Ketogenic Diet Therapy for Epilepsy Associated With Aicardi Syndrome

2021 ◽  
pp. 088307382110233
Author(s):  
Miguel A. Ramirez Sanchez ◽  
Mackenzie C. Cervenka ◽  
Stacey K. Bessone ◽  
Eric H. Kossoff
Keyword(s):  
Ketogenic Diet ◽  
Neurodevelopmental Disorder ◽  
Diet Therapy ◽  
Infantile Spasms ◽  
Johns Hopkins Hospital ◽  
Seizure Freedom ◽  
Seizure Reduction ◽  
Patients Âgés ◽  
Short Period ◽  
Aicardi Syndrome

Introduction: Aicardi syndrome is a rare neurodevelopmental disorder associated with epilepsy in females. Ketogenic diet therapy represents a possible nonpharmacologic treatment in Aicardi syndrome patients. Methods: All patients with Aicardi syndrome seen at Johns Hopkins Hospital (Baltimore, MD) and Johns Hopkins All Children’s Hospital (St Petersburg, FL) treated with ketogenic diet therapy since 1994 were evaluated retrospectively. Results: Fifteen patients, ages 4 months to 34 years, were identified. Ten (67%) patients experienced a ≥50% seizure reduction after 3 months, with 3 (20%) having a ≥90% reduction. Only 1 patient was seizure-free for a short period of time. The number of drugs tried prior to ketogenic diet therapy initiation was correlated with ≥50% seizure reduction at 3 months, 5.8 vs 2.6 in responders versus nonresponders ( P = .01). In addition, the mean number of drugs actively received also correlated, 3.0 vs 1.2, P = .005. Ketogenic diet therapy was slightly more successful in those without infantile spasms, 78% vs 50%, P = .33. Conclusion: Ketogenic diet therapy was helpful in Aicardi syndrome, although seizure freedom was rare. It was especially helpful for those who were more drug-resistant and did not have infantile spasms at ketogenic diet therapy onset.

Advancing the Awareness and Application of Ketogenic Therapies Globally

2016 ◽  
Author(s):  
Beth Zupec-Kania ◽  
Jim Abrahams ◽  
Emma Williams ◽  
Susan A. Masino
Keyword(s):  
Ketogenic Diet ◽  
Diet Therapy ◽  
Seizure Freedom ◽  
Older Children ◽  
Refined Carbohydrates ◽  
Whole Foods

The Charlie Foundation was founded in 1994 out of Jim and Nancy Abrahams’s desire to spare children from the unnecessary suffering their son Charlie endured before achieving seizure freedom with the ketogenic diet. The Abrahams shared their story widely. Emma Williams, whose son Matthew similarly suffered unnecessarily and became seizure-free on the ketogenic diet, founded Matthew’s Friends in 2004 with a similar mission. Nevetheless the diet remained underutilized until several key breakthroughs in 2008. Use of ketogenic diet therapy has spread rapidly worldwide, and with increased use came a broader understanding of benefits for other disorders; less restrictive versions were developed to meet the needs of older children and adults. In 2012 the Charlie Foundation also began recommending that all people with epilepsy eliminate sugar, reduce refined carbohydrates, and choose a predominantly whole foods diet. Both foundations have expanded efforts to additional conditions that can benefit from ketogenic therapies.

scholarly journals Ketogenic Diet Therapy for the Treatment of Post-encephalitic and Autoimmune-Associated Epilepsies

2021 ◽  
Vol 12 ◽  
Author(s):  
Khalil S. Husari ◽  
Mackenzie C. Cervenka
Keyword(s):  
Status Epilepticus ◽  
Ketogenic Diet ◽  
Case Series ◽  
Diet Therapy ◽  
Refractory Status Epilepticus ◽  
Prior History ◽  
Seizure Freedom ◽  
Modified Atkins Diet ◽  
Feasible Option ◽  
Drug Resistant Epilepsy

Introduction: Acute Encephalitis is associated with a high risk of acute symptomatic seizures, status epilepticus, and remote symptomatic epilepsy. Ketogenic diet therapies (KDT) have been established as a feasible and safe adjunctive management of refractory- and super-refractory status epilepticus. However, the role of KDT in the chronic management of Post-encephalitic epilepsy (PE) and autoimmune-associated epilepsy (AE) is unknown. This study aims to investigate the use of KDT in patients with PE and AE.Methods: A retrospective single-center case series examining adult patients with PE and AE treated with the modified Atkins diet (MAD), a KDT commonly used by adults with drug-resistant epilepsy.Results: Ten patients with PE and AE who were treated with adjunctive MAD were included. Four patients had either confirmed or presumed viral encephalitis, five patients had seronegative AE, and one patient had GAD65 AE. The median latency between starting MAD and onset of encephalitis was 6 years (IQR: 1–10). The median duration of MAD was 10 months (IQR: 3.75–36). Three patients (30%) became seizure-free, one patient (10%) achieved 90% seizure freedom, and three patients (30%) achieved a 50–75% reduction in their baseline seizure frequency, while three patients (30%) had no significant benefit. Overall, seven patients (70%) achieved ≥50% seizure reduction.Conclusion: In addition to its established role in the treatment of RSE, KDT may be a safe and feasible option for the treatment of chronic PE and AE, particularly in those with prior history of SE. Prospective studies are warranted to explore the efficacy of KDT in management of patients with PE and AE.

Evaluation of the Utility of a Dietary Therapy Second Opinion Clinic

2018 ◽  
Vol 33 (4) ◽  
pp. 290-296
Author(s):  
Angelica R. Lackey ◽  
Zahava Turner ◽  
Courtney A. Haney ◽  
Anthony C. Stanfield ◽  
Eric H. Kossoff
Keyword(s):  
Ketogenic Diet ◽  
Seizure Control ◽  
Fine Tuning ◽  
Second Opinion ◽  
Dietary Therapy ◽  
Johns Hopkins Hospital ◽  
Carnitine Supplementation ◽  
Seizure Reduction ◽  
Ketogenic Diets ◽  
The Mean

Fine-tuning ketogenic diets to achieve better seizure control may influence families to seek second opinions. Since 2009, Johns Hopkins Hospital has provided second opinions for children followed at other ketogenic diet centers. We retrospectively reviewed 65 consecutive children seen in this clinic; parents were also sent a 2-page survey. The mean age was 6.6 years and dietary therapy had been used a median 9 months. Seizure reduction >50% was achieved in 65%, including 35% with >90% reduction. Parent questions included how to improve seizure control (65%), ideal diet duration (18%), and confirmation of the plan (11%). The most common recommendations were anticonvulsant reduction (43%), adding oral citrates/calcium/vitamins (38%), and carnitine supplementation (31%). Diet discontinuation was more frequently suggested in those children with <50% seizure reduction (60% vs 20%, P = .001). Recommendations were successful in 78%, and the visit was reported as useful by 88%.

scholarly journals An Examination of Serum Acylcarnitine and Amino Acid Profiles at Different Time Point of Ketogenic Diet Therapy and Their Association of Ketogenic Diet Effectiveness

Nutrients ◽  
2020 ◽  
Vol 13 (1) ◽  
pp. 21
Author(s):  
Pi-Lien Hung ◽  
Ju-Li Lin ◽  
Chien Chen ◽  
Kai-Yin Hung ◽  
Tzu-Yun Hsieh ◽  
...  
Keyword(s):  
Ketogenic Diet ◽  
Retention Rate ◽  
Reduction Rate ◽  
Diet Therapy ◽  
Free Carnitine ◽  
Carnitine Level ◽  
Seizure Reduction ◽  
Amino Acid Profiles ◽  
Drug Resistant Epilepsy ◽  
Glycine Level

Background: This study aimed to identify metabolic parameters at different time points of ketogenic diet therapy (KDT) and investigate their association with response to KDT in pediatric drug-resistant epilepsy (DRE). Methods: Prospectively, twenty-nine patients (0.67~20 years old) with DRE received classic ketogenic diet with non-fasting, gradual KD initiation protocol (GRAD-KD) for 1 year were enrolled. A total of 22 patients remaining in study received blood examinations at baseline, 3rd, 6th, 9th, and 12th months of KDT. β-hydroxybutyrate, free carnitine, acylcarnitines, and amino acids were compared between responders (seizure reduction rate ≥ 50%) and non-responders (seizure reduction rate < 50%) to identify the effectiveness of KDT. Results: The 12-month retention rate was 76%. The responders after 12 months of KDT were 59% (13/22). The free carnitine level decreased significantly at 9th months (p < 0.001) but increased toward baseline without symptoms. Propionyl carnitine (C3), Isovaleryl carnitine (C5), 3-Hydroxyisovalerylcarnitine (C5:OH) and methylmalonyl carnitine (C4-DC) decreased but 3-hydroxybutyrylcarnitine (C4:OH) increased significantly at 12th months of KDT. The glycine level was persistently higher than baseline after KDT. KDT responders had lower baseline C3 and long-chain acylcarnitines, C14 and C18, as well as lower C5, C18, and leucine/isoleucine. Conclusions: KDT should be avoided in patients with non-ketotic hyperglycemia. Routine carnitine supplementation is not recommended because hypocarnitinemia was transient and asymptomatic during KDT. Better mitochondrial βoxidation function associates with greater KDT response.

Response to Steroids in IQSEC2-Related Encephalopathy Presenting with Rett-Like Phenotype and Infantile Spasms

2020 ◽  
Author(s):  
Divya Nagabushana ◽  
Aparajita Chatterjee ◽  
Raghavendra Kenchaiah ◽  
Ajay Asranna ◽  
Gautham Arunachal ◽  
...  
Keyword(s):  
Late Onset ◽  
Neurodevelopmental Disorder ◽  
Epileptic Encephalopathy ◽  
Infantile Spasms ◽  
The Past ◽  
Resource Limited ◽  
The Central Nervous System ◽  
Motor Milestone ◽  
Behavior And Cognition ◽  
Atypical Rett Syndrome

Abstract Introduction IQSEC2-related encephalopathy is an X-linked childhood neurodevelopmental disorder with intellectual disability, epilepsy, and autism. This disorder is caused by a mutation in the IQSEC2 gene, the product of which plays an important role in the development of the central nervous system. Case Report We describe the symptomatology, clinical course, and management of a 17-month-old male child with a novel IQSEC2 mutation. He presented with an atypical Rett syndrome phenotype with developmental delay, autistic features, midline stereotypies, microcephaly, hypotonia and epilepsy with multiple seizure types including late-onset infantile spasms. Spasms were followed by worsening of behavior and cognition, and regression of acquired milestones. Treatment with steroids led to control of spasms and improved attention, behavior and recovery of lost motor milestone. In the past 10 months following steroid therapy, child lags in development, remains autistic with no further seizure recurrence. Conclusion IQSEC2-related encephalopathy may present with atypical Rett phenotype and childhood spasms. In resource-limited settings, steroids may be considered for spasm remission in IQSEC2-related epileptic encephalopathy.

Prognostic factors of infantile spasms: Role of treatment options including a ketogenic diet

2013 ◽  
Vol 35 (8) ◽  
pp. 821-826 ◽  
Author(s):  
Jeehun Lee ◽  
Jun Hwa Lee ◽  
Hee Jun Yu ◽  
Munhyang Lee
Keyword(s):  
Prognostic Factors ◽  
Ketogenic Diet ◽  
Treatment Options ◽  
Infantile Spasms

scholarly journals Blood beta-hydroxybutyrate correlates better with seizure reduction due to ketogenic diet than do ketones in the urine

Seizure ◽  
2010 ◽  
Vol 19 (1) ◽  
pp. 36-39 ◽  
Author(s):  
Renske van Delft ◽  
Danielle Lambrechts ◽  
Pauline Verschuure ◽  
Jacques Hulsman ◽  
Marian Majoie
Keyword(s):  
Ketogenic Diet ◽  
Seizure Reduction ◽  
Beta Hydroxybutyrate

Aicardi Syndrome in One Dizygotic Twin

PEDIATRICS ◽  
1985 ◽  
Vol 76 (3) ◽  
pp. 450-453
Author(s):  
William H. Constad ◽  
Rudolph S. Wagner ◽  
Anthony R. Caputo
Keyword(s):  
Corpus Callosum ◽  
Strong Evidence ◽  
Infantile Spasms ◽  
Unaffected Sibling ◽  
Early Age ◽  
Mutational Event ◽  
Dizygotic Twin ◽  
First Case ◽  
Vertebral Anomalies ◽  
Aicardi Syndrome

The Aicardi syndrome consists of infantile spasms, defects of the corpus callosum, dorsal vertebral anomalies, and chorioretinal lacunar defects. The etiology is, as yet, unknown. The most likely cause, however, is an χ-linked mutational event that is lethal in males. The first case of the Aicardi syndrome known to occur in one twin is reported. The patient was female and her unaffected sibling was male. This provides strong evidence to support the theory of an χ-linked mutational event as the cause of this condition. The typical chorioretinal defects, often difficult to document because these children die at an early age, are clearly illustrated in this report.

Genetic variations of adenosine kinase as predictable biomarkers of efficacy of vagus nerve stimulation in patients with pharmacoresistant epilepsy

2021 ◽  
pp. 1-10
Author(s):  
Yifan Zhang ◽  
Xiongfei Wang ◽  
Chongyang Tang ◽  
Yuguang Guan ◽  
Fan Chen ◽  
...  
Keyword(s):  
Vagus Nerve ◽  
Nerve Stimulation ◽  
Vagus Nerve Stimulation ◽  
Refractory Epilepsy ◽  
Genetic Variations ◽  
Adenosine Kinase ◽  
Minor Allele ◽  
Seizure Freedom ◽  
Seizure Reduction ◽  
Genes Encoding

OBJECTIVE Vagus nerve stimulation (VNS) is an alternative treatment option for individuals with refractory epilepsy, with nearly 40% of patients showing no benefit after VNS and only 6%–8% achieving seizure freedom. It is presently unclear why some patients respond to treatment and others do not. Therefore, identification of biomarkers to predict efficacy of VNS is of utmost importance. The objective of this study was to explore whether genetic variations in genes involved in adenosine kinase (ADK), ecto-5′-nucleotidase (NT5E), and adenosine A1 receptor (A1R) are linked to outcome of VNS in patients with refractory epilepsy. METHODS Thirty single-nucleotide polymorphisms (SNPs), including 9 in genes encoding ADK, 3 in genes encoding NT5E, and 18 in genes encoding A1R, were genotyped in 194 refractory epilepsy patients who underwent VNS. The chi-square test and binary logistic regression were used to determine associations between genetic differences and VNS efficacy. RESULTS A significant association between ADK SNPs rs11001109, rs7899674, and rs946185 and seizure reduction with VNS was found. Regardless of sex, age, seizure frequency and type, antiseizure drug use, etiology, and prior surgical history, all patients (10/10 patients [100%]) with minor allele homozygosity at rs11001109 (genotype AA) or rs946185 (AA) achieved > 50% seizure reduction and 4 patients (4/10 [40%]) achieved seizure freedom. VNS therapy demonstrated higher efficacy among carriers of minor allele rs7899674 (CG + GG) (68.3% vs 48.8% for patients with major allele homozygosity). CONCLUSIONS Homozygous ADK SNPs rs11001109 (AA) and rs946185 (AA), as well as minor allele rs7899674 (CG + GG), may serve as useful biomarkers for prediction of VNS therapy outcome.

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