Publications

The mucopolysaccharidoses (MPS) are a common cause of carpal tunnel syndrome (CTS) in children and adolescents. As the MPS diseases are progressive in nature, it is essential that CTS in these children is readily diagnosed and treated, before damage to the median nerve becomes irreversible. Currently, no standards for diagnosing and treating CTS associated with MPS exist. Proper diagnosis of CTS generally involves the assessment of clinical signs and symptoms, in combination with nerve conduction studies. As the clinical signs and symptoms of CTS described for adults are often absent in children with MPS, early diagnosis of CTS in these children requires recognition of subtle findings such as decreased sweating, nocturnal waking, gnawing of hands, and manual clumsiness. Sensory tests could also be useful for detecting early CTS when the integrity of the nerve is still relatively intact. Nerve conduction velocities, which are the gold standard for diagnosing CTS, can be difficult to perform in patients with MPS and should be adapted to the patients' clinical characteristics such as their abnormally small hands and young age. Ongoing monitoring for CTS is indicated for all MPS patients, including those treated with hematopoietic stem cell transplantation or enzyme replacement therapy.

Enzyme replacement therapy has been successful in alleviating morbidity and improving endurance in Mucopolysaccharidosis (MPS) type I, II, and VI, however little attention has been paid to the effects on bone mineralization. Brief case reports in MPS type III and IV suggest that bone mineral density (BMD) is diminished, but did not account for patient size. In this report, BMD was evaluated by quantitative computed tomography and by dual-energy x-ray absorptiometry (DXA) in separate studies involving 10 patients with MPS type VI (7 Female; 7.0 to 21.0 y) and 4 male patients with MPS II (8.1 to 35.5 y). Vitamin D intake met the current RDA (200 IU) for most, though 25-OH vitamin D was insufficient (< 30 ng/mL) in 87.5% of patients tested. Ht Z-score was low -5.8 +/- 3.6, with height deficits greatest in MPS VI. Spine and whole body BMD Z-scores by DXA were considered normal for chronological age in all MPS II, and after correction for Ht Z-score, in all but one subject with MPS VI. These results suggest that vitamin D insufficiency is quite common in MPS. BMD by DXA is within normal range for most, particularly after correction for short stature. A review of bone health assessment is provided as well as a discussion of these results.

OBJECTIVE

To assess physicians' attitudes toward health information exchange (HIE) and physicians' willingness to pay to participate in HIE.

DESIGN

We conducted a cross-sectional mail survey of 1296 licensed physicians (77% response rate) in Massachusetts in 2007.

MEASUREMENTS

Perceptions of the potential effects of HIE on healthcare costs, quality of care, clinicians' time, patients' privacy concerns, and willingness to pay for HIE.

RESULTS

After excluding 253 physicians who did not see any outpatients, we analyzed 1043 responses. Overall, 70% indicated that HIE would reduce costs, while 86% said it would improve quality and 76% believed that it would save time. On the other hand, 16% reported being very concerned about HIE's effect on privacy, while 55.0% were somewhat concerned and 29% not at all concerned. Slightly more than half of the physicians (54%) said they would be willing to pay an unspecified monthly fee to participate in HIE, but only 37% said they would be willing to pay $150 per month for it. Primary care physicians and those in larger practices tended to have more positive attitudes toward HIE.

CONCLUSIONS

Physicians perceive that HIE will have generally positive effects, though a considerable fraction harbor concerns about privacy. While physicians may be willing to participate in HIE, they are not consistently willing to pay to participate. HIE business models that require substantial physician subscription fees may face significant challenges.