Autism & Developmental

Two sisters with Rett syndrome.

Haenggeli et al. (1990) · Journal of autism and developmental disorders 1990
★ The Verdict

Rett syndrome can look different in two sisters, so watch for varied seizure onset and keep communication goals flexible.

✓ Read this if BCBAs who assess or write plans for girls with Rett or severe-profound ID.
✗ Skip if Clinicians only serving boys or adults with acquired brain injury.

01Research in Context

01

What this study did

Iwata et al. (1990) wrote a short report about two adult sisters who both have Rett syndrome.

The authors simply described what the women looked like, how they moved, and when their seizures began.

No treatment was tested; it is a plain case series meant to show doctors how the illness can vary inside one family.

02

What they found

Both sisters had classic hand-wringing and could not talk, yet the age when seizures started was very different.

This single pair shows that even relatives with the same gene change can follow their own timetable.

03

How this fits with other research

Bauman (1991) pulled together every early Rett paper and included this pair, saying such family reports help map the full picture.

Wilkinson et al. (1998) later widened the lens by describing thirty women who still had some speech, proving Rett is not one-size-fits-all.

Doughty et al. (2002) surveyed many adults and found they showed less irritability than other adults with ID, backing the idea that behavior profiles can differ even within the same diagnosis.

Together the papers trace a line: first came tiny family stories, then bigger surveys, then recognition of milder variants.

04

Why it matters

If you meet a girl who regresses after a year of normal growth, think Rett even if her cousin with Rett looks very different.

Expect seizures to start at any age and watch for small gains in eye-gaze or hand use; these details shape your communication plan and help families set realistic timelines.

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→ Action — try this Monday

Note the age of first seizure in the girl’s file and add an eye-gaze response program to her plan today.

02At a glance

Intervention
not applicable
Design
case series
Sample size
2
Population
other
Finding
not reported

03Original abstract

We present the clinical histories and physical findings of two sisters with Rett syndrome. The physical examination, combined with a review of their medical charts, revealed that both patients met the necessary criteria for the diagnosis of Rett syndrome as defined by the Rett syndrome diagnostic criteria work group. The older sister, currently 25 years of age, is typically affected, whereas the younger sister, currently 22 years of age, is affected with a seizure disorder showing an unusually early onset.

Journal of autism and developmental disorders, 1990 · doi:10.1007/BF02206862