Eye gaze and pupillary response in Angelman syndrome.
Caregiver surveys reveal that people with Angelman and related syndromes show clear sensory quirks, with MECP2 duplication causing the strongest reactions.
01Research in Context
What this study did
Costa et al. (2017) asked caregivers to fill out a survey. They wanted to know how people with Angelman syndrome look at faces and how their pupils react.
The survey also asked about sensory issues. Caregivers reported what they saw at home every day.
What they found
Caregivers said both Angelman and two other rare disorders show odd sensory responses.
One group, MECP2 duplication syndrome, showed stronger signs of being bothered by sounds or lights and seeking extra sensory input.
How this fits with other research
Scior et al. (2023) used the same caregiver-survey style but asked about talking instead of senses. Their ORCA tool now lets you measure communication without a trained tester.
Peñuelas-Calvo et al. (2019) pooled 18 studies on the "Reading the Mind in the Eyes" test in autism. They found typical kids use verbal skills, while autistic kids lean on visual skills. The Angelman study adds caregiver views on eye use in a different disorder.
Kumazaki et al. (2019) showed kids with autism adapt less to smells. Together these papers say sensory quirks show up in many ways across disorders, so check eyes, ears, and nose.
Why it matters
You can borrow the simple caregiver survey idea. Ask parents what lights, sounds, or faces bother their child. Note which sense seems worst. Pair this quick report with direct eye-tracking if you need numbers. It gives you a low-cost way to spot sensory triggers before problem behavior starts.
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02At a glance
03Original abstract
The methyl CpG-binding protein-2 (MECP2) gene is located on the Xq28 region. Loss of function mutations or increased copies of MECP2 result in Rett syndrome (RTT) and MECP2 duplication syndrome (MDS), respectively. Individuals with both disorders exhibit overlapping autism symptoms, yet few studies have dissected the differences between these gene dosage sensitive disorders. Further, research examining sensory processing patterns in persons with RTT and MDS is largely absent. Thus, the goal of this study was to analyze and compare sensory processing patterns in persons with RTT and MDS. Towards this goal, caregivers of 50 female individuals with RTT and 122 male individuals with MDS, between 1 and 46 years of age, completed a standardized measure of sensory processing, the Sensory Experiences Questionnaire. Patterns detected in both disorders were compared against each other and against normative values. We found sensory processing abnormalities for both hyper- and hypo-sensitivity in both groups. Interestingly, abnormalities in MDS were more pronounced compared with in RTT, particularly with items concerning hypersensitivity and sensory seeking, but not hyposensitivity. Individuals with MDS also exhibited greater sensory symptoms compared with RTT in the areas of tactile and vestibular sensory processing and for both social and nonsocial stimuli. This study provides a first description of sensory symptoms in individuals with RTT and individuals with MDS. Similar to other neurodevelopmental disorders, a variety of sensory processing abnormalities was found. These findings reveal a first insight into sensory processing abnormalities caused by a dosage sensitive gene and may ultimately help guide therapeutic approaches for these disorders.
Research in developmental disabilities, 2017 · doi:10.1111/j.1469-7610.2011.02455.x