Epileptic spasms with terror during sleep in CDKL5 encephalopathy

Melikishvili, G; Sharkov, Artem; Gachechiladze, T; Tomenko, T. R.; Pivovarova, A. M.; Volkov, I; Andrade, M T; Castellanos, A; Bienvenu, Thierry; Dulac, O; Roisman, Gabriel; Gataullina, Svetlana

doi:10.1093/sleepadvances/zpac010

Cited by 3 publications

(1 citation statement)

References 42 publications

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“…1,[55][56][57] . Importantly, sleep disturbances represent a considerable source of concern for caregivers and affect the overall quality of life for CDD patients and their families.In our cohort, most CDD subjects experienced a sleep problem (76%), in line with the data reported by Mangatt and coworkers describing that, during their lifetime, CDD patients may show current night waking, sleep breathing disorders, disorders of arousal, sleep-wake transition, and excessive diurnal somnolence55 .…”

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Gut microbiota profile in CDKL5 deficiency disorder patients as a potential marker of clinical severity

Borghi,

Xynomilakis,

Ottaviano

et al. 2023

Preprint

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CDKL5 deficiency disorder (CDD) is a neurodevelopmental condition characterized by global developmental delay, early-onset seizures, intellectual disability, visual and motor impairments. Unlike Rett Syndrome (RTT), CDD lacks a clear regression period. CDD patients frequently encounter gastrointestinal (GI) disturbances and exhibit signs of subclinical immune dysregulation. However, the underlying causes of these conditions remain elusive. Emerging studies indicate a potential connection between neurological disorders and gut microbiota, an area completely unexplored in CDD. We conducted a pioneering study, analyzing fecal microbiota composition in CDD patients and their healthy relatives. Notably, differences in intestinal bacterial diversity and composition were identified in CDD patients. We further investigated microbiota changes based on the severity of GI issues, seizure frequency, sleep disorders, food intake type, impairment in neuro-behavioral features (assessed through the RTT Behaviour Questionnaire – RSBQ), and ambulation capacity.Our findings hint at a potential connection between CDD, microbiota, and symptom severity. This study marks the first exploration of the gut-microbiota-brain axis in CDD patients. It adds to the growing body of research emphasizing the role of the gut microbiota in neurodevelopmental disorders and opens doors to potential interventions that target intestinal microbes with the aim of improving the lives of CDD patients.

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confidence: 99%

Gut microbiota profile in CDKL5 deficiency disorder patients as a potential marker of clinical severity

Borghi,

Xynomilakis,

Ottaviano

et al. 2023

Preprint

View full text Add to dashboard Cite

show abstract

Gut microbiota profile in CDKL5 deficiency disorder patients

Borghi,

Xynomilakis,

Ottaviano

et al. 2024

Sci Rep

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CDKL5 deficiency disorder (CDD) is a neurodevelopmental condition characterized by global developmental delay, early-onset seizures, intellectual disability, visual and motor impairments. Unlike Rett Syndrome (RTT), CDD lacks a clear regression period. Patients with CDD frequently encounter gastrointestinal (GI) disturbances and exhibit signs of subclinical immune dysregulation. However, the underlying causes of these conditions remain elusive. Emerging studies indicate a potential connection between neurological disorders and gut microbiota, an area completely unexplored in CDD. We conducted a pioneering study, analyzing fecal microbiota composition in individuals with CDD (n = 17) and their healthy relatives (n = 17). Notably, differences in intestinal bacterial diversity and composition were identified in CDD patients. In particular, at genus level, CDD microbial communities were characterized by an increase in the relative abundance of Clostridium_AQ, Eggerthella, Streptococcus, and Erysipelatoclostridium, and by a decrease in Eubacterium, Dorea, Odoribacter, Intestinomonas, and Gemmiger, pointing toward a dysbiotic profile. We further investigated microbiota changes based on the severity of GI issues, seizure frequency, sleep disorders, food intake type, impairment in neuro-behavioral features and ambulation capacity. Enrichment in Lachnoclostridium and Enterobacteriaceae was observed in the microbiota of patients with more severe GI symptoms, while Clostridiaceae, Peptostreptococcaceae, Coriobacteriaceae, Erysipelotrichaceae, Christensenellaceae, and Ruminococcaceae were enriched in patients experiencing daily epileptic seizures. Our findings suggest a potential connection between CDD, microbiota and symptom severity. This study marks the first exploration of the gut-microbiota-brain axis in subjects with CDD. It adds to the growing body of research emphasizing the role of the gut microbiota in neurodevelopmental disorders and opens doors to potential interventions that target intestinal microbes with the aim of improving the lives of patients with CDD.

show abstract

Gut microbiota profile in CDKL5 deficiency disorder patients as a potential marker of clinical severity

Borghi,

Xynomilakis,

Ottaviano

et al. 2023

Preprint

View full text Add to dashboard Cite

CDKL5 deficiency disorder (CDD) is a neurodevelopmental condition characterized by global developmental delay, early-onset seizures, intellectual disability, visual and motor impairments. Unlike Rett Syndrome (RTT), CDD lacks a clear regression period. CDD patients frequently encounter gastrointestinal (GI) disturbances and exhibit signs of subclinical immune dysregulation. However, the underlying causes of these conditions remain elusive. Emerging studies indicate a potential connection between neurological disorders and gut microbiota, an area completely unexplored in CDD. We conducted a pioneering study, analyzing fecal microbiota composition in CDD patients and their healthy relatives. Notably, differences in intestinal bacterial diversity and composition were identified in CDD patients. We further investigated microbiota changes based on the severity of GI issues, seizure frequency, sleep disorders, food intake type, impairment in neuro-behavioral features (assessed through the RTT Behaviour Questionnaire - RSBQ), and ambulation capacity. Our findings hint at a potential connection between CDD, microbiota, and symptom severity. This study marks the first exploration of the gut-microbiota-brain axis in CDD patients. It adds to the growing body of research emphasizing the role of the gut microbiota in neurodevelopmental disorders and opens doors to potential interventions that target intestinal microbes with the aim of improving the lives of CDD patients.

show abstract

Epileptic spasms with terror during sleep in CDKL5 encephalopathy

Cited by 3 publications

References 42 publications

Gut microbiota profile in CDKL5 deficiency disorder patients as a potential marker of clinical severity

Gut microbiota profile in CDKL5 deficiency disorder patients as a potential marker of clinical severity

Gut microbiota profile in CDKL5 deficiency disorder patients

Gut microbiota profile in CDKL5 deficiency disorder patients as a potential marker of clinical severity

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