The borderland of autism and Rett syndrome: five case histories to highlight diagnostic difficulties.

The authors looked at five girls who met DSM-III-R autism rules. Each girl also showed full Rett features like hand-wringing, breath-holding spells, and a wobbly walk.

They wrote up each case to show how the two labels can look the same. The goal was to warn clinicians that autism criteria alone can miss Rett syndrome.

Every child carried both diagnoses at once. Shared clues were early normal growth, then skill loss, plus constant hand clasping and odd breathing.

The team guessed both conditions might stem from the same brain-stem problem. They urged doctors to hunt for Rett signs before locking in an autism label.

Wulffaert et al. (2009) later counted symptoms with checklists and found autistic features in about half of Rett cases, proving the overlap is common, not rare.

Wilkinson et al. (1998) went further and carved out a "preserved-speech variant" for autistic girls who keep some words but still show Rett motor loss. This turns the 1989 caution into a named subtype you can screen for today.

Bauman (1991) folds the 1989 cases into a big review, showing the field now teaches the overlap instead of ignoring it.

If you evaluate a girl who meets autism criteria, run a quick Rett checklist before you finish. Ask about lost hand use, breath-holding, and gait changes. If any pop up, refer to genetics. Catching Rett early gives families the right prognosis and keeps your treatment plan honest.