The Epidermolysis Bullosa Disease Activity and Scarring Index (EBDASI): grading disease severity and assessing responsiveness to clinical change in epidermolysis bullosa.

BACKGROUND: The lack of validated outcome measures for epidermolysis bullosa (EB) presents major barriers to evaluating disease severity and comparing the efficacy of therapies. The Epidermolysis Bullosa Disease Activity and Scarring Index (EBDASI) was recently introduced as a valid and reliable instrument for EB; however, its interpretation for use in clinical practice and clinical trials is yet to be defined. OBJECTIVE: To assess the interpretability of the EBDASI in classifying patients according to disease severity and clinical response. METHODS: A total of 53 outpatients with EB at two interstate institutions were prospectively evaluated. At each visit, the principal dermatologist completed the EBDASI and global assessments of disease severity and change. Classifications for mild, moderate and severe disease using the EBDASI were determined using receiver operating characteristic curves. Minimal clinically important differences for the EBDASI activity subscale were calculated and compared with the standard error of measurement. RESULTS: Total EBDASI score ranges of 0-42, 43-106 and 107-506 corresponded to mild, moderate and severe disease respectively. Reduction in EBDASI activity scores of greater than 9 indicated clinically significant improvement. An increase of 3 in the activity score indicated deterioration. CONCLUSION: The EBDASI is a responsive tool and may be useful in characterizing disease severity and response. The cut-offs proposed in this study provide the first practical guide for interpreting the EBDASI, further supporting its use for longitudinal patient assessment and in clinical trials.

Cold urticaria: a 20-year follow-up study.

BACKGROUND: Chronic cold urticaria results in significant morbidity, yet information on its natural history is limited. OBJECTIVE: We examined the natural history of chronic cold urticaria and its impact on quality of life. METHODS: We analysed the characteristics of patients diagnosed with cold urticaria at a community-based specialist allergy practice in the Australian Capital Territory (ACT) between 1995 and 2015. Follow-up data were obtained using a mailed questionnaire. Possible predictive factors of disease severity and symptom duration were evaluated. RESULTS: A total of 99 patients were assessed with a median age of 42 (range 5-81 years); 63% were female and the median age of onset of symptoms was 22 years. Of 41 questionnaire responders (14 ± 10.9 years follow-up; median 12 years), 5- and 10-year resolution rates were 17.9% ± 6.2% and 24.5% ± 7.2%, respectively. Whereas 22% reported resolution and 23% described improvement, the remaining 55% reported stable or worsening disease. Most individuals relied on lifestyle modification to ameliorate symptoms rather than medication. Risk factors for persistent disease were intercurrent atopic disease (P = 0.025) and those with longer duration of symptoms at the time of initial assessment (P < 0.001). Secondary causes of cold urticaria were identified in only two patients, both with B-cell malignancy. CONCLUSION: In a subset of patients, cold urticaria has low rates of spontaneous resolution and results in lifestyle changes and impaired quality of life.

Obstructive sleep apnea in children with epilepsy: prospective pilot trial.

BACKGROUND: Obstructive sleep apnea (OSA) is prevalent in adults with epilepsy, especially refractory, but limited data exist in children with epilepsy. AIMS: We conducted a prospective pilot study in children with epilepsy to identify the prevalence of OSA and its relationship to the use of antiepileptic drugs (AEDs) and epilepsy types. METHODS: We used Michigan Pediatric Sleep Questionnaire (PSQ) in children with epilepsy. Patients were classified by seizures frequency as mild (0-1 seizure/month) or severe, refractory epilepsy (> 1 seizures/month). We used PSQ ≥ 0.33 as a cutoff point to assess the risk of OSA. RESULTS: Of 84 children, 52 were classified as mild and 32 as severe. Prevalence of OSA was significantly higher in the severe (43.8%) vs the mild group (30.7%, P < 0.05). Children on >1 AED had significantly higher prevalence of OSA (45.8%) than children on ≤1 AED (30.6%, P < 0.05). There was no significant correlation between the prevalence of OSA and seizure types. CONCLUSIONS: OSA is more prevalent in refractory epilepsy and in children who are on multiple AEDs. While further studies are needed to confirm these findings and to assess the consequences of OSA, we believe it is important to screen the children with epilepsy for OSA.

Early EEG power predicts MRI injury in infants with hypoxic-ischemic encephalopathy.

OBJECTIVE: Early identification of infants with hypoxic-ischemic encephalopathy who have adverse outcomes despite neuroprotection with therapeutic hypothermia (TH) is urgently needed. Recent studies have found limited value of amplitude integrated EEG (aEEG) for predicting short-term outcomes in this population. Other quantitative electroencephalography (EEG) variables reflecting EEG amplitude, such as EEG power, could provide early stratification of a high-risk cohort in this population. The aim of the study was to evaluate and compare early EEG power and aEEG as predictors of magnetic resonance imaging (MRI) injury in neonatal hypoxic-ischemic encephalopathy. STUDY DESIGN: We conducted a retrospective cohort analysis of 78 encephalopathic infants treated with TH between January 2009 and April 2013. About 56 infants had no/mild injury on MRI (group A), whereas 22 had moderate/severe MRI injury (group B). Total EEG power (TEP) and aEEG were obtained soon after initiation of hypothermia and then compared for their ability to predict future MRI injury. RESULTS: TEP, calculated at a mean age of 8.9 h, was significantly higher in infants in group A as compared to group B (71.6±64.8 vs 26.9±65.3, P=0.02). Odds ratios for predicting moderate-severe MRI injury for TEP<10 µV2, TEP<20 µV2, burst Suppression or worse aEEG pattern were 55 (confidence interval (CI) 6.4 to 471), 12.5 (CI 3.8 to 40.7) and 6.7 (CI 2.0 to 19.8), respectively. CONCLUSION: Early TEP is a reliable predictor of moderate-severe MRI injury in encephalopathic infants undergoing TH and may enable early stratification of infants who may benefit from adjuvant therapeutic interventions.

The reliability and validity of outcome measures for atopic dermatitis in patients with pigmented skin: A grey area.

BACKGROUND: Outcome measures for atopic dermatitis (AD) patients with pigmented skin have neither been developed nor validated. OBJECTIVE: To compare the reliability and validity of four common AD outcome measures in patients with various levels of skin darkness. METHOD: The inter- and intra-rater reliability and construct validity of the EASI (Eczema Area and Severity Index), objective-SCORing Atopic Dermatitis (oSCORAD), Three Items Severity index (TIS) and Six Areas, Six Sites Atopic Dermatitis (SASSAD) were evaluated in 18 patients of various levels of skin darkness, using their full body photographs, by five trained clinicians. RESULTS: The inter-rater reliability intraclass coefficient (ICCs) and 95% confidence intervals were poor for highly pigmented patients: EASI -.054(-.200 to .657), oSCORAD -.089(-.206 to .598), TIS -.21(-.24 to .147), SASSAD -.071(-.200 to .631); fair for mildly pigmented patients: EASI .464(.140-.839), oSCORAD .588(.265-.89), TIS.524(.200-.865), SASSAD .41(.045-.775); and fair to good for non-pigmented patients: EASI .64(.330-.908), oSCORAD .586(.263-.889), TIS .403(.09-.809), SASSAD .667(.358-.916). Erythema likely contributed to the inter-rater variability. Construct validity had significant correlations across all measures in non-pigmented patients, but no correlations in highly pigmented patients. CONCLUSION: AD outcome measures have poor reliability and validity in highly pigmented patients, with variations in erythema perception being a contributor.