Epilepsy in classic Rett syndrome: Course and characteristics in adult age

Henriksen, Mari Wold; Breck, Hilde; Tetzchner, Stephen von; Paus, Benedicte; Skjeldal, Ola H.; Brodtkorb, Eylert

doi:10.1016/j.eplepsyres.2018.06.012

Cited by 14 publications

(13 citation statements)

References 31 publications

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“…This somewhat differs from our results, which may be due to the variability that exists in the population, especially when evaluating different age groups at different time points. The median age at seizure onset in our study was 4 years, which is consistent with previous reports of median age between 4 and 4.7 years 20,29,30 . Seizures types reported were similar to the data obtained in an Italian cohort, suggesting consistency across studies 20 …”

Section: Discussionsupporting

confidence: 92%

“…The median age at seizure onset in our study was 4 years, which is consistent with previous reports of median age between 4 and 4.7 years. 20,29,30 Seizures types reported were similar to the data obtained in an Italian cohort, suggesting consistency across studies. 20 Compared to T-RTT, seizures in CDD are more severe and begin at a much younger age, consistent with CDD historically being associated with the early onset seizure RTT variant.…”

Section: Seizure Phenotypessupporting

confidence: 81%

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Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study

Cutri‐French

Armstrong

Saby

et al. 2020

Annals of Neurology

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Objective Rett syndrome, CDKL5‐deficiency disorder, FOXG1 disorder, and MECP2 duplication disorder are developmental encephalopathies with shared and distinct features. Although they are historically linked, no direct comparison has been performed. The first head‐to‐head comparison of clinical features in these conditions is presented. Methods Comprehensive clinical information was collected from 793 individuals enrolled in the Rett and Rett‐Related Disorders Natural History Study. Clinical features including clinical severity, regression, and seizures were cross‐sectionally compared between diagnoses to test the hypothesis that these are 4 distinct disorders. Results Distinct patterns of clinical severity, seizure onset age, and regression were present. Individuals with CDKL5‐deficency disorder were the most severely affected and had the youngest age at seizure onset (2 months), whereas children with MECP2 duplication syndrome had the oldest median age at seizure onset (64 months) and lowest severity scores. Rett syndrome and FOGX1 were intermediate in both features. Smaller head circumference correlates with increased severity in all disorders and earlier age at seizure onset in MECP2 duplication syndrome. Developmental regression occurred in all Rett syndrome participants (median = 18 months) but only 23 to 34% of the other disorders. Seizure incidence prior to the baseline visit was highest for CDKL5 deficiency disorder (96.2%) and lowest for Rett syndrome (47.5%). Other clinical features including seizure types and frequency differed among groups. Interpretation Although these developmental encephalopathies share many clinical features, clear differences in severity, regression, and seizures warrant considering them as unique disorders. These results will aid in the development of disease‐specific severity scales, precise therapeutics, and future clinical trials. ANN NEUROL 2020;88:396–406.

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Section: Discussionsupporting

confidence: 92%

Section: Seizure Phenotypessupporting

confidence: 81%

Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study

Cutri‐French

Armstrong

Saby

et al. 2020

Annals of Neurology

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“…For example, a recent large-scale study of 793 individuals reported that there were no significant associations between age of developmental regression and age of seizure onset in patients with RTT or in patients with so-called RTT-like disorders [ 42 ]. Thus, findings of the above correlative nature do not ascertain whether the epilepsy plays a crucial role in deteriorated cognitive abilities in RTT, or if it alternatively reflects the more severe underlying pathophysiology [ 105 ]. In support of the latter explanation, Cooper and colleagues reported that increases in EEG abnormalities and seizures follows developmental regression rather than precedes it in patients with RTT, thus reflecting the consequences of pathological processes that trigger the regression [ 74 ].…”

Section: Resultsmentioning

confidence: 99%

Reviewing Evidence for the Relationship of EEG Abnormalities and RTT Phenotype Paralleled by Insights from Animal Studies

Smirnov

Stroganova²,

Molholm

et al. 2021

IJMS

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Rett syndrome (RTT) is a rare neurodevelopmental disorder that is usually caused by mutations of the MECP2 gene. Patients with RTT suffer from severe deficits in motor, perceptual and cognitive domains. Electroencephalogram (EEG) has provided useful information to clinicians and scientists, from the very first descriptions of RTT, and yet no reliable neurophysiological biomarkers related to the pathophysiology of the disorder or symptom severity have been identified to date. To identify consistently observed and potentially informative EEG characteristics of RTT pathophysiology, and ascertain areas most worthy of further systematic investigation, here we review the literature for EEG abnormalities reported in patients with RTT and in its disease models. While pointing to some promising potential EEG biomarkers of RTT, our review identify areas of need to realize the potential of EEG including (1) quantitative investigation of promising clinical-EEG observations in RTT, e.g., shift of mu rhythm frequency and EEG during sleep; (2) closer alignment of approaches between patients with RTT and its animal models to strengthen the translational significance of the work (e.g., EEG measurements and behavioral states); (3) establishment of large-scale consortium research, to provide adequate Ns to investigate age and genotype effects.

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“…Comorbidities of epilepsy, breathing disturbances, and scoliosis are frequent and reported to occur in up to 90% (Henriksen et al, 2018), >95% (Tarquinio et al, 2018), and 75% (J. Downs, Torode, Wong, Ellaway, Elliott, Christodoulou, et al, 2016) of individuals with RTT.…”

mentioning

confidence: 99%

Decline in gross motor skills in adult Rett syndrome; results from a Danish longitudinal study

Bisgaard

Wong

Højfeldt

et al. 2021

American J of Med Genetics Pt A

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Longevity of individuals with neurodevelopmental diseases as Rett syndrome (RTT) has increased and many reach adulthood and old age. There is therefore a need to increase knowledge about the course of RTT in adults in order to improve medical care management and quality of life. We did a longitudinal study to address if a possible decline in motor skills in adults with RTT can be explained by the presence of common medical conditions as epilepsy, breathing disturbance, and scoliosis. Data from the Danish RTT database, medical files, and videos from visits at the national Center for Rett syndrome were reviewed. The study included 24 individuals aged 30-66 years at last visit after a follow-up period of 6-12 years. Results showed a clinically observable and significant decline in gross motor skills using the Rett syndrome Gross Motor Scale (RSGMS) with a tendency of less decline in the individuals with the best motor abilities. The frequencies of comorbidities were high. Decline in RSGMS score was associated with the presence of epilepsy and severe scoliosis that had been conservatively managed. The results emphasize that epilepsy plays a significant role in the adult RTT life and management of severe scoliosis in the younger years has impact on the motor abilities in adulthood.

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Epilepsy in classic Rett syndrome: Course and characteristics in adult age

Abstract: Epilepsy continues to be a major concern in adults with RTT. Two thirds of women above 30 years of age remained with active epilepsy and 50% of them had seizures at least weekly.

Cited by 14 publications

References 31 publications

Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study

Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study

Reviewing Evidence for the Relationship of EEG Abnormalities and RTT Phenotype Paralleled by Insights from Animal Studies

Decline in gross motor skills in adult Rett syndrome; results from a Danish longitudinal study

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