Assessment & Research

Profiling early socio-communicative development in five young girls with the preserved speech variant of Rett syndrome.

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

Even 'preserved-speech' Rett toddlers show clear social-communication deficits before regression, so assess and intervene early.

✓ Read this if BCBAs assessing or treating girls with Rett syndrome in early-intervention clinics.
✗ Skip if Practitioners who only serve fully verbal school-age populations.

01Research in Context

01

What this study did

The team watched five toddler girls who carry the 'preserved speech' type of Rett syndrome. Each child was 20-30 months old, well before the usual regression stage.

They used video, parent report, and standardized checklists to map how the girls used eye contact, gestures, sounds, and first words.

02

What they found

Every girl already showed clear social-communication gaps. Most cues were non-verbal and only a handful of words were used.

These delays were present months before any loss of skills, the hallmark of regression in Rett syndrome.

03

How this fits with other research

Amore et al. (2011) extends this warning. They taught toddlers with Down syndrome to imitate and request using verbal behavior tactics. Their positive results show that starting early, even when words are scarce, can pay off.

Takahashi et al. (2023) seems to contradict Leaf et al. (2012). H’s team found that people labeled 'pre-linguistic' due to profound disabilities actually produced quiet but intelligible subvocal speech. The gap is method: H used sensitive amplification, while B relied on typical observation. Both can be true—Rett toddlers may have subtle signals we miss unless we listen very hard.

López-Riobóo et al. (2019) and Vugs et al. (2014) echo the same theme in Down syndrome and SLI: assess early, because communication and memory weaknesses show up sooner than expected.

04

Why it matters

Do not wait for regression. Run a full communication assessment as soon as a Rett diagnosis is suspected. Add amplified listening or visual attention probes to catch soft signals. Then start teaching requests and imitation right away—Amore et al. (2011) shows you can shape first words before further decline, giving the child a stronger foundation to keep.

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Add a quiet subvocal speech check—lean in with a sensitive mic—and run five trials of mand training with echoic prompts.

02At a glance

Intervention
not applicable
Design
case series
Sample size
5
Population
other
Finding
negative

03Original abstract

Rett syndrome (RTT) is a developmental disorder characterized by regression of purposeful hand skills and spoken language, although some affected children retain some ability to speech. We assessed the communicative abilities of five young girls, who were later diagnosed with the preserved speech variant of RTT, during the pre-regression period (aged 12-24 months). Videotapes, obtained by parents during routine family situations and celebrations, were analyzed to identify communicative forms and functions used by these toddlers. Non-verbal communicative forms dominated over verbal-communicative forms for six of the eight identified communication functions. Although the girls used various non-verbal forms to make requests, for example, none of the individuals were observed to make choices or request information. Early peculiarities in the speech-language domain during the first year of life became more prominent and evident during the second year of life as general differences between typical development and atypical development become more obvious in RTT. These findings highlight the importance of assessing socio-communicative forms and functions at early age in children with RTT. The results suggest that speech-language functions did not appear to play a major role in the children's communicative attempts. We conclude that, even among children with the preserved speech variant, socio-communicative deficits are present before regression and persist after this period.

Research in developmental disabilities, 2012 · doi:10.1016/j.ridd.2012.04.012