Autism & Developmental

A case of partial trisomy of chromosome 8p associated with autism.

Papanikolaou et al. (2006) · Journal of autism and developmental disorders 2006
★ The Verdict

Even subtle autism can trace to a small extra chunk of chromosome 8p, so keep genetics on the checklist.

✓ Read this if BCBAs working with young girls whose autism seems mild or atypical.
✗ Skip if Clinicians only handling severe, syndromic cases already fully genotyped.

01Research in Context

01

What this study did

Doctors looked at one six-year-old girl who had both autism and a small extra piece of chromosome 8.

They used a blood test called a karyotype to see the extra bit on the short arm of the chromosome.

The team then compared her features to other kids with the same extra piece.

02

What they found

The girl’s autism signs were milder than most kids with that extra 8p piece.

Her face, hands, and growth looked almost typical, so the doctors almost missed the link.

The paper says genes on 8p may raise autism risk even when the body looks normal.

03

How this fits with other research

Baker et al. (2005) saw a four-year-old girl with a mixed 8p and 10p rearrangement and PDD.

That case widens the map: both papers point to 8p as a hot spot, but the 2005 child had more complex DNA and earlier signs.

Gaily et al. (1998) screened 92 kids and found only 3% had any chromosome change.

The big screen seems to clash with the mild single case, yet both agree rare DNA quirks matter—just in a tiny slice of clients.

04

Why it matters

If a child’s autism feels “mild” or doesn’t fit the usual picture, ask the pediatrician about genetic testing.

A simple karyotype may reveal an 8p trisomy and give families a reason, not a cure.

You can still run your ABA plan; just note that medical clarity may ease parent stress and guide future health checks.

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Add one question to your intake: ‘Any genetic test results?’ If none and the profile feels off, suggest the pediatrician consider a karyotype.

02At a glance

Intervention
not applicable
Design
case study
Sample size
1
Population
autism spectrum disorder
Finding
not reported

03Original abstract

We report on a case of a 6-year-old female with partial trisomy 8p(21-23) associated with autism, mild dysmorphic features, and moderate learning disability. Although mental retardation is a common finding in patients with mosaic trisomy 8 or partial trisomy of various regions of chromosome 8, only two cases associated with autism have been reported so far. Also, in our case clinical manifestations were mild compared to other patients with duplication of the same region of chromosome 8. Although there has been no strong evidence for linkage on chromosome 8 in any of the genome-wide linkage studies so far, the possibility that this segment includes genes involved in the etiology of autism should be further explored.

Journal of autism and developmental disorders, 2006 · doi:10.1007/s10803-006-0104-3