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  • Osteopathic Manipulative Tr...
    Aquino, Alessandro; Perini, Mattia; Cosmai, Silvia; Zanon, Silvia; Pisa, Viviana; Castagna, Carmine; Uberti, Stefano

    Case reports in pediatrics, 01/2017, Letnik: 2017
    Journal Article

    Pitt-Hopkins Syndrome (PTHS) is a rare genetic disorder caused by insufficient expression of the TCF4 gene. Children with PTHS typically present with gastrointestinal disorders and early severe chronic constipation is frequently found (75%). Here we describe the case of a PTHS male 10-year-old patient with chronic constipation in whom Osteopathic Manipulative Treatment (OMT) resulted in improved bowel functions, as assessed by the diary, the QPGS-Form A Section C questionnaire, and the Paediatric Bristol Stool Form Scale. The authors suggested that OMT may be a valid tool to improve the defecation frequency and reduce enema administration in PTHS patients.