Medication prescribing and patient-reported outcome measures in people with epilepsy in Bhutan.

OBJECTIVE: The aim of this study was to assess medication prescribing and patient-reported outcomes among people with epilepsy (PWE) in Bhutan and introduce criteria for evaluating unmet epilepsy care needs, particularly in resource-limited settings. METHODS: People with epilepsy in Bhutan (National Referral Hospital, 2014-2015) completed a questionnaire, the Quality of Life in Epilepsy Inventory (QOLIE-31), and an electroencephalogram (EEG). Management gap was the proportion of participants meeting any of six prespecified criteria based on best practices and the National Institute for Health and Care Excellence (NICE) guidelines. RESULTS: Among 253 participants (53% female, median: 24years), 93% (n=235) were treated with antiepileptic drugs (AEDs). Seventy-two percent (n=183) had active epilepsy (≥1 seizure in the prior year). At least one criterion was met by 55% (n=138) of participants, whereas the treatment gap encompassed only 5% (n=13). The criteria were the following: 1. Among 18 participants taking no AED, 72% (n=13) had active epilepsy. 2. Among 26 adults on subtherapeutic monotherapy, 46% (n=12) had active epilepsy. 3. Among 48 participants reporting staring spells, 56% (n=27) were treated with carbamazepine or phenytoin. 4. Among 101 female participants aged 14-40years, 23% (n=23) were treated with sodium valproate. 5. Among 67 participants reporting seizure-related injuries, 87% (n=58) had active epilepsy. 6. Among 111 participants with a QOLIE-31 score below 50/100, 77% (n=86) had active epilepsy. Years since first AED treatment (odds ratio: 1.07, 95% CI: 1.03, 1.12) and epileptiform discharges on EEG (odds ratio: 1.95, 95% CI: 1.15, 3.29) were significantly associated with more criteria met. CONCLUSIONS: By defining the management gap, subpopulations at greatest need for targeted interventions may be prioritized, including those already taking AEDs.

Smartphone EEG and remote online interpretation for children with epilepsy in the Republic of Guinea: Quality, characteristics, and practice implications.

PURPOSE: Children with epilepsy in low-income countries often go undiagnosed and untreated. We examine a portable, low-cost smartphone-based EEG technology in a heterogeneous pediatric epilepsy cohort in the West African Republic of Guinea. METHODS: Children with epilepsy were recruited at the Ignace Deen Hospital in Conakry, 2017. Participants underwent sequential EEG recordings with an app-based EEG, the Smartphone Brain Scanner-2 (SBS2) and a standard Xltek EEG. Raw EEG data were transmitted via Bluetooth™ connection to an Android™ tablet and uploaded for remote EEG specialist review and reporting via a new, secure web-based reading platform, crowdEEG. The results were compared to same-visit Xltek 10-20 EEG recordings for identification of epileptiform and non-epileptiform abnormalities. RESULTS: 97 children meeting the International League Against Epilepsy's definition of epilepsy (49 male; mean age 10.3 years, 29 untreated with an antiepileptic drug; 0 with a prior EEG) were enrolled. Epileptiform discharges were detected on 21 (25.3%) SBS2 and 31 (37.3%) standard EEG recordings. The SBS2 had a sensitivity of 51.6% (95%CI 32.4%, 70.8%) and a specificity of 90.4% (95%CI 81.4%, 94.4%) for all types of epileptiform discharges, with positive and negative predictive values of 76.2% and 75.8% respectively. For generalized discharges, the SBS2 had a sensitivity of 43.5% with a specificity of 96.2%. CONCLUSIONS: The SBS2 has a moderate sensitivity and high specificity for the detection of epileptiform abnormalities in children with epilepsy in this low-income setting. Use of the SBS2+crowdEEG platform permits specialist input for patients with previously poor access to clinical neurophysiology expertise.

Validation of a smartphone-based EEG among people with epilepsy: A prospective study.

Our objective was to assess the ability of a smartphone-based electroencephalography (EEG) application, the Smartphone Brain Scanner-2 (SBS2), to detect epileptiform abnormalities compared to standard clinical EEG. The SBS2 system consists of an Android tablet wirelessly connected to a 14-electrode EasyCap headset (cost ~ 300 USD). SBS2 and standard EEG were performed in people with suspected epilepsy in Bhutan (2014-2015), and recordings were interpreted by neurologists. Among 205 participants (54% female, median age 24 years), epileptiform discharges were detected on 14% of SBS2 and 25% of standard EEGs. The SBS2 had 39.2% sensitivity (95% confidence interval (CI) 25.8%, 53.9%) and 94.8% specificity (95% CI 90.0%, 97.7%) for epileptiform discharges with positive and negative predictive values of 0.71 (95% CI 0.51, 0.87) and 0.82 (95% CI 0.76, 0.89) respectively. 31% of focal and 82% of generalized abnormalities were identified on SBS2 recordings. Cohen's kappa (κ) for the SBS2 EEG and standard EEG for the epileptiform versus non-epileptiform outcome was κ = 0.40 (95% CI 0.25, 0.55). No safety or tolerability concerns were reported. Despite limitations in sensitivity, the SBS2 may become a viable supportive test for the capture of epileptiform abnormalities, and extend EEG access to new, especially resource-limited, populations at a reduced cost.

Outcome of perinatal hypophosphatasia in manitoba mennonites: a retrospective cohort analysis.

Hypophosphatasia (HPP) is the metabolic bone disease caused by loss-of-function mutation within the gene that encodes the "tissue nonspecific" isoenzyme of alkaline phosphatase (TNSALP). Perinatal HPP is usually fatal due to respiratory insufficiency, and infantile HPP often has a similar outcome although no formal study into the natural history of these severe forms of HPP has been undertaken. We reviewed our 80-year (1927-2007) cohort of 15 Canadian patients with perinatal HPP. All had Mennonite heritage. Family linkage studies indicated that nine were homozygous for a TNSALP disease allele, likely Gly334Asp. Three patients had parents who were carriers for the Gly334Asp allele by mutation analysis. One patient was confirmed by mutation analysis to be homozygous for the TNSALP Gly334Asp mutation. One patient who had only one Mennonite parent was a genetic compound for the Gly334Asp mutation and the Val382Ile mutation. This patient's sibling was also affected. All 15 patients had profound skeletal hypomineralization, severe rickets, and respiratory insufficiency. All died by 9 months of age, usually soon after birth, from pulmonary failure.