Publications by authors named "Maria J Miranda"

26 Publications

  • Page 1 of 1

Socioeconomic inequalities in low birth weight risk before and during the COVID-19 pandemic in Argentina: A cross-sectional study.

Lancet Reg Health Am 2021 Oct 21;2:100049. Epub 2021 Aug 21.

Hospital Italiano, Córdoba, Argentina.

Background: The coronavirus disease 2019 (COVID-19) pandemic may have exacerbated existing socioeconomic inequalities in health. In Argentina, public hospitals serve the poorest uninsured segment of the population, while private hospitals serve patients with health insurance. This study aimed to assess whether socioeconomic inequalities in low birth weight (LBW) risk changed during the first wave of the COVID-19 pandemic.

Methods: This multicenter cross-sectional study included 15929 infants. A difference-in-difference (DID) analysis of socioeconomic inequalities between public and private hospitals in LBW risk in a pandemic cohort (March 20 to July 19, 2020) was compared with a prepandemic cohort (March 20 to July 19, 2019) by using medical records obtained from ten hospitals. Infants were categorized by weight as LBW < 2500 g, very low birth weight (VLBW) < 1500 g and extremely low birth weight (ELBW) < 1000 g. Log binomial regression was performed to estimate risk differences with an interaction term representing the DID estimator. Covariate-adjusted models included potential perinatal confounders.

Findings: Of the 8437 infants in the prepandemic cohort, 4887 (57•9%) were born in public hospitals. The pandemic cohort comprised 7492 infants, 4402 (58•7%) of whom were born in public hospitals. The DID estimators indicated no differences between public versus private hospitals for LBW risk (-1•8% [95% CI -3•6, 0•0]) and for ELBW risk (-0•1% [95% CI -0•6, 0•3]). Significant differences were found between public versus private hospitals in the DID estimators (-1•2% [95% CI, -2•1, -0•3]) for VLBW risk. The results were comparable in covariate-adjusted models.

Interpretation: In this study, we found evidence of decreased disparities between public and private hospitals in VLBW risk. Our findings suggest that measures that prioritize social spending to protect the most vulnerable pregnant women during the pandemic contributed to better birth outcomes.

Funding: No funding was secured for this study.
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http://dx.doi.org/10.1016/j.lana.2021.100049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8495179PMC
October 2021

[Somatic reasons for acute psychiatric disorders in children and adolescents].

Ugeskr Laeger 2020 11;182(48)

Psychotic symptoms such as hallucinations and delusions can be the result of a primary psychiatric disorder. However, they may also be the manifestation of various underlying somatic diseases. Rapid diagnosis and treatment are crucial to the outcome of the prognosis. A common evidence-based diagnostic approach during the initial phase has yet to be established, but a comprehensive medical evaluation may detect treatable causes. This review presents several potential diagnostic considerations for children and adolescents with psychotic symptoms based on novel systematic reviews and guidelines.
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November 2020

[Organic aetiology of acute psychotic symptoms in children less than 18 years old].

Ugeskr Laeger 2020 11;182(47)

While psychotic symptoms may be the result of a primary psychiatric disorder, they can also be the presenting symptom of an underlying somatic disease. The organic aetiology can vary from benign and transient to severe and enduring disorders. Early diagnosis and treatment can be crucial to the prognosis, though potentially challenging as well, given that several of the organic aetiologies are rare and therefore difficult to identify. This case report describes two pediatric patients with psychiatric manifestations as a result of 22q11.2 deletion syndrome and anti-N-methyl-D-aspartate receptor encephalitis.
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November 2020

[Infantile spasms].

Ugeskr Laeger 2020 04;182(15)

Infantile spasms (IS) is a severe developmental and epileptic encephalopathy, occurring mainly in children aged 3-18 months. IS have multiple aetiologies, and the treatment differs accordingly. Early diagnosis and treatment may improve the outcome, but many patients are initially misdiagnosed. Evaluation includes seizure semiology, electroencephalography, cerebral magnetic resonance imaging and genetic and metabolic testing. Treatment varies among centres, and initial treatment may include vigabatrin and/or corticosteroids. In recent years, as summarised in this review, knowledge has substantially increased regarding genetic aetiologies and treatment regimens.
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April 2020

The spectrum of intermediate SCN8A-related epilepsy.

Epilepsia 2019 05 10;60(5):830-844. Epub 2019 Apr 10.

Neuroscience Department, Children's Hospital Anna Meyer, University of Florence, Florence, Italy.

Objective: Pathogenic variants in SCN8A have been associated with a wide spectrum of epilepsy phenotypes, ranging from benign familial infantile seizures (BFIS) to epileptic encephalopathies with variable severity. Furthermore, a few patients with intellectual disability (ID) or movement disorders without epilepsy have been reported. The vast majority of the published SCN8A patients suffer from severe developmental and epileptic encephalopathy (DEE). In this study, we aimed to provide further insight on the spectrum of milder SCN8A-related epilepsies.

Methods: A cohort of 1095 patients were screened using a next generation sequencing panel. Further patients were ascertained from a network of epilepsy genetics clinics. Patients with severe DEE and BFIS were excluded from the study.

Results: We found 36 probands who presented with an SCN8A-related epilepsy and normal intellect (33%) or mild (61%) to moderate ID (6%). All patients presented with epilepsy between age 1.5 months and 7 years (mean = 13.6 months), and 58% of these became seizure-free, two-thirds on monotherapy. Neurological disturbances included ataxia (28%) and hypotonia (19%) as the most prominent features. Interictal electroencephalogram was normal in 41%. Several recurrent variants were observed, including Ile763Val, Val891Met, Gly1475Arg, Gly1483Lys, Phe1588Leu, Arg1617Gln, Ala1650Val/Thr, Arg1872Gln, and Asn1877Ser.

Significance: With this study, we explore the electroclinical features of an intermediate SCN8A-related epilepsy with mild cognitive impairment, which is for the majority a treatable epilepsy.
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http://dx.doi.org/10.1111/epi.14705DOI Listing
May 2019

[Negative anti-myelin oligodendrocyte glycoprotein antibodies in a boy with acquired demyelinating syndrome in the CNS].

Ugeskr Laeger 2019 Mar;181(11)

Acquired demyelinating syndromes are inflammatory demyelinating CNS diseases. They can be either monophasic, such as acute disseminated encephalomyelitis (ADEM), or relapsing, such as multiple sclerosis (MS). In children, ADEM is more common before puberty, whereas MS becomes increasingly more frequent during puberty. This is a case report of a 13-year-old boy with acute onset of a spinal cord syndrome and possible encephalopathy. We discuss relevant diagnostic workup including testing for antibodies against myelin oligodendrocyte globulin and aquaporin-4, treatment, and risk of MS.
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March 2019

The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.

Ann Neurol 2018 05 30;83(5):926-934. Epub 2018 Apr 30.

Department of Medical Genetics, Lyon University Hospital and GENDEV team CNRS UMR 5292, INSERM U1028, CRNL, and University Claude Bernard Lyon 1, GHE, Lyon, France.

Objective: Cut homeodomain transcription factor CUX2 plays an important role in dendrite branching, spine development, and synapse formation in layer II to III neurons of the cerebral cortex. We identify a recurrent de novo CUX2 p.Glu590Lys as a novel genetic cause for developmental and epileptic encephalopathy (DEE).

Methods: The de novo p.Glu590Lys variant was identified by whole-exome sequencing (n = 5) or targeted gene panel (n = 4). We performed electroclinical and imaging phenotyping on all patients.

Results: The cohort comprised 7 males and 2 females. Mean age at study was 13 years (0.5-21.0). Median age at seizure onset was 6 months (2 months to 9 years). Seizure types at onset were myoclonic, atypical absence with myoclonic components, and focal seizures. Epileptiform activity on electroencephalogram was seen in 8 cases: generalized polyspike-wave (6) or multifocal discharges (2). Seizures were drug resistant in 7 or controlled with valproate (2). Six patients had a DEE: myoclonic DEE (3), Lennox-Gastaut syndrome (2), and West syndrome (1). Two had a static encephalopathy and genetic generalized epilepsy, including absence epilepsy in 1. One infant had multifocal epilepsy. Eight had severe cognitive impairment, with autistic features in 6. The p.Glu590Lys variant affects a highly conserved glutamine residue in the CUT domain predicted to interfere with CUX2 binding to DNA targets during neuronal development.

Interpretation: Patients with CUX2 p.Glu590Lys display a distinctive phenotypic spectrum, which is predominantly generalized epilepsy, with infantile-onset myoclonic DEE at the severe end and generalized epilepsy with severe static developmental encephalopathy at the milder end of the spectrum. Ann Neurol 2018;83:926-934.
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http://dx.doi.org/10.1002/ana.25222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6021218PMC
May 2018

[Diagnosis of seizures in the neonatal period].

Ugeskr Laeger 2018 Apr;180(14)

Seizures in the neonatal period are practically always a symptom of an underlying illness. Quick diagnosis and treatment can be crucial to the outcome. A few aetiological factors account for most of the seizures. However, a significant number is caused by rare conditions such as metabolic or genetic disorders, and arriving at the right diagnosis can be challenging. Previous studies indicate, that a standardized algorithm clearly improves the diagnostic success. This article presents an overview of aetiological factors and an algorithm for a standardized work-up.
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April 2018

[The effects of ketogenic diet are numerous].

Ugeskr Laeger 2018 Mar;180(10)

Ketogenic diet (KD) has for a long time been known as an effective treatment for medically intractable epilepsy. However, the underlying mechanism is still unknown. Recent work indicates, that several mechanisms exist for KD, including neurotransmitter regulation, glucose restriction, effects of fatty acids, altered mitochondrial function and mammalian target of rapamycin pathway. Revealing the mechanisms of KD provides a better insight in the pathophysiology of epilepsy and helps the development of new treatments of epilepsy and other neurological disorders.
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March 2018

[Scientific evidence on treatment and prognosis of childhood absence epilepsy].

Ugeskr Laeger 2017 Mar;179(13)

Until now, ethosuximide (ESM), sodium valproate (VPA) and lamotrigine have been considered the drugs of choice in the management of childhood absence epilepsy, and there has been no high-validated evidence to distinguish their effects. New research shows, however, that while VPA and ESM are equally effective, ESM is the best tolerated of the two drugs, when considering cognitive adverse effects. This is of major importance, as cognitive comorbidities can be dire in childhood absence epilepsy, possibly affecting the psychosocial prognosis of the patients. More research is needed in this area.
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March 2017

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Brain 2017 May;140(5):1316-1336

CeGaT - Center for Genomics and Transcriptomics, Tübingen, Germany.

Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71 patients and review 130 previously reported patients. We found that (i) encephalopathies with infantile/childhood onset epilepsies (≥3 months of age) occur almost as often as those with an early infantile onset (<3 months), and are thus more frequent than previously reported; (ii) distinct phenotypes can be seen within the late onset group, including myoclonic-atonic epilepsy (two patients), Lennox-Gastaut not emerging from West syndrome (two patients), and focal epilepsies with an electrical status epilepticus during slow sleep-like EEG pattern (six patients); and (iii) West syndrome constitutes a common phenotype with a major recurring mutation (p.Arg853Gln: two new and four previously reported children). Other known phenotypes include Ohtahara syndrome, epilepsy of infancy with migrating focal seizures, and intellectual disability or autism without epilepsy. To assess the response to antiepileptic therapy, we retrospectively reviewed the treatment regimen and the course of the epilepsy in 66 patients for which well-documented medical information was available. We find that the use of sodium channel blockers was often associated with clinically relevant seizure reduction or seizure freedom in children with early infantile epilepsies (<3 months), whereas other antiepileptic drugs were less effective. In contrast, sodium channel blockers were rarely effective in epilepsies with later onset (≥3 months) and sometimes induced seizure worsening. Regarding the genetic findings, truncating mutations were exclusively seen in patients with late onset epilepsies and lack of response to sodium channel blockers. Functional characterization of four selected missense mutations using whole cell patch-clamping in tsA201 cells-together with data from the literature-suggest that mutations associated with early infantile epilepsy result in increased sodium channel activity with gain-of-function, characterized by slowing of fast inactivation, acceleration of its recovery or increased persistent sodium current. Further, a good response to sodium channel blockers clinically was found to be associated with a relatively small gain-of-function. In contrast, mutations in patients with late-onset forms and an insufficient response to sodium channel blockers were associated with loss-of-function effects, including a depolarizing shift of voltage-dependent activation or a hyperpolarizing shift of channel availability (steady-state inactivation). Our clinical and experimental data suggest a correlation between age at disease onset, response to sodium channel blockers and the functional properties of mutations in children with SCN2A-related epilepsy.
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http://dx.doi.org/10.1093/brain/awx054DOI Listing
May 2017

[Tic suppression is a new evidence-based non-farmacological treatment of chronic tic disorder].

Ugeskr Laeger 2017 Mar;179(10)

Chronic tic disorder and Tourette syndrome are both chronic and impairing neurobiological disorders starting in childhood with a prevalence between 0.4 and 1.6%. Traditionally, pharmacological therapies have been first-line treatment but are often associated with adverse effects. Recently behavioural therapy has shown to be effective in treating tics and today both habit reversal (HR) and exposure and response prevention (ERP) are recommended as first-line treatments. HR and ERP are now available for Danish patients. This article describes the evidence and recommendations for both therapies.
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March 2017

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.

Mol Syndromol 2016 Sep 20;7(4):210-219. Epub 2016 Aug 20.

Danish Epilepsy Centre, Filadelfia, Dianalund, Denmark.

In recent years, several genes have been causally associated with epilepsy. However, making a genetic diagnosis in a patient can still be difficult, since extensive phenotypic and genetic heterogeneity has been observed in many monogenic epilepsies. This study aimed to analyze the genetic basis of a wide spectrum of epilepsies with age of onset spanning from the neonatal period to adulthood. A gene panel targeting 46 epilepsy genes was used on a cohort of 216 patients consecutively referred for panel testing. The patients had a range of different epilepsies from benign neonatal seizures to epileptic encephalopathies (EEs). Potentially causative variants were evaluated by literature and database searches, submitted to bioinformatic prediction algorithms, and validated by Sanger sequencing. If possible, parents were included for segregation analysis. We identified a presumed disease-causing variant in 49 (23%) of the 216 patients. The variants were found in 19 different genes including and . Patients with neonatal-onset epilepsies had the highest rate of positive findings (57%). The overall yield for patients with EEs was 32%, compared to 17% among patients with generalized epilepsies and 16% in patients with focal or multifocal epilepsies. By the use of a gene panel consisting of 46 epilepsy genes, we were able to find a disease-causing genetic variation in 23% of the analyzed patients. The highest yield was found among patients with neonatal-onset epilepsies and EEs.
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http://dx.doi.org/10.1159/000448369DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073625PMC
September 2016

Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling.

JIMD Rep 2017 8;33:69-77. Epub 2016 Sep 8.

Department of Clinical Genetics 4062, Juliane Marie Center, University Hospital Copenhagen, Blegdamsvej 9, 2100, Copenhagen, Denmark.

Isolated complex II deficiency is a rare cause of mitochondrial disease and bi-allelic mutations in SDHB have been identified in only a few patients with complex II deficiency and a progressive neurological phenotype with onset in infancy. On the other hand, heterozygous SDHB mutations are a well-known cause of familial paraganglioma/pheochromocytoma and renal cell cancer. Here, we describe two additional patients with respiratory chain deficiency due to bi-allelic SDHB mutations. The patients' clinical, neuroradiological, and biochemical phenotype is discussed according to current knowledge on complex II and SDHB deficiency and is well in line with previously described cases, thus confirming the specific neuroradiological presentation of complex II deficiency that recently has emerged. The patients' genotype revealed one novel SDHB mutation, and one SDHB mutation, which previously has been described in heterozygous form in patients with familial paraganglioma/pheochromocytoma and/or renal cell cancer. This is only the second example in the literature where one specific SDHx mutation is associated with both recessive mitochondrial disease in one patient and familial paraganglioma/pheochromocytoma in others. Due to uncertainties regarding penetrance of different heterozygous SDHB mutations, we argue that all heterozygous SDHB mutation carriers identified in relation to SDHB-related leukoencephalopathy should be referred to relevant surveillance programs for paraganglioma/pheochromocytoma and renal cell cancer. The diagnosis of complex II deficiency due to SDHB mutations therefore raises implications for genetic counselling that go beyond the recurrence risk in the family according to an autosomal recessive inheritance.
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http://dx.doi.org/10.1007/8904_2016_582DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413450PMC
September 2016

Letter to the editor: confirming neonatal seizure and late onset ataxia in SCN2A Ala263Val.

J Neurol 2016 Jul 9;263(7):1459-60. Epub 2016 May 9.

The Danish Epilepsy Centre, Filadelfia, 4293, Dianalund, Denmark.

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http://dx.doi.org/10.1007/s00415-016-8149-5DOI Listing
July 2016

Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development.

Mol Cytogenet 2016 4;9:11. Epub 2016 Feb 4.

Department of Clinical Genetics, Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital Rigshospitalet, Glostrup, Denmark.

Background: IInterstitial 21q deletions can cause a wide spectrum of symptoms depending on the size and the location of the deletion. It has previously been suggested that the long arm of chromosome 21 can be divided into three regions based on the clinical severity of the patients and deletion of the region from 32.3 Mb to 37.1 Mb was more crucial than the deletion of other regions.

Case Presentation: In this study we describe a female patient with dysmorphic features, hepatomegaly, thick myocardium and psychomotor delay. Conventional karyotyping was initially interpreted as full monosomy 21, but subsequent chromosome microarray analysis suggested an approximately 18 Mb partial monosomy. Re-evaluation of the karyotype and fluorescence in situ hybridization revealed deletion of the proximal 21q11.2-q22.11 segment and insertion of 21q22.11-qter to 12qter. The deletion of the present case overlaps with two of the proposed regions including part of the proposed crucial region.

Conclusions: This report emphasizes the relevance of investigating suspected full monosomies with high resolution methods and FISH in order to investigate the extent of the deletion and the presence of more complex rearrangements.
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http://dx.doi.org/10.1186/s13039-016-0220-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4743331PMC
February 2016

[An algorithm for diagnosis of the floppy infant].

Ugeskr Laeger 2015 Nov;177(46):V05150378

The term "floppy infant" is used for describing children presenting with muscle hypotonia at or shortly after birth. These floppy infants are usually a diagnostic challenge due to the many rare and genetic causes of hypotonia. It is common to start by classifying the hypotonia as peripheral or central, but even from here the path to a diagnosis can be long. This article reviews the literature, mostly retrospective studies done on floppy infants and presents a new simplified algorithm to help guide the diagnostics of the hypotonic children.
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November 2015

[Pontocerebellar hypoplasia is a rare cause of floppy infant syndrome].

Ugeskr Laeger 2015 Sep;177(40):V05150380

The hypotone neonate, floppy infant, often proves to be a diagnostic challenge, as the causes of floppy infant syndrome are many and often rare. In this case story a floppy girl was diagnosed with the rare, autosomal recessive disease pontocerebellar hypoplasia type I. The tests for the most common causes of floppy infant syndrome showed nothing abnormal, but an array comparative genomic hybridization test gave information of loss of heterozygosity. This helped to narrow the list of plausible diagnoses and eventually led to the diagnosis of pontocerebellar hypoplasia type I.
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September 2015

Alternative diets to the classical ketogenic diet--can we be more liberal?

Epilepsy Res 2012 Jul 6;100(3):278-85. Epub 2012 Jul 6.

Herlev University Hospital, Herlev, Denmark.

The ketogenic diet (KD), a high-fat, adequate protein, low-carbohydrate diet has been used since 1921 for the treatment of severe medically refractory epilepsy. In the past 15 years, the use of the KD has expanded enormously and a huge amount of clinical evidence of its efficacy is available. The classical KD is however restrictive and therefore alternative more liberal varieties of the classical KD have been developed within the last 8 years. The purpose of this report is to summarise the principles and evidence of effectiveness of the alternative ketogenic diets: Medium Chain Triglyceride (MCT)-KD, modified Atkins diet (MAD) and low glycaemic index treatment (LGIT), compared to the classical KD. The clinical evidence to date suggests that the more liberal versions of the classical KD such as MCT KD, MAD and LGIT have an efficacy close to the classical KD; however, no RCT data are available for MAD and LGIT. This evidence suggests that factors such as age, epilepsy type, lifestyle and resources are important factors in deciding which diet we should start a patient on. This report intends to summarise guidelines based on the evidence available.
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http://dx.doi.org/10.1016/j.eplepsyres.2012.06.007DOI Listing
July 2012

Will seizure control improve by switching from the modified Atkins diet to the traditional ketogenic diet?

Epilepsia 2010 Dec 10;51(12):2496-9. Epub 2010 Nov 10.

Neurology, The Johns Hopkins University, Baltimore, Maryland, USA.

It has been reported that children can maintain seizure control when the ketogenic diet (KD) is transitioned to the less-restrictive modified Atkins diet (MAD). What is unknown, however, is the likelihood of additional seizure control from a switch from the MAD to the KD. Retrospective information was obtained from 27 patients who made this dietary change from four different institutions. Ten (37%) patients had ≥10% additional seizure reduction with the KD over the MAD, of which five became seizure-free. The five children who did not improve on the MAD failed to improve when transitioned to the KD. A higher incidence of improvement with the KD occurred for those with myoclonic-astatic epilepsy (70% vs. 12% for all other etiologies, p = 0.004), including all who became seizure-free. These results suggest that the KD probably represents a "higher dose" of dietary therapy than the MAD, which may particularly benefit those with myoclonic-astatic epilepsy.
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http://dx.doi.org/10.1111/j.1528-1167.2010.02774.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4040500PMC
December 2010

Danish study of a modified Atkins diet for medically intractable epilepsy in children: can we achieve the same results as with the classical ketogenic diet?

Seizure 2011 Mar 3;20(2):151-5. Epub 2010 Dec 3.

Department of Paediatrics, Danish Epilepsy Centre, Filadelfia, Dianalund, Denmark.

Modified Atkins diet (MAD) is a less restrictive variety of the classical ketogenic diet (KD), used for treating patients with medically resistant epilepsy. There are only few reports comparing the two types of diets in terms of seizure reduction and tolerability. We compared the effect of a MAD evaluated prospectively on 33 consecutive children with medically resistant epilepsy, with a group of 50 patients, previously treated with KD. Patients who had >50% seizure reduction were considered responders. After 3 months on the MAD, 17 patients (52%) were responders, including 14 (42%) who had >90% seizure reduction. After 6 months, 13 patients (39%) were responders. Seventeen patients (52%) remained on the MAD at least 12 months with excellent overall tolerance and compliance, including 9 patients (27%) who were responders, 4 of them (12%) having >90% seizure reduction. Although there was a trend for higher incidence of responders in the KD group, this failed to reach the level of significance: after 6 months 39% on MAD and 60% on KD were responders. However, this trend was not observed when the two groups were adjusted for difference in age (patients in the MAD group were older than the KD group). In conclusion, our experience suggests that the MAD is similarly effective as the KD in reducing seizure frequency in children with medically resistant epilepsy.
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http://dx.doi.org/10.1016/j.seizure.2010.11.010DOI Listing
March 2011

Motion correction of single-voxel spectroscopy by independent component analysis applied to spectra from nonanesthetized pediatric subjects.

Magn Reson Med 2009 Nov;62(5):1147-54

Danish Research Centre for Magnetic Resonance, Hvidovre, Denmark.

For single-voxel spectroscopy, the acquisition of the spectrum is typically repeated n times and then combined with a factor sqrt[n] in order to improve the signal-to-noise ratio. In practice, the acquisitions are not only affected by random noise but also by physiologic motion and subject movements. Since the influence of physiologic motion such as cardiac and respiratory motion on the data is limited, it can be compensated for without data loss. Individual acquisitions hampered by subject movements, on the other hand, need to be rejected if no correction or compensation is possible. If the individual acquisitions are stored, it is possible to identify and reject the motion-disturbed acquisitions before averaging. Several automatic algorithms were investigated using a dataset of spectra from nonanesthetized infants with a gestational age of 40 weeks. Median filtering removed most subject movement artifacts, but at the cost of increased sensitivity to random noise. Neither independent component analysis nor outlier identification with multiple comparisons has this problem. These two algorithms are novel in this context. The peak height values of the metabolites were increased compared to the mean of all acquisitions for both methods, although primarily for the ICA method.
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http://dx.doi.org/10.1002/mrm.22129DOI Listing
November 2009

Ketogenic diet in the treatment of refractory continuous spikes and waves during slow sleep.

Epilepsia 2009 May 12;50(5):1127-31. Epub 2009 Feb 12.

Childrens Department, Danish Epilepsy Centre, Dianalund, Denmark.

Purpose: To evaluate the effect of the ketogenic diet on electroclinical characteristics and cognitive function in children with continuous spikes and waves during slow sleep (CSWS).

Methods: Five children (four boys, one girl) aged between 8 and 13 years with CSWS refractory to conventional antiepileptic drugs (AEDs), including levetiracetam, and steroids were included. The prospective electroclinical assessment was performed prior to the ketogenic diet and once every 6 months post initiation during the 2-year period. All children underwent neuropsychological testing prior to the ketogenic diet and four of the children again 12 months after the diet's introduction. In case 4 the testing has been performed after 7 months and the diet was withdrawn after 9 months because of the lack of efficacy and the parent's wishes. In two patients the cognitive functions were also evaluated after 24 months since the diet's initiation. During the period on the ketogenic diet the concomitant AED treatment was unchanged.

Results: Electrographic evaluation after 24 months on the ketogenic diet showed CSWS resolution in one patient, mild decrease of the spike-wave index in one, and lack of response in three patients. The ketogenic diet did not influence the neuropsychological outcome, and intelligence quotient (IQ) scores remained low at the end of the follow-up period. However, in two patients an improvement in attention and behavior was demonstrated.

Discussion: This is the first study evaluating the efficacy of the ketogenic diet in children with CSWS. Five presented cases were refractory to AEDs and steroids. Only one case responded with complete CSWS disappearance; in one the effect of the ketogenic diet was partial and intermittent, whereas in three patients no response has been observed. These results show that the ketogenic diet did not appear to influence the neuropsychological outcome; however, the absence of a control group makes it impossible to conclude with certainty.
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http://dx.doi.org/10.1111/j.1528-1167.2008.01958.xDOI Listing
May 2009

Accelerated cerebral white matter development in preterm infants: a voxel-based morphometry study with diffusion tensor MR imaging.

Neuroimage 2008 Jul 4;41(3):728-34. Epub 2008 Mar 4.

Department of Psychiatry and Clinical Psychobiology, Faculty of Medicine, University of Barcelona, C/ Casanova 143, 08036, Barcelona, Spain.

Twenty-seven preterm infants were compared to 10 full-term infants at term equivalent age using a voxel-based analysis of diffusion tensor imaging of the brain. Preterm infants exhibited higher fractional anisotropy values, which may suggest accelerated maturation, in the location of the sagittal stratum. While some earlier findings in preterm infants have suggested developmental delays, the results of this study are more consistent with accelerated white matter development, possibly as a result of increased sensorimotor stimulation in the extrauterine environment. These results are the first to suggest that the increased intensity of stimulation associated with preterm birth may advance the process of white matter maturation in the human brain. Questions remain about whether these findings reflect acceleration of the process of white matter maturation generally, or localized alterations induced specifically by activity in affected pathways.
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http://dx.doi.org/10.1016/j.neuroimage.2008.02.029DOI Listing
July 2008

Noninvasive measurements of regional cerebral perfusion in preterm and term neonates by magnetic resonance arterial spin labeling.

Pediatr Res 2006 Sep 20;60(3):359-63. Epub 2006 Jul 20.

Danish Research Centre for Magnetic Resonance, Copenhagen University Hospital, Hvidovre, Denmark.

Magnetic resonance arterial spin labeling (ASL) at 3 Tesla has been investigated as a quantitative technique for measuring regional cerebral perfusion (RCP) in newborn infants. RCP values were measured in 49 healthy neonates: 32 preterm infants born before 34 wk of gestation and 17 term-born neonates. Examinations were performed on unsedated infants at postmenstrual age of 39-40 wk in both groups. Due to motion, reliable data were obtained from 23 preterm and 6 term infants. Perfusion in the basal ganglia (39 and 30 mL/100 g/min for preterm and term neonates, respectively) was significantly higher (p < 0.0001) than in cortical gray matter (19 and 16 mL/100 g/min) and white matter (15 and 10 mL/100 g/min), both in preterm neonates at term-equivalent age and in term neonates. Perfusion was significantly higher (p = 0.01) in the preterm group than in the term infants, indicating that RCP may be influenced by developmental and postnatal ages. This study demonstrates, for the first time, that noninvasive ASL at 3T may be used to measure RCP in healthy unsedated preterm and term neonates. ASL is, therefore, a viable tool that will allow serial studies of RCP in high-risk neonates.
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http://dx.doi.org/10.1203/01.pdr.0000232785.00965.b3DOI Listing
September 2006
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