Assessment & Research

Changing the perspective on early development of Rett syndrome.

Marschik et al. (2013) · Research in developmental disabilities 2013
★ The Verdict

Rett babies show speech-language delays long before regression, so screen early and start therapy right away.

✓ Read this if BCBAs who assess or treat girls with Rett syndrome or other rare genetic conditions.
✗ Skip if Clinicians only serving older clients with stable skills.

01Research in Context

01

What this study did

The team looked at home videos of babies who were later diagnosed with Rett syndrome. They watched how each baby used sounds and gestures before age two.

They compared what they saw to the old belief that these babies develop normally until regression hits.

02

What they found

Every baby already showed clear speech-language delays in the first two years. Babble was late, eye contact was brief, and shared sounds were rare.

The data say the 'normal pre-regression' story is wrong. Delays are present long before the obvious loss of skills.

03

How this fits with other research

Leaf et al. (2012) found the same thing in toddlers with the 'preserved speech' variant. Those girls also had big socio-communicative gaps before regression. Together, the two papers form a direct replication: early delay is the rule, not the exception.

Ortiz et al. (2014) showed that preschoolers at risk for dyslexia already struggle with rapid sound patterns. Like the Rett babies, the warning signs show up before the main problem is visible.

Takahashi et al. (2023) looked at people labeled 'pre-linguistic' due to profound disabilities and discovered quiet but real subvocal words. The Rett study and the PMLD study both tell us to doubt claims of 'no language.' If you look deeper, you often find capacity that was missed.

04

Why it matters

Stop waiting for regression. Start measuring babble, eye contact, and turn-taking as soon as a girl is flagged for possible Rett. Early data give you a baseline for intervention and help families understand that delays are part of the syndrome from the start.

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Pull up any home video you can find and count babble bursts and eye contact episodes—note the numbers in the baseline section of the plan.

02At a glance

Intervention
not applicable
Design
case series
Sample size
15
Population
other
Finding
negative

03Original abstract

We delineated the achievement of early speech-language milestones in 15 young children with Rett syndrome (MECP2 positive) in the first two years of life using retrospective video analysis. By contrast to the commonly accepted concept that these children are normal in the pre-regression period, we found markedly atypical development of speech-language capacities, suggesting a paradigm shift in the pathogenesis of Rett syndrome and a possible approach to its early detection.

Research in developmental disabilities, 2013 · doi:10.1016/j.ridd.2013.01.014