Body weight, behaviours of concern, and social contact in adults and adolescents with Prader-Willi syndrome in full-time care services: Findings from pooled international archival data.

BACKGROUND: Prader-Willi syndrome (PWS) is a complex genetic neurodevelopmental condition characterised by a range of debilitating and lifelong symptoms. The many physical and behavioural challenges that arise with adults with PWS often necessitate full-time (i.e., 24-hour) professional care support. However, despite the fact that many clinicians regard full-time PWS-specific care to represent best practice, relatively few studies have directly examined the benefits of such services. The purpose of this paper is to use archival data to investigate the impact of full-time care services on people with PWS, and to assemble a large statistical dataset on which robust analyses of improvements in weight, BMI, and behavioural outcomes can be based. METHODS: Information collated by the International PWS Organisation (IPWSO), an international non-profit membership organisation supporting national PWS associations around the world, was combined into a single anonymised dataset for statistical analysis. Data were supplied by service-providers from several countries who provide full-time support to people with PWS. The dataset included details on the specific services provided, basic demographic information on service recipients, including weight, body mass index (BMI), and observational records relating to behaviours of concern (BOC; consisting of temper outbursts, skin-picking, egocentrism, inflexibility, and striving for dominance). RESULTS: A total of 193 people with PWS (ranging in age from < 10 yrs to > 50 yrs; 93% of whom were > 18 yrs), residing in 11 services across 6 countries, were represented in the dataset. On average, people with PWS showed significant reductions in weight and BMI after joining a full-time care service, with improvements within one year of entering, which were cumulative over time and independent of age or initial weight at entry. Similar cumulative improvements over time were seen for BOC within one year and were unrelated to age or severity of BOC at entry. The degree to which services are specialised for residents with PWS appeared to confer particular benefits, with people living in PWS-exclusive services showing the greatest improvements in weight, BMI, and BOC. Reductions in BOC were associated with greater, rather than less, social contact, suggesting that these improvements were not achieved at the expense of broader freedoms, such as the opportunity to meet with families and friends. CONCLUSIONS: We conclude that full-time care services have a high likelihood of enhancing the lives of people with PWS within one year with long-lasting benefits, especially if those services are exclusive and specialised around the particular needs of PWS.

Streptococcus mitis/oralis Corneal Ulcer in a Patient with Severe Rheumatoid Arthritis: An Unusual Route.

Purpose: To report a case of Streptococcus mitis oralis (S. mitis/oralis) corneal ulcer in a patient with a possible preventable cause. Methods: Cultures were obtained from a 64-year-old woman with a 3.5 mm × 5 mm corneal ulcer with hypopyon in the left eye. Results: Culture reports demonstrated the growth of S. mitis/oralis, a commensal organism of the oral flora. Fortified vancomycin 5% eye drops were started, and the patient was counseled on the rarity of the bacteria as an etiology of corneal ulcers. On the return visit, the patient, who works in a doctor's office, volunteered information that the preservative free artificial tear vials that she used were difficult to open because of her hand deformity due to rheumatoid arthritis; thus, she had to bite the vials open. Conclusions: S. mitis/oralis is an organism commonly found in the mouth but is rarely found in the eye. We report a unique case of an immunocompromised patient with rheumatoid arthritis, severe dry eye, and a history of multiple episodes of keratolysis, who developed a corneal ulcer from a rare pathogen, with a plausible and preventable route of infection.

Scleral ulceration caused by Cryptococcus albidus in a patient with acquired immune deficiency syndrome.

PURPOSE: To describe a case of a scleral ulceration caused by Cryptococcus albidus in a patient with acquired immune deficiency syndrome (AIDS). DESIGN: Interventional case report. A 16-year-old girl with AIDS was admitted to the hospital with a 1-week history of cough, fever, and sudden onset of a painless scleral lesion on her left eye. Culture of the lesion revealed the fungus Crypotococcus albidus. RESULTS: The patient was treated with topical amphotericin B and systemic itraconazole, and she recovered fully over 4 weeks without sequelae. CONCLUSION: Cryptococcus albidus rarely causes disease in humans. It should be considered as a potential cause of ocular and systemic disease in patients with AIDS.

Nocardia asteroides sclerokeratitis in a contact lens wearer.

PURPOSE: To report a case of sclerokeratitis caused by Nocardia asteroides in a soft contact lens wearer. CASE REPORT: A 65-year-old male presented with a 2-month history of a corneal ulcer in the left eye. He wore two weekly disposable soft contact lenses on an extended basis. He revealed his history of gardening before the onset of symptoms. On examination, his best-corrected visual acuity was 20/30 in the right eye and 20/400 in the left eye. In the left eye, there was conjunctival injection. His cornea showed multiple patchy infiltrates, with a feathery border that was raised and involved up to the midstroma. There was a 3+ anterior chamber reaction. Corneal scrapings were performed for smears and cultures. Topical 2% amikacin sulfate every half hour along with oral clarithromycin therapy was initiated. On follow-up, the sclera lesions worsened. RESULTS: Smears of corneal scrapings revealed gram-positive filamentous bacteria in Gram's stain. The cultures grew Nocardia asteroides. The patient was switched to trimethoprim-sulfamethoxazole (Bactrim DS, Roche Laboratories, Nutley, NJ) as the sclera was involved. The patient responded to treatment, and the infection resolved. When last seen, approximately 4 months after his initial presentation to us, his visual acuity was 20/40 in the affected eye. There was corneal scarring, and the adjacent sclera showed thinning. CONCLUSIONS: Nocardia sclerokeratitis can be associated with contact lens wear. Nocardia should be considered in the differential diagnosis of a corneal ulcer with an indolent progressive course with feathery infiltrates. Topical amikacin and systemic trimethoprim-sulfamethoxazole are effective drugs in the treatment of nocardial corneal infection with scleral involvement.