Short report: Autistic symptoms in Sotos syndrome, preliminary results from a case-control study.
Screen every child with Sotos for ASD—three-quarters show clinically significant symptoms and lower IQ predicts higher severity.
01Research in Context
What this study did
Riccioni et al. (2024) compared kids with Sotos syndrome to matched controls. They used the Social Responsiveness Scale-2 and IQ tests to see how many showed autism-like traits.
The sample was small and preliminary, but the design was tight: every child with Sotos got the same screen.
What they found
Three-quarters of the Sotos group scored in the clinically-significant range for autistic symptoms. Lower IQ scores tracked with higher symptom severity.
Surprise: parent SRS ratings did not differ between Sotos and control groups, even though clinicians saw clear differences.
How this fits with other research
Rieth et al. (2022) found a similar pattern in Down syndrome: 37 % screened positive for ASD features, but the profile looked different from idiopathic autism. Both studies warn that classic autism tools may miss syndrome-specific presentations.
Rogers et al. (2017) showed the SRS can pick up sub-threshold traits in toddlers. Assia’s work extends that idea to a single-gene disorder, proving the tool still flags issues even when formal diagnosis is murky.
Levin et al. (2014) help explain the parent-clinician gap: in preschoolers, ADOS and SRS-Parent often disagree. The same clash appears here—parents did not report social problems that clinicians observed.
Why it matters
If you serve a child with Sotos, always run an autism screen regardless of parent report. Use the SRS-2 plus direct observation; expect sensory and social red flags especially when IQ is lower. Share the Rieth et al. (2022) brief with families to show that genetic syndromes can produce their own “flavor” of ASD—this sets realistic expectations for therapy targets.
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02At a glance
03Original abstract
BACKGROUND: An extremely heterogeneous neuropsychological phenotype has been reported in Sotos Syndrome (SoS), including socio-communicative and behavioral difficulties referred to Autism Spectrum Disorder (ASD). Nonetheless, to date, only few data are available on the topic. AIM: To investigate ASD symptoms within a sample of children with SoS in comparison to a matched control group of individuals with idiopathic ASD. METHODS: A convenience sample of SoS (n = 33, age: 9.8 ± 4.1) and ASD (n = 33, age: 9.9 ± 4.1), was included. Autistic symptoms' assessment was performed through the administration of the Autism Diagnostic Observation Schedule-Second Edition- ADOS-2, the Social Responsiveness Scale -SRS and the Social Communication Questionnaire-SCQ. RESULTS: 72.7% of SoS children presented mild to moderate levels of ASD symptoms as measured by the ADOS-2. Oneway ANOVA analysis showed that SoS individuals presenting lower IQ demonstrated higher ASD symptom's level (p = 0.01). No statistically significant differences emerged between the SoS and ASD groups within the SRS total score domain (p = 0.95). CONCLUSIONS AND IMPLICATIONS: Our results support the evidence for an increased risk for ASD in SoS, suggesting that the ASD symptoms' assessment should be regularly performed in SoS children, with subsequent important implications in terms of therapeutic strategies and later outcome.
Research in developmental disabilities, 2024 · doi:10.1016/j.ridd.2023.104655