25 research outputs found
Case report: KETOLAND the psychoeducation program for ketogenic diet
Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a rare neurological disorder characterized by a wide spectrum of symptoms: epilepsy, movement disorders and neurocognitive impairment. The gold standard treatment for GLUT1DS are ketogenic dietary therapies (KDTs), specifically classical ketogenic diet (CKD). Despite the benefits, CKD often represents a challenge for patients and their families since meal preparation is extremely demanding and deviates a lot from normal diet. To assure an optimal compliance to CKD a psychological support for parents and patients with GLUT1DS is highly recommended. Specifically, a psychoeducational intervention that ameliorates the knowledge about the illness and its therapy improves treatment' s adherence and efficacy. The aim of this case report is to investigate the effectiveness of a psychoeducational program, partially implemented through telepsychology, based on the theoretical model of Cognitive Behavioral Play Therapy (CBPT) to support KDT knowledge and adherence in a patient with GLUT1DS who presented a worsening of her clinical picture due to a sparse knowledge of KDTs principles which determined a low adherence. Thus, with this case report we propose a model of intervention with psychoeducation in a patient with a complex chronic disease
Ketogenic dietary therapies in epilepsy: recommendations of the Italian League against Epilepsy Dietary Therapy Study Group
A stepwise increase in the utilization of ketogenic dietary therapies for drug-resistant epilepsy has been observed in Italy in the last decade, although it is still considered often underused in many centers when compared to other countries. The Dietary Therapy Study Group of the Italian League against Epilepsy proposes practical recommendations to improve shared knowledge and facilitate the application of ketogenic dietary therapies, optimizing its efficacy and tolerability. The experts involved (11 child neuropsychiatrists, two adult neurologists, one psychologist, one pharmacologist, one pediatric endocrinologist, one representative of patients' associations, and three dietitians and clinical nutritionists) responded to a survey on current clinical practice issues and were asked to discuss controversial topics related to supplementation, long-term maintenance, transition, and a multidisciplinary approach to ketogenic dietary therapies. Practical indications for patient selection, diet initiation, management, side effects prevention, and follow-up are provided
Ketonemia variability through menstrual cycle in patients undergoing classic ketogenic diet
IntroductionKetogenic dietary therapies (KDT) are well-established, safe, non-pharmacologic treatments used for children and adults with drug-resistant epilepsy and other neurological disorders. Ketone bodies (KBs) levels are recognized as helpful to check compliance to the KDT and to attempt titration of the diet according to the individualized needs. KBs might undergo inter-individual and intra-individual variability and can be affected by several factors. Possible variations in glycemia and ketone bodies blood levels according to the menstrual cycle have not been systematically assessed yet, but this time window deserves special attention because of hormonal and metabolic related changes.MethodsThis study aims at searching for subtle changes in KBs blood level during menstrual cycle in female patients undergoing a stable ketogenic diet, by analyzing 3-months daily measurement of ketone bodies blood levels and glucose blood levels throughout the menstrual cycle.ResultsWe report the preliminary results on six female patients affected by GLUT1DS or drug resistant epilepsy, undergoing a stable classic ketogenic diet. A significant increase in glucose blood levels during menstruation was found in the entire cohort. As far as the ketone bodies blood levels, an inversely proportional trend compared to glycemia was noted.ConclusionExploring whether ketonemia variations might occur according to the menstrual cycle is relevant to determine the feasibility of transient preventive diet adjustments to assure a continuative treatment efficacy and to enhance dietary behavior support.Clinical trial registrationclinicaltrials.gov, identifier NCT05234411
Families’ Perception of Classic Ketogenic Diet Management in Acute Medical Conditions: A Web-Based Survey
Objective: To describe families’ experiences in managing epileptic patients undergoing ketogenic dietary therapies (KDTs) in acute medical settings. Methods: We conducted a short online survey addressed to the families of patients undergoing a classic ketogenic diet (cKD) for at least three months. The survey was composed of 18 questions exploring the following issues: demographic characteristics, epilepsy diagnosis, ketogenic-diet treatment history, the reason for emergency-ward admission and patient management, surgery-procedure management, and outcomes. Results: A sample of 50 families agreed to participate. Out of 50 patients, 33 (66%) had been undergoing a cKD for more than two years. Fifteen (30%) patients had been admitted at least once to the Emergency Room (ER), and 8.2% had undergone surgical procedures during cKD treatment. The causes of ER admission were the following: seizures, infection, trauma, and gastrointestinal or respiratory problems. In 75% of cases, blood ketonemia was not monitored during ER admission, and according to 46% of responders, the medical staff intervening did not have a basic knowledge of KDTs. Conclusions: According to both our experience and caregivers’ reports, it might be useful to search for standardized specific approaches to patients undergoing KDTs in the emergency setting
The effects of Ketogenic dietary therapies on sleep: a scoping review protocol
The present scoping review aimed to identify and map available evidence of Ketogenic dietary therapies on sleep quality and structure and inform research and clinical practice in the field
Blindness affects the developmental trajectory of the sleeping brain
Sleep plays a crucial role in brain development, sensory information processing, and consolidation. Sleep spindles are markers of these mechanisms as they mirror the activity of the thalamocortical circuits. Spindles can be subdivided into two groups, slow (10–13 Hz) and fast (13–16 Hz), which are each associated with different functions. Specifically, fast spindles oscillate in the high-sigma band and are associated with sensorimotor processing, which is affected by visual deprivation. However, how blindness influences spindle development has not yet been investigated. We recorded nap video-EEG of 50 blind/severely visually impaired (BSI) and 64 sighted children aged 5 months to 6 years old. We considered aspects of both macro- and micro-structural spindles. The BSI children lacked the evolution of developmental spindles within the central area. Specifically, young BSI children presented low central high-sigma and high-beta (25–30 Hz) event-related spectral perturbation and showed no signs of maturational decrease. High-sigma and high-beta activity in the BSI group correlated with clinical indices predicting perceptual and motor disorders. Our findings suggest that fast spindles are pivotal biomarkers for identifying an early developmental deviation in BSI children. These findings are critical for initial therapeutic intervention
Characterization of Speech and Language Phenotype in GLUT1DS
Background: To analyze the oral motor, speech and language phenotype in a sample of pediatric patients with GLUT 1 transporter deficiency syndrome (GLUT1DS). Methods: eight Italian-speaking children with GLUT1DS (aged 4.6–15.4 years) in stable treatment with ketogenic diet from a variable time underwent a specific and standardized speech and language assessment battery. Results: All patients showed deficits with different degrees of impairment in multiple speech and language areas. In particular, orofacial praxis, parallel and total movements were the most impaired in the oromotor domain; in the speech domain patients obtained a poor performance in the diadochokinesis rate and in the repetition of words that resulted as severely deficient in seven out of eight patients; in the language domain the most affected abilities were semantic/phonological fluency and receptive grammar. Conclusions: GLUT1DS is associated to different levels of speech and language impairment, which should guide diagnostic and therapeutic intervention. Larger population data are needed to identify more precisely a speech and language profile in GLUT1DS patients
Ketosis and migraine: a systematic review of the literature and meta-analysis
Introduction: Headaches are a prevalent disorder worldwide, and there is
compelling evidence that certain dietary interventions could provide relief from
attacks. One promising approach is ketogenic therapy, which replaces the brain’s
glucose fuel source with ketone bodies, potentially reducing the frequency or
severity of headaches.
Aim: This study aims to conduct a systematic review of the scientific literature
on the impact of ketosis on migraine, using the Preferred Reporting Items for
Systematic Reviews and Meta-Analyses (PRISMA) method.
Results: After a careful selection process and bias evaluation, 10 articles were
included in the review, primarily from Italy. The bias assessment indicated that
50% of the selected articles had a low risk of bias in all domains, with the
randomization process being the most problematic domain. Unfortunately, the
evaluation of ketosis was inconsistent between articles, with some assessing
ketonuria, some assessing ketonemia, and some not assessing ketosis levels at
all. Therefore, no association could be made between the level of ketosis and
the prevention or reduction of migraine attacks. The ketogenic therapies tested
in migraine treatments included the very low-calorie ketogenic diet (VLCKD, n =
4), modified Atkins diet (MAD, n = 3), classic ketogenic diet (cKDT, n = 2), and the
administration of an exogenous source of beta-hydroxybutyrate (BHB). The metaanalysis, despite reporting high heterogeneity, found that all interventions had an
overall significant eect (Z = 9.07, p < 0.00001; subgroup dierences, Chi2 = 9.19,
dif = 3, p = 0.03; I
2
, 67.4%), regardless of the type of endogenous or exogenous
induction of ketosis.
Conclusion: The initial findings of this study suggest that metabolic ketogenic
therapy may provide some benefit in treating migraines and encourage further
studies, especially randomized clinical trials with appropriate and standardized
methodologies. The review strongly recommends the use of the adequate
measurement of ketone levels during ketogenic therapy to monitor adherence to
the treatment and improve knowledge of the relationship between ketone bodies
and e cacy.
Systematic review registration: https://www.crd.york.ac.uk/prospero/, identifier:
CRD4202233062
Use of Remote Monitoring by E-mail for Long-Term Management of the Classic Ketogenic Diet
The classic ketogenic diet (cKD) requires constant nutritional monitoring over time both to ensure its effectiveness and to reduce the likelihood of short- and long-term adverse effects. We retrospectively described the use of remote monitoring by e-mail during the first year of follow-up on cKD in 34 children (47% males; age range: 2−17 years) diagnosed with drug-resistant epilepsy (DRE; n = 14) or glucose transporter type 1 deficiency syndrome (GLUT1-DS; n = 20). All the e-mails were evaluated analyzing their frequency and content at 3, 6 and 12 months. Three families never sent e-mails. A median of 36.0 (IQR 23.0–64.0) e-mails per family were sent during the 12 follow-up months by the 31 patients. GLUT1-DS patients sent a greater number of e-mails than the DRE group (median 39.0 (IQR 25.5–56.5) vs. median 26.0 (IQR 19.0–65.0)). At the end of the follow-up period, a greater number of e-mails had been exchanged between the nutritional team and the families belonging to the group that increased its linear growth (median 83.5; IQR 48.0–102.0), compared to the other ones. Constant remote monitoring by e-mail could be a feasible and effective way for a better cKD management
A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot
NEUROD2, encoding the neurogenic differentiation factor 2, is essential for neurodevelopment. To date, heterozygous missense variants in this gene have been identified in eight patients (from six unrelated families) with epileptic encephalopathy and developmental delay