Understanding neurodevelopmental trajectories and behavioral profiles in SCN1A-related epilepsy syndromes

Postma, Amber; Minderhoud, Crista A.; Otte, Wim M.; Jansen, Floor E.; Gunning, W.B.; Verhoeven, Judith S.; Jongmans, Marian J.; Zinkstok, Janneke R.; Brilstra, Eva H.

doi:10.1016/j.yebeh.2024.109726

Cited by 2 publications

(2 citation statements)

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“…A critical aspect that represents a conundrum is that while the term “aggression” is not commonly used among the behavior difficulties most reported in the literature, recent data report the presence of aggressive behaviors in a range of 8% to 40% of patients (Wirrell et al, 2022 ; Postma et al, 2024 ). A plausible explanation for this could be that aggression-related terminology is not clearly defined and lacks universal acceptance, even among psychology or psychiatry experts.…”

Section: Introductionmentioning

confidence: 99%

“…Overall, a higher propensity for aggression is reported in patients with epilepsy compared to the general population (Piazzini et al, 2012 ). While the literature exploring aggression in Dravet syndrome is far scarcer, the aforementioned studies are also extrapolatable to DS and other DEEs, where behavioral problems, including aggressive behaviors, have also been documented (Wirrell et al, 2022 ; Postma et al, 2024 ).…”

Section: Introductionmentioning

confidence: 99%

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Assessment of aggressive behavior in Dravet syndrome: a critical look

Torres-Fortuny,

Aras,

Duñabeitia

2024

Front. Integr. Neurosci.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Assessment of aggressive behavior in Dravet syndrome: a critical look

Torres-Fortuny,

Aras,

Duñabeitia

2024

Front. Integr. Neurosci.

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Rest-Activity Rhythm Phenotypes in Adults with Epilepsy and Intellectual Disability

Adhyapak,

Cardenas,

Abboud

et al. 2024

Preprint

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ObjectiveSleep and rest-activity rhythms (RARs) are perturbed in many forms of neuropsychiatric illness. In this study, we applied wrist actigraphy to describe the extent of RAR perturbations in adults with epilepsy and intellectual disability (“E+ID”), using a cross-sectional case-control design. We examined whether RAR phenotypes correlated with epilepsy severity, deficits in adaptive function and/or comorbid psychopathology.MethodsPrimary caregivers of E+ID adults provided informed consent during routine ambulatory clinic visits and were asked to complete standardized surveys of overall epilepsy severity (GASE, Global Assessment of Severity of Epilepsy), adaptive function (ABAS-3, Adaptive Behavior Assessment System-3) and psychopathology (ABCL, Adult Behavior Checklist). Caregivers were also asked to ensure that subjects wore an Actiwatch-2 device continuously on their nondominant wrist for at least ten days. From recorded actograms, we calculated RAR amplitude, acrophase, robustness, intradaily variability (IV), interdaily stability (IS) and estimates of sleep quantity and timing. We compared these RAR metrics against those from (i) a previously published cohort of adults with epilepsy without ID (E– ID), and (ii) a cohort of age- and sex-matched intellectually able subjects measured within the Study of Latinos (SOL) Ancillary actigraphy study (SOL). Within E+ID subjects, we appliedk-means analysis to divide subjects into three actigraphically distinct clusters.Results46 E+ID subjects (median age 26 [20-68], 47% female) provided a median recording duration of 11 days [range 6-27]. Surveys reflected low toextremelylow levels of adaptive function (ABAS3 General Adaptive Composite score: median 50 [49-75]), and low/subclinical levels of psychopathology (ABCL total score: median 54.5 [25-67]). Compared with E-ID (n=57) and SOL (n=156) cohorts, E+ID subjects displayed significantly lower RAR amplitude, robustness and IS, with significantly higher IV and total daily sleep. K-means clustering of E+ID subjects recognized an intermediate cluster “B”, with RAR values indistinguishable to E-ID. Cluster “A” subjects displayed pronounced hypoactivity and hypersomnia with high rates of rhythm fragmentation, while cluster “C” subjects featured hyper-robust and high amplitude RARs. All three clusters were similar in age, body mass index, antiseizure medication (ASM) polytherapy, ABAS3 and ABCL scores. We qualitatively describe RAR examples from all three clusters.InterpretationWe show that adults with epilepsy and intellectual disability display a wide spectrum of RAR phenotypes that do not neatly correlate with measures of adaptive function or epilepsy severity. Prospective studies are necessary to determine whether continuous actigraphic monitoring can sensitively capture changes in chronobiological health that may arise with disease progression, iatrogenesis (e.g., ASM toxicity) or acute health deteriorations (e.g., seizure exacerbation, pneumonia). Similar long-term data is necessary to recognize whether behavioral interventions targeted to ‘normalize’ RARs may promote improvements in adaptive function and therapy engagement.

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Understanding neurodevelopmental trajectories and behavioral profiles in SCN1A-related epilepsy syndromes

Cited by 2 publications

References 35 publications

Assessment of aggressive behavior in Dravet syndrome: a critical look

Assessment of aggressive behavior in Dravet syndrome: a critical look

Rest-Activity Rhythm Phenotypes in Adults with Epilepsy and Intellectual Disability

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