Assessment & Research

Contributing to the early detection of Rett syndrome: the potential role of auditory Gestalt perception.

Marschik et al. (2012) · Research in developmental disabilities 2012
★ The Verdict

Brief babbling clips let untrained listeners flag Rett syndrome risk before clinical signs appear.

✓ Read this if BCBAs working with infants in early-intervention or diagnostic clinics.
✗ Skip if BCBAs serving only school-age or adult clients.

01Research in Context

01

What this study did

Researchers played 10-second audio clips of baby girls to the adult listeners. Half the clips came from girls later diagnosed with Rett syndrome. The other half came from typically developing babies. Listeners simply said which clips sounded "different."

The team tested two types of sounds: soft cooing and canonical babbling like "ba-ba-ba." All babies were between 9-18 months old, before doctors spotted Rett syndrome.

02

What they found

Untrained adults spotted Rett syndrome a large share of the time just from babbling clips. They did worse on cooing sounds, only a large share correct.

Canonical babbling gave the clearest signal. This means subtle vocal differences show up months before classic hand-wringing or skill loss appears.

03

How this fits with other research

Raslear et al. (1992) first mapped how girls with Rett syndrome communicate after regression, noting most use eye contact instead of sounds. The new study flips the timeline, showing vocal differences exist before regression even starts.

Repp et al. (1992) tracked one girl who lost then partly regained communication skills. Their case study hinted that early markers might exist. The 2012 data now proves average listeners can hear those markers in babbling.

Bauman (1991) described classic Rett features appearing after 6-18 months of normal development. This paper adds a practical tool: brief audio screening during that exact window when babies still seem typical.

04

Why it matters

You can add a 30-second audio check to any early intervention intake. Record the child babbling during play, have two staff members listen, and flag anything that sounds "off." This costs nothing yet could speed referral by months.

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→ Action — try this Monday

Record 10 seconds of canonical babbling during your next infant session. Ask a colleague to blindly rate if it sounds typical or atypical.

02At a glance

Intervention
not applicable
Design
other
Population
other
Finding
positive

03Original abstract

To assess whether there are qualitatively deviant characteristics in the early vocalizations of children with Rett syndrome, we had 400 native Austrian-German speakers listen to audio recordings of vocalizations from typically developing girls and girls with Rett syndrome. The audio recordings were rated as (a) inconspicuous, (b) conspicuous or (c) not able to decide between (a) and (b). The results showed that participants were accurate in differentiating the vocalizations of typically developing children compared to children with Rett syndrome. However, the accuracy for rating verbal behaviors was dependent on the type of vocalization with greater accuracy for canonical babbling compared to cooing vocalizations. The results suggest a potential role for the use of rating child vocalizations for early detection of Rett syndrome. This is important because clinical criteria related to speech and language development remain important for early identification of Rett syndrome.

Research in developmental disabilities, 2012 · doi:10.1016/j.ridd.2011.10.007