Publications by authors named "Natasha Schoeler"

We aimed to develop a registry ('Keto-Reg') for individuals with epilepsy referred for ketogenic dietary therapy (KDT) and to test feasibility of its implementation. The purpose of the registry is to provide a platform for collaborative research to answer specific research questions regarding long-term clinical and safety outcomes and to identify the most suitable candidates for KDT. Registry data items were determined via an international Delphi survey of KDT healthcare professionals, and then entered into an electronic platform.

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  • * Recent research examines the effectiveness of ketogenic diets as a potential treatment for patients with refractory status epilepticus.
  • * The article summarizes discussions from the 9th London-Innsbruck Colloquium, focusing on the practical aspects of applying ketogenic diets in critical care settings.
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Background: Ketogenic diet therapy (KDT) has been recommended as a treatment for drug-resistant epilepsy in children and young people since 2012 in the National Institute for Health and Care Excellence Clinical Guidelines for Epilepsies. The Ketogenic Dietitians Research Network completed a survey in 2017 to assess the impact of these guidelines.

Methods: An online survey was circulated to ketogenic dietitians across the UK and Ireland.

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Purpose: There is limited research on the proportion of individuals with epilepsy who maintain response to ketogenic diet therapy (KDT) after discontinuing treatment. We aimed to determine the proportion of individuals who did / did not maintain response post KDT and explore factors that may influence the likelihood of maintaining response.

Methods: Retrospective data were collected from 97 individuals from 9 KDT centres.

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Objective: To investigate incorporating a ready-to-use 2.5:1 ratio liquid feed into a ketogenic diet (KD) in children and adults with drug-resistant epilepsy.

Methods: Following a three-day baseline, patients (n = 19; age: 19 years [SD 13], range: 8-46 years) followed a KD for 28 days (control period), then incorporated ≥200 mL/day of a ready-to-use liquid feed, made with a ratio of 2.

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Background: Many infancy-onset epilepsies have poor prognosis for seizure control and neurodevelopmental outcome. Ketogenic diets can improve seizures in children older than 2 years and adults who are unresponsive to antiseizure medicines. We aimed to establish the efficacy of a classic ketogenic diet at reducing seizure frequency compared with further antiseizure medicine in infants with drug-resistant epilepsy.

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Background: The COVID-19 pandemic resulted in a significant change in the way healthcare was delivered worldwide. During this time, a survey of Ketogenic Dietitians Research Network (KDRN) members found that all respondents expected digital platforms for clinics and/or education to continue post-pandemic. As a follow-up to this, we surveyed views about video consultations (VCs) of patients and carers of those following the ketogenic diet for drug-resistant epilepsy.

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Rationale: Ketogenic diet therapy (KDT) is an effective treatment for drug-resistant epilepsy in children. There is conflicting evidence regarding the impact of KDT on growth. We aimed to determine whether linear growth and weight were affected in children who followed KDT in the UK, and to explore potential associations with clinical or demographic factors with impacted growth.

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Aim: To investigate the rate of successful withdrawal of antiseizure medication (ASM) after starting the ketogenic diet in children and identify predictive factors.

Method: We retrospectively reviewed data of children with epilepsy, who were treated with the ketogenic diet for 6 months or longer at our institution, over a 5-year period. We defined successful withdrawal of one or more medications as a time period of 3 months or more off this medication without restarting it or starting a new agent.

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This prospective open-label feasibility study aimed to evaluate acceptability, tolerability and compliance with dietary intervention with K.Vita, a medical food containing a unique ratio of decanoic acid to octanoic acid, in individuals with drug-resistant epilepsy. Adults and children aged 3-18 years with drug-resistant epilepsy took K.

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Medical ketogenic diets (KDs) are effective yet resource-intensive treatment options for drug-resistant epilepsy (DRE). We investigated dietetic care contact time, as no recent data exist. An online survey was circulated to ketogenic dietitians in the UK and Ireland.

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Ketogenic diet therapies (KDT) are high-fat, low carbohydrate diets used as an effective treatment option for drug-resistant epilepsy. There is limited research on the efficacy of KDT for super-refractory status epilepticus (SRSE). We systematically review evidence for use of KDT in children with SRSE and present a single UK tertiary centre's experience.

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Objective: Ketogenic diet therapy (KDT) is a group of high-fat, low-carbohydrate diets used as an effective treatment option for children and adults with drug-resistant epilepsy. There is limited research on the efficacy of KDT in infants, where there is the highest incidence of onset of the epilepsy. We aimed to systematically review studies that have reported on response to KDT in infants with epilepsy.

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Objective: Biochemical assessment is recommended for patients prior to initiating and following a ketogenic diet (KD). There is no published literature regarding current practice in the UK and Ireland. We aimed to explore practice in comparison with international guidelines, determine approximate costs of biochemical testing in KD patients across the UK and Ireland, and promote greater consistency in KD services nationally.

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  • The article initially spelled the author's name incorrectly as Erik Niks instead of Erik H. Niks.
  • This error has been corrected in the PDF and HTML versions of the article.
  • The correction ensures that the author's name is accurately represented moving forward.
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  • The original article had a mistake in the author list, showing Stéphanie Baulac as the corresponding author twice.
  • This error has been fixed in the online HTML version of the article.
  • The PDF version was correct when the article was originally published.
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Article Synopsis
  • * Analysis of data from 73 individuals showed that GATOR1-related seizures are primarily focal, often resistant to treatment, with a mean onset age of 4.4 years and links to conditions like focal cortical dysplasia.
  • * The classification of 140 GATOR1 variants revealed that a majority (68%) are pathogenic, indicating GATOR1 genes play a significant role in the development of focal epilepsies and related complications, including a risk for sudden unexpected death in epilepsy (SUDEP).
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Objective: With the exception of specific metabolic disorders, predictors of response to ketogenic dietary therapies (KDTs) are unknown. We aimed to determine whether common variation across the genome influences the response to KDT for epilepsy.

Methods: We genotyped individuals who were negative for glucose transporter type 1 deficiency syndrome or other metabolic disorders, who received KDT for epilepsy.

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Background: The incidence of epilepsy is greatest in the first 2 years of life, an age group where there is generally a poor prognosis for both seizure control and neurodevelopmental outcome. Early control of seizures can be associated with better developmental outcome but many of the epilepsies presenting in infancy are poorly responsive to antiepileptic medication. The ketogenic diet (KD) is a high-fat, low-carbohydrate diet designed to mimic the effects of starvation on the body.

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Objective: In the absence of specific metabolic disorders, accurate predictors of response to ketogenic dietary therapies (KDTs) for treating epilepsy are largely unknown. We hypothesized that specific biochemical parameters would be associated with the effectiveness of KDT in humans with epilepsy. The parameters tested were β-hydroxybutyrate, acetoacetate, nonesterified fatty acids, free and acylcarnitine profile, glucose, and glucose-ketone index (GKI).

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Ketogenic dietary therapies are an effective treatment option for children with drug-resistant epilepsy. There is an increasing worldwide interest in using these diets to manage adult epilepsy; uncontrolled studies show similar response rates to those in children. Despite this, there are only a few centres with dedicated services for adults.

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In the absence of specific metabolic disorders, predictors of response to ketogenic dietary therapies (KDT) are unknown. We aimed to determine whether variants in established candidate genes KCNJ11 and BAD influence response to KDT. We sequenced KCNJ11 and BAD in individuals without previously-known glucose transporter type 1 deficiency syndrome or other metabolic disorders, who received KDT for epilepsy.

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Sudden unexpected death in epilepsy (SUDEP) represents the most severe degree of the spectrum of epilepsy severity and is the commonest cause of epilepsy-related premature mortality. The precise pathophysiology and the genetic architecture of SUDEP remain elusive. Aiming to elucidate the genetic basis of SUDEP, we analysed rare, protein-changing variants from whole-exome sequences of 18 people who died of SUDEP, 87 living people with epilepsy and 1479 non-epilepsy disease controls.

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