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OBJECTIVES: There is a paucity of studies reporting the epilepsy spectrum using the 2017 and 2022 ILAE classification systems in everyday clinical practice. To identify gaps and opportunities in care we evaluated a hospital-based cohort applying these epilepsy classification systems, including aetiology and co-morbidity, and the utility of molecular genetic diagnosis to identify available precision therapies. METHODS: Cross sectional retrospective study of all children with epilepsy (≤16 years) attending University Hospital Galway (2017-2022). Data collection and analysis of each case was standardised to ensure a systematic approach and application of the recent ILAE categorisation and terminology (2017 and 2022). Ethics approval was obtained. RESULTS: Among 356 children, epilepsy was classified as focal (46.1 %), generalised (38.8 %), combined (6.2 %), and unknown (9 %). Epilepsy syndrome was determined in 145/356 (40.7 %), comprising 24 different syndromes, most commonly SeLECTS (9 %), CAE (7 %), JAE (6.2 %) and IESS (5.9 %). New aetiology-specific syndromes were identified (e.g. CDKL5-DEE). Molecular diagnosis was confirmed in 19.9 % (n = 71) which encompassed monogenic (13.8 %) and chromosomopathy/CNV (6.2 %). There was an additional 35.7 % (n = 127) of patients who had a presumed genetic aetiology of epilepsy. Remaining aetiology included structural (18.8 %, n = 67), infectious (2 %, n = 7), metabolic (1.7 %, n = 6) and unknown (30.3 %, n = 108). Encephalopathy categorisation was determined in 182 patients (DE in 38.8 %; DEE in a further 11.8 %) associated with a range of co-morbidities categorised as global delay (29.2 %, n = 104), severe neurological impairment (16.3 %, n = 58), and ASD (14.6 %, n = 52). Molecular-based "precision therapy" was deemed available in 21/356 (5.9 %) patients, with "molecular precision" approach utilised in 13/356 (3.7 %), and some benefit noted in 6/356 (1.7 %) of overall cohort or 6/71 (8.5 %) of the molecular cohort. CONCLUSION: Applying the latest ILAE epilepsy classification systems allow comparison across settings and identifies a major neuro-developmental co-morbidity rate and a large genetic aetiology. We identified very few meaningful molecular-based disease modifying "precision therapies". There is a monumental gap between aetiological identification, and impact of meaningful therapies, thus the new 2017/2022 classification clearly identifies the major challenges in the provision of routine epilepsy care.
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AIM: To describe the population of young people in Ireland diagnosed with narcolepsy with regards to vaccine exposure, symptomatology, investigation results and experience of medical treatment. METHOD: Retrospective review of medical records at the single tertiary referral centre for young people with narcolepsy in Ireland. RESULTS: Sixty-seven patients were diagnosed with narcolepsy between July 2006 and July 2017. Sixty-one (91%) of these developed symptoms after receiving the Pandemrix vaccine. The population was largely homogeneous with low hypocretin (87.5%), HLA DQB1∗0602 positivity (95%) and unremarkable findings on MRI Brain (100%). 77.6% experienced cataplexy; we also measured high levels of obesity, school non-attendance and psychosocial complexity. Symptoms often continued despite treatment, with multiple medications prescribed in 76.1% of patients. Prescription of sodium oxybate was associated with a significant reduction in BMI standard deviation scores at 6 months, with improved IOTF obesity scores seen at 36 month follow-up. CONCLUSIONS: This paper describes the experience of narcolepsy in children and young people in Ireland from 2006 - 2017 at the national tertiary referral centre. Narcolepsy in children and young people in Ireland carries a significant burden of illness, with impact on participation in education as well as physical and mental health. Symptoms can be refractory to medical treatment. Referral to tertiary centres for prompt treatment and multidisciplinary input is essential.
