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2 results

  • 8 - Fragile X syndrome

  • Edited by Patricia Howlin, St George's Hospital Medical School, University of London, Orlee Udwin, Mary Sheridan Centre for Child Health, London
  • Book:
    Outcomes in Neurodevelopmental and Genetic Disorders
    Published online:
    13 August 2009
    Print publication:
    25 July 2002, pp 198-219

  • Summary

    Fragile X syndrome (FXS) causes learning and emotional problems without mental retardation. Clinical involvement in fragile X is generally believed to result from a lack of fragile X mental retardation 1 (FMR1) protein (FMRP). The physical phenotype of FXS is associated with a connective tissue disorder. Medical complications associated with the connective tissue abnormality in FXS include higher incidence of inguinal or umbilical hernia, gastrooesophageal reflux in infancy, an occasional joint dislocation, particularly at the shoulder, elbow or kneecap, and mitral valve prolapse secondary to a floppy mitral valve, which occurs in approximately 50% of adults with fragile X. The sensitivity that children with FXS demonstrate to visual, tactile, auditory and olfactory stimuli is described collectively as sensory integration dysfunction. The use of psychopharmacology, individual therapy in the language and motor area and psychological interventions can be quite helpful for the developmental and behavioural difficulties associated with FXS.

  • Ex juvantibus approach for chronic posterior laryngitis: results of short-term pantoprazole therapy

  • Walter Habermann, Andreas Eherer, Franz Lindbichler, Johann Raith, Gerhard Friedrich
  • Journal:
    The Journal of Laryngology & Otology / Volume 113 / Issue 8 / August 1999
    Published online by Cambridge University Press:
    29 June 2007, pp. 734-739
    Print publication:
    August 1999

  • The aim of this study was to investigate whether patients with chronic posterior laryngitis and symptoms of gastro-pharyngeal reflux benefit from a six-week therapy with pantoprozole. Twenty-nine out-patients with voice disorders (case history of at least two months) and simultaneous symptoms of gastropharyngeal reflux were recruited for this study. At the entry to the study a symptom questionnaire and a videolaryngo/stroboscopy were completed. The symptom questionnaire and the video-laryngo/stroboscopy were repeated after the six weeks of therapy with pantoprazole 40 mg once a day and again six weeks and three months after this follow-up, during which time the patient was without therapy.

    Hoarseness, globus pharyngeus, sore throat, heartburn, and coughing were the symptoms which showed a significant (p<0.05) recovery at the follow-ups (mean of hoarseness index: 7.28 to 0.92; mean of globus pharyngeus index: 3.14 to 0.58; mean of heartburn index: 2.86 to 0.5; mean of cough index: 1.72 to 0.25; mean of throat soreness index: 1.72 to 0.15). Laryngoscopy scores of the posterior laryngeal region, the glottic and the supraglottic region showed statistically significant improvement (p<0.05) after the treatment with pantoprazole. The therapeutic effect exceeded the drug administration until the last follow-up (after three months). The medication was tolerated without side-effects in all patients.

    A primary (ex juvantibus) therapy with proton pump inhibitors seems to be a therapeutic option for patients with long-lasting chronic inflammation of the larynx not responding to common therapy. In this case a six-week course of treatment has been shown to be sufficient.