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Brain Sciences
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Neurodevelopmental Problems and Neurometabolic Disorders in Childhood
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Neurodevelopmental Problems and Neurometabolic Disorders in Childhood

A special issue of Brain Sciences (ISSN 2076-3425). This special issue belongs to the section "Developmental Neuroscience".

Deadline for manuscript submissions: closed (25 December 2020) | Viewed by 19871

Special Issue Editor

Prof. Dr. Soňa Nevšímalová

E-Mail Website
Guest Editor
Charles University in Prague, Department of Neurology, Center of Clinical Neurosciences, 1st Faculty of Medicine, General University Hospital in Prague, Prague, Czech Republic
Interests: Childhood sleep disorders; Disorders of sleep and vigilance; Central hypersomnias; Neurological diseases; Pediatric neurology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Developmental disorders include a group of neurologic and psychiatric conditions originating in early childhood. They comprise specific language impairment (developmental dysphasia), motor coordination disorder, learning disabilities, attention deficit and hyperactivity disorder (ADHD) and autistic spectrum disorders. The prevalence has an increasing tendency affecting almost 20 % of children´s population, more frequently boys. Most of them improve as the child grows older, but some entail impairments may continue throughout life. Causes are likely combination of genetic, biological, psychosocial and environmental risk factors.

Contrary to neurodevelopmental problems, neurometabolic disorders have a progressive clinical course, and most of them belong to rare (orphan) disease. They result from genetically determined abnormalities of enzymes with metabolic consequences affecting the development or functioning of the nervous system. Inborn errors of metabolism may present with acute neurological symptoms, particularly in neonates and infants, and if untreated may lead to permanent cerebral lesions or to death. Chronic conditions encompass progressive psychomotor retardation, seizures, sensorineural defects, movement disorders, neuromuscular signs, and psychiatric disturbances. Classification of disease entities may be based on cellular organelle involvement (predominantly lysosomal storage diseases) and/or dominant biochemical abnormality. Central nervous system involvement may be divided according to substance involvement - white matter involvement (leukodystrophies), gray matter involvement (poliodystrophies) or both.

Prof. Soňa Nevšímalová
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Brain Sciences is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2200 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Developmental diseases
  • Attention deficit/ Hyperactivity disorder
  • Autistic spectrum disorders
  • Orphan neurometabolic diseases
  • Inborn errors of metabolism
  • Mitochondrial disorders
  • Lysosomal storage diseases

Published Papers (4 papers)

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Research

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11 pages, 1234 KiB  
Article
Developmental Language Disorder: Wake and Sleep Epileptiform Discharges and Co-morbid Neurodevelopmental Disorders
by Olga Dlouha, Iva Prihodova, Jelena Skibova and Sona Nevsimalova
Brain Sci. 2020, 10(12), 910; https://0-doi-org.brum.beds.ac.uk/10.3390/brainsci10120910 - 26 Nov 2020
Cited by 5 | Viewed by 2316
Abstract
Developmental language disorder (DLD) is frequently associated with other developmental diseases and may lead to a handicap through adolescence or adulthood. The aim of our retrospective study was to characterize DLD subgroups, their etiological factors and clinical comorbidities, and the role of epileptiform [...] Read more.
Developmental language disorder (DLD) is frequently associated with other developmental diseases and may lead to a handicap through adolescence or adulthood. The aim of our retrospective study was to characterize DLD subgroups, their etiological factors and clinical comorbidities, and the role of epileptiform discharges in wake and sleep recordings. Fifty-five children (42 male, mean age 6.2 ± 1.4 years, range 4–9 years) were included in the present study and underwent phoniatric, psychologic, neurologic, as well as wake and nocturnal electroencephalography (EEG) or polysomnography (PSG) examinations. A receptive form of DLD was determined in 34 children (63.0%), and an expressive form was found in 20 children (37.0%). Poor cooperation in one child did not permit exact classification. DLD children with the receptive form had significantly lower mean phonemic hearing (79.1% ± 10.9) in comparison with those with the expressive form (89.7% ± 6.2, p < 0.001). A high amount of perinatal risk factors was found in both groups (50.9%) as well as comorbid developmental diseases. Developmental motor coordination disorder was diagnosed in 33 children (61.1%), and attention deficit or hyperactivity disorder was diagnosed in 39 children (70.9%). Almost one half of DLD children (49.1%) showed abnormalities on the wake EEG; epileptiform discharges were found in 20 children (36.4%). Nocturnal EEG and PSG recordings showed enhanced epileptiform discharges, and they were found in 30 children (55.6%, p = 0.01). The wake EEG showed focal discharges predominantly in the temporal or temporo-parieto-occipital regions bilaterally, while in the sleep recordings, focal activity was shifted to the fronto-temporo-central areas (p < 0.001). Almost all epileptiform discharges appeared in non-rapid eye movement (NREM) sleep. A close connection was found between DLD and perinatal risk factors, as well as neurodevelopmental disorders. Epileptiform discharges showed an enhancement in nocturnal sleep, and the distribution of focal discharges changed. Full article
(This article belongs to the Special Issue Neurodevelopmental Problems and Neurometabolic Disorders in Childhood)
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13 pages, 531 KiB  
Article
The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions
by Nicole Anteneová, Silvie Kelifová, Hana Kolářová, Alžběta Vondráčková, Iveta Tóthová, Petra Lišková, Martin Magner, Josef Zámečník, Hana Hansíková, Jiří Zeman, Markéta Tesařová and Tomáš Honzík
Brain Sci. 2020, 10(11), 766; https://0-doi-org.brum.beds.ac.uk/10.3390/brainsci10110766 - 22 Oct 2020
Cited by 8 | Viewed by 2149
Abstract
Background: In this retrospective study, we analysed clinical, biochemical and molecular genetic data of 47 Czech patients with Single, Large-Scale Mitochondrial DNA Deletions (SLSMD). Methods: The diagnosis was based on the long-range PCR (LX-PCR) screening of mtDNA isolated from muscle biopsy in 15 [...] Read more.
Background: In this retrospective study, we analysed clinical, biochemical and molecular genetic data of 47 Czech patients with Single, Large-Scale Mitochondrial DNA Deletions (SLSMD). Methods: The diagnosis was based on the long-range PCR (LX-PCR) screening of mtDNA isolated from muscle biopsy in 15 patients, and from the buccal swab, urinary epithelial cells and blood in 32 patients. Results: A total of 57% patients manifested before the age of 16. We did not find any significant difference between paediatric and adult manifestation in either the proportion of patients that would develop extraocular symptoms, or the timespan of its progression. The survival rate in patients with Pearson Syndrome reached 60%. Altogether, five patients manifested with atypical phenotype not fulfilling the latest criteria for SLSMD. No correlation was found between the disease severity and all heteroplasmy levels, lengths of the deletion and respiratory chain activities in muscle. Conclusions: Paediatric manifestation of Progressive External Ophthalmoplegia (PEO) is not associated with a higher risk of multisystemic involvement. Contrary to PEO and Kearns-Sayre Syndrome Spectrum, Pearson Syndrome still contributes to a significant childhood mortality. SLSMD should be considered even in cases with atypical presentation. To successfully identify carriers of SLSMD, a repeated combined analysis of buccal swab and urinary epithelial cells is needed. Full article
(This article belongs to the Special Issue Neurodevelopmental Problems and Neurometabolic Disorders in Childhood)
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Review

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30 pages, 481 KiB  
Review
Sleeping without Prescription: Management of Sleep Disorders in Children with Autism with Non-Pharmacological Interventions and Over-the-Counter Treatments
by Dario Esposito, Arianna Belli, Raffaele Ferri and Oliviero Bruni
Brain Sci. 2020, 10(7), 441; https://doi.org/10.3390/brainsci10070441 - 11 Jul 2020
Cited by 27 | Viewed by 9655
Abstract
Autism Spectrum Disorders (ASD) are lifelong neurodevelopmental conditions characterized by abnormal social interaction, communication, and behavior. Sleep disturbances represent a common comorbidity in children and adolescents with ASD, with prevalence ranging from 50 to 80%. It has been proved that sleep disruption worsens [...] Read more.
Autism Spectrum Disorders (ASD) are lifelong neurodevelopmental conditions characterized by abnormal social interaction, communication, and behavior. Sleep disturbances represent a common comorbidity in children and adolescents with ASD, with prevalence ranging from 50 to 80%. It has been proved that sleep disruption worsens the symptoms of autism and results in challenging behaviors. Improving sleep should therefore be a primary therapeutic goal. Treatment options range from lifestyle modifications to pharmacological therapy. Several reviews have been written on pharmacological treatments, but very few on the beneficial effects of non-pharmacological interventions, over-the-counter drugs, and nutritional supplements. This study consists of a narrative review of the literature, presenting the available evidence on the following treatments: sleep education, behavioral interventions, complementary and alternative medicine (special mattresses and blankets, massage, aromatherapy, yoga, physical activity), and commonly used over-the-counter medications and supplements (antihistamines, melatonin, tryptophan, carnosine, iron, vitamins, and herbal remedies). For some treatments—such as melatonin and behavioral interventions—effectiveness in ASD is well established in the literature, while other interventions appear of benefit in clinical practice, even if specific studies in children and adolescents with ASD are lacking. Conversely, other treatments only seem to show anecdotal evidence supporting their use. Full article
(This article belongs to the Special Issue Neurodevelopmental Problems and Neurometabolic Disorders in Childhood)
15 pages, 631 KiB  
Review
Neurodevelopmental Consequences of Pediatric Cancer and Its Treatment: The Role of Sleep
by Maria Paola Mogavero, Oliviero Bruni, Lourdes M. DelRosso and Raffaele Ferri
Brain Sci. 2020, 10(7), 411; https://0-doi-org.brum.beds.ac.uk/10.3390/brainsci10070411 - 01 Jul 2020
Cited by 16 | Viewed by 4630
Abstract
Cognitive impairment is frequent in pediatric cancer, and behavioral and psychological disturbances often also affect children who have survived cancer problems. Furthermore, pediatric tumors are also often associated with sleep disorders. The interrelationship between sleep disorders, neurodevelopmental disorders and pediatric cancer, however, is [...] Read more.
Cognitive impairment is frequent in pediatric cancer, and behavioral and psychological disturbances often also affect children who have survived cancer problems. Furthermore, pediatric tumors are also often associated with sleep disorders. The interrelationship between sleep disorders, neurodevelopmental disorders and pediatric cancer, however, is still largely unexplored. In this narrative review we approach this important aspect by first considering studies on pediatric cancer as a possible cause of neurodevelopmental disorders and then describing pediatric cancer occurring as a comorbid condition in children with neurodevelopmental disorders. Finally, we discuss the role of sleep disorders in children with cancer and neurodevelopmental disorders. Even if the specific literature approaching directly the topic of the role of sleep in the complex relationship between pediatric cancer and neurodevelopmental disorders was found to be scarce, the available evidence supports the idea that in-depth knowledge and correct management of sleep disorders can definitely improve the health and quality of life of children with cancer and of their families. Full article
(This article belongs to the Special Issue Neurodevelopmental Problems and Neurometabolic Disorders in Childhood)
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