth cohort.

Timonen-Soivio et al. (2015) · Journal of autism and developmental disorders 2015
★ The Verdict

Visible birth defects of the eye, brain, or skull double the chance of later ASD, especially when ID is also present.

✓ Read this if BCBAs who assess infants or sit on early-intervention teams.
✗ Skip if Clinicians working only with verbal adults.

01Research in Context

01

What this study did

Sparaci et al. (2015) checked every child born in Finland between 1987 and 2007.

They used national registries to count who later got an ASD or ASD-plus-ID diagnosis.

Then they looked back at birth records to see who had eye, brain, face, heart, or other birth defects.

02

What they found

Kids with ASD were twice as likely to have eye, brain, or skull anomalies recorded at birth.

The link was strongest for children who also had intellectual disability.

The pattern points to trouble in the first three months of pregnancy when these body parts form.

03

How this fits with other research

Pan et al. (2021) pooled 39 studies and saw the same CNS signal Laura found, plus epilepsy and cerebral palsy.

Balaum et al. (2026) moved the lens forward: babies whose head size stayed in the top or bottom 5 % all year had 6- to 9-fold ASD odds.

Stewart et al. (2018) seems to disagree—they saw no steady link between fetal head size and later traits. The gap is method: E looked at single ultrasound snapshots, Laura and Rewaa used full growth curves or visible anomalies.

Perales-Marín et al. (2021) widened the window, showing each ASD subgroup carries its own prenatal risk fingerprint, not just birth defects.

04

Why it matters

When you see eye, brain, or facial differences in an infant, flag for developmental watch. Pair this with routine head-circumference tracking at every well-baby visit. Early alerts buy time for quicker referral, earlier screening, and faster start of ABA if needed.

Free CEUs

Want CEUs on This Topic?

The ABA Clubhouse has 60+ free CEUs — live every Wednesday. Ethics, supervision & clinical topics.

Join Free →
→ Action — try this Monday

Add head-circumference percentile checks to your intake form for any baby with eye, brain, or craniofacial anomalies.

02At a glance

Intervention
not applicable
Design
other
Sample size
4441
Population
autism spectrum disorder, intellectual disability
Finding
not reported

03Original abstract

The aim of this study was to evaluate the association between autism spectrum disorders (ASD) with and without intellectual disability (ID) and congenital anomalies (CAs) by organ system. The sample included all children diagnosed with ASD (n = 4441) from the Finnish Hospital Discharge Register during 1987-2000 and a total of four controls per case (n = 17,695). CAs of the eye, central nervous system, and specific craniofacial anomalies were most strongly associated with ASD. Children with ASD and co-occurring ID were more likely to have CAs compared to ASD children without ID. The results suggest that some cases of ASD may originate during organogenesis, in the early first trimester of pregnancy. The results of this study may be useful for identifying prenatal etiological factors and elucidating the molecular pathogenesis of ASD.

Journal of autism and developmental disorders, 2015 · doi:10.1007/s10803-015-2477-7