Sensory experiences questionnaire unravels differences in sensory profiles between MECP2-related disorders.
Bernhard Suter, Davut Pehlivan, Muharrem Ak and 2 others
PMID 38433353WHAT IT FOUND
Children with MECP2 duplication show significantly higher sensory hypersensitivity and seeking than those with Rett syndrome, especially in tactile and vestibular areas.
Both groups score above typical ranges, but Rett scores are more homogeneous and closer to typical levels.
Key findings
01Total sensory scores were atypical for both groups, but MECP2 duplication patients were significantly more impacted than Rett syndrome patients.
02The difference was driven by higher hypersensitivity and sensory seeking in MECP2 duplication, not hyposensitivity, affecting both social and nonsocial stimuli.
03MECP2 duplication patients showed greater symptoms in tactile and vestibular processing compared to Rett syndrome patients, with no difference in auditory, visual, or gustatory/olfactory domains.
STILL TO COME
How it was doneWhat they foundWhat it means for PTsWhat it means for OTsWhat it means for SLPs
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What it does not show
Reliance on caregiver report, which is less sensitive than quantitative measurements of sensory ability. The SEQ was used outside its validated age range (2-12 years) due to the developmental levels of participants, though chronological age was higher. Cross-sectional design means symptoms changing over time or regression status could influence results, especially in younger RTT participants who may not have fully regressed. Group differences in sex (all RTT female, almost all MDS male) could confound sensory scores, though recent meta-analyses suggest no significant sex differences in autism sensory experiences. Participants were mostly from North America and Europe, limiting cultural generalizability.
Declared interests
Dr. Suter received consulting fees from Ionis Pharmaceuticals, Neurogene, Acadia, and Taysha, and acted as an investigator for clinical trials with Neurogene, Acadia, Marinus, and Newron. Dr. P. is a consultant for Ionis Pharmaceuticals. All remuneration was paid to Baylor College of Medicine. Other authors declared no conflicts.
The easy way to misread this
Do not interpret the higher sensory scores in MDS as evidence that MECP2 duplication causes worse sensory outcomes than Rett syndrome in a general sense. The groups differed in age, sex, and diagnosis-specific features, and the study used caregiver report rather than objective sensory testing, so direct causal attribution to gene dosage alone is not supported by this single cross-sectional survey.