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Journal of Child Neurology

Marc DiSabella, Heather Walsh, Rachel Sarnacki, Ellen Goldman
The goal of medical residency programs is to provide educational opportunities to residents to facilitate their transformation into independent and competent health care practitioners. Despite an abundance of quantitative data on resident performance, qualitative data are lacking in published literature. Our study involved a standardized interview with all graduating child neurology residents to better understand their educational experiences during training. Qualitative data analysis resulted in 5 basic themes experienced by all trainees: (1) appreciation for faculty supportiveness, (2) appreciation for faculty receptiveness to feedback, (3) the difficulty of balancing clinical and academic demands during residency, (4) the benefit of structured mentorship and research, and (5) the value of independent and experiential learning...
September 13, 2018: Journal of Child Neurology
Paul J Orchard
No abstract text is available yet for this article.
September 11, 2018: Journal of Child Neurology
Eliza Gordon-Lipkin, Julie S Cohen, Siddharth Srivastava, Bruno P Soares, Eric Levey, Ali Fatemi
GM3 synthase deficiency is due to biallelic pathogenic variants in ST3GAL5, which encodes a sialyltransferase that synthesizes ganglioside GM3. Key features of this rare autosomal recessive condition include profound intellectual disability, failure to thrive and infantile onset epilepsy. We expand the phenotypic spectrum with 3 siblings who were found by whole exome sequencing to have a homozygous pathogenic variant in ST3GAL5, and we compare these cases to those previously described in the literature. The siblings had normal birth history, subsequent developmental stagnation, profound intellectual disability, choreoathetosis, failure to thrive, and visual and hearing impairment...
September 5, 2018: Journal of Child Neurology
Ananyaa Kumar, Csaba Juhász, Aimee Luat, Tuhina Govil-Dalela, Michael E Behen, Melissa A Hicks, Harry T Chugani
Three children with drug-refractory epilepsy, normal magnetic resonance image (MRI), and a heterozygous SCN1A variant underwent 2-deoxy-2-[18 F]fluoro-d-glucose positron emission tomography (FDG-PET) scanning between age 6 months and 1 year and then at age 3 years 6 months to 5 years 5 months. Regional FDG uptake values were compared to those measured in age- and gender-matched pseudo-controls. At baseline, the brain glucose metabolic pattern in the SCN1A group was similar to that of the pseudo-controls. At follow-up, robust decreases of normalized FDG uptake was found in bilateral frontal, parietal and temporal cortex, with milder decreases in occipital cortex...
September 5, 2018: Journal of Child Neurology
Stacey Evans, Jeffrey Smith, Elena Caron
A 13-year-old African American male presented with 2 months of subacute altered mental status, ptosis, areflexia, disordered gait, constipation, weight loss, abdominal and testicular pain, and hyperhidrosis. Initial workup at our facility was unrevealing until elevated serum mercury level was detected. Diagnosis of mercury toxicity was confirmed, and chelation therapy with succimer was started. After beginning succimer, the patient developed acute-onset weakness and was diagnosed with acute inflammatory demyelinating polyneuropathy...
August 28, 2018: Journal of Child Neurology
Leen Hijazi, Amna Kashgari, Majid Alfadhel
Multiple sulfatase deficiency is an autosomal recessive lysosomal storage disorder due to a deficiency in formylglycine-generating enzyme, which is encoded by the Sulfatase Modifying Factor 1 ( SUMF1) gene. Clinically, the disorder is variable. The most common characteristics are developmental regression, intellectual disability, ichthyosis, and periventricular white matter disease. Herein, we report 6 Saudi patients with multiple sulfatase deficiency caused by a novel homozygous missense mutation in the SUMF1 gene (NM_182760...
August 20, 2018: Journal of Child Neurology
Eliza Gordon-Lipkin, Ali Fatemi
Leukodystrophies are a heterogeneous class of genetic diseases affecting the white matter in the central nervous system with a broad range of clinical manifestations and a frequently progressive course. An interest in precision medicine has emerged over the last several decades, and biomedical research in leukodystrophies has made exciting advances along this front through therapeutic target discovery and novel disease model systems. In this review, we discuss current and emerging therapeutic approaches in leukodystrophies, including gene therapy, antisense oligonucleotide therapy, CRISPR/CAS-based gene editing, and cell and stem cell based therapies...
August 16, 2018: Journal of Child Neurology
Harry T Chugani
In this review, we discuss molecular brain imaging studies using positron emission tomography (PET) with 2-deoxy-2(18 F)fluoro-d-glucose (FDG) in human newborns and infants, and illustrate how this technology can be applied to probe the neuropathophysiology of neonatal neurologic disorders. PET studies have been difficult to perform in sick babies because of patient transportation issues and suboptimal spatial resolution. With approval from the FDA and the institutional review board, we modified and installed the Focus 220 animal microPET scanner (Concorde Microsystems, Knoxville, TN) directly in our neonatal intensive care unit in Children's Hospital of Michigan and verified the high spatial resolution (<2 mm full-width-at-half-maximum) of this microPET...
August 16, 2018: Journal of Child Neurology
(no author information available yet)
No abstract text is available yet for this article.
August 15, 2018: Journal of Child Neurology
Elizabeth Ristagno, Sonam C Bhalla, Lindsey K Rasmussen
This article aims to describe a rare cause of severe encephalitis in 2 cases of infants with signs of intracranial hypertension and severe autonomic dysregulation. The authors conclude that human parechoviruses are becoming a more recognized cause of encephalitis because of the increasing use of rapid detection methods. With early recognition of this clinical entity, improved care can be administered.
August 14, 2018: Journal of Child Neurology
Jasna Jancic, Vesna Djuric, Boris Hencic, John N van den Anker, Janko Samardzic
Migraine and epilepsy are classified as chronic paroxysmal neurologic disorders sharing many clinical features, as well as possible treatment options. This review highlights the similarities between migraine and epilepsy in pediatrics, focusing on epidemiologic, pathophysiological, genetic, clinical, and pharmacologic aspects. Despite the fact that several syndromes share symptoms of both migraine and epilepsy, further research is needed to clarify the pathophysiological and genetic basis of their comorbidity...
August 10, 2018: Journal of Child Neurology
David R Howell, Anna N Brilliant, Eileen P Storey, Olivia E Podolak, William P Meehan, Christina L Master
Quantification of visual deficits may help to identify dysfunction following concussion. We evaluated eye-tracking measurements among adolescents within 10 days of concussion and healthy control participants. Patients who reported to 2 tertiary care sport concussion clinics within 10 days of concussion completed an objective eye tracking assessment. Seventy-nine participants completed the study, 44 with concussion (mean age = 14.1 ± 2.2 years, 39% female) and 35 controls (mean age = 14.3 ± 2.4 years, 57% female)...
August 8, 2018: Journal of Child Neurology
Susan Sklower Brooks, Sharon Anderson, Vikram Bhise, Christina Botti
Ribose-5-phosphate isomerase deficiency, a disorder of the pentose phosphate shunt, was described in 1999. There are 2 previously reported cases of ribose-5-phosphate isomerase deficiency. Here, we describe the clinical course, diagnostic odyssey, and molecular findings in the third case of ribose-5-phosphate isomerase deficiency to further delineate the syndrome. Whole-exome sequencing demonstrated 2 mutations in the ribose-5-phosphate isomerase gene, RPIA, in a child with neonatal onset leukoencephalopathy and psychomotor delays...
August 8, 2018: Journal of Child Neurology
Gary N McAbee
Current guidelines permitting return to play for athletes who have sustained a concussion rely on resolution of cognitive and physical symptoms. Evolving evidence suggest that vascular, radiologic and cerebral metabolic abnormalities persist in some athletes beyond the period of clinical recovery. This commentary addresses these issues and raises a question as to whether physicians are permitting pediatric athletes with concussion to return to play too soon after concussion.
August 2, 2018: Journal of Child Neurology
Terence D Sanger, Aaron Robison, Enrique Arguelles, Diana Ferman, Mark Liker
BACKGROUND: Deep brain stimulation for secondary dystonia has been limited by unknown optimal targets for individual children. OBJECTIVES: We report the first case of a 7-year-old girl with severe generalized dystonia due to acquired striatal necrosis in whom we used a new method for identifying targets for deep brain stimulation. METHODS: We implanted temporary depth electrodes in 5 different nuclei bilaterally in the basal ganglia and thalamus, with test stimulation and recording during 1 week while the child was an inpatient in a neuromodulation monitoring unit...
August 1, 2018: Journal of Child Neurology
Emily de Los Reyes, John Bodensteiner
No abstract text is available yet for this article.
October 2018: Journal of Child Neurology
Nigel S Bamford, Darryl C De Vivo
No abstract text is available yet for this article.
October 2018: Journal of Child Neurology
David M Kaufman, N Paul Rosman
No abstract text is available yet for this article.
October 2018: Journal of Child Neurology
Duygu Çubukçu, Orkide Güzel, Nur Arslan
AIMS: To investigate the effect of ketogenic diet on motor function and daily living activities in children with epilepsy. METHODS: A total of 62 children (median age 5.0 years) were enrolled. Motor function was assessed using the Gross Motor Function Measure (GMFM), and daily living activities and cognitive functions were assessed using the Functional Independence Measure (WeeFIM) before treatment and 3, 6, and 12 months after ketogenic diet treatment. RESULTS: Significant improvement in total GMFM and WeeFIM scores ( P < ...
October 2018: Journal of Child Neurology
Linda Nguyen, Briano Di Rezze, Ronit Mesterman, Peter Rosenbaum, Jan Willem Gorter
Children and adolescents with cerebral palsy often receive botulinum toxin A (BoNT-A) to manage hypertonia. This qualitative study aimed to describe and categorize BoNT-A effects that parents observed using the WHO's International Classification of Functioning, Disability and Health (ICF) framework. An interpretive description methodology was used; semi-structured interviews were conducted with 15 parents of nonambulatory young people with cerebral palsy (mean age 10.2 years, SD 3.9, 7 males) who received BoNT-A...
October 2018: Journal of Child Neurology
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