Juvenile myoclonic epilepsy (JME) is a common idiopathic generalised epilepsy with variable seizure prognosis and sex differences in disease presentation. Here, we investigate the combined epidemiology of sex, seizure types and precipitants, and their influence on prognosis in JME, through cross-sectional data collected by The Biology of Juvenile Myoclonic Epilepsy (BIOJUME) consortium. 765 individuals met strict inclusion criteria for JME (female:male, 1.8:1). 59% of females and 50% of males reported triggered seizures, and in females only, this was associated with experiencing absence seizures (OR = 2.0, p < 0.001). Absence seizures significantly predicted drug resistance in both males (OR = 3.0, p = 0.001) and females (OR = 3.0, p < 0.001) in univariate analysis. In multivariable analysis in females, catamenial seizures (OR = 14.7, p = 0.001), absence seizures (OR = 6.0, p < 0.001) and stress-precipitated seizures (OR = 5.3, p = 0.02) were associated with drug resistance, while a photoparoxysmal response predicted seizure freedom (OR = 0.47, p = 0.03). Females with both absence seizures and stress-related precipitants constitute the prognostic subgroup in JME with the highest prevalence of drug resistance (49%) compared to females with neither (15%) and males (29%), highlighting the unmet need for effective, targeted interventions for this subgroup. We propose a new prognostic stratification for JME and suggest a role for circuit-based risk of seizure control as an avenue for further investigation.
ObjectiveImpulsivity is a multidimensional construct that can predispose to psychopathology. Meta‐analysis demonstrates an association between response impulsivity and Juvenile Myoclonic Epilepsy (JME), a common genetic generalized epilepsy. Here, we test the hypotheses that trait impulsivity is (i) elevated in JME compared to controls; (ii) moderated by specific seizure characteristics; and (iii) associated with psychiatric adverse effects of antiepileptic drugs (AEDs).Methods322 participants with JME and 126 age and gender‐matched controls completed the Barratt’s Impulsiveness Scale (BIS‐brief) alongside information on seizure history and AED use. We compared group BIS‐brief scores and assessed associations of JME BIS‐brief scores with seizure characteristics and AED adverse effects.ResultsThe mean BIS‐brief score in JME was 18.1 ± 4.4 compared with 16.2 ± 4.1 in controls (P = 0.0007). Elevated impulsivity was associated with male gender (P = 0.027), frequent absence seizures (P = 0.0004) and lack of morning predominance of myoclonus (P = 0.008). High impulsivity significantly increased the odds of a psychiatric adverse event on levetiracetam (P = 0.036), but not any other psychiatric or somatic adverse effects.InterpretationTrait impulsivity is elevated in JME and comparable to scores in personality and neurotic disorders. Increased seizure frequency and absence of circadian seizure pattern moderate BIS score, suggesting disruption of both cortico‐striatal and thalamocortical networks as a shared mechanism between seizures and impulsivity in JME. These findings warrant consideration of impulsivity as a distinct target of intervention, and as a stratifying factor for AED treatment in JME, and perhaps other types of epilepsy. The role of impulsivity in treatment adherence and psychosocial outcome requires further investigation.
Dynamic mobilisation exercises (DME) are often used as part of a physiotherapy rehabilitation programme. Whilst immediate kinematic effects have been measured, the change in posture is anecdotally reported to have a longer duration. This study aimed to test the reliability of a simple objective measurement method, suitable for use in clinical practice, and to objectively measure equine thoracolumbar posture, before and after DME. A single investigator took triplicate measurements of the sagittal thoracolumbar shape using a flexicurve ruler (FCR) then triplicate measurements of the thoracolumbar shape using an adapted FCR (aFCR) in 37 horses. Subsequently, the thoracolumbar shape of 12 horses was measured using the aFCR before random allocation into two groups. Six horses acted as a control group and six horses underwent a series of DME, which included cervical flexion and lateral flexion baited stretches. Measurements were repeated prior to DME, at thirty minutes, one hour and at twenty-four hours after DME to assess thoracolumbar posture. The aFCR ruler had excellent intra-rater reliability compared to a standard FCR (aFCR: p = 0.146; intraclass correlation coefficient (ICC) 0.971; FCR: p = 0.0001; ICC 0.979). Significant increases in flexion occurred in the thoracolumbar region at 30 min (p = 0.027) and one hour (p = 0.046) after DME, but not at 24 h (p > 0.05) with no significant differences in the control group (p > 0.05) between baseline and subsequent times. The results suggest DME create a short-term postural change, determined by using an aFCR, which supports their use as part of a veterinary physiotherapy rehabilitation programme.
Conflicts ofInterest. None. Acknowledgements. We are extremely grateful to all the families who took part in this study, the midwives for their help in recruiting them, and the whole ALSPAC team, which includes interviewers, computer and laboratory technicians, clerical workers, research scientists, volunteers, managers, receptionists and nurses. Funding. The UK Medical Research Council and Wellcome (Grant ref: 217065/Z/19/Z) and the University of Bristol provide core support for ALSPAC. RB, ES, GDS and KT work in a unit that receives funding from the University of Bristol and the UK Medical Research Council (MC_UU_00011/1 and MC_UU_00011/3). This publication is the work of the authors and Lucy Riglin and Anita Thapar will serve as guarantors for the contents of this paper. A comprehensive list of grants funding is available on the ALSPAC website (www.bristol.ac.uk/alspac/external/documents/grant-acknowledgements.pdf). The primary outcome measures used in the paper were specifically funded by the Wellcome Trust (204895/Z/16/Z) for age 25 data. LR, RB and AS conducted this research while funded by the Wellcome Trust (204895/Z/16/Z) for which funding was acquired by ES, GDS, KT and AT. For
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