Early Intervention Guided by the General Movements Examination at Term Corrected Age-Short Term Outcomes.

Background And Aim: The early identification of the former premature neonates at risk of neurologic sequelae could lead to early intervention and a better prognosis. This pilot study aimed to investigate whether the General Movement patterns observed at term-equivalent age in former premature infants could serve as predictors for guiding early intervention and improving prognosis.

Materials And Methods: In a population of 44 premature neonates (mean gestational age 33.

Safety and recommendations for vaccinations of children with inborn errors of metabolism.

Inborn errors of metabolism (IEM) are genetic disorders due to a defective metabolic pathway. The incidence of each disorder is variable and depends on the respective population. Some disorders such as urea cycle disorders (UCD) and organic acidurias, pose a high risk for a metabolic crisis culminating in a life-threatening event, especially during infections; thus, vaccines may play a crucial role in prevention.

Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene.

Objective: Autosomal recessive pathogenic variants of the SLC13A5 gene are associated with severe neonatal epilepsy, developmental delay, and tooth hypoplasia/hypodontia. We report on 14 additional patients and compare their phenotypic features to previously published patients to identify the clinical hallmarks of this disorder.

Methods: We collected clinical features of 14 patients carrying biallelic variants in SLC13A5 and performed a PubMed search to identify previously published patients.

The training and organization of Paediatric Neurology in Europe: Special report of the European Paediatric Neurology Society & Committee of National Advisors.

Background: Paediatric Neurology (PN) is a discipline focused on diagnosis, comprehensive management and research into diseases of the central and peripheral nervous system from fetal life to transition into adulthood. The European Paediatric Neurology Society first designed and published the European PN training programme in the European Paediatric Neurology Syllabus in 2002. This was important in gaining recognition for the sub-specialty from the European Academy of Paediatrics and the European Academy of Neurology and in 2003 PN was recognized as a sub-specialty of paediatrics and neurology by the Board of the European Union of Medical Specialties.

Testing blood and CSF in people with epilepsy: a practical guide.

Laboratory investigations, whilst not essential to the diagnosis of seizures or of epilepsy, can be fundamental to determining the cause and guiding management. Over 50% of first seizures have an acute symptomatic cause, including a range of metabolic, toxic or infectious cause. The same triggers can precipitate status epilepticus, either de novo or as part of a deterioration in control in individuals with established epilepsy.

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.

Background: Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor disability resulting from cerebral hypothyroidism and chronic peripheral thyrotoxicosis. We sought to systematically assess the phenotypic characteristics and natural history of patients with MCT8 deficiency.

Methods: We did an international, multicentre, cohort study, analysing retrospective data from Jan 1, 2003, to Dec 31, 2019, from patients with MCT8 deficiency followed up in 47 hospitals in 22 countries globally.

A clinical diagnostic algorithm for early onset cerebellar ataxia.

Early onset cerebellar Ataxia (EOAc) comprises a large group of rare heterogeneous disorders. Determination of the underlying etiology can be difficult given the broad differential diagnosis and the complexity of the genotype-phenotype relationships. This may change the diagnostic work-up into a time-consuming, costly and not always rewarding task.

Genetic heterogeneity in infantile spasms.

Infantile spasms (IS) is a developmental and epileptic encephalopathy with heterogeneous etiologies including many genetic causes. Genetic studies have identified pathogenic variants in over 30 genes as causes of IS. Many of these genetic causes are extremely rare, with only one reported incidence in an individual with IS.

Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial.

Background: Deficiency of the thyroid hormone transporter monocarboxylate transporter 8 (MCT8) causes severe intellectual and motor disability and high serum tri-iodothyronine (T) concentrations (Allan-Herndon-Dudley syndrome). This chronic thyrotoxicosis leads to progressive deterioration in bodyweight, tachycardia, and muscle wasting, predisposing affected individuals to substantial morbidity and mortality. Treatment that safely alleviates peripheral thyrotoxicosis and reverses cerebral hypothyroidism is not yet available.

De novo variants in neurodevelopmental disorders with epilepsy.

Epilepsy is a frequent feature of neurodevelopmental disorders (NDDs), but little is known about genetic differences between NDDs with and without epilepsy. We analyzed de novo variants (DNVs) in 6,753 parent-offspring trios ascertained to have different NDDs. In the subset of 1,942 individuals with NDDs with epilepsy, we identified 33 genes with a significant excess of DNVs, of which SNAP25 and GABRB2 had previously only limited evidence of disease association.

Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations.

Biallelic mutations in the RTTN gene have been reported in association with microcephaly, short stature, developmental delay and malformations of cortical development. RTTN mutations have previously shown to link aberrant ciliary function with abnormal development and organization of the human cerebral cortex. We here report three individuals from two unrelated families with novel mutations in the RTTN gene.

Expanding the clinical spectrum of biallelic ZNF335 variants.

ZNF335 plays an essential role in neurogenesis and biallelic variants in ZNF335 have been identified as the cause of severe primary autosomal recessive microcephaly in 2 unrelated families. We describe, herein, 2 additional affected individuals with biallelic ZNF335 variants, 1 individual with a homozygous c.1399 T > C, p.

Punctate white matter lesions in full-term infants with neonatal seizures associated with SLC13A5 mutations.

Introduction: Early-onset epileptic encephalopathy caused by biallelic SLC13A5 mutations is characterized by seizure onset in the first days of life, refractory epilepsy and developmental delay. Little detailed information about the brain MRI features is available in these patients.

Methods: Observational study describing the neuro-imaging findings in eight patients (five families) with mutations in the SLC13A5 gene.

Testing patients during seizures: A European consensus procedure developed by a joint taskforce of the ILAE - Commission on European Affairs and the European Epilepsy Monitoring Unit Association.

There is currently no international consensus procedure for performing comprehensive periictal testing of patients in the epilepsy monitoring units (EMUs). Our primary goal was to develop a standardized procedure for managing and testing patients during and after seizures in EMUs. The secondary goal was to assess whether it could be implemented in clinical practice (feasibility).

Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.

Genetic generalized epilepsy (GGE), formerly known as idiopathic generalized epilepsy, is the most common form of epilepsy and is thought to have predominant genetic etiology. GGE are clinically characterized by absence, myoclonic, or generalized tonic-clonic seizures with electroencephalographic pattern of bilateral, synchronous, and symmetrical spike-and-wave discharges. Despite their strong heritability, the genetic basis of generalized epilepsies remains largely elusive.

Non-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping have Severe Phenotype.

Background: Exon skipping therapy is an emerging approach in Duchenne Muscular Dystrophy (DMD). Antisense oligonucleotides that induce skipping of exon 51, 44, 45, or 53 are currently being evaluated in clinical trials. These trials were designed on the basis of data available in general DMD population.

The Daily Functionality in a Major Depressive Episode Cohort of Romanian Patients - a Non-Interventional Study.

Objectives: The aim of this non-interventional, investigator driven study was to assess the functionality of patients with major depression under treatment with agomelatine in real life clinical practice.

Material And Methods: The study was multicenter, non-interventional and evaluated the functionality of the adult patients with a DSM-IV diagnosis of MDD (single or recurrent episode and no treatment in the previous 6 months). It took place in Romania and it was a 10-weeks study.

Subthalamic nucleus involvement in children: a neuroimaging pattern-recognition approach.

A neuroimaging-based pattern-recognition approach has been shown to be very helpful in the diagnosis of a wide range of pediatric central nervous system diseases. Few disorders may selectively affect the subthalamic nucleus in children including Leigh syndrome, succinic semialdehyde dehydrogenase deficiency, kernicterus, chronic end-stage liver failure and near total hypoxic-ischemic injury in the full-term neonates. The consideration of the constellation of clinical history and findings as well as additional neuroimaging findings should allow planning the appropriate diagnostic tests to make the correct diagnosis in children with involvement of the subthalamic nucleus.

Are absences truly generalized seizures or partial seizures originating from or predominantly involving the pre-motor areas? Some clinical and theoretical observations and their implications for seizure classification.

In both the current (1981) ILAE Classification of Epileptic Seizures and the recently Proposed Diagnostic Scheme for People with Epilepsy and Epileptic Seizures, typical absence seizures are defined as generalized seizures, implying widespread subcortical and cortical neuronal involvement from onset with impairment of consciousness as the clinical hallmark. Clinical observations from three patients and clinical and experimental data from the literature suggest, however, that: (1) consciousness is retained in many typical absences; (2) the true hallmark of these seizures is arrest of motor initiation due to disturbance of pre-motor area frontal-lobe function; (3) typical absences and partial seizures from these areas may show similar clinical and EEG features and involve the same neuronal circuits. The neuronal system primarily involved in these seizures consists of a relatively limited cortico-thalamo-cortical circuit, including the reticular thalamic nucleus, the thalamocortical relay and the predominantly anterior and mesial frontal cerebral cortex, with the cortex probably acting as the primary driving site.