Autism & Developmental

Two boys with 47, XXY and autism.

Merhar et al. (2007) · Journal of autism and developmental disorders 2007
★ The Verdict

Autism plus Klinefelter syndrome can hide silent EEG spikes; a routine EEG lets you act before seizures begin.

✓ Read this if BCBAs who assess school-age boys with autism and language delay.
✗ Skip if Clinicians only treating verbal adults with no genetic concerns.

01Research in Context

01

What this study did

Doctors wrote up two boys who had both autism and Klinefelter syndrome (47, XXY).

They listed each boy’s words, seizure tests, and medicines tried.

02

What they found

Both boys talked late and had odd EEGs, but no seizures yet.

Anti-seizure drugs did not help the EEGs.

03

How this fits with other research

Gotham et al. (2015) saw more real seizures in pre-term autistic boys. L et al.’s boys were full-term and only had EEG spikes. The risk looks tied to birth age, not a clash in data.

Souza et al. (2023) widen the picture: autistic girls actually show more epilepsy than boys. So EEG checks matter for both sexes, even though L et al. only had males.

Flapper et al. (2013) review shows fragile X, Rett, and other gene syndromes often bring seizures. Klinefelter now joins that watch list.

04

Why it matters

If you assess an autistic boy with slow language, ask about sex-chromosome history and order a baseline EEG. Early spikes can guide sleep, medication, and family training before true seizures start.

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Add one question to intake: “Any extra X chromosomes?” If yes, refer for EEG.

02At a glance

Intervention
not applicable
Design
case series
Sample size
2
Population
autism spectrum disorder
Finding
not reported

03Original abstract

Two children with autism and Klinefelter syndrome (KS) (47, XXY) are presented. Both qualify for the diagnosis of autism based on DSM-IV with severely delayed and disordered language, difficulties with social interaction, and a restricted range of interests and activities. Both also have abnormal EEGs, and one patient has had what appear to be clinical seizures. Trials of antiepileptic medications have not been beneficial in either patient. We report the clinical and EEG findings of each patient, and discuss the implications of this combination of disorders.

Journal of autism and developmental disorders, 2007 · doi:10.1007/s10803-006-0211-1