Transcranial Doppler in Childhood Moyamoya: an Underutilized Tool?
Children with moyamoya are at high risk for incident and recurrent stroke. Transcranial Doppler (TCD) ultrasound is an attractive option to screen high-risk populations for moyamoya and to provide stroke risk stratification information due to its safety and cost effectiveness. We used TCD to evaluate cerebral blood flow velocities in children with presurgical moyamoya and to determine if velocities differ between children with stable versus unstable disease. (Source: Pediatric Neurology)
Source: Pediatric Neurology - December 6, 2023 Category: Neurology Authors: Lisa R. Sun, John R. Gatti, Syed Ameen Ahmad, Noah Burton, Wendy Ziai, Rebecca F. Gottesman, Lori C. Jordan Tags: Short Communication Source Type: research
Child Neurology and Neurodevelopmental Disabilities Program Directors ’ Opinions on Preference Signaling in the 2023-2024 NRMP Match: A Survey
Major changes in the residency match process occurred as a result of or concurrent with the COVID-19 pandemic. Most importantly traditional in-person interviews were replaced by virtual interviews1,2. The United States Medical Licensing Exam (USMLE) Step 2 Clinical Skills exam was also discontinued by the Association of American Medical Colleges (AAMC) because of the pandemic. Occurring just prior to the pandemic in the US was the decision to convert the USMLE Step 1 quantitative scoring system to pass-fail3,4. (Source: Pediatric Neurology)
Source: Pediatric Neurology - December 5, 2023 Category: Neurology Authors: Quinton Mandle, Margie Ream Tags: Research Paper Source Type: research
Developmental skills and neurorehabilitation for children with Batten disease: A Retrospective chart review of a comprehensive Batten clinic
Batten disease is a rare, progressive neurogenetic disorder comprised of 13 genotypes that often presents in childhood. Children present with seizures, vision loss, and developmental regression. Neurorehabilitation services (i.e. physical therapy (PT), occupational therapy (OT), and speech-language therapy (SLP)) can help improve quality of life for children and their families. Due to the rarity of Batten disease, there are no standardized clinical recommendations or outcome assessments. (Source: Pediatric Neurology)
Source: Pediatric Neurology - December 5, 2023 Category: Neurology Authors: Rachel Bican, Virginia Goddard, Nicolas Abreu, Danielle Peifer, Andrea Basinger, Michelle Sveda, Kelly Tanner, Emily C. de los Reyes Tags: Research Paper Source Type: research
Assessing needs and perceptions of research participation in pediatric-onset multiple sclerosis: a multi-stakeholder survey
Patient-powered research networks (PPRNs) for autoimmune disease are widely used in the adult population to recruit patients and drive patient-centered research, but few have included pediatric patients. (Source: Pediatric Neurology)
Source: Pediatric Neurology - December 3, 2023 Category: Neurology Authors: Claudia Gambrah-Lyles, Varun Kannan, Tim Lotze, Aaron Abrams, Teri Schreiner, Moses Rodriguez, T. Charles Casper, John W. Rose, Mark P. Gorman, Tanuja Chitnis, Sarah Loud, Yolanda Wheeler, Soe Mar, US Network of Pediatric MS Centers Tags: Research Paper Source Type: research
Delayed Posthypoxic Leukoencephalopathy: An Unusual Consequence of Prolonged Hypoxia
A four-year-old boy was brought to our hospital after an accidental drowning in the household freshwater tank while playing. He was in cardiac arrest at arrival, and cardiopulmonary resuscitation (CPR) was initiated. Return of spontaneous circulation was achieved after three cycles of CPR, approximately 20 minutes from the time of the drowning. The Glasgow Coma Scale (GCS) was E4VTM5 four hours postresuscitation, and the child started having nonpurposeful eye opening and spontaneous movements of extremities. (Source: Pediatric Neurology)
Source: Pediatric Neurology - December 2, 2023 Category: Neurology Authors: Sujatha Manjunathan, Sai Saranya Kanakam, Smily Sharma, Sarbesh Tiwari, Daisy Khera, Lokesh Saini Tags: Short Communication Source Type: research
Delayed post-hypoxic leukoencephalopathy – An unusual consequence of prolonged hypoxia
A 4-year-old boy was brought to our hospital after an accidental drowning in the household freshwater tank while playing. He was in cardiac arrest at arrival, and cardiopulmonary resuscitation (CPR) was initiated. Return of spontaneous circulation was achieved after three cycles of CPR, approximately twenty minutes from the time of the drowning. The Glasgow coma scale (GCS) was E4VTM5 4 hours post-resuscitation, and the child started having non-purposeful eye-opening and spontaneous movements of extremities. (Source: Pediatric Neurology)
Source: Pediatric Neurology - December 2, 2023 Category: Neurology Authors: Sujatha Manjunathan, Sai Saranya Kanakam, Smily Sharma, Sarbesh Tiwari, Daisy Khera, Lokesh Saini Tags: Short Communication Source Type: research
“Hole” Exome Sequences: The Importance of Phenotyping to Fill the Gaps in Whole Exome Sequencing
Whole exome sequencing (WES) is commonly used for patients with nonspecific clinical features and conditions with genetic heterogeneity. However, a nondiagnostic exome does not exclude a genetic diagnosis, so history and physical examination is crucial to selecting appropriate genetic testing. (Source: Pediatric Neurology)
Source: Pediatric Neurology - December 1, 2023 Category: Neurology Authors: R. Colin McNamara, Sidney Zven, David E. Horvat, Juvianee Estrada Veras, John Paul Schacht Tags: Clinical Observations Source Type: research
An Open-Label Administration of Bioavailable-Form Curcumin in Patients With Pelizaeus-Merzbacher Disease
In this study, we examined the effects of curcumin in patients with PMD. (Source: Pediatric Neurology)
Source: Pediatric Neurology - December 1, 2023 Category: Neurology Authors: Akiyo Yamamoto, Yuko Shimizu-Motohashi, Akihiko Ishiyama, Kenji Kurosawa, Masayuki Sasaki, Noriko Sato, Hitoshi Osaka, Jun-ichi Takanashi, Ken Inoue Tags: Short Communication Source Type: research
An open-label administration of bioavailable-form curcumin on patients with Pelizaeus-Merzbacher disease
In this study, we examined the effects of curcumin in patients with PMD. (Source: Pediatric Neurology)
Source: Pediatric Neurology - December 1, 2023 Category: Neurology Authors: Akiyo Yamamoto, Yuko Shimizu-Motohashi, Akihiko Ishiyama, Kenji Kurosawa, Masayuki Sasaki, Noriko Sato, Hitoshi Osaka, Jun-ichi Takanashi, Ken Inoue Tags: Short Communication Source Type: research
Hammersmith Infant Neurological Examination Subscores are Predictive of Cerebral Palsy
This study aimed to investigate the individual HINE subscores and “asymmetries” as predictive indicators of CP. (Source: Pediatric Neurology)
Source: Pediatric Neurology - December 1, 2023 Category: Neurology Authors: Namarta Kapil, Bittu Majmudar-Sheth, Tara Johnson Tags: Research Paper Source Type: research
“Hole" Exome Sequences- The Importance of Phenotyping to Fill the Gaps in Whole Exome Sequencing
We report 3 patients with 3 recognizable phenotypes: a 7-year-old female with classic Rett syndrome, a 28-year-old male with neuropathy, ataxia, and retinitis pigmentosa, and a 16-year-old male with mosaic, segmental, paternal Uniparental Disomy 14 who had non-diagnostic WES. (Source: Pediatric Neurology)
Source: Pediatric Neurology - December 1, 2023 Category: Neurology Authors: R. Colin McNamara, Sidney Zven, David Horvat, Juvianee Estrada Veras, John Paul Schacht Tags: Short Communication Source Type: research
Newborn Screening for Krabbe Disease and Identification of Minority Patients
Krabbe disease (KD) is a leukodystrophy caused by mutations in the galactosylceramidase (GALC) gene (Orsini et al., 1993). Treatment for KD consists of hematopoietic stem cell transplantation (HSCT), which is effective only if performed prior to symptom onset (Allewelt et al., 2017). Recent work has shown under-diagnosis of KD in Black and Hispanic children, and that certain racial/ethnic groups were less likely to receive HSCT (Bonkowsky et al., 2018; Ghabash et al., 2021). The potential for treatment with HSCT has led to efforts to increase early identification of KD patients with newborn screening (NBS) (Kwon et al., 20...
Source: Pediatric Neurology - November 30, 2023 Category: Neurology Authors: Joshua L. Bonkowsky, Jacob Wilkes, Monika Baker, Anna Grantham, Joanne Kurtzberg, Joseph Orsini Tags: Short Communication Source Type: research
Research priorities of the pediatric spinal cord injury population: an international insight for rehabilitation care
This study describes and compares health and life (H&L) domain research priorities of youth with pediatric-onset SCI and their parents/caregivers. (Source: Pediatric Neurology)
Source: Pediatric Neurology - November 30, 2023 Category: Neurology Authors: Marta R íos-León, Bashak Onal, Juan Carlos Arango-Lasprilla, Marika Augutis, Allison Graham, Erin Hayes Kelly, Antonis Kontaxakis, Elisa López-Dolado, Anke Scheel-Sailer, Svetlana Valiullina, PEPSCI Collaboration, Julian Taylor Tags: Research Paper Source Type: research
Impact of a national follow-up program on the age at diagnosis for cerebral palsy
The diagnostic age of CP did not change after the implementation of a nationwide follow-up program, offering standardized and early assessments. However, central clinical aspects also changed significantly between the periods compared, which possibly affected the diagnostic age. (Source: Pediatric Neurology)
Source: Pediatric Neurology - November 30, 2023 Category: Neurology Authors: Rebecca Alison Fabricius, Mads Langager Larsen, Nanette Mol Debes, Gija Rackauskaite, Christina Engel Hoei-Hansen Tags: Research Paper Source Type: research
Sunflower Syndrome: A Survey of Provider Awareness and Management Preferences
This study assessed neurology providers ’ diagnostic reasoning, evaluation, and treatment of Sunflower syndrome. (Source: Pediatric Neurology)
Source: Pediatric Neurology - November 30, 2023 Category: Neurology Authors: Fiona M. Baumer, Kristina Julich, Jennifer Friedman, Mark Nespeca, Elizabeth A. Thiele, Sonal Bhatia, Charuta Joshi Tags: Research Paper Source Type: research
