Enzyme replacement therapy in pediatric patients with Gaucher disease: what should we use as maintenance dosage?

INTRODUCTION: No consensus exists on the minimal dose of enzyme replacement therapy (ERT) effective to maintain therapeutic goals in pediatric Gaucher patients. OBJECTIVE: Evaluate the efficacy of low dosage ERT to maintain treatment goals. RESULTS: Six patients had a maintenance dose of 30-35U/kg/month. All patients, with the exception of one L444P/L444P homozygote, maintained therapeutic goals. DISCUSSION: A low maintenance dose may be adequate in most pediatric patients. L444P homozygotes may require a higher maintenance dosage.

Deflazacort use in Duchenne muscular dystrophy: an 8-year follow-up.

Data reported here were collected over an 8-year period for 79 Duchenne muscular dystrophy patients, 37 of whom were treated with deflazacort. Mean length of treatment was 66 months. Treated boys stopped walking at 11.5 +/- 1.9 years, compared with 9.6 +/- 1.4 years for untreated boys. Cardiac function was better preserved with the use of deflazacort, as shown by a normal shortening fraction in treated (30.8 +/- 4.5%) vs untreated boys (26.6 +/- 5.7%, P < 0.05), a higher ejection fraction (52.9 +/- 6.3% treated vs 46 +/- 10% untreated), and lower frequency of dilated cardiomyopathy (32% treated vs 58% untreated). Scoliosis was much less severe in treated (14 +/- 2.5 degrees ) than in untreated boys (46 +/- 24 degrees ). No spinal surgery was necessary in treated boys. Limb fractures were similarly frequent in treated (24%) and untreated (26%) boys, but vertebral fractures occurred only in the treated group (7/37) (compared with zero for the untreated group). In both groups, body weight excess tripled between the ages of 8 and 12 years. All untreated patients grew normally (>4 cm/year), as opposed to only 15% of treated boys. Deflazacort improves cardiac function, prolongs walking, and seems to eliminate the need for spinal surgery, although vertebral fractures and stunted growth occur. The overall impact on quality of life appears positive.

Effects of compressive vests on pulmonary function of infants with thoracic burn scars.

OBJECTIVE: To prospectively evaluate the effects of compressive vests on the pulmonary function of infants with thoracic burn scars. METHODS: Between April 2000 and October 2005, all infants aged 2 years or less and all those aged between 2 and 3 years if they had concomitant pulmonary pathology, who were in need of a compressive vest for the treatment of burn scars to the thorax, underwent comparative pulmonary function testing under sedation with the vest closed and then opened. RESULTS: Of the 23 infants who met the inclusion criteria, 19 had complete data. There were significant differences in oxygen saturation, respiratory rate, tidal volume/kg body weight, respiratory compliance and peak tidal expiratory flow /tidal volume, with or without vest compression. CONCLUSIONS: Compressive vests used at our centre to treat thoracic burn scars of infants aged 2 years or less, and those aged between 2 and 3 years with concomitant pulmonary pathology, did have a statistically significant effect on their pulmonary function, but this did not translate into clinically significant differences. However, the differences observed might become clinically significant in the presence of pulmonary comorbidity or severe burns. Routine pulmonary function testing before the use of vest compression might thus benefit these infants.

Feeding management of children with severe cerebral palsy and eating impairment: an exploratory study.

Some children with cerebral palsy and severe feeding impairment experience pulmonary complications from aspiration and gastroesophageal reflux. This exploratory study examined whether pulmonary function would improve following one year of intervention with optimal positioning for feeding, control of gastroesophageal reflux and use of food textures that would minimize aspiration from swallowing. Two children showed a 28% and 45% improvement, respectively, in functional residual capacity. One child experienced a 37% improvement in total respiratory resistance and a 284% improvement in respiratory compliance. All children gained sufficient weight to maintain their growth trajectories but only one who was changed from oral to tube feeding due to aspiration showed catch-up growth in length. One child showed pathological gastroesophageal reflux that was controlled medically throughout the study period. Although all children experienced pulmonary illnesses during the one year of follow up, control of aspiration permitted a clinically significant improvement of their pulmonary obstructive syndrome Further study is needed to more fully determine the effect of this treatment approach on pulmonary function.