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Prospective One-Year Follow-Up of Sensory Processing in Phelan-McDermid Syndrome
Sergio Serrada-Tejeda1, Patricia Sánchez-Herrera-Baeza1, Rosa M Martínez-Piédrola1
1Department of Physical Therapy, Occupational Therapy, Rehabilitation and Physical Medicine, Rey Juan Carlos University, Avenida de Atenas s/n, CP 28922 Alcorcón, Spain.
Background:
Phelan-McDermid syndrome (PMS) is caused by the loss (deletion) of a small portion of chromosome 22 in a region designated q13.3 (22q13.3 deletion). PMS is one of the most common genetic forms of autism spectrum disorder (ASD) in which sensory reactivity difficulties have been described on limited occasions.
Methods:
The objective of this study is to identify whether changes in sensory reactivity skills occur after one year of follow-up in a group of 44 participants diagnosed with PMS. All participants completed the Short Sensory Profile (SSP). Two-factor ANOVA tests were performed with repeated measures for the study of the evolution of the scores.
Results:
Participants with PMS showed significant changes after one year of follow-up in sensory reactivity skills associated with tactile hyperreactivity (p = 0.003). The rest of the study variables did not show significant differences compared to the baseline assessment, showing definite differences associated with patterns of hypo-responsiveness and sensory seeking, low/weak energy, and difficulties in auditory filtering.
Conclusions:
Understanding the evolution of sensory reactivity skills can facilitate the adjustment to behavioral changes in people with PMS and design-targeted interventions to address sensory reactivity challenges.
Insights
Phelan-McDermid syndrome (PMS) is linked to autism spectrum disorder (ASD). One year of follow-up revealed significant changes in tactile hyperreactivity, impacting sensory processing in individuals with PMS.
Area of Science:
- Genetics
- Neurodevelopmental Disorders
- Sensory Processing
Background:
- Phelan-McDermid syndrome (PMS) results from a 22q13.3 deletion on chromosome 22.
- PMS is a common genetic cause of autism spectrum disorder (ASD).
- Sensory reactivity difficulties are occasionally noted in individuals with PMS.
Purpose of the Study:
- To investigate changes in sensory reactivity skills over one year in individuals with PMS.
- To assess the longitudinal evolution of sensory processing in a cohort of 44 PMS participants.
Main Methods:
- Utilized the Short Sensory Profile (SSP) to evaluate sensory reactivity.
- Employed two-factor ANOVA with repeated measures to analyze score changes.
- Compared baseline sensory reactivity scores with those after a one-year follow-up.
Main Results:
- Significant changes in tactile hyperreactivity were observed after one year (p = 0.003).
- Other sensory reactivity variables, including hypo-responsiveness and sensory seeking, did not show significant changes.
- Difficulties in auditory filtering and low/weak energy levels were noted.
Conclusions:
- Understanding the progression of sensory reactivity is crucial for managing behavioral adjustments in PMS.
- Targeted interventions can be developed to address specific sensory reactivity challenges in individuals with PMS.
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