Diagnostic delay is common in spinal muscular atrophy. The length of delay varied by severity (type) of spinal muscular atrophy. Further studies evaluating this delay and tools such as newborn screening are warranted to end the diagnostic delay in spinal muscular atrophy.

Cutaneous lupus erythematosus (CLE) is a chronic dermatological autoimmune disease marked by photosensitive lesions that can lead to hyperpigmentation changes, scarring and hair loss. Health-related quality of life (HRQoL) in patients with CLE is severely impaired. Given the heterogeneous nature of CLE, health perceptions of patients can differ significantly from those of clinicians. It is important to use subjective measures, such as patient-reported outcomes (PROs), to capture HRQoL data in patients with CLE. We conducted a systematic review of published PRO instruments used in measuring HRQoL in patients with CLE. Also, we examined the disease burden on HRQoL in patients with CLE. To identify studies, PubMed/MEDLINE, Web of Science and CINAHL were searched using 'CLE/cutaneous lupus erythematosus' in combination with PRO-related keywords such as 'quality of life', 'self-report' and 'instrument'. English-language articles published between 2003 and 2014 were identified. A total of 482 citations were identified in the initial search. Eleven studies met our inclusion criteria, and five PRO instruments were found to be used: Skindex (versions 16 and 29), Dermatology Life Quality Index, 36-Item Short-Form Health Survey, and visual analogue scales for pain and pruritus. Patients with CLE reported having poor quality of life and experienced symptoms ranging from pain, pruritus and fatigue to photosensitivity. There is a limited number of studies examining PRO in patients with CLE. While our findings suggest that quality of life in patients with CLE is poor, further studies are needed to understand better the impact of CLE from patients' perspectives.

A301vs. 62%) and have rheumatoid arthritis (62% vs. 43%), 1 or 2 comorbidities (70% vs. 42%), poorer health status (mean GSRH score, 46 vs 55), on long-term disability (13% vs. 2%), and discussed more biologic treatment options (mean number, 3 vs 2) than non-SDM respondents. Non-SDM respondents were more likely to have psoriasis (25% vs. 8%) and no comorbidities (48% vs. 23%) than SDM respondents (p< 0.05 for all comparisons). CONCLUSIONS: The preliminary results suggest that patients who participate in SDM for biologic therapy initiation differ clinically and demographically in comparison to those who do not, however these findings need to be confirmed in the final study data.

A301vs. 62%) and have rheumatoid arthritis (62% vs. 43%), 1 or 2 comorbidities (70% vs. 42%), poorer health status (mean GSRH score, 46 vs 55), on long-term disability (13% vs. 2%), and discussed more biologic treatment options (mean number, 3 vs 2) than non-SDM respondents. Non-SDM respondents were more likely to have psoriasis (25% vs. 8%) and no comorbidities (48% vs. 23%) than SDM respondents (p< 0.05 for all comparisons). CONCLUSIONS: The preliminary results suggest that patients who participate in SDM for biologic therapy initiation differ clinically and demographically in comparison to those who do not, however these findings need to be confirmed in the final study data.