ABSTRACT
Respiratory outcomes in Mucopolysaccharidosis Type I (MPS I), have mainly focused on upper airway obstruction, with the evolution of the restrictive lung disease being poorly documented. We report the long-term pulmonary function outcomes and examine the potential factors affecting these in 2 cohorts of MPS I patients, those who have undergone Haematopoietic Stem Cell Transplantation (HSCT) and those treated with Enzyme Replacement Therapy (ERT). The results were stratified using the American Thoracic Society (ATS) guidelines. 66 patients, capable of adequately performing testing, were identified by a retrospective case note review, 46 transplanted (45 Hurler, 1 Non-Hurler) and 20 having ERT (17 Non-Hurler and 3 Hurler diagnosed too late for HSCT). 5 patients died; 4 in the ERT group including the 3 Hurler patients. Overall 14% of patients required respiratory support (non-invasive ventilation (NIV) or supplemental oxygen)) at the end of follow up. Median length of follow-up was 12.2 (range = 4.9-32) years post HSCT and 14.34 (range = 3.89-20.4) years on ERT. All patients had restrictive lung disease. Cobb angle and male sex were significantly associated with more severe outcomes in the HSCT cohort, with 49% having severe to very severe disease. In the 17 Non-Hurler ERT treated patients there was no variable predictive of severity of disease with 59% having severe to very severe disease. During the course of follow up 67% of the HSCT cohort had no change or improved pulmonary function as did 52% of the ERT patients. However, direct comparison between therapeutic modalities was not possible. This initial evidence would suggest that a degree of restrictive lung disease is present in all treated paediatrically diagnosed MPS I and is still a significant cause of morbidity, though further stratification incorporating diffusing capacity for carbon monoxide (DLCO) is needed.
Subject(s)
Airway Obstruction/therapy , Lung Diseases, Obstructive/therapy , Mucopolysaccharidosis I/therapy , Adolescent , Adult , Age of Onset , Aged , Aged, 80 and over , Airway Obstruction/complications , Airway Obstruction/epidemiology , Airway Obstruction/pathology , Carbon Monoxide/metabolism , Child , Child, Preschool , Enzyme Replacement Therapy , Female , Hematopoietic Stem Cell Transplantation/adverse effects , Humans , Infant , Lung Diseases, Obstructive/complications , Lung Diseases, Obstructive/epidemiology , Lung Diseases, Obstructive/pathology , Male , Middle Aged , Mucopolysaccharidosis I/complications , Mucopolysaccharidosis I/epidemiology , Mucopolysaccharidosis I/pathology , Young AdultABSTRACT
BACKGROUND: The Global Burden of Disease reports indicate that musculoskeletal conditions are important causes of disability worldwide. Such conditions may originate in childhood, but studies investigating changes longitudinally and from childhood to adulthood are infrequent. METHODS: Nine birth cohorts of children (starting at ages 7-15 years) were followed. Participants were identified from Consultations in Primary Care Archive, an electronic health record database of 11 English general practices. Musculoskeletal consultation prevalence figures were calculated, and reasons for consultation evaluated. RESULTS: Annual musculoskeletal consultation prevalence was similar across cohorts for each age. Prevalence increased from 6 to 16% between ages 7 and 22 and was higher in males until age 15, after which prevalence was higher in females. Pain was the most common reason for consultation. Back pain consultations increased from 1 consultation/1000 7 year olds to 84 consultations/1000 22 year olds. Lower limb pain consultations increased from 21 consultations/1000 7 year olds to 56 consultations/1000 22 year olds. CONCLUSIONS: This study shows that from childhood, individuals are more likely to seek healthcare for musculoskeletal consultations as they age, but rates are not increasing over time. Changes in consultation rates by age, gender and pain region may inform studies on the development of chronic musculoskeletal pain over the life-course.
Subject(s)
General Practice , Musculoskeletal Diseases , Referral and Consultation , Adolescent , Adult , Child , Female , Humans , Longitudinal Studies , Male , Prevalence , Primary Health Care , Young AdultABSTRACT
Habit cough is a chronic, persistent dry cough which occurs in children only when awake. It is considered functional (non-organic) and can have a significant impact on the quality of life of the child and their family. One possible treatment option for habit cough is hypnotherapy. At our centre we offered hypnotherapy sessions to patients diagnosed with habit cough, and conducted telephone interviews with patients' parents to determine the acceptability of this therapy. Nine patients' parents were interviewed, and despite being unsure of what to expect with hypnotherapy, all nine found it an acceptable treatment option. Parents reported that hypnotherapy appeared to result in cough reduction or cessation in 6 out of 9 cases.
