An International Meeting on Wolf-Hirschhorn Syndrome (WHS)" was held at The University Hospital La Paz in Madrid, Spain (October 13-14, 2017). One hundred and twenty-five people, including physicians, scientists and affected families, attended the meeting. Parent and patient advocates from the Spanish Association of WHS opened the meeting with a panel discussion to set the stage regarding their hopes and expectations for therapeutic advances. In keeping with the theme on therapeutic development, the sessions followed a progression from description of the phenotype and definition of therapeutic endpoints, to definition of genomic changes. These proceedings will review the major points of discussion.4p-, antiepileptic drugs, hepatoadenomas, seizures, WHS

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The development of bowel control is an important activity of daily living in early childhood, and challenges in this area can limit participation in key occupations. Retentive fecal incontinence (RFI) is a common disorder in children. Up to 50% of children do not respond adequately to initial medical intervention, and behaviors around toileting, some related to sensory overresponsivity (SOR), may be partly responsible. Therefore, this study investigated the relationship between RFI and SOR and also examined the discriminative validity of the Toileting Habit Profile Questionnaire (THPQ). Per parent report, children with RFI (n = 16) showed significantly more behaviors related to SOR compared with typically developing children (n = 27). In addition, results indicated that the THPQ effectively discriminates between children with RFI and typically developing children. Results are discussed regarding RFI and SOR, the impact of RFI on childhood occupational engagement, and the role of occupational therapy with this population.

OBJECTIVE. We present the case report of a 3-yr-old boy with retentive fecal incontinence and sensory overresponsivity. Sensory integration theory was used to address the overresponsivity affecting the child's ability to acquire age-appropriate toileting habits. We describe the 7 mo of treatment and 3 mo of follow-up in occupational therapy. METHOD. We analyzed a retrospective chart review of daily defecation log outcome data and parent interview. RESULTS. Notable improvements in acquiring age-appropriate toileting habits were documented and measured using daily defecation logs. Improvements in sensory processing were documented using the Sensory Profile and corroborated improvements in the child's ability to participate in toileting routines and parent report of improved quality of life. CONCLUSION. Occupational therapy using Ayres Sensory Integration(®) was a useful framework for addressing this child's toileting habits. This case explicates occupational therapy using data-driven intervention principles to address the relationship among sensory processing, behavior, and occupational performance.

The Toileting Habit Profile Questionnaire: screening for sensory based toileting difficulties in young children with constipation and retentive fecal incontinence Aims: Bowel management is an activity of daily living about which occupational therapists are often concerned. When problematic, bowel management issues can significantly limit participation in key occupations. Recently research has examined the relationship between sensory issues and bowel management concerns in children, indicating elimination problems occur more frequently in children with sensory processing difficulties than children without such problems. No tools currently provide information on toileting habits from a sensory perspective. This study examined the face and preliminary content validity of the Toileting Habit Profile Questionnaire, a tool designed to screen for sensory-based defecation difficulties in children. Methods: A panel of experts (occupational therapists and gastroenterologists) reviewed a pilot version of the Toileting Habit Profile Questionnaire and responded to specific probe questions. Two reviewers conducted direct content analysis of responses; 100% agreement was reached on coding categories for narrative responses. Results: Overall, experts demonstrated a high degree of agreement on the item content and intended use of the instrument. Input from the panel was useful in improving individual items and establishing this tool for initial research and clinical use.