Search

Background: Alternating of Childhood (AHC) is an uncommon and complex disorder characterized by age of onset before 18 months with recurrent hemiplegia of one or either sides of the body or quadriplegia. The disorder is mainly caused by mutations in ATP1A3 gene, and to a lesser extent in ATP1A2 gene. In AHC neurological co-morbidities are various and frequently reported including developmental delay, epilepsy, tonic or dystonic spells, nystagmus,autonomic manifestations with intrafamilial variability. Case presentation: Clinical and genetic findings of a couple of twins (Family 1: Case 1 and Case 2) and a couple of siblings (Family 2: Case 3 and Case 4) coming from two different Italian families affected by AHC were deeply examined. In twins of Family 1, a pathogenic variant in ATP1A3 gene (c.2318A>G) was detected. In siblings of Family 2, the younger brother showed a novel GRIN2A variant (c.3175 T > A), while the older carried the same GRIN2A variant, and two missense mutations in SCNIB (c.632 > A) and KCNQ2 (1870 G > A) genes. Clinical manifestations of the four affected children were reported along with cases of AHC drawn from the literature. Conclusions: Hemiplegic episode is only a sign even if the most remarkable of several and various neurological comorbidities in AHC affected individuals. Molecular analysis of the families here reported showed that clinical features of AHC may be also the result of an unexpected genetic heterogeneity. [ABSTRACT FROM AUTHOR]

Background: We report a study conducted in children and adolescents who are affected by primary headaches. The aim was to establish the most useful investigations for diagnosing headaches. Methods: The current study involved 300 consecutively hospitalized children and adolescents selected according to the criteria of the second edition of the International Classification of Headache Disorders. The following examinations were performed in all patients: full ophthalmologic; brain magnetic resonance imaging (MRI); electroencephalography; echocardiogram; and electrocardiogram. Dental, otorhinolaryngology, echocardiography of the supra-aortic trunks, abdominal ultrasound, and visual- and auditory-evoked potentials were carried out in patients according to the clinical signs associated with headache. Results: In a large number of cases routine laboratory analysis and neurophysiologic investigations were within the normal value when neurologic examination was normal. Electroencephalography, ophthalmologic studies and cerebral MRI are advisable as they can reveal precocious pathologic events, even in the absence of evident or alarming clinical signs. Conclusion: As widely reported in the literature, most of these investigations may be of little clinical value, but the authors reasoned that electroencephalography, ophthalmologic investigations and a cerebral MRI may be noteworthy because such studies may reveal a precocious pathologic event which can change the prognostic value of the headache. In addition, negative results on cerebral MRI may relieve the anxiety of parents and in turn may positively influence the clinical course of headache in children and adolescents. [ABSTRACT FROM AUTHOR]

Background: At the onset, differentiation between abnormal non-epileptic movements, and epileptic seizures presenting in early life is difficult as is clinical diagnosis and prognostic evaluation of the various seizure disorders presenting at this age. Seizures starting in the first year of life including the neonatal period might have a favorable course, such as in infants presenting with benign familial neonatal epilepsy, febrile seizures simplex or acute symptomatic seizures. However, in some cases, the onset of seizures at birth or in the first months of life have a dramatic evolution with severe cerebral impairment. Seizure disorders starting in early life include the "epileptic encephalopathies", a group of conditions characterized by drug resistant seizures, delayed developmental skills, and intellective disability. This group of disorders includes early infantile epileptic encephalopathy also known as Ohtahara syndrome, early myoclonic encephalopathy, epilepsy of infancy with migrating focal seizures, infantile spasms syndrome (also known as West syndrome), severe myoclonic epilepsy in infancy (also known as Dravet syndrome) and, myoclonic encephalopathies in non-progressive disorder. Here we report on seizures manifesting in the first year of life including the neonatal period. Conditions with a benign course, and those with severe evolution are presented. At this early age, clinical identification of seizures, distinction of each of these disorders, type of treatment and prognosis is particularly challenging. The aim of this report is to present the clinical manifestations of each of these disorders and provide an updated review of the conditions associated with seizures in the first year of life. [ABSTRACT FROM AUTHOR]

Objective Hypoxic–ischemic encephalopathy (HIE) is the second cause of neonatal deaths and one of the main conditions responsible for long-term neurological disability. Contrary to past belief, children with mild HIE can also experience long-term neurological sequelae. The aim of this systematic review is to determine the predictive value of long-term neurological outcome of (electroencephalogram) EEG/amplitude-integrated electroencephalogram (aEEG) in children who complained mild HIE. Study Design From a first search on PubMed, Google Scholar, and clinicalTrials.gov databases, only five articles were considered suitable for this study review. A statistical meta-analysis with the evaluation of odds ratio was performed on three of these studies. Results No correlation was found between the characteristics of the electrical activity of the brain obtained through EEG/aEEG in infants with mild HIE and subsequent neurological involvement. Conclusion EEG/aEEG monitoring in infants with mild HIE cannot be considered a useful tool in predicting their neurodevelopmental outcome, and its use for this purpose is reported as barely reliable. Key Points HIE is responsible for long-term neurological outcome, even in newborns with mild HIE. No correlation was found between EEG/aEEG trace in infants with mild HIE and neurological sequelae. Neurophysiological monitoring, in mild HIE, cannot predic neurodevelopmental outcome. [ABSTRACT FROM AUTHOR]

Methemoglobinemia (MetHb) is a rare inherited or acquired cause of cyanosis in children. Owing to its rarity, case reports and case series are mostly available in the current literature. This study reports data on a large sample of children with acquired MetHb. Data on patients admitted for acquired MetHb between January 2007 to December 2020 was extracted from the databases of five Italian pediatric emergency departments (EDs). Demographical and clinical characteristics was reported and discussed. Nineteen cases of acquired MetHb were evaluated. Ten patients (52.6%) were male and 9 (47.4%) were female. The median age was 8.23 months. The median time from trigger to symptom onset was 6 hours. Mostly, the intoxication presumptively occurred by home ingestion of contaminated food, mainly badly preserved vegetable broth. All patients were cyanotic at admission, most patients also presented tachycardia and/or tachypnea, and two patients were comatose. Antidotal therapy with methylene blue was given in 14 patients (73.7%). The median hospital stay was 2 days. All patients survived. As MetHb leads to the pathognomonic brown blood discoloration, blood gas analysis is mandatory immediately upon hospital arrival of a cyanotic patient. A correct medical history is crucial to identify the trigger and remove it. In our sample, the age onset was much lower than in the previous literature, and MetHb mainly due to ingestion of contaminated vegetable broth. Methylene blue led to a rapid recovery in all patients. Oxygen therapy may well lead to complete recovery when methemoglobin levels do not exceed 30% in asymptomatic and 20% in mildly symptomatic patients. The diagnosis and management of acquired MetHb in the emergency setting requires acknowledgment of this condition as a cause of cyanosis in the weaning child. Indeed, when promptly recognized and treated, this severe condition rapidly resolves with no significant acute sequelae. [ABSTRACT FROM AUTHOR]

Aim: The existing treatment options for neonatal seizures have expanded over the last few decades, but no consensus has been reached regarding the optimal therapeutic protocols. We systematically reviewed the available literature examining neonatal seizure treatments to clarify which drugs are the most effective for the treatment of specific neurologic disorders in newborns. Method: We reviewed all available, published, literature, identified using PubMed (published between August 1949 and November 2020), that focused on the pharmacological treatment of electroencephalogram (EEG)-confirmed neonatal seizures. Results: Our search identified 427 articles, of which 67 were included in this review. Current knowledge allowed us to highlight the good clinical and electrographic responses of genetic early-onset epilepsies to sodium channel blockers and the overall good response to levetiracetam, whose administration has also been demonstrated to be safe in both full-term and preterm newborns. Interpretation: Our work contributes by confirming the limited availability of evidence that can be used to guide the use of anticonvulsants to treat newborns in clinical practice and examining the efficacy and potentially harmful side effects of currently available drugs when used to treat the developing newborn brain; therefore, our work might also serve as a clinical reference for future studies. [ABSTRACT FROM AUTHOR]

Treatment of childhood seizures is a pressing challenge within neuropediatrics because of its severe impact to the children and families affected by these debilitating disorders. It is of upmost importance to make an early diagnosis, to start a promptly treatment, to use therapy and dosage of the drug appropriately, based on the specific epileptic type and epileptic syndrome. Single therapy with appropriate dosage is the main approach to treatment. When the drug is the cause of an idiosyncratic reaction it is advisable to replace the suboptimal seizure response with another antiepileptic drug, combined therapy with two antiepileptic drugs is also a viable option. In childhood, polytherapy using more than two antiepileptic drugs remains controversial because the harm of interaction with deleterious drugs could potentially replace the damage caused by the seizures themselves. The use of three or more antiepileptic drugs should be limited to epileptic seizures that are particularly resistant to drugs and when non-drug antiepileptic therapies have failed. An approach to the difficult topic of epileptic treatment in childhood is reported. Key point: mono vs polytherapy in epileptic children; single and alternative therapy in epileptic children; use or three or more AEDs in children. [ABSTRACT FROM AUTHOR]

Highlights • Low PFCs concentration in children living in Sicily. • PFSO concentration is higher in girls. • Maternal parity is significantly associated with PFDA and PFHxS. • Months of breastfeeding is significantly correlated with PFUnDA. Abstract Perfluorinated compounds (PFCs) are a large group of man-made chemicals characterized by a completely fluorinated hydrophobic linear carbon chain attached to a hydrophilic head. The presence of PFCs has been related with various adverse effects on several organs and systems. 61 children (6–11 years of age) living in Sicily underwent medical examination and blood and urine routinary tests, as well as the serum concentration of 16 PFCs. These compounds (∑PFCs = 5.888 ng/mL, range 1.035–12.94 ng/mL) were widely detected in the samples of all children, showing that they had been extensively exposed to PFCs, especially perfluorooctane sulfonate (PFOS), perfluorooctanoic acid (PFOA), perfluorohexanesulfonate (PFHxs) and perfluorodecanoic acid (PFDA). In addition, long-chained PFCs were found in children's blood correlated with short-chained ones. Perfluorodecanoic acid (PFDA) (beta=−0.114) and PFHxS (beta = 0.003) levels were correlated with maternal parity; while the "months of breastfeeding" variable is correlated with perfluoroundecanoic acid (PFUnDA) concentrations (beta = 0.008). Female gender is negatively associated with PFOS (beta = 0.008). The adverse health effects of PFCs on young children should be noted, due to their growing phase. Therefore, further studies are needed to monitor and address adverse health outcomes of PFCs on children, especially those living in industrial regions. [ABSTRACT FROM AUTHOR]

Background: Parents often do not consider fever as an important physiological response and mechanism of defense against infections that leads to inappropriate use of antipyretics and potentially dangerous side effects. This study is designed to evaluate the appropriateness of antipyretics dosages generally administered to children with fever, and to identify factors that may influence dosage accuracy. Results: In this cross-sectional study we analyzed the clinical records of 1397 children aged >1 month and < 16 years, requiring a primary care (ambulatory) outpatient visit due to fever. We evaluated the number of children who had received >90 mg/kg/day of acetaminophen, the prescriber, the medication formula and the educational level of the caregiver who administered acetaminophen. Among those children included in our study, 74 % were administered acetaminophen for body temperature ≤ 38.4 °C. 24.12 % of children received >90 mg/kg/day of acetaminophen. Parents with university qualifications most commonly self-administered acetaminophen to their children, in a higher than standard dose. Self medication was also described in 60 % of children, whose acetaminophen was administered for temperatures < 38 °C. Acetaminophen over-dosage was also favored by the use of drug formulations as drops or syrup. Conclusions: Our study shows that preventive action should be taken regarding the use of acetaminophen as antipyretic drug in children in order to reduce the fever phobia and self-prescription, especially of caregivers with higher educational levels. It is also necessary to promote a more appropriate use of acetaminophen in those parents using drops or syrup formulations. [ABSTRACT FROM AUTHOR]

Background: The Appraisal of Guidelines for Research and Evaluation (AGREE II) tool is a validated questionnaire used to assess the methodological quality of clinical guidelines (CGs). We used the AGREE II tool to assess the development process, the methodological quality, and the quality of reporting of available pediatric CGs for the management of headache in children. We also studied the variability in responses related to the characteristics of eleven Italian neuropediatric centers, showing similarities and differences in the main recommendations reported in CGs. Methods: A systematic literature search was conducted from January 2002 to June 2013 on Mediline, the Cochrane database, the National Guideline Clearinghouse website and the NHS evidence search tool, using the following terms: headache, cephalalgia, guidelines and children (MESH or text words). Six CGs providing information on the diagnosis and management of headache and specific recommendations for children were selected. Eleven neuropediatric centers assessed the overall quality and the appropriateness of all available CGs using of the AGREE II instrument. Results: Six CGs meeting the inclusion and exclusion criteria were identified and assessed by 11 reviewers. Our study showed that the NICE CGs was “strongly recommended” while the French and Danish CGs were mainly “not recommended”. The comparison between the overall quality score of the French CGs and the NICE CGs was statistically significant (6.54 ± 0.69 vs 4.18 ± 1.08; p =0.001). The correlation analysis between quality domain score and guideline publication date showed a statistically significant association only for the “editorial independence” domain (r = 0.842 p = 0.035). The intra-class coefficients showed that the 11 reviewers had the highest agreement for the Lewis CGs (r = 0.857), and the lowest one for the NICE CGs (r = 0.656). Statistical analyses showed that professionals from outpatient services dedicated pediatric headache assigned a higher overall quality score to the NICE CGs as compared to professionals from non-outpatient services (6.86 ± 0.38 vs 6.0 ± 0.82; p = 0.038). Conclusions: CGs resulted definitely of low-moderate quality and non “homogeneous”. Further major efforts are needed to update the existing CGs according to the principles of evidence based medicine. [ABSTRACT FROM AUTHOR]

Seizures are defined as a transient occurrence of signs and symptoms due to the abnormal, excessive, or synchronous neuronal activity in the brain characterized by abrupt and involuntary skeletal muscle activity. An early diagnosis, treatment, and specific medical support must be performed to prevent Status Epilepticus (SE). Seizure onset, especially in the child population, is related to specific risk factors like positive family history, fever, infections, neurological comorbidity, premature birth, mother's alcohol abuse, and smoking in pregnancy. Early death risk in children without neurological comorbidity is similar to the general population. Diagnosis is generally based on the identification of continuous or recurrent seizures but Electroencephalogram (EEG) evaluation could be useful if SE condition is suspected. The main goal of therapy is to counteract the pathological mechanism which occurs in SE before neural cells are irreversibly damaged. According to the latest International Guidelines and Recommendations of seizure related diseases, a schematic and multi-stage pharmacological and diagnostic approach is proposed especially in the management of SE and its related causes in children. First measures should focus on early and appropriate drugs administration at adequate dosage, airway management, monitoring vital signs, Pediatric Intensive Care Unit (PICU) admission, and management of parent anxiety. [ABSTRACT FROM AUTHOR]