Toileting Dysfunction in SATB2-Associated Syndrome: Results from a Caregiver Survey

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Key Points

The aim is to assess bladder and bowel function in individuals with SATB2-associated syndrome and compare these to typical developmental milestones.
Caregivers completed a survey including the Vancouver Symptom Score (VSS) for Dysfunctional Elimination Syndrome.
VSS scores were analyzed and compared to normative data.
Data collected included toilet training milestones, continence status, urinary tract infections, and bowel treatment history.
53% of individuals with SATB2-associated syndrome were not toilet trained; only 22% were fully trained for both day and night.
The SAS group had a median VSS of 16.0 compared to 5.0 in the control group (p < 0.001).
Notable differences were seen in daytime wetting, nighttime wetting, wetting extent, and fecal soiling.

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Caregiver survey reveals significant toileting difficulties in individuals with SATB2-associated syndrome, suggesting a need for intervention.

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Band et al. (2026) studied this question.

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