Assessment & Research

Features of autism in Rett syndrome and severe mental retardation.

Mount et al. (2003) · Journal of autism and developmental disorders 2003
★ The Verdict

After matching for development, Rett syndrome shows more sensory and social oddities than severe MR, but not the full autism picture.

✓ Read this if BCBAs who assess girls with severe developmental delay in clinic or school settings.
✗ Skip if Practitioners working only with verbal boys with mild ASD.

01Research in Context

01

What this study did

The team gave the Autism Behavior Checklist (ABC) to girls with Rett syndrome and to girls with severe mental retardation. They matched the groups for age and motor skills so the scores would not be swayed by those factors.

The goal was to see if Rett syndrome looks more "autistic" than plain severe MR once you hold development level steady.

02

What they found

Rett girls scored higher on only two ABC parts: Sensory and Relating. On the other four parts the two groups looked the same.

So Rett syndrome adds extra sensory and social quirks, but it does not show the full autism pattern seen in idiopathic ASD.

03

How this fits with other research

Donahoe et al. (2000) also used the ABC and found that kids with autism beat an MR-only group on every repetitive-behavior item. Reid et al. (2003) now shows Rett kids do NOT beat the MR group on those same items. The gap closes because Rett lacks the wide-ranging autism profile.

Kraijer (2000) warned that when you match MR groups you should use self-help and motor scores, not social scores. H et al. followed that tip, matching on motor level, so their Sensory/Relating gap is more believable.

Castañe et al. (1993) watched two Rett girls in analogue sessions and saw hand stereotypies pop off no matter what was happening around them. H et al.'s ABC data back this up: the Rett group did not outscore MR on the Body & Object Use subscale, meaning the stereotypies are present but not uniquely severe.

04

Why it matters

If you assess a girl who has both MR and odd sensory or social reactions, do not jump to an autism label. Check for Rett first; the ABC can help you spot the narrower pattern. Use the Sensory and Relating subscale jumps as red flags, but lean on genetic testing and history for the final call. This keeps diagnoses clean and guides you to Rett-specific supports like breathing exercises and hand-use programs instead of generic ASD packages.

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Pull the ABC Sensory and Relating raw scores for any girl on your caseload with MR; if both are high, refer for Rett genetic testing before writing an autism goal.

02At a glance

Intervention
not applicable
Design
quasi experimental
Population
intellectual disability, other
Finding
mixed

03Original abstract

It has long been recognized that there is phenotypic overlap between Rett syndrome (RS) and autism. Advances in our clinical and genetic understanding of RS over the past decade have made clear that the cause and course of RS and autism are distinct (except perhaps in a few cases). Despite this, further delineation of the phenotypic overlap between RS and autism is warranted to enhance clinical decision-making and to further understanding of neuropathological development in both disorders. The present study measured autistic symptoms using the Autism Behavior Checklist (ABC) in a sample of girls with RS and a comparison group of girls with severe and profound mental retardation (SMR). Controlling for developmental level and motor ability, girls with RS scored more highly than those with SMR on the Sensory and Relating subscales. In contrast, there were no group differences on the Body and Object use, Language and Social and Self-help subscales. Further work on the characterisation of the behavioral phenotype of genetic disorders such as RS and autism may aid in identifying the neuropathogenic processes that lead from gene-to-brain-to-behavior.

Journal of autism and developmental disorders, 2003 · doi:10.1023/a:1025066913283