Background and objectives:Eyelid myoclonia with absences (EMA) is a generalized epilepsy syndrome whose prognosis and clinical characteristics are still partially undefined. We investigated electroclinical endophenotypes and long-term seizure outcome in a large cohort of EMA patients.Methods:In this multicenter retrospective study, EMA patients with ≥5 years of follow-up were included. We investigated prognostic patterns and sustained terminal remission (STR), along with their prognostic factors. Moreover, a two-step cluster analysis was used to investigate the presence of distinct EMA endophenotypes.Results:We included 172 patients, with a median age at onset of 7 years (interquartile range (IQR) 5-10) and a median follow-up duration of 14 years (IQR 8.25-23.75). Sixty-six patients (38.4%) displayed a non-remission pattern, whereas remission and relapse patterns were encountered in 56 (32.6%) and 50 (29.1%) subjects. Early epilepsy onset, history of febrile seizures (FS) and eyelid myoclonia (EM) status epilepticus significantly predicted a non-remission pattern according to multinomial logistic regression analysis. STR was achieved by 68 (39.5%) patients with a mean latency of 14.05 years (SD ± 12.47). Early epilepsy onset, psychiatric comorbidities, and a history of FS and generalized tonic-clonic seizures (GTCS) were associated with a lower probability of achieving STR according to a Cox regression proportional hazards model. Antiseizure medication (ASM) withdrawal was attempted in 62/172 patients, and seizures relapsed in 74.2%. Cluster analysis revealed two distinct clusters with 86 patients each. Cluster 2, which we defined as “EMA-plus”, was characterized by an earlier age at epilepsy onset, higher rate of intellectual disability, EM status epilepticus, generalized paroxysmal fast activity, self-induced seizures, FS, and poor ASM response, whereas Cluster 1, the “EMA-only” cluster, was characterized by a higher rate of seizure remission and more favorable neuropsychiatric outcome.Discussion:Early epilepsy onset was the most relevant prognostic factor for poor treatment response. A long latency between epilepsy onset and ASM response was observed, suggesting the impact of age-related brain changes in EMA remission. Finally, our cluster analysis showed a clear-cut distinction of EMA patients into an EMA-plus insidious subphenotype and an EMA-only benign cluster that strongly differed in terms of remission rates and cognitive outcomes.

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ÖZET İnfertilite stres yaratan ve başa çıkılması zor bir kriz durumudur. İnfertil çiftlerde kadınların erkeklerden daha fazla stres yaşadığı ve stresle başa çıkmada erkeklere göre daha çok başa çıkma yöntemi kullandıkları bilinmektedir. Ayrıca kadın ve erkeklerin kullandıkları başa çıkma yöntemleri arasında farklılıklar vardır. İnfertilite stresi ile başa çıkmada kadınlar daha çok dilek, umut ve kaçış, yakın çevreleri ile iletişime geçme, problemin paylaşılabileceği gruplara katılma, konuşma, destek arama, konuyla ilgili okuma ve eğitimlere katılma, sorumluluk alma başa çıkma yöntemlerini kullanmayı seçmektedir. Erkekler ise dikkatlerini konudan uzaklaştırma, duruma odaklanmama, kaçınma, duygularını kontrol etme, başarılı olacağı işlere yönelme, problem çözme, başka yaşam hedefleri bulma, yaşamdan keyif alma gibi başa çıkma yöntemlerini kullanmaktadır. Literatürde infertilite stresi ile başa çıkma yöntemleri ile ilgili farklı sınıflandırmalara rastlanmaktadır. İnfertil çiftlerin yaşadıkları stres ve kullandıkları başa çıkma yöntemleri bakım verme sırasında değerlendirilmelidir. İnfertil bireyler için başa çıkılması oldukça güç olan bu kriz durumunda, bireylere gerekli danışmanlık ve desteğin sağlanmasında hemşirelere önemli görevler düşmektedir.Anahtar Kelimeler: İnfertilite; stres; infertilite stresi; başa çıkma.ABSTRACT Infertility is a crisis situation, which causes stress and is hard to cope with. It is reported in couples that women experience more stress and they use more methods to cope with stress than men. There are also differences between the methods women and men use to cope with. In coping with infertility stress women choose to use the methods like wishing, hope and avoidance, communicating with their inner circle, attending to groups where they can share their problems, talking, searching for support, reading and attending to educations about the subject and taking responsibility. On the other hand, men prefer the coping methods like drawing their attention away from the subject, not concentrating on the situation, avoidance, controlling his feelings, concentrating on the works that he can be successful, problem solving, finding other life goals and enjoying life. In the references, different grouping studies are found in terms of coping with infertility stress. The stress experienced by the infertile couples and the methods they use to cope with should be taken into consideration while giving care. Nurses have significant roles in consulting and supporting the infertile individuals in coping with this crisis situation, which is very hard to cope with.

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Background: Eyelid myoclonia with absences (EMA) has been associated with marked clinical heterogeneity. Early epilepsy onset has been recently linked to lower chances of achieving sustained remission and to a less favorable neuropsychiatric outcome. However, much work is still needed to better define this generalized epilepsy syndrome. Methods:In this multicenter retrospective cohort study, we included 267 EMA patients from 9 countries. The impact of age at epilepsy onset (AEO) on EMA clinical features was investigated, along with the distinctive clinical characteristics of patients showing sporadic myoclonia over body regions other than eyelids (body-MYO).Results: Kernel density estimation revealed a trimodal distribution of AEO and Fisher-Jenks optimization disclosed three EMA subgroups: early-onset (EO-EMA), intermediate-onset (IO-EMA) and late-onset subgroup (LO-EMA). EO-EMA was associated with the highest rate of intellectual disability, antiseizure medication refractoriness and psychiatric comorbidities and with the lowest rate of family history of epilepsy. LO-EMA was associated with the highest proportion of body-MYO and generalized tonic-clonic seizures (GTCS), whereas IO-EMA had the lowest observed rate of additional findings. A family history of EMA was significantly more frequent in IO-EMA and LO-EMA compared with EO-EMA. In the subset of patients with body-MYO (58/267), we observed a significantly higher rate of migraine and GTCS but no relevant differences in terms of other electroclinical features and seizure outcome. Conclusion:Based on AEO, we identified consistent EMA subtypes characterized by distinct electroclinical and familial features. Our observations highlight EMA as a model genetic generalized epilepsy syndrome, encompassing a spectrum of disease subtypes ranging from idiopathic generalized epilepsy to developmental/epileptic encephalopathy.

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