Autism in Angelman syndrome: an exploration of comorbidity.
Most kids with Angelman syndrome pass the ADOS autism cutoff, but low mental age can fake the score—watch real social joy before you diagnose.
01Research in Context
What this study did
Trillingsgaard et al. (2004) watched 16 children with Angelman syndrome. They gave each child the ADOS-G, a gold-standard autism test. The team wanted to see how many would hit the autism cutoff.
They also checked each child's mental age. The goal was to learn if Angelman behaviors look like autism or just slow development.
What they found
Thirteen of the 16 kids scored above the ADOS-G autism line. That is 81 percent, a very high rate.
Yet the authors say the scores may lie. Low mental age alone can create 'false positives.' The kids waved, flapped, and avoided eye contact, but the writers call this delay, not true autism.
How this fits with other research
Walz (2007) asked 248 parents the same question and got the same warning. Autistic-like signs are common in Angelman, but the pattern differs from idiopathic ASD. The big survey extends the target's caution to a wider age span.
Mertz et al. (2014) tracked the same deletion subtype for 12 years. Autistic features stayed flat while receptive language slowly rose. The follow-up supports the delay view; it supersedes the old idea of a fading autism trajectory.
Thompson et al. (2003) seems to disagree. Their single teen with paternal-uniparental-disomy Angelman showed almost no autistic signs. The clash is real but genetic: deletion cases (target) look more autistic than paternal-UPD cases (John).
Why it matters
Before you write 'autism' in an Angelman file, check mental age and genotype. A high ADOS score may reflect global delay, not social deficit. Pair the test with real-world probes: does the child seek adults for tickles or laughter? If yes, teach play and joint attention first, and reserve autism labels for teams that see clear social avoidance.
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Join Free →During the ADOS, add a 2-minute tickle or chase game—if the child lights up and comes back for more, note 'social approach observed' before scoring.
02At a glance
03Original abstract
The aim was to explore the comorbidity between Angelman syndrome and autism spectrum disorders (ASDs). Identification of autism in children with Angelman syndrome presents a diagnostic challenge. In the present study, 16 children with Angelman syndrome, all with a 15q11-13 deletion, were examined for ASDs. Thirteen children with Angelman syndrome received an ADOS-G algorithm classification of ASD; the remaining three were outside the autistic spectrum. Ten fulfilled the criteria for autism, and three for PDD-NOS. The 10 children with Angelman syndrome and comorbid autism were compared with eight children with only autism regarding their social and communicative skills. The results indicated that Angelman syndrome is better understood in terms of developmental delay, and autism in terms of developmental deviance. It is concluded that autism might have been overdiagnosed due to the extremely low mental age of the children with Angelman syndrome.
Autism : the international journal of research and practice, 2004 · doi:10.1177/1362361304042720