Publisher: Sage Publications   (Total: 1166 journals)

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Showing 1 - 200 of 1166 Journals sorted alphabetically
AADE in Practice     Hybrid Journal   (Followers: 6)
Abstracts in Anthropology     Full-text available via subscription   (Followers: 29)
Academic Pathology     Open Access   (Followers: 6)
Accounting History     Hybrid Journal   (Followers: 18, SJR: 0.527, CiteScore: 1)
Acta Radiologica     Hybrid Journal   (Followers: 1, SJR: 0.754, CiteScore: 2)
Acta Radiologica Open     Open Access   (Followers: 2)
Acta Sociologica     Hybrid Journal   (Followers: 39, SJR: 0.939, CiteScore: 2)
Action Research     Hybrid Journal   (Followers: 53, SJR: 0.308, CiteScore: 1)
Active Learning in Higher Education     Hybrid Journal   (Followers: 396, SJR: 1.397, CiteScore: 2)
Adaptive Behavior     Hybrid Journal   (Followers: 9, SJR: 0.288, CiteScore: 1)
Administration & Society     Hybrid Journal   (Followers: 18, SJR: 0.675, CiteScore: 1)
Adoption & Fostering     Hybrid Journal   (Followers: 25, SJR: 0.313, CiteScore: 0)
Adsorption Science & Technology     Open Access   (Followers: 9, SJR: 0.258, CiteScore: 1)
Adult Education Quarterly     Hybrid Journal   (Followers: 258, SJR: 0.566, CiteScore: 2)
Adult Learning     Hybrid Journal   (Followers: 51)
Advances in Dental Research     Hybrid Journal   (Followers: 11, SJR: 1.791, CiteScore: 4)
Advances in Developing Human Resources     Hybrid Journal   (Followers: 35, SJR: 0.614, CiteScore: 2)
Advances in Mechanical Engineering     Open Access   (Followers: 156, SJR: 0.272, CiteScore: 1)
Advances in Methods and Practices in Psychological Science     Full-text available via subscription   (Followers: 20)
Advances in Structural Engineering     Full-text available via subscription   (Followers: 51, SJR: 0.599, CiteScore: 1)
AERA Open     Open Access   (Followers: 14)
Affilia     Hybrid Journal   (Followers: 6, SJR: 0.496, CiteScore: 1)
Africa Spectrum     Open Access   (Followers: 17)
Agrarian South : J. of Political Economy     Hybrid Journal   (Followers: 3)
Air, Soil & Water Research     Open Access   (Followers: 13, SJR: 0.214, CiteScore: 1)
Alexandria : The J. of National and Intl. Library and Information Issues     Full-text available via subscription   (Followers: 68)
Allergy & Rhinology     Open Access   (Followers: 5)
AlterNative : An Intl. J. of Indigenous Peoples     Full-text available via subscription   (Followers: 39, SJR: 0.194, CiteScore: 0)
Alternative Law J.     Hybrid Journal   (Followers: 12, SJR: 0.176, CiteScore: 0)
Alternatives : Global, Local, Political     Hybrid Journal   (Followers: 12, SJR: 0.351, CiteScore: 1)
Alternatives to Laboratory Animals     Full-text available via subscription   (Followers: 11, SJR: 0.297, CiteScore: 1)
American Behavioral Scientist     Hybrid Journal   (Followers: 26, SJR: 0.982, CiteScore: 2)
American Economist     Hybrid Journal   (Followers: 7)
American Educational Research J.     Hybrid Journal   (Followers: 259, SJR: 2.913, CiteScore: 3)
American J. of Alzheimer's Disease and Other Dementias     Hybrid Journal   (Followers: 23, SJR: 0.67, CiteScore: 2)
American J. of Cosmetic Surgery     Hybrid Journal   (Followers: 9)
American J. of Evaluation     Hybrid Journal   (Followers: 18, SJR: 0.646, CiteScore: 2)
American J. of Health Promotion     Hybrid Journal   (Followers: 35, SJR: 0.807, CiteScore: 1)
American J. of Hospice and Palliative Medicine     Hybrid Journal   (Followers: 47, SJR: 0.65, CiteScore: 1)
American J. of Law & Medicine     Full-text available via subscription   (Followers: 12, SJR: 0.204, CiteScore: 1)
American J. of Lifestyle Medicine     Hybrid Journal   (Followers: 7, SJR: 0.431, CiteScore: 1)
American J. of Medical Quality     Hybrid Journal   (Followers: 13, SJR: 0.777, CiteScore: 1)
American J. of Men's Health     Open Access   (Followers: 9, SJR: 0.595, CiteScore: 2)
American J. of Rhinology and Allergy     Hybrid Journal   (Followers: 11, SJR: 0.972, CiteScore: 2)
American J. of Sports Medicine     Hybrid Journal   (Followers: 249, SJR: 3.949, CiteScore: 6)
American Politics Research     Hybrid Journal   (Followers: 36, SJR: 1.313, CiteScore: 1)
American Review of Public Administration     Hybrid Journal   (Followers: 28, SJR: 2.062, CiteScore: 2)
American Sociological Review     Hybrid Journal   (Followers: 356, SJR: 6.333, CiteScore: 6)
American String Teacher     Full-text available via subscription   (Followers: 3)
Analytical Chemistry Insights     Open Access   (Followers: 26, SJR: 0.224, CiteScore: 1)
Angiology     Hybrid Journal   (Followers: 5, SJR: 0.849, CiteScore: 2)
Animation     Hybrid Journal   (Followers: 15, SJR: 0.197, CiteScore: 0)
Annals of Clinical Biochemistry     Hybrid Journal   (Followers: 10, SJR: 0.634, CiteScore: 1)
Annals of Otology, Rhinology & Laryngology     Hybrid Journal   (Followers: 20, SJR: 0.807, CiteScore: 1)
Annals of Pharmacotherapy     Hybrid Journal   (Followers: 59, SJR: 1.096, CiteScore: 2)
Annals of the American Academy of Political and Social Science     Hybrid Journal   (Followers: 51, SJR: 1.225, CiteScore: 3)
Annals of the ICRP     Hybrid Journal   (Followers: 4, SJR: 0.548, CiteScore: 1)
Anthropocene Review     Hybrid Journal   (Followers: 8, SJR: 3.341, CiteScore: 7)
Anthropological Theory     Hybrid Journal   (Followers: 48, SJR: 0.739, CiteScore: 1)
Antitrust Bulletin     Hybrid Journal   (Followers: 14)
Antiviral Chemistry and Chemotherapy     Open Access   (Followers: 2, SJR: 0.635, CiteScore: 2)
Antyajaa : Indian J. of Women and Social Change     Hybrid Journal   (Followers: 1)
Applied Biosafety     Hybrid Journal   (Followers: 1, SJR: 0.131, CiteScore: 0)
Applied Psychological Measurement     Hybrid Journal   (Followers: 21, SJR: 1.17, CiteScore: 1)
Applied Spectroscopy     Full-text available via subscription   (Followers: 27, SJR: 0.489, CiteScore: 2)
Armed Forces & Society     Hybrid Journal   (Followers: 25, SJR: 0.29, CiteScore: 1)
Arthaniti : J. of Economic Theory and Practice     Full-text available via subscription  
Arts and Humanities in Higher Education     Hybrid Journal   (Followers: 49, SJR: 0.305, CiteScore: 1)
Asia Pacific Media Educator     Hybrid Journal   (Followers: 1, SJR: 0.23, CiteScore: 0)
Asia-Pacific J. of Management Research and Innovation     Full-text available via subscription   (Followers: 3)
Asia-Pacific J. of Public Health     Hybrid Journal   (Followers: 15, SJR: 0.558, CiteScore: 1)
Asia-Pacific J. of Rural Development     Hybrid Journal   (Followers: 2)
Asian and Pacific Migration J.     Full-text available via subscription   (Followers: 8, SJR: 0.324, CiteScore: 1)
Asian Cardiovascular and Thoracic Annals     Hybrid Journal   (Followers: 2, SJR: 0.305, CiteScore: 0)
Asian J. of Comparative Politics     Hybrid Journal   (Followers: 5)
Asian J. of Legal Education     Full-text available via subscription   (Followers: 4)
Asian J. of Management Cases     Hybrid Journal   (Followers: 6, SJR: 0.101, CiteScore: 0)
ASN Neuro     Open Access   (Followers: 2, SJR: 1.534, CiteScore: 3)
Assessment     Hybrid Journal   (Followers: 19, SJR: 1.519, CiteScore: 3)
Assessment for Effective Intervention     Hybrid Journal   (Followers: 15, SJR: 0.578, CiteScore: 1)
Australasian J. of Early Childhood     Hybrid Journal   (Followers: 7, SJR: 0.535, CiteScore: 1)
Australasian Psychiatry     Hybrid Journal   (Followers: 18, SJR: 0.433, CiteScore: 1)
Australian & New Zealand J. of Psychiatry     Hybrid Journal   (Followers: 30, SJR: 1.801, CiteScore: 2)
Australian and New Zealand J. of Criminology     Hybrid Journal   (Followers: 546, SJR: 0.612, CiteScore: 1)
Australian J. of Career Development     Hybrid Journal   (Followers: 5)
Australian J. of Education     Hybrid Journal   (Followers: 51, SJR: 0.403, CiteScore: 1)
Australian J. of Management     Hybrid Journal   (Followers: 13, SJR: 0.497, CiteScore: 1)
Autism     Hybrid Journal   (Followers: 355, SJR: 1.739, CiteScore: 4)
Autism & Developmental Language Impairments     Open Access   (Followers: 16)
Avian Biology Research     Hybrid Journal   (Followers: 6, SJR: 0.401, CiteScore: 1)
Behavior Modification     Hybrid Journal   (Followers: 14, SJR: 0.877, CiteScore: 2)
Behavioral and Cognitive Neuroscience Reviews     Hybrid Journal   (Followers: 27)
Behavioral Disorders     Hybrid Journal   (Followers: 1)
Beyond Behavior     Hybrid Journal   (Followers: 1)
Bible Translator     Hybrid Journal   (Followers: 13)
Biblical Theology Bulletin     Hybrid Journal   (Followers: 24, SJR: 0.184, CiteScore: 0)
Big Data & Society     Open Access   (Followers: 55)
Biochemistry Insights     Open Access   (Followers: 7)
Bioinformatics and Biology Insights     Open Access   (Followers: 12, SJR: 1.141, CiteScore: 2)
Biological Research for Nursing     Hybrid Journal   (Followers: 7, SJR: 0.685, CiteScore: 2)
Biomarker Insights     Open Access   (Followers: 1, SJR: 0.81, CiteScore: 2)
Biomarkers in Cancer     Open Access   (Followers: 11)
Biomedical Engineering and Computational Biology     Open Access   (Followers: 13)
Biomedical Informatics Insights     Open Access   (Followers: 8)
Bioscope: South Asian Screen Studies     Hybrid Journal   (Followers: 4, SJR: 0.235, CiteScore: 0)
BMS: Bulletin of Sociological Methodology/Bulletin de Méthodologie Sociologique     Hybrid Journal   (Followers: 4, SJR: 0.226, CiteScore: 0)
Body & Society     Hybrid Journal   (Followers: 29, SJR: 1.531, CiteScore: 3)
Bone and Tissue Regeneration Insights     Open Access   (Followers: 2)
Brain and Neuroscience Advances     Open Access  
Brain Science Advances     Open Access  
Breast Cancer : Basic and Clinical Research     Open Access   (Followers: 12, SJR: 0.823, CiteScore: 2)
British J. of Music Therapy     Hybrid Journal   (Followers: 9)
British J. of Occupational Therapy     Hybrid Journal   (Followers: 252, SJR: 0.323, CiteScore: 1)
British J. of Pain     Hybrid Journal   (Followers: 31, SJR: 0.579, CiteScore: 2)
British J. of Politics and Intl. Relations     Hybrid Journal   (Followers: 39, SJR: 0.91, CiteScore: 2)
British J. of Visual Impairment     Hybrid Journal   (Followers: 14, SJR: 0.337, CiteScore: 1)
British J.ism Review     Hybrid Journal   (Followers: 18)
BRQ Business Review Quarterly     Open Access   (Followers: 1)
Building Acoustics     Hybrid Journal   (Followers: 4, SJR: 0.215, CiteScore: 1)
Building Services Engineering Research & Technology     Hybrid Journal   (Followers: 3, SJR: 0.583, CiteScore: 1)
Bulletin of Science, Technology & Society     Hybrid Journal   (Followers: 9)
Business & Society     Hybrid Journal   (Followers: 15)
Business and Professional Communication Quarterly     Hybrid Journal   (Followers: 9, SJR: 0.348, CiteScore: 1)
Business Information Review     Hybrid Journal   (Followers: 17, SJR: 0.279, CiteScore: 0)
Business Perspectives and Research     Hybrid Journal   (Followers: 3)
Cahiers Élisabéthains     Hybrid Journal   (Followers: 1, SJR: 0.111, CiteScore: 0)
Calcutta Statistical Association Bulletin     Hybrid Journal   (Followers: 1)
California Management Review     Hybrid Journal   (Followers: 37, SJR: 2.209, CiteScore: 4)
Canadian Association of Radiologists J.     Full-text available via subscription   (Followers: 2, SJR: 0.463, CiteScore: 1)
Canadian J. of Kidney Health and Disease     Open Access   (Followers: 8, SJR: 1.007, CiteScore: 2)
Canadian J. of Nursing Research (CJNR)     Hybrid Journal   (Followers: 15)
Canadian J. of Occupational Therapy     Hybrid Journal   (Followers: 166, SJR: 0.626, CiteScore: 1)
Canadian J. of Psychiatry     Hybrid Journal   (Followers: 28, SJR: 1.769, CiteScore: 3)
Canadian J. of School Psychology     Hybrid Journal   (Followers: 12, SJR: 0.266, CiteScore: 1)
Canadian Pharmacists J. / Revue des Pharmaciens du Canada     Hybrid Journal   (Followers: 3, SJR: 0.536, CiteScore: 1)
Cancer Control     Open Access   (Followers: 2)
Cancer Growth and Metastasis     Open Access   (Followers: 1)
Cancer Informatics     Open Access   (Followers: 4, SJR: 0.64, CiteScore: 1)
Capital and Class     Hybrid Journal   (Followers: 10, SJR: 0.282, CiteScore: 1)
Cardiac Cath Lab Director     Full-text available via subscription   (Followers: 1)
Cardiovascular and Thoracic Open     Open Access   (Followers: 1)
Career Development and Transition for Exceptional Individuals     Hybrid Journal   (Followers: 10, SJR: 0.44, CiteScore: 1)
Cartilage     Hybrid Journal   (Followers: 6, SJR: 0.889, CiteScore: 3)
Cell Transplantation     Open Access   (Followers: 5, SJR: 1.023, CiteScore: 3)
Cephalalgia     Hybrid Journal   (Followers: 8, SJR: 1.581, CiteScore: 3)
Cephalalgia Reports     Open Access   (Followers: 4)
Child Language Teaching and Therapy     Hybrid Journal   (Followers: 34, SJR: 0.501, CiteScore: 1)
Child Maltreatment     Hybrid Journal   (Followers: 11, SJR: 1.22, CiteScore: 3)
Child Neurology Open     Open Access   (Followers: 6)
Childhood     Hybrid Journal   (Followers: 19, SJR: 0.894, CiteScore: 2)
Childhood Obesity and Nutrition     Open Access   (Followers: 12)
China Information     Hybrid Journal   (Followers: 9, SJR: 0.767, CiteScore: 2)
China Report     Hybrid Journal   (Followers: 11, SJR: 0.221, CiteScore: 0)
Chinese J. of Sociology     Full-text available via subscription   (Followers: 5)
Christian Education J. : Research on Educational Ministry     Hybrid Journal   (Followers: 1)
Chronic Illness     Hybrid Journal   (Followers: 6, SJR: 0.672, CiteScore: 2)
Chronic Respiratory Disease     Hybrid Journal   (Followers: 12, SJR: 0.808, CiteScore: 2)
Chronic Stress     Open Access  
Citizenship, Social and Economics Education     Full-text available via subscription   (Followers: 6, SJR: 0.145, CiteScore: 0)
Cleft Palate-Craniofacial J.     Hybrid Journal   (Followers: 8, SJR: 0.757, CiteScore: 1)
Clin-Alert     Hybrid Journal   (Followers: 1)
Clinical and Applied Thrombosis/Hemostasis     Open Access   (Followers: 32, SJR: 0.49, CiteScore: 1)
Clinical and Translational Neuroscience     Open Access   (Followers: 1)
Clinical Case Studies     Hybrid Journal   (Followers: 3, SJR: 0.364, CiteScore: 1)
Clinical Child Psychology and Psychiatry     Hybrid Journal   (Followers: 45, SJR: 0.73, CiteScore: 2)
Clinical EEG and Neuroscience     Hybrid Journal   (Followers: 8, SJR: 0.552, CiteScore: 2)
Clinical Ethics     Hybrid Journal   (Followers: 13, SJR: 0.296, CiteScore: 1)
Clinical Medicine Insights : Arthritis and Musculoskeletal Disorders     Open Access   (Followers: 3, SJR: 0.537, CiteScore: 2)
Clinical Medicine Insights : Blood Disorders     Open Access   (Followers: 1, SJR: 0.314, CiteScore: 2)
Clinical Medicine Insights : Cardiology     Open Access   (Followers: 8, SJR: 0.686, CiteScore: 2)
Clinical Medicine Insights : Case Reports     Open Access   (Followers: 1, SJR: 0.283, CiteScore: 1)
Clinical Medicine Insights : Circulatory, Respiratory and Pulmonary Medicine     Open Access   (Followers: 4, SJR: 0.425, CiteScore: 2)
Clinical Medicine Insights : Ear, Nose and Throat     Open Access   (Followers: 2)
Clinical Medicine Insights : Endocrinology and Diabetes     Open Access   (Followers: 33, SJR: 0.63, CiteScore: 2)
Clinical Medicine Insights : Oncology     Open Access   (Followers: 3, SJR: 1.129, CiteScore: 3)
Clinical Medicine Insights : Pediatrics     Open Access   (Followers: 3)
Clinical Medicine Insights : Psychiatry     Open Access   (Followers: 10)
Clinical Medicine Insights : Reproductive Health     Open Access   (Followers: 1, SJR: 0.776, CiteScore: 0)
Clinical Medicine Insights : Therapeutics     Open Access   (Followers: 1, SJR: 0.172, CiteScore: 0)
Clinical Medicine Insights : Trauma and Intensive Medicine     Open Access   (Followers: 4)
Clinical Medicine Insights : Urology     Open Access   (Followers: 3)
Clinical Medicine Insights : Women's Health     Open Access   (Followers: 4)
Clinical Nursing Research     Hybrid Journal   (Followers: 34, SJR: 0.471, CiteScore: 1)
Clinical Pathology     Open Access   (Followers: 5)
Clinical Pediatrics     Hybrid Journal   (Followers: 25, SJR: 0.487, CiteScore: 1)
Clinical Psychological Science     Hybrid Journal   (Followers: 16, SJR: 3.281, CiteScore: 5)
Clinical Rehabilitation     Hybrid Journal   (Followers: 78, SJR: 1.322, CiteScore: 3)
Clinical Risk     Hybrid Journal   (Followers: 5, SJR: 0.133, CiteScore: 0)
Clinical Trials     Hybrid Journal   (Followers: 22, SJR: 2.399, CiteScore: 2)
Clothing and Textiles Research J.     Hybrid Journal   (Followers: 28, SJR: 0.36, CiteScore: 1)
Collections : A J. for Museum and Archives Professionals     Full-text available via subscription   (Followers: 3)
Common Law World Review     Full-text available via subscription   (Followers: 17)
Communication & Sport     Hybrid Journal   (Followers: 8, SJR: 0.385, CiteScore: 1)
Communication and the Public     Hybrid Journal   (Followers: 2)
Communication Disorders Quarterly     Hybrid Journal   (Followers: 15, SJR: 0.458, CiteScore: 1)
Communication Research     Hybrid Journal   (Followers: 24, SJR: 2.171, CiteScore: 3)
Community College Review     Hybrid Journal   (Followers: 8, SJR: 1.451, CiteScore: 1)
Comparative Political Studies     Hybrid Journal   (Followers: 291, SJR: 3.772, CiteScore: 3)
Compensation & Benefits Review     Hybrid Journal   (Followers: 8)
Competition & Change     Hybrid Journal   (Followers: 12, SJR: 0.843, CiteScore: 2)

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Similar Journals
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Child Neurology Open
Number of Followers: 6  

  This is an Open Access Journal Open Access journal
ISSN (Online) 2329-048X
Published by Sage Publications Homepage  [1166 journals]
  • Remote Assessment of Pediatric Patients with Daytime Sleepiness and
           Healthy Controls: A Pilot Study of Feasibility and Reliability

    • Authors: Jennifer Worhach, Madeline Boduch, Bo Zhang, Kiran Maski
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      We assessed the reliability of cognitive testing for children and adolescents ages 8 to 19 years of age with narcolepsy or subjective daytime sleepiness compared to healthy controls. Forty-six participants took part in the study (n = 18 narcolepsy type 1, n = 6 subjective daytime sleepiness, and n = 22 healthy controls). Participants completed verbal (vocabulary testing) and non-verbal intelligence quotient (IQ) tasks (block design, matrix reasoning) from the Wechsler Abbreviated Scale of Intelligence- Second Edition (WASI-II) in-person or remotely through a HIPAA compliant telehealth platform with conditions counterbalanced. We found that vocabulary T-scores showed good reliability with intraclass correlation coefficient (ICC) of 0.76 (95% CI: 0.64, 0.85) between remote and in-person testing conditions. Matrix Reasoning T-scores showed moderate reliability (ICC 0.69, 95% CI: 0.68, 0.90) and Block Design T-scores was poor between testing conditions. Overall, the results of this pilot study support the feasibility and reliability of verbal and non-verbal IQ scores collected by telehealth.
      Citation: Child Neurology Open
      PubDate: 2021-10-11T03:54:57Z
      DOI: 10.1177/2329048X211048064
      Issue No: Vol. 8 (2021)
  • Novel HSD17B4 Variants Cause Progressive Leukodystrophy in Childhood: Case
           Report and Literature Review

    • Authors: Akiyo Yamamoto, Shinobu Fukumura, Yumi Habata, Sachiko Miyamoto, Mitsuko Nakashima, Shigeo Takashima, Yukihiko Kawasaki, Nobuyuki Shimozawa, Hirotomo Saitsu
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      D-bifunctional protein (DBP) deficiency is a peroxisomal disorder with a high degree of phenotypic heterogeneity. Some patients with DBP deficiency develop progressive leukodystrophy in childhood. We report a 6-year-old boy with moderate hearing loss who presented with developmental regression. Brain magnetic resonance imaging demonstrated progressive leukodystrophy. However, very long chain fatty acids (VLCFAs) in the plasma were at normal levels. Whole-exome sequencing revealed compound heterozygous variants in HSD17B4 (NM_000414.3:c.[350A > T];[394C > T], p.[[Asp117Val]];[[Arg132Trp]]). The c.394C > T variant has been identified in patients with DBP deficiency and is classified as likely pathogenic, while the c.350A > T variant was novel and classified as uncertain significance. Although one of the two variants was classified as uncertain significance, an accumulation of phytanic and pristanic acids was identified in the patient, confirming type III DBP deficiency. DBP deficiency should be considered as a diagnosis in children with progressive leukodystrophy and hearing loss even if VLCFAs are within normal levels.
      Citation: Child Neurology Open
      PubDate: 2021-10-11T03:06:45Z
      DOI: 10.1177/2329048X211048613
      Issue No: Vol. 8 (2021)
  • Pleasure and Displeasure: Thunderclap Headache in a 13-Year-Old Boy

    • Authors: Carlos M. Guerrero, Sonal Bhatia
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      Primary headache associated with sexual activity (PHASA) is a rare headache syndrome characterized by an acute, maximally intense headache during sexual activity and/or orgasm. While rare, it is a diagnosis that is widely accepted in adults; but, scarcely documented in children and adolescents. We aim to highlight the diagnostic process of this interesting headache syndrome in the pediatric population and add to the small list of reported cases in this group. Herein, we describe the case of a 13-year-old boy who presented with thunderclap headaches (TCH) associated with sexual activity. While more commonly diagnosed in adults, PHASA should be considered in sexually active children, though more ominous diagnoses should also be contemplated prior to establishing this diagnosis.
      Citation: Child Neurology Open
      PubDate: 2021-10-04T03:32:19Z
      DOI: 10.1177/2329048X211034360
      Issue No: Vol. 8 (2021)
  • Rhabdomyosarcoma in a Patient With Duchenne Muscular Dystrophy: A Possible

    • Authors: Erika Chandler, Lauren Rawson, Robert Debski, Kerry McGowan, Arpita Lakhotia
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      Duchenne muscular dystrophy (DMD), caused by a mutation in the DMD gene, is known to be associated with co-morbidities including cardiomyopathy, respiratory failure, neuromuscular scoliosis and intellectual disability. Animal studies have explored the susceptibility of dystrophin-deficient mice with the development of myogenic tumors. While there is adequate literature describing both DMD and rhabdomyosarcoma (RMS) separately, there has yet to be a comprehensive literature review investigating the possibility that patients with DMD may be at a higher risk of developing RMS and other myogenic tumors. We present the case of a pediatric patient with DMD who developed alveolar RMS and review the literature for susceptibility to development of myogenic tumors in cases of DMD gene mutation.
      Citation: Child Neurology Open
      PubDate: 2021-10-04T03:32:09Z
      DOI: 10.1177/2329048X211041471
      Issue No: Vol. 8 (2021)
  • Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case
           Report and Literature Review

    • Authors: Daniel I. Weiman, Meredith K. Gillespie, Taila Hartley, Matthew Osmond, Yoko Ito, Kym M. Boycott, Kristin D. Kernohan, Matthew Lines, Hugh J. McMillan
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      Allgrove or “Triple A” syndrome is characterized by alacrima, achalasia, and adrenocorticotropic hormone-resistant adrenal insufficiency, as well as central and peripheral nervous system involvement. Patients demonstrate heterogeneity with regard to their age of symptom onset, disease severity, and nature of clinical symptoms. Neurophysiological testing has also shown variability ranging from: motor neuron disease with prominent bulbar involvement, motor-predominant neuropathy, or sensorimotor polyneuropathy with axonal or mixed axonal and demyelinating features. We report an 11-year-old boy who presented with neurological symptoms of progressive spasticity and peripheral neuropathy. His neurophysiological testing confirmed a sensorimotor polyneuropathy with axonal and demyelinating features. Exome sequencing identified compound heterozygote variants in the AAAS gene. We summarize the neurophysiological findings in him and 29 other patients with Allgrove syndrome where nerve conduction study findings were available thereby providing a review of the heterogeneity in neurophysiological findings that have been reported in this rare disorder.
      Citation: Child Neurology Open
      PubDate: 2021-10-04T03:31:53Z
      DOI: 10.1177/2329048X211031059
      Issue No: Vol. 8 (2021)
  • Early Identification of DMD in the Setting of West Syndrome

    • Authors: Ahmed Razeq, Samiya Ahmad
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      Duchene muscular dystrophy (DMD) is the most common muscular dystrophy in childhood, affecting ∼1:5000 male live births worldwide. DMD is a genetic disorder with X-linked recessive inheritance pattern characterized by a severe muscular phenotype with progressive muscle weakness and atrophy due to pathogenic variations within the DMD gene. Two cases are reported to date in the literature of individuals with a diagnosis of both DMD and West syndrome; neither of which had the degree of additional genetic abnormalities that our patient demonstrates. We present a male infant with West syndrome, and multiple pathogenic variants, the ominous one being in the DMD gene. This case adds to confirming that West syndrome expands the spectrum of epilepsy that may be present in DMD patients. Additionally, this case can identify how the early use of steroids may shed light on effects of early symptomatic treatment of DMD.
      Citation: Child Neurology Open
      PubDate: 2021-09-28T06:35:48Z
      DOI: 10.1177/2329048X211036546
      Issue No: Vol. 8 (2021)
  • Ketogenic Diet in Glut 1 Deficiency Through the Life Cycle: Pregnancy to
           Neonate to Preschooler

    • Authors: Jennifer Kramer, Lisa Smith
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      A 19-year-old woman with glucose transporter type 1 deficiency syndrome (Glut1DS) treated with ketogenic diet therapy (KDT) became pregnant. Her pregnancy included close monitoring of her diet as well as the fetus. Shortly after delivery, a lumbar puncture was performed followed by confirmatory genetic test diagnosing the neonate with Glut1DS. The neonate was placed on KDT and has been maintained on diet since infancy. The child is now 5 years of age, asymptomatic, and excelling developmentally. This case presents 2 management challenges, that of a patient with Glut1DS during pregnancy followed by managing a neonate on KDT with minimal guidance available in the literature due to the relative rarity of the condition and this unique situation.
      Citation: Child Neurology Open
      PubDate: 2021-09-13T12:09:18Z
      DOI: 10.1177/2329048X211034655
      Issue No: Vol. 8 (2021)
  • Validating Coding for the Identification of Pediatric Treatment Resistant
           Epilepsy Patients

    • Authors: Daniel A. Freedman, Zachary Grinspan, Peter Glynn, Jackson Mittlesteadt, Alex Dawes, Anup D. Patel
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      The International Classification of Diseases (ICD) system includes sub codes to indicate that an individual with epilepsy is treatment resistant. These codes would be a valuable tool to identify individuals for quality improvement and population health, as well as for recruitment into clinical trials. However, the accuracy of these codes is unclear. We performed a single center cross sectional study to understand the accuracy of ICD codes for treatment resistant epilepsy. We identified 344 individuals, roughly half with treatment resistant epilepsy The ICD code had a sensitivity of 90% (147 of 164) and specificity of 86% (155 of 180). The miscoding of children with refractory epilepsy was attributed to the following reasons: 5 patients had epilepsy surgery, 4 had absence epilepsy, 4 patients were seen by different providers, and 1 patient was most recently seen in movement disorders clinic. ICD codes accurately identify children with treatment resistant epilepsy.
      Citation: Child Neurology Open
      PubDate: 2021-08-31T02:56:04Z
      DOI: 10.1177/2329048X211037806
      Issue No: Vol. 8 (2021)
  • Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole
           Exome Sequencing

    • Authors: Christina M. Quitmann, Stephan Rust, Janine Reunert, Saskia Biskup, Barbara Fiedler, Thorsten Marquardt
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      Two siblings with an early onset of a neurodegenerative disease were presented with muscular hypotonia, secondary microcephaly, and severe developmental delay. Seizures were refractory to treatment but could be controlled with a ketogenic diet. Over the course of 5 years, whole exome sequencing (WES) was performed twice in both children. The first time the diagnosis was missed. The next one revealed compound heterozygous mutations in the gene coding for the tubulin folding cofactor D. Technical improvements in WES mandated a new investigation after a few years in children where the diagnosis has not been found.
      Citation: Child Neurology Open
      PubDate: 2021-08-05T12:50:49Z
      DOI: 10.1177/2329048X211034969
      Issue No: Vol. 8 (2021)
  • Patients With Extreme Early Onset Juvenile Huntington Disease Can Have
           Delays in Diagnosis: A Case Report and Literature Review

    • Authors: Ashley A. Moeller, Marcia V. Felker, Jennifer A. Brault, Laura C. Duncan, Rizwan Hamid, Meredith R. Golomb
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      Huntington disease (HD) is caused by a pathologic cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the HTT gene. Typical adult-onset disease occurs with a minimum of 40 repeats. With more than 60 CAG repeats, patients can have juvenile-onset disease (jHD), with symptom onset by the age of 20 years. We report a case of a boy with extreme early onset, paternally inherited jHD, with symptom onset between 18 and 24 months. He was found to have 250 to 350 CAG repeats, one of the largest repeat expansions published to date. At initial presentation, he had an ataxic gait, truncal titubation, and speech delay. Magnetic resonance imaging showed cerebellar atrophy. Over time, he continued to regress and became nonverbal, wheelchair-bound, gastrostomy-tube dependent, and increasingly rigid. His young age at presentation and the ethical concerns regarding HD testing in minors delayed his diagnosis.
      Citation: Child Neurology Open
      PubDate: 2021-08-05T12:50:20Z
      DOI: 10.1177/2329048X211036137
      Issue No: Vol. 8 (2021)
  • To Be or No B2: A Rare Cause of Stridor and Weakness in a Toddler

    • Authors: Aliya L. Frederick, Jennifer H. Yang, Sarah Schneider, Alexis Quade, Lucia Guidugli, Kristen Wigby, Melissa Cameron
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      We present a case of a young child with a rare metabolic disorder whose clinical presentation resembled that of autoimmune myasthenia gravis. The differential diagnosis was expanded when autoantibody testing was negative and the patient did not respond to standard immunomodulatory therapies. Rapid whole genome sequencing identified 2 rare variants of uncertain significance in the SLC52A3 gene shown to be in compound heterozygous state after parental testing. Biallelic mutations in SLC52A3 are associated with Riboflavin Transporter Deficiency, which in its untreated form, results in progressive neurodegeneration and death. Supplementation with oral riboflavin has been shown to limit disease progression and improve symptoms in some patients. When the diagnosis is suspected, patients should be started on supplementation immediately while awaiting results from genetic studies.
      Citation: Child Neurology Open
      PubDate: 2021-08-05T09:28:14Z
      DOI: 10.1177/2329048X211030723
      Issue No: Vol. 8 (2021)
  • A Case Report of Myelopathy Following Heroin Overdose in a Child

    • Authors: Ana Melikishvili, Bijal Patel, Daphne M. Hasbani, Karen S. Carvalho
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      Neurologic complications secondary to heroin abuse in the adult population have been widely described in the literature. With the recent opioid epidemic and increasing rates of heroin abuse in adolescents, pediatricians are now encountering the diagnostic and management challenge of similar complications in children. We report a case of a 16-year-old girl who presented with complete paraplegia after a heroin overdose. Spinal magnetic resonance imaging showed diffuse thoracic spinal cord abnormalities. She rapidly recovered after high dose intravenous corticosteroids and, upon hospital discharge 2 weeks later, required minimal assistance with ambulation. This case represents the youngest patient reported with the rare complication of myelopathy associated with heroin use.
      Citation: Child Neurology Open
      PubDate: 2021-07-29T09:17:16Z
      DOI: 10.1177/2329048X211030757
      Issue No: Vol. 8 (2021)
  • Acute Necrotizing Encephalopathy: 2 Case Reports on RANBP2 Mutation

    • Authors: Molly Hartley, Anjana Sinha, Ashutosh Kumar, Ermal Aliu, Gayatra Mainali, Sita Paudel
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      Infection-induced acute encephalopathy 3 (IIAE3) is an autosomal dominant disease resulting from a pathogenic variant in the RANBP2 gene. IIAE3 results in the susceptibility to the recurrence of acute necrotizing encephalopathy (ANE1) which presents as bilateral symmetric thalamic, midbrain and/or hindbrain lesions that typically develops within 1-4 days post-acute viral infection, commonly occurring before age 6.1-6 These case reports highlight a retrospective analysis of clinical data and radiographic studies on 2 ANE1 cases from our institution. The novel p.Leu450Phe variant of the RANBP2 gene was analyzed using in silico algorithms (PolyPhen-2, SIFT, Mutationtaster) which suggests the p.Leu450Phe variant is probably deleterious.7 An expansion of documented ANE1 case presentations and clinically significant RANBP2 gene mutations has the potential to improve long term outcomes if more informed therapeutic decision making can be achieved.
      Citation: Child Neurology Open
      PubDate: 2021-07-29T09:16:36Z
      DOI: 10.1177/2329048X211030751
      Issue No: Vol. 8 (2021)
  • The Guiding Star: The Journey of an International Physician From Maternal
           Fetal Medicine to Fetal Neonatal Neurology

    • Authors: Sonika Agarwal
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      My path to the American dream took me from maternal fetal medicine in India to fetal and neonatal neurology in the United States, a journey spanning 2 continents, 3 countries, 3 healthcare systems, 4 rounds of the residency match process, 2 residency trainings and 4 fellowships. Through it all I had the good fortune to be guided by a wonderful support system of mentors, family, and friends. This is my story of how and why.
      Citation: Child Neurology Open
      PubDate: 2021-07-29T09:15:59Z
      DOI: 10.1177/2329048X211030740
      Issue No: Vol. 8 (2021)
  • Keto-Sleuths – An Unusual Cause of Loss of Ketosis'

    • Authors: Christine M. Foley, Christopher Ryan, Stacey Tarrant, Ann M. Bergin
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      Ketogenic diets provide a non-pharmaceutical alternative for treatment of refractory epilepsy. When successful in reducing or eliminating seizures, medication numbers or doses may be reduced. Unexpected loss of ketosis is a common problem in management of patients on ketogenic diets and, especially when the diet is an effective treatment, loss of ketosis may be associated with an exacerbation in seizures. Identification of the cause of loss of ketosis is critical to allow rapid resumption of seizure control, and prevention of unnecessarily increased diet restriction or increased medication doses. Here an unusual environmental cause of loss of ketosis is described (contamination with starch-containing drywall dust), illustrating the extent of investigation sometimes necessary to understand the clinical scenario.
      Citation: Child Neurology Open
      PubDate: 2021-07-23T09:13:34Z
      DOI: 10.1177/2329048X211029736
      Issue No: Vol. 8 (2021)
  • A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower
           Extremity Predominant in Identical Twins: A Case Report

    • Authors: Alexa Derksen, Amytice Mirchi, Luan T. Tran, Lei Cao-Lei, Maryam Oskoui, Myriam Srour, Chantal Poulin, Geneviève Bernard
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      Mutations in DYNC1H1 have been shown to cause spinal muscular atrophy lower extremity predominant type 1 (SMALED1), an autosomal dominant genetic neuromuscular disorder characterized by degeneration of spinal cord motor neurons resulting in muscle weakness. Here, we describe monozygotic twins, one with a more severe upper motor neuron phenotype as a result of a suspected perinatal hypoxic-ischemic event and the other presenting a typical lower motor neuron phenotype. Using exome sequencing, we identified the novel de novo variant c.752G>T; p.Arg251Leu in DYNC1H1. We thereby add this variant to the growing list of mutations in DYNC1H1 that cause SMALED1.
      Citation: Child Neurology Open
      PubDate: 2021-07-23T09:13:04Z
      DOI: 10.1177/2329048X211027438
      Issue No: Vol. 8 (2021)
  • How Providers in Child Neurology Transitioned to Telehealth During
           COVID-19 Pandemic

    • Authors: Jennifer M. Bain, Codi-Ann Dyer, Megan Galvin, Sylvie Goldman, Jay Selman, Wendy G. Silver, Sarah E. Tom
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      To understand child neurology care practices in telehealth (TH), we conducted an online survey interested in identifying which patients should be triaged for in-person evaluations in lieu of telehealth management. We also sought to identify provider and patient/parent limitations of the TH experience. One hundred fourteen clinicians completed the online survey. The majority of child neurologists transitioned within 3 weeks of the pandemic onset and found it inappropriate to evaluate a child under 1 year of age via TH. We identified specific disorders considered inappropriate for initial evaluation via TH, including neuromuscular disease, neuropathy, weakness, autoimmune disease and autism spectrum disorders. Patient and parent technical and economic issues are significant limitations of TH. We suggest quality improvement measures to provide additional training, focusing on particular disorders and increased access for those patients currently excluded from or limited in using or accessing TH.
      Citation: Child Neurology Open
      PubDate: 2021-07-19T08:47:41Z
      DOI: 10.1177/2329048X211022976
      Issue No: Vol. 8 (2021)
  • Report of a Child With Febrile Status Epilepticus and Post-COVID
           Multi-System Inflammatory Syndrome

    • Authors: Holly C. Appleberry, Alexis Begezda, Helen Cheung, Soriayah Zaghab-Mathews, Gayatra Mainali
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      Multi-system Inflammatory Syndrome in Children (MIS-C) is a post infectious inflammatory syndrome following COVID infection. Previous case series have demonstrated that CNS involvement is less common and presents heterogeneously. The following case describes an infant with an initial presentation of refractory febrile status epilepticus. Genetic testing later showed multiple variants of uncertain significance. The patient met clinical criteria for MIS-C and had a markedly abnormal brain MRI with bilateral diffuse restricted diffusion (anterior> posterior). Clinically, the patient improved with pulse steroids and IVIg. This case highlights the importance of maintaining MIS-C in the differential as a trigger of Febrile Infection Related Epilepsy Syndrome (FIRES) with multi-organ involvement presenting 2-4 weeks after infectious symptoms and COVID exposure.
      Citation: Child Neurology Open
      PubDate: 2021-07-05T09:10:42Z
      DOI: 10.1177/2329048X211027725
      Issue No: Vol. 8 (2021)
  • Fatal Pediatric COVID-19 Case With Seizures and Fulminant Cerebral Edema

    • Authors: Siddharth Ninan, Peyton Thompson, Timothy Gershon, Natalie Ford, William Mills, Valerie Jewells, Leigh Thorne, Katherine Saunders, Thomas Bouldin, Jason R. Smedberg, Melissa B. Miller, Eveline Wu, Alyssa Tilly, Jeremy Sites, Daniel Lercher, Katherine Clement, Tracie Walker, Paul Shea, Benny Joyner, Rebecca Smith
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      The novel coronavirus, SARS-CoV-2, can present with a wide range of neurological manifestations, in both adult and pediatric populations. We describe here the case of a previously healthy 8-year-old girl who presented with seizures, encephalopathy, and rapidly progressive, diffuse, and ultimately fatal cerebral edema in the setting of acute COVID-19 infection. CSF analysis, microbiological testing, and neuropathology yielded no evidence of infection or acute inflammation within the central nervous system. Acute fulminant cerebral edema (AFCE) is an often fatal pediatric clinical entity consisting of fever, encephalopathy, and new-onset seizures followed by rapid, diffuse, and medically-refractory cerebral edema. AFCE occurs as a rare complication of a variety of common pediatric infections and a CNS pathogen is identified in only a minority of cases, suggesting a para-infectious mechanism of edema. This report suggests that COVID-19 infection can precipitate AFCE, and highlights the need for high suspicion and early recognition thereof.
      Citation: Child Neurology Open
      PubDate: 2021-06-14T09:04:14Z
      DOI: 10.1177/2329048X211022532
      Issue No: Vol. 8 (2021)
  • Cognitive linguistic Treatment in Landau Kleffner Syndrome: Improvement in
           Daily Life Communication

    • Authors: Ineke van der Meulen, Robert F. Pangalila, W. Mieke E. van de Sandt-Koenderman
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      We report a case study of cognitive linguistic treatment in a teenager with chronic severe Landau Kleffner Syndrome. The effect of speech and language therapy in LKS is rarely examined and our case is unique in that we use an effective approach in adult aphasia to treat language deficits in aphasia in LKS. The results show successful acquisition of a considerable amount of new words as well as improved communication in daily life. However, auditory verbal agnosia, the most prominent feature in LKS, persisted. Cognitive linguistic treatment seems a promising treatment to improve spoken language production in LKS, but more research is needed to optimize speech and language therapy of auditory verbal agnosia and auditory language comprehension in children with LKS
      Citation: Child Neurology Open
      PubDate: 2021-06-02T09:15:01Z
      DOI: 10.1177/2329048X211022196
      Issue No: Vol. 8 (2021)
  • A Rare Case of an Intramedullary Spinal Cord Abscess Due to Escherichia
           coli in a Pediatric Patient

    • Authors: Rachel Sehgal, Elizabeth Budnik, Atul Mallik, Andrew Bonwit, Matthew Leischner
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      Spinal cord abscess is a rare entity, particularly in the pediatric population. Spinal cord abscesses can be located in extradural, subdural and intradural (intramedullary or extramedullary) regions of the cord. Among these locations, intramedullary is extremely uncommon. There have been few case reports of intramedullary spinal cord abscess since its first description in 1830. We describe a 2 year-old boy with a history of neonatal meningitis due to E.coli who presented with refusal to walk and was subsequently found to have intramedullary spinal cord abscesses at multiple levels. Culture of the abscesses again revealed E.coli. The patient was noted to have a pit located just superiorly to his sacral spine. Imaging revealed the presence of a dorsal dermal sinus tract. It is important to evaluate anatomical abnormalities, especially in the setting of serious bacterial infections, such as meningitis, as they have the potential to serve as a reservoir for infection.
      Citation: Child Neurology Open
      PubDate: 2021-06-01T09:18:26Z
      DOI: 10.1177/2329048X211011869
      Issue No: Vol. 8 (2021)
  • Koolen-de Vries Syndrome: Preliminary Observations of Topiramate Efficacy

    • Authors: Piccinelli Paolo, Ferri Matteo, Lipari Rossella, Mercuri Anna, Casalone Rosario, Granata Paola, Termine Cristiano, Rossi Giorgio
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      We describe the case of a baby-girl affected by the Koolen-de Vries syndrome (KdVS), with epilepsy. Our patient has microdeletions in the 17q21.31 region (array CGH). Therapy with Levetiracetam showed a relatively lack of efficacy, while adding a low dose of Topiramate in the therapy allowed the complete seizures control. KdVS is a rare syndrome and its epilepsy features and seizures treatment are not well known by pediatric neurologists. However, with broader use of array CGH, an increasing number of cases are likely to be identified and their description, including response to specific medications, can facilitate recognition and treatment. The complex treatment of epilepsy should be part of the global management and counseling in these composite patients.
      Citation: Child Neurology Open
      PubDate: 2021-06-01T09:11:01Z
      DOI: 10.1177/2329048X211019183
      Issue No: Vol. 8 (2021)
  • Perinatal Manifestations of DARS2-Associated Leukoencephalopathy With
           Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL)

    • Authors: Julie Ngo, Jeremy W. Prokop, Jason Umfleet, Laurie H. Seaver
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a progressive disorder associated with deficiency of mitochondrial aspartyl-tRNA synthetase, a homodimer encoded by the gene DARS2. There is a wide range in age of onset of symptoms, typically from childhood to adulthood, with very few cases of infantile onset disease reported. We report a child at age 10 years with perinatal onset of symptoms evidenced by congenital microcephaly with progression to severe but non-lethal epileptic encephalopathy and spastic quadriplegia. A comprehensive epilepsy focused gene panel performed as a trio with parents detected a novel homozygous DARS2 variant. This variant is located at the dimer interface in a critical catalytic domain and is expected to result in markedly reduced enzyme activity which likely explains the severe and early onset symptoms in this case.
      Citation: Child Neurology Open
      PubDate: 2021-05-25T09:11:07Z
      DOI: 10.1177/2329048X211019173
      Issue No: Vol. 8 (2021)
  • Fatal Acute Hemorrhagic Leukoencephalitis Following Immunization Against
           Human Papillomavirus in a 14-Year-Old Boy

    • Authors: Kari Wellnitz, Yutaka Sato, Daniel J. Bonthius
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      Human papilloma virus (HPV) is a prevalent pathogen whose persistent infection can lead to a variety of cancers. To protect against this threat, an HPV vaccine has been developed and is routinely administered to adolescents. The HPV vaccine has a reassuring safety profile, but reports have emerged of acute disseminated encephalomyelitis following its administration. Acute hemorrhagic leukoencephalitis (AHLE) is a severe inflammatory disease of the central nervous system and the most fulminant form of ADEM. We report a previously healthy 14-year-old boy who developed headache, fatigue, focal weakness, and confusion 3 weeks after receiving the HPV vaccine. Neuroimaging demonstrated multifocal demyelination. Despite treatment with high-dose steroids, his encephalopathy worsened. He developed severe cerebral edema and died of cerebral herniation. Postmortem histology revealed perivenular sleeves of tissue damage, myelin loss surrounding small parenchymal vessels, and diffuse hemorrhagic necrosis, consistent with AHLE. This is the first report of AHLE following HPV vaccination.
      Citation: Child Neurology Open
      PubDate: 2021-05-18T08:51:37Z
      DOI: 10.1177/2329048X211016109
      Issue No: Vol. 8 (2021)
  • The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian Cohort

    • Authors: Daad Alsowat, Robyn Whitney, Stacy Hewson, Puneet Jain, Valerie Chan, Nadia Kabir, Kimberly Amburgey, Damien Noone, Mathieu Lemaire, Blathnaid McCoy, Maria Zak
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      Objective:We aimed to further elucidate the phenotypic spectrum of Tuberous Sclerosis Complex (TSC) depending on genotype.Methods:A retrospective review of patients seen in the TSC clinic at the Hospital for Sick Children was conducted and the frequency of TSC manifestations was compared based on genotype.Results:Nineteen-patients had TSC1 mutations, 36 had TSC2 mutations and 11 had no mutation identified (NMI). Patients with TSC2 mutations had a higher frequency of early-onset epilepsy and more frequent systemic manifestations. The NMI group had milder neurologic and systemic manifestations. Our data did not demonstrate that intellectual disability and infantile spasms were more common in TSC2 mutations.Conclusions:This is the first Canadian pediatric cohort exploring the genotype-phenotype relationship in TSC. We report that some manifestations are more frequent and severe in TSC2 mutations and that NMI may have a milder phenotype. Disease surveillance and counseling should continue regardless of genotype until this is better elucidated.
      Citation: Child Neurology Open
      PubDate: 2021-05-04T09:43:43Z
      DOI: 10.1177/2329048X211012817
      Issue No: Vol. 8 (2021)
  • Vitamin D Intoxication Presenting as Subacute Encephalopathy—A Case

    • Authors: Naik Tripty, Jagzape Tushar, Jondhale Sunil
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      Vitamin D intoxication is uncommon in children and is more commonly suspected in the setting of ingestion of high doses of vitamin D. Its manifestations can be non specific and varied ranging from mild like constipation and vomiting to life threatening like arrhythmias and encephalopathy. Here we present a 14 month female who presented with loss of milestones, floppiness, and poor interaction with mother. She was detected to have hypercalcemia and was subsequently diagnosed with vitamin D intoxication. She was successfully treated with hydration, furosemide, prednisolone and frequent monitoring of electrolytes, electrocardiography and volume status. Subsequently as her serum calcium levels normalized with therapy, she became alert, conscious and started achieving developmental milestones.
      Citation: Child Neurology Open
      PubDate: 2021-04-30T06:49:48Z
      DOI: 10.1177/2329048X211008075
      Issue No: Vol. 8 (2021)
  • A Sense of Humor is Especially Important During Difficult Times

    • Authors: David E. Mandelbaum
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      Artist-critic Clive James said: “Common sense and a sense of humor are the same thing, moving at different speeds. A sense of humor is just common sense, dancing. Those who lack humor are without judgment and should be trusted with nothing.”
      Citation: Child Neurology Open
      PubDate: 2021-04-27T07:52:31Z
      DOI: 10.1177/2329048X211012831
      Issue No: Vol. 8 (2021)
  • Measuring the Barriers to Adherence With Neurology Clinic Appointments for
           Children With Epilepsy: A Pilot Study

    • Authors: Jason Bailey, Melanie West, Rajkumar Agarwal, Gogi Kumar
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      Introduction:Epilepsy is one of the most common neurological disorders in children. Missed appointments reflect missed opportunity to provide care for children with epilepsy. The objective of this study was to identify social determinants of health (SDH) and other factors associated with missed appointments in children with epilepsy and measure the relation between missed appointments and frequency of emergency room (ER) visits and inpatient admissions.Methods:This was a prospective study conducted in the neurology division at a level 4 epilepsy center. Children (0 to < 18 years of age) with a diagnosis of epilepsy were included and a semi-structured questionnaire was provided to the families. Patients with 2 or more missed neurology clinic appointments in the previous year (“study group”, n = 36) were compared to those with 1 or zero missed appointments (“control group”, n = 49). A comparison of the clinical characteristics, emergency room visits and hospitalizations in the past year as well as SDH was performed. Statistical analysis was performed using SPSS and p < 0.05 was considered significant.Results:The mean age, gender distribution and presence of medical refractoriness were comparable between the 2 groups. Families in the study group reported a higher likelihood of having to make special work arrangements for clinic appointments. Children in the study group were noted to have a significantly higher frequency of single mother households, presence of public insurance, father not graduating from high school and household income less than 50,000 dollars. Within the preceding year, children in the study group were noted to have a higher frequency of visits to the emergency department as well as 6 times higher likelihood of inpatient hospitalization for seizures.Conclusions:Social determinants of health play an important role in determining adherence with neurology clinic visits in children with epilepsy. Children with more missed appointments are likely to have a higher frequency of visits to the emergency department as well as a higher incidence of hospitalization for seizures. Identification of high-risk families and implementation of early interventions may improve adherence to office visits and decrease emergency room visits and hospitalization for seizures.
      Citation: Child Neurology Open
      PubDate: 2021-04-27T07:46:47Z
      DOI: 10.1177/2329048X211012544
      Issue No: Vol. 8 (2021)
  • Spinal Muscular Atrophy: The Use of Functional Motor Scales in the Era of
           Disease-Modifying Treatment

    • Authors: Katarzyna Pierzchlewicz, Izabela Kępa, Jacek Podogrodzki, Katarzyna Kotulska
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      Spinal muscular atrophy (SMA) is a genetic condition characterized by progressive motoneuron loss. Infants affected by SMA type 1 do not gain developmental milestones and acutely decline, requiring ventilatory support. Several scales are used to assess motor disability and its progression in SMA. Recently, 3 disease-modifying therapies have been approved for SMA patients: nusinersen, an intrathecal antisense oligonucleotide enhancing SMN protein production by the SMN2 gene, risdiplam, also influencing the SMN2 gene to stimulate SMN production but administered orally, and onasemnogene abeparvovec-xioi, an SMN1 gene replacement therapy. Thus, the functional scales should now be applicable for patients improving their motor function over time to assess treatment efficacy. In this paper, we compare different functional scales used in SMA patients. Their usefulness in different SMA types, age groups, and feasibility in daily clinical practice is described below. Some changes in motor function assessments in SMA are also suggested.
      Citation: Child Neurology Open
      PubDate: 2021-04-27T07:39:30Z
      DOI: 10.1177/2329048X211008725
      Issue No: Vol. 8 (2021)
  • A Case Report of a Prenatally Missed Mowat-Wilson Syndrome With Isolated
           Corpus Callosum Agenesis

    • Authors: Nesrin Şenbil, Zeynep Arslan, Derya Beyza Sayın Kocakap, Yasemin Bilgili
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      Mowat–Wilson syndrome (MWS) is an autosomal dominant genetic disorder caused by ZEB2 gene mutations, manifesting with unique facial characteristics, moderate to severe intellectual problems, and congenital malformations as Hirschsprung disease, genital and ophthalmological anomalies, and congenital cardiac anomalies. Herein, a case of 1-year-old boy with isolated agenesis of corpus callosum (IACC) in the prenatal period is presented. He was admitted postnatally with Hirschsprung disease (HSCR), hypertelorism, uplifted earlobes, deeply set eyes, frontal bossing, oval-shaped nasal tip, ‘‘M’’ shaped upper lip, opened mouth and prominent chin, and developmental delay. Hence, MWS was primarily considered and confirmed by the ZEB2 gene mutation analysis. His karyotype was normal. He had a history of having a prenatally terminated brother with similar features. Antenatally detected IACC should prompt a detailed investigation including karyotype and microarray; even if they are normal then whole exome sequencing (WES) should be done.
      Citation: Child Neurology Open
      PubDate: 2021-04-23T07:16:24Z
      DOI: 10.1177/2329048X211006511
      Issue No: Vol. 8 (2021)
  • Downbeat Nystagmus in a 7-Year-Old Girl With Epstein-Barr Virus-Associated
           Meningitis and Cerebellitis

    • Authors: Cameron Alexander Wade, David Neil Toupin, Kyle Darpel, Kimberly Jones, Donita Lightner
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      Downbeat nystagmus is a type of jerk nystagmus that may be seen in patients with lesions affecting the vestibulocerebellum. This is a case of a 7-year-old girl presenting with a history of fever, headache, and episodic vertigo with downbeat nystagmus. The diagnosis of Epstein-Barr virus meningitis with acute cerebellitis was made by contrast magnetic resonance imaging, cerebrospinal fluid analysis, and serum Epstein-Barr virus titers. Contrast magnetic resonance imaging demonstrated enhancement of the meninges and inferior cerebellar folia, correlating with the neuroophthalmological symptom of downbeat nystagmus.
      Citation: Child Neurology Open
      PubDate: 2021-03-16T05:18:11Z
      DOI: 10.1177/2329048X211000463
      Issue No: Vol. 8 (2021)
  • Leigh Syndrome as a Phenotype of Near-Homoplasmic m.8344 A>G Variant in

    • Authors: Sam Nicholas Russo, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Melissa Walker
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      In the field of mitochondrial medicine, correlation of clinical phenotype with mutation heteroplasmy remains an outstanding question with few, if any, clear thresholds corresponding to a given phenotype. The m.8344A>G mutation is most commonly associated with myoclonus epilepsy and ragged red fiber syndrome (MERRF) at varying levels of heteroplasmy. However, a handful of cases been previously reported in which individuals homoplasmic or nearly homoplasmic for this mutation in the blood have presented with multiple bulbar palsies, respiratory failure, and progressive neurologic decline almost uniformly following a respiratory illness. MRI brain in all affected individuals revealed symmetric T2 hyperintense lesions of subcortical gray matter structures, consistent with Leigh syndrome. Here, we present 3 cases with clinical, biochemical, and neuro-imaging findings with the additional reporting of spinal lesions. This new phenotype supports a heteroplasmy-dependent phenotype model for this mutation and recognition of this can help clinicians with diagnosis and anticipatory clinical guidance.
      Citation: Child Neurology Open
      PubDate: 2021-03-02T09:43:23Z
      DOI: 10.1177/2329048X21991382
      Issue No: Vol. 8 (2021)
  • ERRATUM to “The Application of Neurodiagnostic Studies to Inform the
           Acute Management of a Newborn Presenting With Carbamoyl Phosphate
           Synthetase 1 Deficiency”

    • Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.

      Citation: Child Neurology Open
      PubDate: 2021-02-19T09:10:02Z
      DOI: 10.1177/2329048X21998964
      Issue No: Vol. 8 (2021)
  • Infant Stroke Associated With Left Atrial Thrombus and Supraventricular

    • Authors: Rachel Pauley, Elise L. Mercier, Ashutosh Kumar, William H. Trescher, Gayatra Mainali
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      We report a rare case of cardioembolic stroke in the setting of supraventricular tachycardia (SVT) in an infant. After a week of irritability, a 10-week-old male presented to the emergency department with SVT requiring treatment with adenosine. He developed right-sided hemiparesis and focal motor seizures. Imaging of the brain showed ischemic infarct in the left middle cerebral artery (MCA) territory. Echocardiogram showed a newly formed large left atrial intracardiac thrombus. A coagulopathy workup was negative. He was treated with beta-blocker and anticoagulation therapy. He had mild residual right hemiparesis. During childhood, he developed medically refractory focal epilepsy from the left hemisphere, requiring epilepsy surgery at age 10. A child presenting with sustained SVT can be at increased risk for intracardiac thrombi and stroke.
      Citation: Child Neurology Open
      PubDate: 2021-02-16T10:38:05Z
      DOI: 10.1177/2329048X21995296
      Issue No: Vol. 8 (2021)
  • The Application of Neurodiagnostic Studies to Inform the Acute Management
           of a Newborn Presenting With Sarbamoyl Shosphate Synthetase 1 Deficiency

    • Authors: Meaghan McGowan, Carlos Ferreira, Matthew Whitehead, Sudeepta K. Basu, Taeun Chang, Andrea Gropman
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      Neonatal-onset urea cycle disorders (UCDs) may result in hyperammonemic (HA) encephalopathy presenting with several neurologic sequelae including seizures, coma, and death. However, no recommendations are given in how and when neurodiagnostic studies should be used to screen or assess for these neurologic complications. We present a case of carbamoyl phosphate synthetase 1 (CPS1) deficiency in a newborn female in which electroencephalogram monitoring to assess encephalopathy and seizures, and magnetic resonance imaging measurements of brain metabolites were used to guide care during her hyperammonemic crisis. Her neurologic course and response to treatment characterizes the significant neurologic impact of HA encephalopathy. Our group herein proposes a clinical neurodiagnostic pathway for managing acute HA encephalopathy.
      Citation: Child Neurology Open
      PubDate: 2021-01-22T09:29:05Z
      DOI: 10.1177/2329048X20985179
      Issue No: Vol. 8 (2021)
  • Liver Transplantation Reverses Hepatic Myelopathy in 2 Children With
           Hepatitis A Infection

    • Authors: Roshan Koul, Bikrant Bihari Lal, Viniyendra Pamecha, Shiv Sarin, Seema Alam
      Abstract: Child Neurology Open, Volume 8, Issue , January-December 2021.
      Objectives:To report 2 children with acute hepatic myelopathy after hepatitis A infection who recovered completely after living donor liver transplantation.Methods:All the children admitted into liver intensive care unit (LICU) from November 1st 2018 to 31st October 2019, were evaluated for the neurological features. The data was collected from the admission register of the LICU unit in children below 15 years age. Medical records of these children were reviewed and data collected. Established clinical criteria were used to categorize the various grades of hepatic encephalopathy/myelopathy.Results:37 children were seen over 1-year period between 6 months to 15 years age. There were 24 male(64.9%) and 13 females. Acute liver failure was seen in 19 (51.3%) and acute on chronic liver failure in 18 (48.7%). There were 10 cases of hepatitis A in acute liver failure group,10 of 19 cases (52.6%), while Wilson’s disease and undetermined etiology group formed the chronic group. 2 cases of hepatic myelopathy were seen in acute liver failure following hepatitis A infection. Both these children underwent live liver donor transplantation and recovered completely. Further in hepatitis A group,3 children had spontaneous recovery, 4 died and 1 child was discharged with end of life care. Overall out of all 37 children with liver failure,20 (54%) were discharged, 6 (16.2%) were advised end of life care and 11 (29.8%) died.Conclusion:Two cases (10.5%) of reversible hepatic myelopathy were seen in acute liver failure group of 19 cases. 18 out of 37 (48.6%) children had residual neurological features at discharge time.
      Citation: Child Neurology Open
      PubDate: 2021-01-11T10:15:48Z
      DOI: 10.1177/2329048X20983763
      Issue No: Vol. 8 (2021)
School of Mathematical and Computer Sciences
Heriot-Watt University
Edinburgh, EH14 4AS, UK
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