Publications by authors named "Martino Ruggieri"

178 Publications

Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review.

Medicine (Baltimore) 2022 Aug;101(31):e29413

Unit of Catania, National Council of Research, Institute for Research and Biomedical Innovation (IRIB), Catania, Italy.

Alternating Hemiplegia of Childhood (AHC) is a rare disorder with onset in the first 18 months of life characterized by stereotyped paroxysmal manifestations of tonic and dystonic attacks, nystagmus with other oculomotor abnormalities, respiratory and autonomic dysfunctions. AHC is often associated with epileptic seizures and developmental delay. Hemiplegic paroxysm is the most remarkable symptom, although AHC includes a large series of clinical manifestations that interfere with the disease course. No cure is available and the treatment involves many specialists and therapies. Flunarizine is the most commonly used drug for reducing the frequency and intensity of paroxysmal events. Mutations in ATP1A2, particularly in ATP1A3, are the main genes responsible for AHC. Some disorders caused by ATP1A3 variants have been defined as ATP1A3-related disorders, including rapid-onset dystonia-parkinsonism, cerebellar ataxia, pes cavus, optic atrophy, sensorineural hearing loss, early infant epileptic encephalopathy, child rapid-onset ataxia, and relapsing encephalopathy with cerebellar ataxia. Recently, the term ATP1A3 syndrome has been identified as a fever-induced paroxysmal weakness and encephalopathy, slowly progressive cerebellar ataxia, childhood-onset schizophrenia/autistic spectrum disorder, paroxysmal dyskinesia, cerebral palsy/spastic paraparesis, dystonia, dysmorphism, encephalopathy, MRI abnormalities without hemiplegia, and congenital hydrocephalus. Herewith, we discussed about historical annotations of AHC, symptoms, signs and associated morbidities, diagnosis and differential diagnosis, treatment, prognosis, and genetics. We also reported on the ATP1A3-related disorders and ATP1A3 syndrome, as 2 recently established and expanded genetic clinical entities.
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http://dx.doi.org/10.1097/MD.0000000000029413DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9351909PMC
August 2022

Graph theory in paediatric epilepsy: A systematic review.

Dialogues Clin Neurosci 2021 1;23(1):3-13. Epub 2022 Jun 1.

Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy.

Graph theoretical studies have been designed to investigate network topologies during life. Network science and graph theory methods may contribute to a better understanding of brain function, both normal and abnormal, throughout developmental stages. The degree to which childhood epilepsies exert a significant effect on brain network organisation and cognition remains unclear. The hypothesis suggests that the formation of abnormal networks associated with epileptogenesis early in life causes a disruption in normal brain network development and cognition, reflecting abnormalities in later life. Neurological diseases with onset during critical stages of brain maturation, including childhood epilepsy, may threaten this orderly neurodevelopmental process. According to the hypothesis that the formation of abnormal networks associated with epileptogenesis in early life causes a disruption in normal brain network development, it is then mandatory to perform a proper examination of children with new-onset epilepsy early in the disease course and a deep study of their brain network organisation over time. In regards, graph theoretical analysis could add more information. In order to facilitate further development of graph theory in childhood, we performed a systematic review to describe its application in functional dynamic connectivity using electroencephalographic (EEG) analysis, focussing on paediatric epilepsy.
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http://dx.doi.org/10.1080/19585969.2022.2043128DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9286734PMC
July 2022

Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome.

Neurol Sci 2022 Jul 9. Epub 2022 Jul 9.

Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, AOU "Policlinico," PO "G. Rodolico, Catania, Italy.

Background: The BUB 1 mitotic checkpoint serine/threonine kinase B (BUB1B) gene encodes a key protein in the mitotic spindle checkpoint, which acts as a surveillance mechanism, crucial for the maintenance of the correct chromosome number during cell deviation. Mutations of BUB1B gene are linked to mosaic variegated aneuploidy 1 (MVA1) syndrome, a rare autosomal recessive disorder characterized by widespread mosaic aneuploidies, involving different chromosomes and tissues. MVA1 is clinically characterized by intrauterine growth restriction, post-natal growth retardation, and severe neurologic impairment including microcephaly, developmental delay/intellectual disability, epileptic seizures, and generalized hypotonia. Malignancies are also serious sequelae associated with the disorder. We reported on a case of two-year-old Italian girl with MVA1 who shows severe neurologic impairment, microcephaly and epileptic seizures.

Materials And Methods: Clinical data collection and genetic diagnosis of the patient were assessed. Mutational analysis covers the chromosomal microarray analysis, the gene methylation pattern studied using the methylation-specific multiplex ligation-dependent probe amplification, and the family-based Whole Exome Sequencing (WES). A literature research based on reported cases of MVA and premature chromatid separation was also included.

Results: Karyotyping has revealed 12% of mosaics in the patient who carries a novel variant in BUB1B gene (c.2679A > T, p.Arg893Ser) detected by WES. Thirty-one cases of MVA1 including the present report, and four prenatally diagnosed cases with MVA1 were selected and inspected.

Conclusion: Clinical and genetic findings reported in the girl strongly suggest a new MVA1 genotype-phenotype correlation and lead to a reappraisal of a severe syndrome. Diagnosis and in-depth follow-up provided worthwhile data.
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http://dx.doi.org/10.1007/s10072-022-06247-wDOI Listing
July 2022

Thrombotic events in children and adolescent patients with SARS-CoV-2 infection: a systematic review with meta-analysis on incidence and management.

Expert Rev Hematol 2022 Jul 25;15(7):635-643. Epub 2022 Jul 25.

Unit of Pediatrics and Pediatric Emergency, Azienda Ospedaliero Universitaria Policlinico "G.Rodolico - San Marco, San Marco Hospital, Catania, Italy.

Objectives: The present paper aimed to study the available literature on the hypercoagulability state of pediatric patients affected by COVID-19, and the current management of thrombosis in these patients, considering that no guidelines have been published since now in this age group.

Methods: N 244 titles were screened using the selected MESH words, 180 abstracts and 120 full texts were read, 12 articles were included, and four were analyzed by meta-analysis.

Results: Over 1128 COVID-19 positive patients, nearly half of them developed inflammatory sequelae, and 7.35% (40 patients over 544 who developed MIS-C) had thrombotic events. Less than 50% of patients with inflammatory disease were under anticoagulant prophylactic treatment, and doses of anticoagulant protocols vary from different centers. Thrombotic events prevented after the start of unfractionated heparin (UFH) therapy, even if 1.06% (4 patients) died. Only two patients presented complications after anticoagulant treatment, with non-fatal bleeding after UFH treatment. No other complications were reported. No difference in the incidence of thrombotic events between patients under prophylactic low molecular weight heparin (LMWH) and those without was found in meta-analysis (p = 0.32).

Conclusions: Little is known on the incidence and management of hyper coagulopathy in pediatric COVID-19 infection. Further studies have to clarify this topic.
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http://dx.doi.org/10.1080/17474086.2022.2094758DOI Listing
July 2022

Practical Approach to Histological Diagnosis of Peripheral Nerve Sheath Tumors: An Update.

Diagnostics (Basel) 2022 Jun 14;12(6). Epub 2022 Jun 14.

Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, University of Catania, 95124 Catania, Italy.

Peripheral nerve sheath tumors encompass a wide spectrum of lesions with different biological behavior, including both benign and malignant neoplasms as well as the recent diagnostic category, i.e., "" to be used only for NF1 patients. Neurofibromas and schwannomas are benign Schwann-cell-derived peripheral nerve sheath tumors arising as isolated lesions or within the context of classical neurofibromatosis or schwannomatoses. Multiple tumors are a hallmark of neurofibromatosis type 1(NF1) and related forms, NF2-related-schwannomatosis (formerly NF2) or SMARCB1/LZTR1-related schwannomatoses. Perineuriomas are benign, mostly sporadic, peripheral nerve sheath tumors that show morphological, immunohistochemical, and ultrastructural features reminiscent of perineurial differentiation. Hybrid tumors exist, with the most common lesions represented by a variable mixture of neurofibromas, schwannomas, and perineuriomas. Conversely, malignant peripheral nerve sheath tumors are soft tissue sarcomas that may arise from a peripheral nerve or a pre-existing neurofibroma, and in about 50% of cases, these tumors are associated with NF1. The present review emphasizes the main clinicopathologic features of each pathological entity, focusing on the diagnostic clues and unusual morphological variants.
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http://dx.doi.org/10.3390/diagnostics12061463DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9222088PMC
June 2022

Multiple primary malignances managed with surgical excision: a case report with next generation sequencing analysis.

Mol Biol Rep 2022 Jun 17. Epub 2022 Jun 17.

Department of General Surgery and Medical-Surgical Specialties, University of Catania, 95123, Catania, Italy.

Background: Multiple primary malignancies (MPM) are defined as tumors originating in the same individual without any correlation between them. In addition to morphological and immunohistochemical analyses, sensitive DNA sequencing methods such as next generation sequencing (NGS) may help to discriminate the common or different genetic alterations driving each malignancy, to better diagnose these uncommon cases.

Methods And Results: Here we report the case of a man who developed a poorly differentiated gastric adenocarcinoma invading the pancreas followed, two years later, by a colorectal cancer involving also the kidney and the diaphragm. Despite the advanced stage of both diseases, adjuvant chemotherapy was successful. While the second tumor was initially interpreted as a relapse of his stomach cancer, NGS-based mutation profiling of the two carcinomas revealed two distinct malignances, independently developing in different times and indicative of metachronous MPM. Indeed, sequencing of cancer-associated genes identified somatic mutations only in the first gastric cancer, besides germline variants on three different genes (PDGFRA, APC and TP53). However, analysis of both somatic and germline mutations with bio-informatics prediction tools failed to find a correlation between these variants and the unexpectedly good prognosis of both cancers.

Conclusions: In summary, NGS analysis contributed to defined different molecular profiles for two tumors developed in the span of two years, thus allowing diagnosing the case as MPN. However, NGS was unable to establish a direct correlation between the identified alterations and cancer development.
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http://dx.doi.org/10.1007/s11033-022-07630-8DOI Listing
June 2022

Neonatal neurologic emergencies requiring access to paediatric emergency units: a retrospective observational study.

Sci Rep 2022 Jun 17;12(1):10273. Epub 2022 Jun 17.

Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, 95124, Catania, Italy.

Herein, authors present a retrospective, multi-center study to determine the number of accesses to Pediatric Emergency Unit (PEU) of patients within 28 days of life, admitted to (1) the Acute and Emergency Pediatric Unit, San Marco University Hospital, Catania, Italy; (2) Garibaldi Hospital for Emergency Care, Catania, Italy; (3) Cannizzaro Hospital for Emergency Care, Catania, Italy. We included neonates admitted for neurologic problems, from January 2015 to December 2020, to the 1-Acute and Emergency Access of the San Marco University Hospital, Catania, Italy [observation center 1 (OC1)]; 2-Garibaldi Hospital for Emergency Care, Catania, Italy (Observation Center 2-OC2); 3-Cannizzaro Hospital for Emergency Care, Catania, Italy (Observation Center 3-OC3). For each patient, we evaluated the severity of urgency, by studying the admission triage-coloured codes, the clinical data at admission and the discharge diagnosis. Neonates who had access to PEU were 812 in the OC1, 3720 in the OC2, and 748 in the OC3 respectively; 69 (8.4%), 138 (3.7%), and 55 (7.4%) was the proportion of neonatal accesses for neurological conditions. We observed that in the study period, the three hospitals had an important decrease of pediatric accesses to their PEU, but the proportion of neonates who had access to the OC1 for neurologic diseases, with respect to the total neonatal accesses, remained stable. We found that the most frequent neurologic disease for which newborns had access to PEU was Cyanosis, (46.1% of all neonatal accesses). Apnea was the second most frequent cause, with a number of 76 accesses (29%). In the literature there are numerous studies on the assessment of diseases that most frequently concern the pediatric patient in an emergency room, but there are very few references on neonatal accesses for urgent neurologic diseases. Therefore, appropriate training is required to avoid unnecessary tests without overlooking potentially serious conditions.
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http://dx.doi.org/10.1038/s41598-022-13703-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9205415PMC
June 2022

Decision-Making Challenge of Ping-Pong Fractures in Children: Case Exemplification and Systematic Review of Literature.

World Neurosurg 2022 Jun 2;165:69-80. Epub 2022 Jun 2.

Department of Neurological Surgery, Policlinico "G. Rodolico-S. Marco" University Hospital, Catania, Italy; Interdisciplinary Research Center on Brain Tumors Diagnosis and Treatment, University of Catania, Catania, Italy.

Ping-pong fractures have become less frequent, and no definite predictors to determine which fractures will elevate spontaneously and which should undergo surgical treatment have been clearly defined. Herein, the authors present a revision of the literature, in which 54 papers were included, with a total of 228 children studied. Patients who underwent surgery accounted for 30%; elevation through obstetrical vacuum or other aspiration systems was applied in 30%; and spontaneous resolution occurred in 40%; in 4 patients, percutaneous microscrew elevation was applied. Overall, in 96.4% of patients, the outcome was favorable because we found no significant increase in the incidence of post-traumatic seizures or neurologic sequelae with no significant differences between treated patients and spontaneous elevation. Statistical analysis showed no significant differences among the different treatment methods (P = 0.53). Our results suggest that simple compound ping-pong fractures without brain compression, hematomas, or dural tears could benefit from conservative management. In cases of nonspontaneous resolution after 6 months, operative strategies should be performed, considering that there is no evidence of differences between vacuum elevation and surgical elevation.
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http://dx.doi.org/10.1016/j.wneu.2022.05.130DOI Listing
June 2022

Diagnostic controversies in recurrent painful ophthalmoplegic neuropathy: single case report with a systematic review.

Ital J Pediatr 2022 Jun 3;48(1):82. Epub 2022 Jun 3.

Department of Clinical and Experimental Medicine, Unit of Rare Diseases of the Nervous System in Childhood, Section of Paediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy.

Background: Ophthalmoplegic migraine, renamed "Recurrent Painful Ophthalmoplegic Neuropathy" (RPON) in 2013 by the International Headache Society is a rare neurologic disorder characterized by recurrent attacks of ophthalmoplegia associated to ipsilateral headache. The etiology is still unknown. Typical magnetic resonance imaging findings show a focal nerve thickening and contrast enhancement. In the majority of cases, there is a full recovery within days or weeks. There is no evidence supporting a specific treatment. The review defines the characteristics of the recurrent painful ophthalmoplegic neuropathy in patients within 2 years of age underlying the importance of the role of magnetic resonance imaging even in presence of the first attack. Thus, an emblematic case report is presented.

Case Presentation: The authors present a case of third cranial nerve paresis in a 17-month-old male child, presenting a neuroradiological pattern highly suggestive of schwannoma, aneurism or recurrent painful ophthalmoplegic neuropathy. Thus, a review of the literature with the pediatric casuistry of recurrent painful ophthalmoplegic neuropathy occurred within 2 years of age focusing on diagnostic considerations is presented. The authors highlight the importance to consider recurrent painful ophthalmoplegic neuropathy in presence of magnetic resonance imaging findings and clinical symptoms referable to aneurysm or schwannoma. Thus, the review defines the characteristics and the neuroradiological findings at the first RPON attack occurred under 2 years of age.

Conclusion: Although two attacks are necessary, the review strongly suggests to consider recurrent painful ophthalmoplegic neuropathy even at the first attack, in presence of described characteristics and the aforementioned magnetic resonance imaging findings.
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http://dx.doi.org/10.1186/s13052-022-01274-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9164546PMC
June 2022

Autoimmune encephalitis and CSF anti-AMPA GluR3 antibodies in childhood: a case report and literature review.

Neurol Sci 2022 May 31. Epub 2022 May 31.

Pediatric Unit and Pediatric Emergency Room of Emergency Hospital Cannizzaro, Via Messina 829, 95126, Catania, Italy.

Acute autoimmune encephalitis is a severe neurological disorder presenting with altered level of consciousness, confusion, irritability, headache, vomiting, and in some cases seizures. An infective event precedes by 1-2 weeks the onset of the symptoms. Cognitive impairment is considered the cardinal symptom. The autoimmune encephalitis comprises an increasingly group of inflammatory brain disorder caused by an underlying abnormal immune response to the CNS to the infective agent. In children, several antibodies have been recorded as causative agent. Among these, GAD65, MOG, and NMDAR antibodies are more commonly reported and with less frequency, the Dopamine-2 receptor, GABA A receptor, GABA B receptor, and Glycinereceptorandm-GluR5. We report here a 10-year-old male with acute autoimmune encephalitis with altered status of consciousness and severe cerebral involvement at the brain-MRI. Serum and cerebrospinal fluid disclosed the presence of anti-AMPA-GluR3 antibodies suggesting a possible pathogenetic correlation with the disorder presented by the proband. Precocious treatment with intravenous methylprednisolone and immunoglobulin resulted in progressive but constant improvement. At 3-month follow-up, the clinical condition of the child and the neuro-radiological brain anomalies returned to the normal. At the 2-year follow-up, no recurrence or other disturbances were reported.
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http://dx.doi.org/10.1007/s10072-022-06170-0DOI Listing
May 2022

The choroid plexus as a diagnostic tool in Sturge-Weber syndrome.

Authors:
Martino Ruggieri

Eur J Paediatr Neurol 2022 05 10;38:A4-A5. Epub 2022 May 10.

Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, University of Catania, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2022.05.001DOI Listing
May 2022

Fever-Associated Seizures or Epilepsy: An Overview of Old and Recent Literature Acquisitions.

Front Pediatr 2022 21;10:858945. Epub 2022 Apr 21.

Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, AOU "Policlinico", PO "G. Rodolico", Catania, Italy.

In addition to central nervous system infections, seizures and fever may occur together in several neurological disorders. Formerly, based on the clinical features and prognostic evolution, the co-association of seizure and fever included classical febrile seizures (FS) divided into simple, complex, and prolonged FS (also called febrile status epilepticus). Later, this group of disorders has been progressively indicated, with a more inclusive term, as "fever-associated seizures or epilepsy" (FASE) that encompasses: (a) FS divided into simple, complex, and prolonged FS; (b) FS plus; (c) severe myoclonic epilepsy in infancy (Dravet syndrome); (d) genetic epilepsy with FS plus; and (e) febrile infection-related epilepsy syndrome (FIRES). Among the FASE disorders, simple FS, the most common and benign condition, is rarely associated with subsequent epileptic seizures. The correlation of FS with epilepsy and other neurological disorders is highly variable. The pathogenesis of FASE is unclear but immunological and genetic factors play a relevant role and the disorders belonging to the FASE group show to have an underlying common clinical, immunological, and genetic pathway. In this study, we have reviewed and analyzed the clinical data of each of the heterogeneous group of disorders belonging to FASE.
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http://dx.doi.org/10.3389/fped.2022.858945DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9070101PMC
April 2022

Neonatal ischemic limb lesions: From etiology to topical nitroglycerine. A case series analysis.

Dermatol Ther 2022 05 12;35(5):e15426. Epub 2022 Mar 12.

Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy.

Although rare, ischemic lesions in neonates may occur in Neonatal Intensive Care Units (NICUs) secondary to routine procedures and/or medicaments. We present double-center case series, reporting three preterm neonates with ischemic lesions following cardiac arrest and radial blood sampling. The overall outcome after treatment with 2% nitroglycerine (NTG) ointment showed optimal results with no adverse events. The most frequent causes responsible for the onset of such lesions are peripheral arterial catheterization procedures and dopamine extravasation. Our series describe the cardiac arrest as an underestimated cause of onset. Despite the optimal results emerging from the treatment of such lesions with NTG ointment, both in our experience and in the scientific literature, a defined protocol for its use in NICUs is not currently available, hence the need for further studies.
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http://dx.doi.org/10.1111/dth.15426DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9286834PMC
May 2022

Evidences of emerging pain consciousness during prenatal development: a narrative review.

Neurol Sci 2022 Jun 4;43(6):3523-3532. Epub 2022 Mar 4.

Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, AOU "Policlinico," PO "G. Rodolico," Via S. Sofia, 87, 95128, Catania, Italy.

Background: The study of consciousness has always been considered a challenge for neonatologists, even more when considering the uterine period. Our review aimed to individuate at what gestational age the fetus, which later became a premature infant, can feel the perception of external stimuli. Therefore, the aim of our review was to study the onset of consciousness during the fetal life.

Materials And Methods: A literature search was performed in Medline-PubMed database. We included all papers found with the following MeSH words: "consciousness or cognition or awareness or comprehension or cognitive or consciousness of pain" in combination with "embryo or fetus or fetal life or newborn." Studies were selected if titles and/or abstracts suggested an association between formation of consciousness (the basics of neurodevelopment) and preterm infant or fetus. Titles and abstracts were first screened by three independent reviewers according to Cochrane Collaboration's recommendations.

Results: From the literature review, we found only 8 papers describing the onset of consciousness in the transition period from fetus to premature newborn. Therefore, according to these papers, we temporally analyzed the formation of the thalamocortical connections that are the basis of consciousness.

Conclusions: We can conclude that from a neuroanatomical point of view, it is rather unlikely that the infant can be seen as a conscious human before 24 weeks of gestational age, thus before all the thalamocortical connections are established. Further literature data have to confirm this hypothesis.
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http://dx.doi.org/10.1007/s10072-022-05968-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9120116PMC
June 2022

Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability.

Ital J Pediatr 2022 Feb 17;48(1):29. Epub 2022 Feb 17.

Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, AOU "Policlinico", PO "G. Rodolico", Catania, Italy.

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.
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http://dx.doi.org/10.1186/s13052-021-01194-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8851838PMC
February 2022

Gaming Technology for Pediatric Neurorehabilitation: A Systematic Review.

Front Pediatr 2022 28;10:775356. Epub 2022 Jan 28.

Department of Educational Science, Chair of Pediatrics, University of Catania, Catania, Italy.

Introduction: The emergence of gaming technologies, such as videogames and virtual reality, provides a wide variety of possibilities in intensively and enjoyably performing rehabilitation for children with neurological disorders. Solid evidence-based results are however required to promote the use of different gaming technologies in pediatric neurorehabilitation, while simultaneously exploring new related directions concerning neuro-monitoring and rehabilitation in familiar settings.

Aim Of The Study And Methods: In order to analyze the state of the art regarding the available gaming technologies for pediatric neurorehabilitation, Scopus and Pubmed Databases have been searched by following: PRISMA statements, PICOs classification, and PEDro scoring.

Results: 43 studies have been collected and classified as follows: 11 feasibility studies; six studies proposing home-system solutions; nine studies presenting gamified robotic devices; nine longitudinal intervention trials; and eight reviews. Most of them rely on feasibility or pilot trials characterized by small sample sizes and short durations; different methodologies, outcome assessments and terminologies are involved; the explored spectrum of neurological conditions turns out to be scanty, mainly including the most common and wider debilitating groups of conditions in pediatric neurology: cerebral palsy, brain injuries and autism.

Conclusion: Even though it highlights reduced possibilities of drawing evidence-based conclusions due to the above outlined biases, this systematic review raises awareness among pediatricians and other health professionals about gaming technologies. Such a review also points out a definite need of rigorous studies that clearly refer to the underlying neuroscientific principles.
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http://dx.doi.org/10.3389/fped.2022.775356DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8832052PMC
January 2022

Ketogenic diet in pediatric seizures: a randomized controlled trial review and meta-analysis.

Expert Rev Neurother 2022 Feb 25;22(2):169-177. Epub 2022 Feb 25.

General Pediatrics and Pediatric Acute and Emergency Unit,Neonatal Intensive Care Unit and Neonatal Accompaniment Unit, Azienda Ospedaliero-Universitaria Policlinico-San Marco, San Marco Hospital, University of Catania, Catania, Italy.

Background: The ketogenic diet is a non-pharmacologic treatment option for children with drug-resistant epilepsy. This systematic review and meta-analysis aimed to assess the efficacy of the ketogenic diet on seizures frequency in children.

Methods: We reviewed the literature using Cochrane, EMBASE, MEDLINE, and highly qualified journals.Randomized controlled trials were chosen to investigate the seizures-free regime or at least 50% seizures reduction after three months from the starting of the ketogenic diet or earlier. We have selected articles from January 2011 to January 2020.Eight articles were eligible. The data show a significant reduction in seizure frequency in the dietary treatment pediatric population. The rate of a seizures-free regime or at least 50% seizures reduction was 48.31% of patients in the intervention group.

Results: Our overall meta-analysis underlined the significant efficacy. The KD group is 5.6 times more likely than the control group to have a 50% reduction of seizures after three months of the diet or earlier.QUADAS and AMSTAR assessments showed a low risk of bias and adequate accuracy.

Conclusion: The results show that the KD reduces seizure frequency in children with drug-refractory epilepsy. KD is an effective treatment option for children and adolescents with refractory epilepsy.
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http://dx.doi.org/10.1080/14737175.2022.2030220DOI Listing
February 2022

aEEG vs cEEG's sensivity for seizure detection in the setting of neonatal intensive care units: A systematic review and meta-analysis.

Acta Paediatr 2022 May 16;111(5):916-926. Epub 2022 Feb 16.

Unit of Rare Diseases of the Nervous System, Section of Pediatrics and Child Neuropsychiatry, A.U.O. Policlinico-Vittorio Emanuele Catania, Catania, Italy.

Aim: Amplitude-integrated electroencephalography (aEEG)'s accuracy compared to conventional electroencephalography (cEEG) has not been fully established. The aim of our study was to conduct a systematic review on the sensitivity of the aEEG for neonatal seizure detection.

Methods: Studies from PubMed and Google Scholar databases comparing recordings of cEEG and aEEG in newborns were included according to the PRISMA method. A quality assessment using the QUADAS-2 tool was provided. A random-effect model was used to account for different sources of variations among studies. Publication biases were represented by a funnel plot, and funnel plot symmetry was assessed.

Results: Fourteen studies were reported; sensitivity of each diagnostic tool used (single-channel aEEG, two-channel aEEG, two-channel aEEG plus raw trace EEG) was compared to that of the gold-standard cEEG and to those of the other methods used. Overall sensitivity of the aEEG ranged from 31.25% to 90%.

Conclusion: Our study provides evidence that sensitivity of aEEG varies significantly and that seizure detection rate is lower than that of cEEG. The two-channel aEEG with raw trace EEG shows a high sensitivity and might represent a valid alternative to the cEEG in the setting of neonatal intensive care units (NICUs).
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http://dx.doi.org/10.1111/apa.16251DOI Listing
May 2022

A Novel 4q32.3 Deletion in a Child: Additional Signs and the Role of .

J Pediatr Genet 2021 Dec 2;10(4):259-265. Epub 2021 Nov 2.

Unit of Pediatrics, Neonatology and Neonatal Intensive Care, and Pediatric Emergency, AOU "Policlinico," PO "San Marco," University of Catania, Catania, Italy.

The 4q deletion syndrome is an uncommon condition manifesting with broad clinical expression and phenotypic variability. We report a 5-year-old boy affected by 4q deletion syndrome who showed minor craniofacial features, growth failure, mild developmental delay, severe speech delay, and marked irascibility and aggressivity. Moreover, he showed precocious and crowded primary dentition, digital hyperlaxity, and congenital bilateral adducted thumbs, signs which were previously unreported in the syndrome. The array comparative genomic hybridization analysis revealed a 4q partial terminal deletion of ∼329.6 kb extending from 164.703.186 to 165.032.803 nt, which includes part of (membrane associated ring-CH-type finger 1) gene (OMIM#613331). Same rearrangement was found in his healthy mother. Clinical phenotype of the child and its relationship to the deleted region is presented with a revision of the cases having the same copy number losses from the literature and genomic variant databases.
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http://dx.doi.org/10.1055/s-0041-1736458DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8608485PMC
December 2021

Beyond neonatal seizures - epileptic evolution in preterm newborns: a systematic review and meta-analysis.

Epileptic Disord 2022 Feb;24(1):140-150

Child Neuropsychiatric Unit, University Hospital of Parma, Italy - Medicine & Surgery Department, Via Gramsci, 14, Parma, 43126, Italy.

Objective: To assess the potential risk of developing epilepsy in preterm newborns with neonatal seizures (NS). Two electronic databases (PubMed and Web of Sciences) were searched from inception to December 2020. Studies that investigated the outcome of epilepsy in neonates with NS were included.

Methods: Case-control, cross-sectional and cohort studies were included. Data synthesis was undertaken via systematic review and meta-analysis of available evidence. All review stages were conducted by three independent reviewers. We analysed data on neonates with NS who developed post-neonatal epilepsy (PNE) based on the data reported in the selected articles. We then investigated the development of PNE in term and preterm neonates.

Results: The initial search led to 568 citations, of which 12 were selected for the review and six were eligible for meta-analysis. Results of the meta-analysis showed no significant difference in the risk of developing PNE between full-term infants with NS (pooled OR [pOR]=0.92: 95% CI: 0.58-1.44) and preterm neonates.

Significance: Gestational age does not seem to be an independent predictor for the development of PNE in neonates with NS. More data are needed to explore the relationship between seizures in the neonatal period and epilepsy later in life.
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http://dx.doi.org/10.1684/epd.2021.1379DOI Listing
February 2022

Mild Hypoxic-Ischemic Encephalopathy: Can Neurophysiological Monitoring Predict Unfavorable Neurological Outcome? A Systematic Review and Meta-analysis.

Am J Perinatol 2021 Oct 19. Epub 2021 Oct 19.

Division of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy.

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: · Hypoxic-Ischemic Encephalopathy 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..
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http://dx.doi.org/10.1055/s-0041-1736593DOI Listing
October 2021

Observational study on the efficiency of Neonatal Emergency Transport in reducing mortality and morbidity indexes in Sicily.

Sci Rep 2021 10 12;11(1):20235. Epub 2021 Oct 12.

Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child [AQ03] Neuropsychiatry, University of Catania, Catania, Italy.

In these last 25 years, the Neonatal Emergency Transport (NET) service has been widely improved in Italy. To date, all National areas are covered by a NET service; 53 NET centers have been activated in all the Italian territory. Herein, the authors present an observational study to evaluate the rate of infantile mortality after introduction of NET in Sicily, and to study the efficiency of this service in reducing these rates of mortality in vulnerable neonates, transported from primary care birth centers to tertiary facilities to undergo to specialized NICU assistance. All neonates who required an emergency transport by NETS were included. No exclusions criteria were applied. Demographic and regional infantile mortality data, expressed as infant mortality rate, were selected by the official government database (ISTAT- National Statistic Institute- http://www.istat.it ). All data were respectively divided into three groups: data concerning transport, clinical condition, and mortality of the transported patients. We transported by NET 325 neonates. The analysis of the infant mortality rate (per 1.000 live births) in Catania from 2016 to 2018 was reduced compared to the same rate calculated before NETS activation (4.41 index before 2016 vs 4.17 index after 2016). These data showed an increase in other provinces (Enna, Caltanissetta, and Agrigento). 61% of neonates showed a respiratory disease. During the study period the proportion of neonates with a Mortality Index for Neonatal Transportation-MINT < 6 has been reduced, while there was an increase of neonates with higher Transport Risk Index of Physiologic Stability-TRIPS score results. The slight decrease of infantile mortality in Catania during the first three years after introduction of NET follows the same trend of all Italian territories, showing the importance of this service in reducing infantile mortality.
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http://dx.doi.org/10.1038/s41598-021-99477-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8511019PMC
October 2021

COVID-19 vaccination in pregnant and lactating women: a systematic review.

Expert Rev Vaccines 2021 12 11;20(12):1619-1628. Epub 2021 Oct 11.

Department of Clinical and Experimental Medicine Section of Pediatrics and Child Neuropsychiatry, Auo Policlinico 'Rodolico-san Marco' University of Catania, Italy.

Introduction: The concern of undergoing vaccination during pregnancy and lactation, in absence of data on safety and efficacy in these target populations, is subject of ongoing debate nationally and internationally. However, the only real prophylactic strategy against COVID-19 is still mass vaccination, which means to vaccinate infants and pregnant and lactating women.

Areas Covered: This is a systematic review aiming to evaluate the safety and the efficacy of COVID-19 vaccines in pregnant and lactating women and their newborns. We did advanced research on PubMed and Google Scholar, and searched for any evidence also on ClinicalTrials.gov. Results refer to a timeline going until 12 June 2021.

Expert Opinion: Our efforts must be directed to vaccine more and more population groups which have been preliminarily excluded from the vaccination campaign. Studies have not so far highlighted plausible adverse effects in vaccinated pregnant women or in their newborns. Reactogenicity across lactating and pregnant women does not seem to differ from general population. Likewise, abortion rate does not differ from non-vaccinated pregnant women studied before the COVID-19 pandemic. It also seems that a major amount of anti-SARS-CoV-2 immunoglobulins is transferred through the placenta and the breastmilk to the newborn, providing humoral immunity.
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http://dx.doi.org/10.1080/14760584.2021.1986390DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8515785PMC
December 2021

Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications.

Int J Mol Sci 2021 Sep 17;22(18). Epub 2021 Sep 17.

Institute for Biomedical Research and Innovation, National Research Council, 95126 Catania, Italy.

Lysosomal storage diseases (LSDs) are a heterogeneous group of approximately 70 monogenic metabolic disorders whose diagnosis represents an arduous challenge for clinicians due to their variability in phenotype penetrance, clinical manifestations, and high allelic heterogeneity. In recent years, the approval of disease-specific therapies and the rapid emergence of novel rapid diagnostic methods has opened, for a set of selected LSDs, the possibility for inclusion in extensive national newborn screening (NBS) programs. Herein, we evaluated the clinical utility and diagnostic validity of a targeted next-generation sequencing (tNGS) panel (called NBS_LSDs), designed ad hoc to scan the coding regions of six genes (, , , , , ) relevant for a group of LSDs candidate for inclusion in national NBS programs (MPSI, Pompe, Fabry, Krabbe, Niemann Pick A-B and Gaucher diseases). A standard group of 15 samples with previously known genetic mutations was used to test and validate the entire flowchart. Analytical accuracy, sensitivity, and specificity, as well as turnaround time and costs, were assessed. Results showed that the Ion AmpliSeq and Ion Chef System-based high-throughput NBS_LSDs tNGS panel is a fast, accurate, and cost-effective process. The introduction of this technology into routine NBS procedures as a second-tier test along with primary biochemical assays will allow facilitating the identification and management of selected LSDs and reducing diagnostic delay.
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http://dx.doi.org/10.3390/ijms221810064DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8470217PMC
September 2021

The Evolution of the Role of Imaging in the Diagnosis of Craniosynostosis: A Narrative Review.

Children (Basel) 2021 Aug 25;8(9). Epub 2021 Aug 25.

Unit of Pediatrics and Pediatric Emergency, AOU "Policlinico", PO "San Marco", University of Catania, 95121 Catania, Italy.

Craniosynostosis, the premature closure of cranial sutures, is one of the principal causes of pediatric skull deformities. It can cause aesthetic, neurological, acoustic, ophthalmological complications up to real emergencies. Craniosynostosis are primarily diagnosed with accurate physical examination, skull measurement and observation of the deformity, but the radiological support currently plays an increasingly important role in confirming a more precise diagnosis and better planning for therapeutic interventions. The clinician must know how to diagnose in the earliest and least invasive way for the child. In the past, technological limitations reduced the choices; today, however, there are plenty of choices and it is necessary to use the various types of available imaging correctly. In the future, imaging techniques will probably rewrite the common classifications we use today. We provide an updated review of the role of imaging in this condition, through the ages, to outline the correct choice for the clinician for an early and non-invasive diagnosis.
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http://dx.doi.org/10.3390/children8090727DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8467503PMC
August 2021

Monogenic Syndromes with Congenital Heart Diseases in Newborns (Diagnostic Clues for Neonatologists): A Critical Analysis with Systematic Literature Review.

J Pediatr Genet 2021 Sep 10;10(3):173-193. Epub 2021 Jul 10.

Department of Clinical and Experimental Medicine, Unit of Rare Diseases of the Nervous System in Childhood, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy.

Congenital heart disease (CHD), the most common major congenital anomaly, is associated with a genetic syndrome (chromosomal anomalies, genomic disorders, or monogenic disease) in 30% of patients. The aim of this systematic review was to evaluate if, in the neonatal setting, clinical clues that orient the diagnostic path can be identified. For this purpose, we revised the most frequent dysmorphic features described in newborns with CHD, comparing those associated with monogenic syndromes (MSG) with the ones reported in newborns with genomic disorders. For this systematic review according to PRISMA statement, we used PubMed, Medline, Google Scholar, Scopus database, and search terms related to CHD and syndrome. We found a wide range of dysmorphisms (ocular region, ears, mouth, and/or palate and phalangeal anomalies) detected in more than half of MSGs were found to be associated with CHDs, but those anomalies are also described in genomic rearrangements syndromes with equal prevalence. These findings confirmed that etiological diagnosis in newborns is challenging, and only the prompt and expert recognition of features suggestive of genetic conditions can improve the selection of appropriate, cost-effective diagnostic tests. However, in general practice, it is crucial to recognize clues that can suggest the presence of a genetic syndrome, and neonatologists often have the unique opportunity to be the first to identify abnormalities in the neonate.
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http://dx.doi.org/10.1055/s-0041-1731036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8416220PMC
September 2021

Sutures ultrasound: useful diagnostic screening for posterior plagiocephaly.

Childs Nerv Syst 2021 12 28;37(12):3715-3720. Epub 2021 Aug 28.

Unit of Pediatrics and Pediatric Emergency, AOU "Policlinico", PO "San Marco", University of Catania, Catania, Italy.

Purpose: Posterior plagiocephaly (PP) is a common clinical condition in pediatric age. There are two main causes of PP: postural plagiocephaly and craniosynostosis. Early diagnosis is important, as it prevents neurological complications and emergencies. Diagnosis in the past was often made late and with imaging tests that subjected the infant to a high radiation load. Suture ultrasound does not use ionizing radiation; it is easy to perform, allows an early diagnosis, and directs toward the execution of the cranial 3D-CT scan, neurosurgical consultation, and possible intervention. The aim of the study is to describe the high sensitivity and specificity of suture ultrasound for the differential diagnosis between plagiocephaly and craniosynostosis.

Methods: We reported our prospective experience and compared it with the data in the literature through a systematic review. The systematic review was conducted on electronic medical databases (PubMed, Embase, Cochrane Library, Scopus, and Web of Science) evaluating the published literature up to November 2020. According to Preferred Reporting Items for Systematic Reviews and Meta-ANALYSES (PRISMA statement), we identified 2 eligible studies. Additionally, according to AMSTAR 2, all included reviews have been critically rated as high quality. A total of 120 infants with abnormal skull shape were examined in NICU. All underwent clinical and ultrasound examination.

Results: Of the total, 105 (87.5%) had plagiocephaly and 15 dolichocephaly/scaphocephaly (12.5%). None of these had associated other types of malformations and/or neurological disorders. The synostotic suture was identified ultrasonographically in 1 infant and subsequently confirmed by 3D CT scan (100%).

Conclusion: Cranial sutures ultrasonography can be considered in infants a selective, excellent screening method for the evaluation of skull shape deformities as first technique before the 3D CT scan exam and subsequent neurosurgical evaluation. Cranial suture ultrasonography should be considered part of clinical practice especially for pediatricians.
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http://dx.doi.org/10.1007/s00381-021-05324-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8604816PMC
December 2021

Malformations of Cortical Development, Cognitive Involvementand Epilepsy: A Single Institution Experience in 19 Young Patients.

Children (Basel) 2021 Jul 26;8(8). Epub 2021 Jul 26.

Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Via S. Sofia 78, 95123 Catania, Italy.

Background: Malformations of cortical development (MCD) include a wide range of congenital disorders mostly causing severe cognitive dysfunction and epilepsy.

Objective: to report on clinical features including cognitive involvement, epileptic seizures with response to antiseizure medications, comorbidities in young patients affected by MCD and followed in a single tertiary hospital.

Patients And Methods: A retrospective review of the medical records and magnetic resonance images (MRI) of 19 young patients with an age ranging between eight days and fifteen years affected by MCD and admitted to Pediatrics Department University of Catania, Italy from October 2009 and October 2020 were selected. Patients were distinguished in three groups following the Barcovich et al. 2012 classification for MCD: 4 (21%) in Group I; 8 (42%) in Group II; and, and 7 (37%) in Group III. Clinical features and MRI of the patients including cognitive involvement, epilepsy type and response to drugs treatment were analyzed.

Results: In Group I, two patients showed cortical dysplasia and two dysembryoplastic neuroepithelial tumors plus focal cortical dysplasia; developmental delay/intellectual disability (DD/ID) was severe in one, moderate in one and absent in two; the type of seizures was in all the cases focal to bilateral tonic-clonic (FBTCs), and drug resistant was found in one case. In Group II, three patients showed neuronal hetero-topias and five had pachygyria-lissencephaly: DD/ID was severe in four, moderate in two, and absent in two; the type of seizure was focal (FS) in five, focal to bilateral tonic-clonic (FBTCs) in two, infantile spasms (IS) in one, and drug resistant was found in three. In Group III, six showed polymicrogyria and one schizencephaly: DD/ID was found severe in five, moderate in two, and the type of seizure was focal (FS) in five, FBTCS in two, and drug resistance was found in three.
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http://dx.doi.org/10.3390/children8080637DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8392186PMC
July 2021

Clinical features and long-term outcomes in pediatric cyclic vomiting syndrome: A 9-year experience at three tertiary academic centers.

Neurogastroenterol Motil 2022 Mar 24;34(3):e14224. Epub 2021 Aug 24.

Unit of Pediatric Gastroenterology and Cystic Fibrosis Unit, Department of Human Pathology in Adulthood and Childhood ''G. Barresi'', University of Messina, Messina, Italy.

Background: Pediatric cyclic vomiting syndrome (CVS) is a little-known clinical condition, frequently diagnosed with delay. This study aims to describe the clinical presentation and management and to define possible predictive factors of the disease outcome.

Methods: In this retrospective study, all children who were diagnosed with CVS during the period 2010-2019 in three tertiary academic centers were included. The association between clinical variables and outcomes was investigated.

Key Results: Fifty-seven children were included (male/female ratio 1.3:1; mean age at diagnosis 8.2 years). At the time of diagnosis, 63% of children had at least one episode every month. One or more prodromes were reported by 75% of patients. Family history of migraine was reported for 47% of children. Nearly, all of the children were started on prophylactic treatment. The median follow-up period was 29 months ± 15. Overall, 56% of children had resolution of vomiting. Twenty-six percent of children developed migraine. There were no differences in gender, age at onset, duration of follow-up, severity, medication, family history, or trigger factors between children who underwent resolution of vomiting and those who did not, or between children who suffered from migraine or not at follow-up. Four types of disease outcome were recognized, that is, resolution of vomiting with or without associated symptoms; persistence of vomiting with or without associated symptoms.

Conclusions And Inferences: Cyclic vomiting syndrome clinical presentation has inter-individual variability. Most children recover at follow-up, but often develop further somatic symptoms. In this study, no clinical variable clearly predicted the evolution of the syndrome toward one or the other outcome.
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http://dx.doi.org/10.1111/nmo.14224DOI Listing
March 2022

From Neonatal Intensive Care to Neurocritical Care: Is It Still a Mirage? The Sicilian Multicenter Project.

Crit Care Res Pract 2021 13;2021:1782406. Epub 2021 Aug 13.

Unit of Pediatrics and Pediatric Emergency, AUO Policlinico "Rodolico-San Marco", Department of Clinical and Experimental Medicine Section of Pediatrics and Child Neuropsychiatry, AUO Policlinico Vittorio Emanuele, University of Catania, Catania, Italy.

Background: Neonatal brain injury (NBI) can lead to a significant neurological disability or even death. After decades of intense efforts to improve neonatal intensive care and survival of critically ill newborns, the focus today is an improved long-term neurological outcome through brain-focused care. The goal of neuroprotection in the neonatal intensive care unit (NICU) is the prevention of new or worsening NBI in premature and term newborns. As a result, the neonatal neurocritical care unit (NNCU) has been emerging as a model of care to decrease NBI and improve the long-term neurodevelopment in critically ill neonates.

Purpose: Neurocritical care (NCC) Sicilian project includes three academic sites with NICU in Sicily (Catania, Messina, and Palermo), and its primary goal is to develop neurocritical neonatal care unit (NNCU).

Methods: In 2018, the three NICUs created a dedicated space for neonates with primary neurological diagnosis or at risk for neurological injuries-NNCU. Admission criteria for eligible patients and treatment protocols were created. Contact with parents, environmental protection, basic monitoring, brain monitoring, pharmacological therapy, and organization of the staff were protocolized.

Results: Evaluation of the efforts to establish NNCU within existing NICU, current protocols, and encountered problems are shown. Implications for Practice. Our outcome confirmed the need for dedicated NNCU for neuroprotection of critically ill neonates at risk for a neurological injury. Although the literature on neonatal neurocritical care is still scarce, we see the value of such targeted approach to newborn brain protection and therefore we will continue developing our NNCU, even though there have been problems encountered. The project of building NNCU will continue to be closely monitored.

Conclusions: The development of our neonatal neurocritical model of care is far from being completed. Although it is currently limited to the Sicilian area only, the goal of this paper is to share the development of this multicenter interdisciplinary project focused on a newborn brain protection. After evaluating our outcome, we strongly believe that a combined expertise in neonatal neurology and neonatal critical care can lead to an improved neurodevelopmental outcome for critically ill neonates, from the extremely preterm to those with brain injuries.
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http://dx.doi.org/10.1155/2021/1782406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8380151PMC
August 2021
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