Κυριακή, 24 Φεβρουαρίου 2019

Developmental Disorders Child Neurology Open https://journals.sagepub.com/

Vibration-Assisted Home Training Program for Children With Spinal Muscular Atrophy
Christina Stark, MSc12, Ibrahim Duran, MD3, Sebahattin Cirak, MD, Dipl-Chem4, Stefanie Hamacher, MSc5, Heike-Katharina Hoyer-Kuhn, MD1, Oliver Semler, MD16, Eckhard Schoenau, MD123
Child Neurology Open, vol. 5, First Published June 10, 2018.
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The aim of this study was to determine the effect of a new method of vibration-assisted neuromuscular rehabilitation in patients with spinal muscular atrophy types II and III. In this retrospective observational study, 38 children (mean age: 4.64 ± 1.95 years) were analyzed. The physiotherapy program, Auf die Beine, combines 6 months of home-based side-alternating whole-body vibration with interval blocks of intensive, goal-directed rehabilitation: 13 days at the start and 6 days after 3 months. Assessments were applied at the beginning (M0), after 6 months of home-based training (M6), and after 6 months of follow-up (M12). Motor abilities were assessed by the Gross Motor Function Measure 66 and Hammersmith Functional Mobility Scale. The Gross Motor Function Measure showed an increase of 1.69 (3.73) points (P = .124) and the Hammersmith Functional Mobility Scale a significant increase of 2.73 ± 1.79 points (P = .007) after 12 months; however, whether this leads to a long-term clinical benefit requires further investigation.

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Clinical Profile of Pediatric Neurological Disorders: Outpatient Department, Khartoum, Sudan
Inaam Noureldyme Mohamed, MD1, Maha Abdelmoneum Elseed, MRCPCH1, Ahlam Abdalrhman Hamed, MD1
Child Neurology Open, vol. 3, First Published April 4, 2016.
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Background:
There is no available data from Sudan reflecting the magnitude of the neurological disorders and disabilities in the pediatric age-group. This study aims to evaluate the pattern of neurological disorders among Sudanese children.

Patients and Methods:
This is a retrospective survey of children with epilepsy and other neurodisability disorders seen at pediatric neurology outpatient clinic, during the period from January 2007 to August 2013. The data of 9600 patients were analyzed.

Results:
A total of 6019 patients were included in the study. The majority of the patients had epilepsy that amounted to 52.8%, followed by cerebral palsy (19.1%), congenital anomalies of the central nervous system (6.2%), neuromuscular disorders (3.2%), stroke (2.4%), ataxia and movement disorders (1.9%), assumed genetic syndromes (1.2%), and others.

Conclusion:
Neurological disorders constitute a major cause of chronic morbidity in pediatric age-group.

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Vein of Galen Aneurysmal Malformation in Neonates Presenting With Congestive Heart Failure
Andjenie Madhuban, MD1, Freek van den Heuvel, MD, PhD2, Margriet van Stuijvenberg, MD, PhD2
Child Neurology Open, vol. 3, First Published April 4, 2016.
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The authors report the case of a neonate presenting with signs of a congenital cardiac disease. Echocardiography showed a structural normal heart, right-to-left ductal flow, a dilated superior caval vein, and reversed diastolic flow in the proximal descending aorta. Brain magnetic resonance imaging showed a vein of Galen arteriovenous malformation. This highlights the importance of considering an intracranial cause in the differential diagnosis of neonatal congestive heart failure.

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Chromosome 12p Deletion Spanning the GRIN2B Gene Presenting With a Neurodevelopmental Phenotype: A Case Report and Review of Literature
Navin Mishra, MD1, Elizabeth Kouzmitcheva, MD2, Angela Orsino, FRCPC3, Berge A. Minassian, FRCPC24
Child Neurology Open, vol. 3, First Published April 4, 2016.
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The GRIN2B (glutamate receptor, ionotropic, N-methyl-d-aspartate 2B) gene, located in the short arm of chromosome 12, encoding the NR2B subunit of the N-methyl-D-aspartate receptor, has recently been recognized to play an important role in corticogenesis and brain plasticity. Deletions in the short arm of chromosome 12 are rare. Hemizygous loss of function of the GRIN2B gene results in developmental delay, whereas gain of function leads to epilepsy, and infantile spasms in particular. In addition, GRIN2B variants have been associated with autism spectrum disorder and schizophrenia. Here the authors report a child with global developmental delay, autistic behavioural features, central hypotonia, dysmorphic features and isolated congenital anomalies of the fingers and toes, and a de novo heterozygous deletion in chromosome locus 12p13.2-p13.1, involving loss of several genes, including GRIN2B. This report and our review of the literature help clarify the distinct phenotypes associated with loss or gain of GRIN2B function.

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MECP2 Duplications in Symptomatic Females: Report on 3 Patients Showing the Broad Phenotypic Spectrum
Victoria San Antonio-Arce, MD1, María Fenollar-Cortés, PhD2, Raluca Oancea Ionescu, PhD2, Teresa DeSantos-Moreno, PhD1, Jesús Gallego-Merlo3, Francisco José Illana Cámara2, María Carmen Cotarelo Pérez, MD2
Child Neurology Open, vol. 3, First Published April 4, 2016.
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Xq28 microduplications including the MECP2 gene constitute a 100% penetrant X-linked syndrome in males caused by overexpression of normal MeCP2 protein. A small number of cases of affected females have been reported. This can be due to the location of the duplicated material into an autosome, but it can also be due to the location of the duplicated material into one of the X chromosomes and random or unfavorable skewed X chromosome inactivation, which is much more likely to occur but may be underdiagnosed because of the resulting broad phenotypic spectrum. In order to contribute to the phenotypic delineation of Xq28 microduplications including MECP2 in symptomatic females, the authors present clinical and molecular data on 3 patients illustrating the broad phenotypic spectrum. Our finding underlines the importance of quantitative analysis of MECP2 in females with intellectual disability and raises the question of the indication in females with borderline intellectual performances or learning difficulties.

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Brain Inflammation in an Infant With Hemimegalencephaly, Escalating Seizures, and Epileptic Encephalopathy
Se Hee Kim, MD1, John J. Millichap, MD1, Sookyong Koh, MD, PhD2
Child Neurology Open, vol. 3, First Published April 4, 2016.
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Hemimegalencephaly, a congenital brain malformation typically characterized by enlargement of one hemisphere, is frequently associated with intractable epilepsy. The authors report a case of a 12-month-old girl with hemimegalencephaly who underwent semiurgent hemispherectomy because of rapidly escalating seizures, arrested development, and associated encephalopathy. The brain tissue was examined and evaluated for neuroinflammation. Immunohistochemical analysis of the brain tissue revealed the presence of abundant activated CD68-positive microglia and reactive astrogliosis. Detection of active inflammatory changes in the brain of a patient with hemimegalencephaly complicated by intractable epilepsy suggests a potential role of ongoing brain inflammation in seizure exacerbation and epileptic encephalopathy.

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An Unusual Triad in Pediatric Neurology: A Case Report on Cerebral Palsy, Epilepsy, and Duchenne Muscular Dystrophy
Ruben G. F. Hendriksen, BSc1, Marlien W. Aalbers, MD, PhD12, Jos G. M. Hendriksen, PhD13, Christine E. M. de Die-Smulders, MD, PhD45, Govert Hoogland, PhD67, Johan S. H. Vles, MD, PhD13
Child Neurology Open, vol. 3, First Published April 19, 2016.
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We present a case of an unusual triad in pediatric neurology: a currently 12-year-old boy with cerebral palsy and epilepsy who was later also diagnosed with Duchenne muscular dystrophy. We describe the clinical path that resulted in this exceptional diagnosis. This case report illustrates how different neurological disorders may overshadow each other. In addition, it demonstrates that every child with cerebral palsy and either an atypical clinical course or with inexplicable laboratory values—as well as every infant boy born to a theoretical Duchenne muscular dystrophy carrier—should be subjected to additional investigations.

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De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome
Anand Ramineni, BSc, MBBS, GSCpMed1234, David Coman, MBBS, MPhil, FRACP12345
Child Neurology Open, vol. 3, First Published September 1, 2016.
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Interstitial deletions affecting the long arm of chromosome 3 have been associated with a broad phenotype. This has included the features of blepharophimosis–ptosis–epicanthus inversus syndrome, Dandy-Walker malformation, and the rare Wisconsin syndrome. The authors report a young female patient presenting with features consistent with all 3 of these syndromes. This has occurred in the context of a de novo 3q22.3q24 microdeletion including FOXL2, ZIC1, and ZIC4. This patient provides further evidence for the role of ZIC1 and ZIC4 in Dandy-Walker malformation and is the third reported case of Dandy-Walker malformation to have associated corpus callosum thinning. This patient is also only the seventh to be reported with the rare Wisconsin syndrome phenotype.

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Assessing Children With Disabilities Using WHO International Classification of Functioning, Disability and Health Child and Youth Version Activities and Participation D Codes
Niels Ove Illum, MD1, Kim Oren Gradel, PhD23
Child Neurology Open, vol. 2, 4, First Published October 28, 2015.
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Aim:
Evaluation of the International Classification of Functioning, Disability and Health child and youth version (ICF-CY) activities and participation d code functions in clinical practice with children across diagnoses, disabilities, ages, and genders.

Methods:
A set of 57 codes were selected and worded to describe children's support needs in everyday life. Parents of children aged 1 to 15 years participated in interviews to discuss and rate their child's disability.

Results:
Of 367 invited parents, 332 (90.5%) participated. The mean age of their children with disability was 9.4 years. The mean code scores were 50.67, the corrected code–total correlations were .76, intercode correlations had the mean of 0.61, and Cronbach's α was .98. As a result of Rasch analysis, graphical data for disability measures paralleled clinical expectations across the total population of 332 children.

Conclusion:
The World Health Organization International Classification of Functioning, Disability and Health child and youth version d code data can provide a coherent measure of severity of disability in children across various diagnoses, ages, and genders.

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Is Chromosome 15q13.3 Duplication Involving CHRNA7 Associated With Oral Clefts?
Yingjun Xie, PhD12
Child Neurology Open, vol. 2, 4, First Published December 14, 2015.
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Copy number variants have been associated with intellectual disability, multiple congenital anomalies and craniofacial disorders. It has been reported that microduplication of 15q13.3 is associated with autism, cognitive impairment, seizures, and attention-deficit hyperactivity disorder. Here, the author identified microduplications in the 15q13.3 region in 4 cases from 3 Chinese families using chromosomal microarray analysis–single nucleotide polymorphism array (CMA-SNP). These 4 cases include 2 fetuses from 2 unrelated families and a father and a daughter from a third family. The identified microduplications of 15q13.3 are approximately 400 kb in size, encompassing just 1 gene, cholinergic receptor, neuronal nicotinic, alpha polypeptide 7 (CHRNA7). Three-fourths of the probands exhibit oral clefts, which has not been previously reported in cases with this duplication genotype. Therefore, in this study, the author describes for the first time the common feature of oral clefts in patients carrying a microduplication of 15q13.3 encompassing the CHRNA7 gene, which sheds light on the correlation between CHRNA7 and cleft palate.

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Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature
Inga Talvik, MD, PhD12, Rikke S. Møller, MSc, PhD34, Merilin Vaher, MD2, Ulvi Vaher, MD2, Line HG Larsen, MSc45, Hans A. Dahl, MSc, PhD45, Pilvi Ilves, MD, PhD6, Tiina Talvik, MD, PhD12
Child Neurology Open, vol. 2, 2, First Published May 5, 2015.
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Mutations in the guanine nucleotide-binding protein (G protein), α activating activity polypeptide O (GNAO1) gene have recently been described in 6 patients with early infantile epileptic encephalopathies. In the present study, we report the phenotype and the clinical course of a 4-year-old female with an epileptic encephalopathy (Ohtahara syndrome) and profound intellectual disability due to a de novo GNAO1 mutation (c.692A>G; p.Tyr231Cys). Ohtahara syndrome is a devastating early infantile epileptic encephalopathy that can be caused by mutations in different genes, now also including GNAO1. The mutation was found using a targeted next generation sequencing gene panel and demonstrates targeted sequencing as a powerful tool for identifying mutations in genes where only a few de novo mutations have been identified.

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Encephalocraniocutaneous Lipomatosis: A Rare Association With Tethered Spinal Cord Syndrome With Review of Literature
Amal Naous, MD1, Abdel Rahman Shatila, MD1, Zeina Naja, MD1, Ahmad Salaheddine Naja, MD1, Mariam Rajab, MD1
Child Neurology Open, vol. 2, 1, First Published February 13, 2015.
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Encephalocraniocutaneous lipomatosis or Haberland syndrome is a rare, congenital neurocutaneous syndrome. It is characterized by unilateral lipomatous hamartomata of the scalp, eyelid, and outer globe of the eye and ipsilateral neurologic malformations. We describe the first case from Lebanon, an infant with classical encephalocraniocutaneous lipomatosis characterized by nevus psiloliparus, unilateral right facial and frontal–temporal subcutaneous lipomas, alopecia, ocular coloboma, aniridia and eyelid nodular tags, ventriculomegaly with intracranial and intraspinal lipomas, and tethered spinal cord. We report this case of rare association between encephalocraniocutaneous lipomatosis and tethered spinal cord syndrome and stress on the importance of spinal cord evaluation in encephalocraniocutaneous lipomatosis.

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FOXG1 Mutation is a Low-Incidence Genetic Cause in Atypical Rett Syndrome
Christine K. Byun1, Jin Sook Lee, MD1, Byung Chan Lim, MD1, Ki Joong Kim, MD, PhD1, Yong Seung Hwang, MD, PhD1, Jong-Hee Chae, MD, PhD1
Child Neurology Open, vol. 2, 1, First Published February 10, 2015.
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Due to the genetic and clinical heterogeneity of Rett syndrome, patients with nonclassic phenotypes are classified as an atypical Rett syndrome, that is, preserved speech variant, early seizure variant, and congenital variant. Respectively, MECP2, CDKL5, and FOXG1 have been found to be the causative genes, but FOXG1 variants are the rarest and least studied. We performed mutational analyses for FOXG1 on 11 unrelated patients without MECP2 and CDKL5 mutations, who were diagnosed with atypical Rett syndrome. One patient, who suffered from severe early-onset mental retardation and multiple-type intractable seizures, carried a novel, de novo FOXG1 mutation (p.Gln70Pro). This case concurs with previous studies that have reported yields of ∼10%. FOXG1-related atypical Rett syndrome is rare in Korean population, but screening of this gene in patients with severe mental retardation, microcephaly, and early-onset multiple seizure types without specific genetic causes can help broaden the phenotypic spectrum of the distinct FOXG1-related syndrome.

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Childhood-Onset Progressive Dystonia With Mitochondrial DNA G14459A Mutation: Efficacy of Long-Term Sodium Succinate Treatment
Ayaka Koide, MD, PhD1, Hiroshi Ozawa, MD, PhD2, Masaya Kubota, MD, PhD3, Yuichi Goto, MD, PhD4
Child Neurology Open, vol. 1, 1, First Published November 10, 2014.
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This article reports the case of an 11-year-old boy with progressive dystonia caused by the homoplasmic G14459A mitochondrial DNA mutation. The patient presented with focal dystonia in the right upper limb at 3 years of age, which progressed over 4 years to exhibit dystonia in both the upper and lower limbs. At 7 years of age, high signal intensity lesions in the bilateral striata and the midbrain were observed on fluid-attenuated inversion recovery images. It was observed on diffusion-weighted images that with time, these high signal intensity lesions migrated from the putamen to the caudate nuclei, which closely correlated with disease progression. Because his symptoms and abnormal magnetic resonance imaging findings progressed despite treatment with coenzyme Q10 and l-carnitine, at 7 years of age he was then started on sodium succinate, hoping to improve his complex I deficiency. After treatment, progression of MRI abnormalities appeared to have been suppressed for 4 years, although no improvement was observed in dystonia.

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