Assessment & Research

Head circumferences in twins with and without Autism Spectrum Disorders.

Froehlich et al. (2013) · Journal of autism and developmental disorders 2013
★ The Verdict

Big heads run in families of autistic children; the trait is inherited, not a marker of autism itself.

✓ Read this if BCBAs who track physical growth or medical red flags in kids with ASD.
✗ Skip if Clinicians focused only on skill acquisition with no medical screening role.

01Research in Context

01

What this study did

Froehlich et al. (2013) measured head size in twin pairs. One twin had autism, the other did not.

They used a tape measure around the widest part of the skull. They noted how many kids had macrocephaly, that is, a head size above the 97th percentile.

02

What they found

Head size was the same in both groups. The autistic twins were not more likely to have big heads.

About the same number of unaffected twins also had macrocephaly. The trait ran in families, not in autism itself.

03

How this fits with other research

McMillan et al. (1999) saw macrocephaly in 1 of every 6 autistic children. Wendy et al. show the rate is the same in unaffected co-twins, so the big head is inherited, not caused by autism.

Cederlund et al. (2014) found only 3 % macrocephaly in preschoolers with autism. The low number looks like a clash, but Mats studied random preschoolers while Wendy studied twins. Twins share genes, so the inherited big-head trait shows up more clearly in them.

Geurts et al. (2008) reported larger head size at 12 months in infant siblings who later developed autism. Again, the groups differ: infant siblings are high-risk babies, while Wendy’s twins were school-age. Early fast growth may fade by middle childhood.

04

Why it matters

Stop using macrocephaly as an autism red flag. Instead, see it as a family trait that may sit next to autism but does not cause it. When you measure head circumference, compare it with the child’s siblings and parents, not just growth charts. This shift keeps you from over-interpreting a single physical sign.

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Plot the client’s head size against siblings and parents before labeling it abnormal.

02At a glance

Intervention
not applicable
Design
other
Sample size
404
Population
autism spectrum disorder
Finding
null

03Original abstract

To determine the genetic relationship between head circumference (HC) and Autism Spectrum Disorders (ASDs). Twin pairs with at least one twin with an ASD were assessed. HCs in affected and unaffected individuals were compared, as were HC correlations in monozygotic and dizygotic pairs. 404 subjects, ages 4-18, were included. 20 % of males and 27 % of females with an ASD had macrocephaly. Unaffected co-twins showed similar rates (16 % of males and 22 % of females). Statistical analysis revealed no significant difference in HCs between affected and unaffected twins. Twins with ASDs and unaffected co-twins have similar HCs and increased rates of macrocephaly. Correlations demonstrated partial inheritance of HCs. Thus, macrocephaly may represent an endophenotype in ASDs.

Journal of autism and developmental disorders, 2013 · doi:10.1016/s0191-8869(99)00258-5