Research

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12 pages, 1518 KiB

Open AccessArticle

Troponin I Levels in Neonatal Hypoxic–Ischemic Encephalopathy Are Related to Cardiopulmonary Comorbidity and Neurodevelopmental Outcomes

by Inn-Chi Lee, Chin-Sheng Yu, Swee-Hee Wong and Ko-Huang Lue

J. Clin. Med. 2021, 10(17), 4010; https://doi.org/10.3390/jcm10174010 - 05 Sep 2021

Cited by 4 | Viewed by 3265

Abstract

Troponin I is a biomarker for cardiac injury in children. The role of troponin I in neonatal Hypoxic–Ischemic encephalopathy (HIE) may have valuable clinical implications. Troponin I levels were measured within 6 h of birth to determine their relationship to HIE stage, short-term [...] Read more.

Troponin I is a biomarker for cardiac injury in children. The role of troponin I in neonatal Hypoxic–Ischemic encephalopathy (HIE) may have valuable clinical implications. Troponin I levels were measured within 6 h of birth to determine their relationship to HIE stage, short-term cardiac functional outcomes, and neurodevelopmental outcomes at 1 year. Seventy-three patients were divided into two groups: mild HIE and moderate to severe HIE. Troponin I levels within 6 h of birth were obtained in 61 patients, and were significantly higher in patients with moderate to severe HIE than in patients with mild HIE (Mann–Whitney U test, U = 146, p = 0.001). A troponin I cut-off level of ≥60 pg/mL predicted moderate to severe HIE with a specificity of 81.1% and a negative prediction rate of 76.9%. A troponin I cut-off level of ≥180 pg/mL was significantly (χ² (1, n = 61) = 33.1, p = 0.001, odds ratio 96.8) related with hypotension during first admission and significantly (χ² (1, n = 61) = 5.3, p = 0.021, odds ratio 4.53) related with abnormal neurodevelopmental outcomes at 1 year. Early troponin I level may be a useful biomarker for predicting moderate to severe HIE, and initialization of hypothermia therapy. Full article

(This article belongs to the Special Issue Pediatric Neurology—Current Challenges and Future Perspectives)

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8 pages, 1072 KiB

Open AccessArticle

Cognitive Assessment in GNAO1 Neurodevelopmental Disorder Using an Eye Tracking System

by Federica Graziola, Giacomo Garone, Melissa Grasso and Alessandro Capuano

J. Clin. Med. 2021, 10(16), 3541; https://doi.org/10.3390/jcm10163541 - 12 Aug 2021

Cited by 5 | Viewed by 1969

Abstract

GNAO1 gene mutations are associated with a neurodevelopmental disorder characterized by developmental delay, epilepsy, and movement disorder. Eye tracking and eye movement analysis are an intriguing method to assess cognitive and language function and, to the best of our knowledge, it has never [...] Read more.

GNAO1 gene mutations are associated with a neurodevelopmental disorder characterized by developmental delay, epilepsy, and movement disorder. Eye tracking and eye movement analysis are an intriguing method to assess cognitive and language function and, to the best of our knowledge, it has never been tested in a standardized way in GNAO1. GNAO1 children are usually wheelchair-bound and with numerous motor constrains, including dystonic movements and postures, heterotropia, and hypotonia, making the cognitive assessment arduous. These contribute to the burden and disability, with a high level of frustration of caregivers and patients. We have herein demonstrated that, through an eye tracking system, six GNAO1 patients evaluated showed variable degrees of communicative intent through intentionally directed gaze. Moreover, three of these were able to complete a cognitive evaluation, and showed normal fluid intelligence and lexical comprehension. In conclusion, in GNAO1-related disorders, the degree of cognitive development is underestimated; eye tracking technologies may help in overcome these boundaries. Full article

(This article belongs to the Special Issue Pediatric Neurology—Current Challenges and Future Perspectives)

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10 pages, 261 KiB

Open AccessArticle

Validity and Reliability of a Tool for Accelerometric Assessment of Balance in Scholar Children

by Jesús García-Liñeira, Raquel Leirós-Rodríguez, Vicente Romo-Pérez and Jose L. García-Soidán

J. Clin. Med. 2021, 10(1), 137; https://doi.org/10.3390/jcm10010137 - 03 Jan 2021

Cited by 5 | Viewed by 2699

Abstract

In Pediatrics, balance is assessed through low-sensitivity clinical tests which identify developmental alterations at already advanced stages that cannot be detected at earlier stages. Therefore, the aim of this study was to develop an easily applicable quantitative tool that can be used to [...] Read more.

In Pediatrics, balance is assessed through low-sensitivity clinical tests which identify developmental alterations at already advanced stages that cannot be detected at earlier stages. Therefore, the aim of this study was to develop an easily applicable quantitative tool that can be used to evaluate postural control. Consequently, a cross-sectional study was carried out with 91 healthy children. All of them performed a series of six accelerometric functional tests and four clinical tests of balance (Modified Flamingo Test, Bar Test, Babinski–Weil Test, and Fukuda Stepping Test). The Bar Test obtained mild inverse correlations with accelerations produced in the mediolateral axis and the root mean square of all the tests in monopodal support. The Flamingo Test obtained direct correlations with the root mean square of the tests in monopodal support and with the mediolateral axis of the monopodal tests and gait. The pediatric balance assessment scale consists of three factors and eleven items extracted from five accelerometric functional tests: the monopodal balance test with six items, normal gait test with three items, and bipodal balance test with two items. This tool is easy to apply and allows analysis in the evaluation of the balance state based on the accelerations of the center of mass. Full article

(This article belongs to the Special Issue Pediatric Neurology—Current Challenges and Future Perspectives)

23 pages, 699 KiB

Open AccessArticle

Abnormal Head Size in Children and Adolescents with Congenital Nervous System Disorders or Neurological Syndromes with One or More Neurodysfunction Visible since Infancy

by Lidia Perenc, Agnieszka Guzik, Justyna Podgórska-Bednarz and Mariusz Drużbicki

J. Clin. Med. 2020, 9(11), 3739; https://doi.org/10.3390/jcm9113739 - 20 Nov 2020

Cited by 6 | Viewed by 2283

Abstract

The current study was designed to investigate co-occurrence of absolute/relative microcephaly, absolute/relative macrocephaly and congenital nervous system disorders or neurological syndromes with symptoms visible since infancy, based on fundamental data acquired during the admission procedure at a neurological rehabilitation ward for children and [...] Read more.

The current study was designed to investigate co-occurrence of absolute/relative microcephaly, absolute/relative macrocephaly and congenital nervous system disorders or neurological syndromes with symptoms visible since infancy, based on fundamental data acquired during the admission procedure at a neurological rehabilitation ward for children and adolescents. The study applied a retrospective analysis of data collected during the hospitalization of 327 children and adolescents, aged 4–18 years, affected since infancy by congenital disorders of the nervous system and/or neurological syndromes associated with a minimum of one neurodysfunction. To identify subjects with absolute/relative microcephaly, absolute/relative macrocephaly in the group of children and adolescents, the adopted criteria took into account z-score values for head circumference (z-score hc) and head circumference index (z-score HCI). Dysmorphological (x+/−3s) and traditional (x+/−2s) criteria were adopted to diagnose developmental disorders of head size. Regardless of the adopted criteria, absolute macrocephaly often coexists with state after surgery of lumbar myelomeningocele and hydrocephalus, isolated hydrocephalus, hereditary motor and sensory polyneuropathy, and Becker’s muscular dystrophy (p < 0.001, p = 0.002). Absolute macrocephaly is often associated with neural tube defects and neuromuscular disorders (p = 0.001, p = 0.001). Relative microcephaly often occurs with non-progressive encephalopathy (p = 0.017, p = 0.029). Absolute microcephaly, diagnosed on the basis of traditional criteria, is often associated with epilepsy (p = 0.043). In children and adolescents with congenital nervous system disorders or neurological syndromes with one or more neurodysfunction visible since infancy, there is variation in abnormal head size (statistically significant relationships and clinical implications were established). The definitions used allowed for the differentiation of abnormal head size. Full article

(This article belongs to the Special Issue Pediatric Neurology—Current Challenges and Future Perspectives)

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14 pages, 3235 KiB

Open AccessArticle

Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders

by Min-Jee Kim, Mi-Sun Yum, Go Hun Seo, Yena Lee, Han Na Jang, Tae-Sung Ko and Beom Hee Lee

J. Clin. Med. 2020, 9(11), 3724; https://doi.org/10.3390/jcm9113724 - 20 Nov 2020

Cited by 5 | Viewed by 2614

Abstract

Background: The aim of this study was to describe the application of whole exome sequencing (WES) in the accurate genetic diagnosis and personalized treatment of extremely rare neurogenetic disorders. Methods: From 2017 to 2019, children with neurodevelopmental symptoms were evaluated using WES in [...] Read more.

Background: The aim of this study was to describe the application of whole exome sequencing (WES) in the accurate genetic diagnosis and personalized treatment of extremely rare neurogenetic disorders. Methods: From 2017 to 2019, children with neurodevelopmental symptoms were evaluated using WES in the pediatric neurology clinic and medical genetics center. The clinical presentation, laboratory findings including the genetic results from WES, and diagnosis-based treatment and outcomes of the four patients are discussed. Results: A total of 376 children with neurodevelopmental symptom were evaluated by WES, and four patients (1.1%) were diagnosed with treatable neurologic disorders. Patient 1 (Pt 1) showed global muscle hypotonia, dysmorphic facial features, and multiple anomalies beginning in the perinatal period. Pt 1 was diagnosed with congenital myasthenic syndrome 22 of PREPL deficiency. Pt 2 presented with hypotonia and developmental arrest and was diagnosed with autosomal recessive dopa-responsive dystonia due to TH deficiency. Pt 3, who suffered from intractable epilepsy and progressive cognitive decline, was diagnosed with epileptic encephalopathy 47 with a heterozygous FGF12 mutation. Pt 4 presented with motor delay and episodic ataxia and was diagnosed with episodic ataxia type II (heterozygous CACNA1A mutation). The patients’ major neurologic symptoms were remarkably relieved with pyridostigmine (Pt 1), levodopa (Pt 2), sodium channel blocker (Pt 3), and acetazolamide (Pt 4), and most patients regained developmental milestones in the follow-up period (0.4 to 3 years). Conclusions: The early application of WES helps in the identification of extremely rare genetic diseases, for which effective treatment modalities exist. Ultimately, WES resulted in optimal clinical outcomes of affected patients. Full article

(This article belongs to the Special Issue Pediatric Neurology—Current Challenges and Future Perspectives)

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Review

Jump to: Research

27 pages, 1806 KiB

Open AccessReview

Peripheral Nervous System Involvement in Non-Primary Pediatric Cancer: From Neurotoxicity to Possible Etiologies

by Stefano Pro, Luciana Vinti, Alessandra Boni, Angela Mastronuzzi, Martina Scilipoti, Margherita Velardi, Anna Maria Caroleo, Elisa Farina, Fausto Badolato, Iside Alessi, Giovanni Di Nardo, Andrea Carai, Massimiliano Valeriani, Antonino Reale, Pasquale Parisi and Umberto Raucci

J. Clin. Med. 2021, 10(14), 3016; https://doi.org/10.3390/jcm10143016 - 06 Jul 2021

Cited by 4 | Viewed by 3430

Abstract

Peripheral neuropathy is a well described complication in children with cancer. Oncologists are generally well aware of the toxicity of the main agents, but fear the side effects of new drugs. As chemotherapeutic agents have been correlated with the activation of the immune [...] Read more.

Peripheral neuropathy is a well described complication in children with cancer. Oncologists are generally well aware of the toxicity of the main agents, but fear the side effects of new drugs. As chemotherapeutic agents have been correlated with the activation of the immune system such as in Chemotherapy Induced Peripheral Neuropathy (CIPN), an abnormal response can lead to Autoimmune Peripheral Neuropathy (APN). Although less frequent but more severe, Radiation Induced Peripheral Neuropathy may be related to irreversible peripheral nervous system (PNS). Pediatric cancer patients also have a higher risk of entering a Pediatric Intensive Care Unit for complications related to therapy and disease. Injury to peripheral nerves is cumulative, and frequently, the additional stress of a malignancy and its therapy can unmask a subclinical neuropathy. Emerging risk factors for CIPN include treatment factors such as dose, duration and concurrent medication along with patient factors, namely age and inherited susceptibilities. The recent identification of individual genetic variations has advanced the understanding of physiopathological mechanisms and may direct future treatment approaches. More research is needed on pharmacological agents for the prevention or treatment of the condition as well as rehabilitation interventions, in order to allow for the simultaneous delivery of optimal cancer therapy and the mitigation of toxicity associated with pain and functional impairment. The aim of this paper is to review literature data regarding PNS complications in non-primary pediatric cancer. Full article

(This article belongs to the Special Issue Pediatric Neurology—Current Challenges and Future Perspectives)

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22 pages, 1009 KiB

Open AccessReview

Acute Movement Disorders in Childhood

by Giacomo Garone, Federica Graziola, Melissa Grasso and Alessandro Capuano

J. Clin. Med. 2021, 10(12), 2671; https://doi.org/10.3390/jcm10122671 - 17 Jun 2021

Cited by 1 | Viewed by 5688

Abstract

Acute-onset movement disorders (MDs) are an increasingly recognized neurological emergency in both adults and children. The spectrum of possible causes is wide, and diagnostic work-up is challenging. In their acute presentation, MDs may represent the prominent symptom or an important diagnostic clue in [...] Read more.

Acute-onset movement disorders (MDs) are an increasingly recognized neurological emergency in both adults and children. The spectrum of possible causes is wide, and diagnostic work-up is challenging. In their acute presentation, MDs may represent the prominent symptom or an important diagnostic clue in a broader constellation of neurological and extraneurological signs. The diagnostic approach relies on the definition of the overall clinical syndrome and on the recognition of the prominent MD phenomenology. The recognition of the underlying disorder is crucial since many causes are treatable. In this review, we summarize common and uncommon causes of acute-onset movement disorders, focusing on clinical presentation and appropriate diagnostic investigations. Both acquired (immune-mediated, infectious, vascular, toxic, metabolic) and genetic disorders causing acute MDs are reviewed, in order to provide a useful clinician’s guide to this expanding field of pediatric neurology. Full article

(This article belongs to the Special Issue Pediatric Neurology—Current Challenges and Future Perspectives)

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23 pages, 1730 KiB

Open AccessReview

Early Diagnostics and Early Intervention in Neurodevelopmental Disorders—Age-Dependent Challenges and Opportunities

by Mijna Hadders-Algra

J. Clin. Med. 2021, 10(4), 861; https://doi.org/10.3390/jcm10040861 - 19 Feb 2021

Cited by 59 | Viewed by 11265

Abstract

This review discusses early diagnostics and early intervention in developmental disorders in the light of brain development. The best instruments for early detection of cerebral palsy (CP) with or without intellectual disability are neonatal magnetic resonance imaging, general movements assessment at 2–4 months [...] Read more.

This review discusses early diagnostics and early intervention in developmental disorders in the light of brain development. The best instruments for early detection of cerebral palsy (CP) with or without intellectual disability are neonatal magnetic resonance imaging, general movements assessment at 2–4 months and from 2–4 months onwards, the Hammersmith Infant Neurological Examination and Standardized Infant NeuroDevelopmental Assessment. Early detection of autism spectrum disorders (ASD) is difficult; its first signs emerge at the end of the first year. Prediction with the Modified Checklist for Autism in Toddlers and Infant Toddler Checklist is possible to some extent and improves during the second year, especially in children at familial risk of ASD. Thus, prediction improves substantially when transient brain structures have been replaced by permanent circuitries. At around 3 months the cortical subplate has dissolved in primary motor and sensory cortices; around 12 months the cortical subplate in prefrontal and parieto-temporal cortices and cerebellar external granular layer have disappeared. This review stresses that families are pivotal in early intervention. It summarizes evidence on the effectiveness of early intervention in medically fragile neonates, infants at low to moderate risk, infants with or at high risk of CP and with or at high risk of ASD. Full article

(This article belongs to the Special Issue Pediatric Neurology—Current Challenges and Future Perspectives)

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