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Article ; Online: Comment: Genotype-phenotype correlations in NF1: A case for routine genetic testing.

Campen, Cynthia J / Greenwood, Robert S

2018 Volume 90, Issue 8, Page(s) 380

MeSH term(s)	Autistic Disorder ; Genetic Association Studies ; Genetic Testing ; Humans ; Neurofibromatosis 1/genetics ; Phenotype
Language	English
Publishing date	2018-01-24
Publishing country	United States
Document type	Journal Article ; Comment
ZDB-ID	207147-2
ISSN	1526-632X ; 0028-3878
ISSN (online)	1526-632X
ISSN	0028-3878
DOI	10.1212/WNL.0000000000005009
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Article ; Online: Changing child neurology training: evolution or revolution?

Greenwood, Robert S

Journal of child neurology

2012 Volume 27, Issue 2, Page(s) 264–266

Abstract: Child neurology training must change as our understanding of the diseases of the developing nervous system increases. A proposed child neurology training path leading to certification in child neurology would eliminate all but 3 months of adult neurology ...

Abstract	Child neurology training must change as our understanding of the diseases of the developing nervous system increases. A proposed child neurology training path leading to certification in child neurology would eliminate all but 3 months of adult neurology training; however gaining approval for a new Accreditation Council for Graduate Medical Education (ACGME) training program would be an arduous task. I review why this change would add significant administrative and financial burdens and how this change in training could negatively affect the education of child neurology residents. I believe that modifications of the current training requirements already underway could achieve the same aims with fewer losses.
MeSH term(s)	Education, Medical, Graduate/standards ; Humans ; Neurology/education ; Pediatrics/education
Language	English
Publishing date	2012-02
Publishing country	United States
Document type	Journal Article
ZDB-ID	639288-x
ISSN	1708-8283 ; 0883-0738
ISSN (online)	1708-8283
ISSN	0883-0738
DOI	10.1177/0883073811427604
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Article: Stroke-Like Presentation Following Febrile Seizure in a Patient with 1q43q44 Deletion Syndrome.

Robinson, J Elliott / Wolfe, Stephanie M / Kaiser-Rogers, Kathleen / Greenwood, Robert S

Frontiers in neurology

2016 Volume 7, Page(s) 67

Abstract: Hemiconvulsion-hemiplegia-epilepsy syndrome (HHE) is a rare outcome of prolonged hemiconvulsion that is followed by diffuse unilateral hemispheric edema, hemiplegia, and ultimately hemiatrophy of the affected hemisphere and epilepsy. Here, we describe ... ...

Abstract	Hemiconvulsion-hemiplegia-epilepsy syndrome (HHE) is a rare outcome of prolonged hemiconvulsion that is followed by diffuse unilateral hemispheric edema, hemiplegia, and ultimately hemiatrophy of the affected hemisphere and epilepsy. Here, we describe the case of a 3-year-old male with a 1;3 translocation leading to a terminal 1q43q44 deletion and a terminal 3p26.1p26.3 duplication that developed HHE after a prolonged febrile seizure and discuss the pathogenesis of HHE in the context of the patient's complex genetic background.
Language	English
Publishing date	2016-05-04
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2564214-5
ISSN	1664-2295
ISSN	1664-2295
DOI	10.3389/fneur.2016.00067
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Article: Anti-NMDA receptor encephalitis subacute cerebellitis remarkably responsive to rituximab

Kumar, Shilpi / Fan, Zheng / Greenwood, Robert S.

Journal of Pediatric Neurology

2013 Volume 11, Issue 01, Page(s) 35–38

Abstract: We report a case of a child presenting with sub-acute cerebellar ataxia that was associated with anti- N-methyl-D- aspartate (NMDA) receptor antibodies who dramatically responded to early aggressive immunomodulating therapy but not to conventional ... ...

Abstract	We report a case of a child presenting with sub-acute cerebellar ataxia that was associated with anti- N-methyl-D- aspartate (NMDA) receptor antibodies who dramatically responded to early aggressive immunomodulating therapy but not to conventional therapy. A three-year-old boy with history of prematurity and speech delays presented with subacute onset ataxia followed by progression to choreoathetosis, dysphagia, oro-facial dyskinesia, insomnia, aggressive behavior and loss of speech. An extensive work up for causes of ataxia and occult malignancy was negative except for presence of oligoclonal bands and anti-NMDA receptor antibodies in the cerebrospinal fluid. The patient did not improve despite treatment with steroids and intravenous immunoglobulin. His first improvement occurred within 48 hr of rituximab infusion and with continued rituximab he returned to his neurological baseline. This anti-NMDA receptor encephalitis case presented as cerebellar ataxia refractory to conventional treatment and responded to rituximab.
Keywords	Encephalitis ; immunotherapy ; ataxia ; rituximab
Language	English
Publishing date	2013-03-01
Publisher	Georg Thieme Verlag KG
Publishing place	Stuttgart ; New York
Document type	Article
ISSN	1875-9041 ; 1304-2580
ISSN (online)	1875-9041
ISSN	1304-2580
DOI	10.3233/JPN-120595
Database	Thieme publisher's database

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Article: Damage control: the influence of environment on recovery from brain injury.

Greenwood, Robert S / Parent, Jack M

Neurology

2002 Volume 59, Issue 9, Page(s) 1302–1303

MeSH term(s)	Animals ; Brain/physiopathology ; Environment Design ; Status Epilepticus/physiopathology ; Status Epilepticus/rehabilitation
Language	English
Publishing date	2002-10-21
Publishing country	United States
Document type	Comment ; Editorial ; Review
ZDB-ID	207147-2
ISSN	1526-632X ; 0028-3878
ISSN (online)	1526-632X
ISSN	0028-3878
DOI	10.1212/wnl.59.9.1302
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Article: Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.

Neurology. Genetics

2018 Volume 4, Issue 1, Page(s) e212

Abstract: Objective: To evaluate the diagnostic yield and workflow of genome-scale sequencing in patients with neuromuscular disorders (NMDs).: Methods: We performed exome sequencing in 93 undiagnosed patients with various NMDs for whom a molecular diagnosis ... ...

Abstract	Objective: To evaluate the diagnostic yield and workflow of genome-scale sequencing in patients with neuromuscular disorders (NMDs). Methods: We performed exome sequencing in 93 undiagnosed patients with various NMDs for whom a molecular diagnosis was not yet established. Variants on both targeted and broad diagnostic gene lists were identified. Prior diagnostic tests were extracted from the patient's medical record to evaluate the use of exome sequencing in the context of their prior diagnostic workup. Results: The overall diagnostic yield of exome sequencing in our cohort was 12.9%, with one or more pathogenic or likely pathogenic variants identified in a causative gene associated with the patient's disorder. Targeted gene lists had the same diagnostic yield as a broad NMD gene list in patients with clear neuropathy or myopathy phenotypes, but evaluation of a broader set of disease genes was needed for patients with complex NMD phenotypes. Most patients with NMD had undergone prior testing, but only 10/16 (63%) of these procedures, such as muscle biopsy, were informative in pointing to a final molecular diagnosis. Conclusions: Genome-scale sequencing or analysis of a panel of relevant genes used early in the evaluation of patients with NMDs can provide or clarify a diagnosis and minimize invasive testing in many cases.
Language	English
Publishing date	2018-02-01
Publishing country	United States
Document type	Journal Article
ZDB-ID	2818607-2
ISSN	2376-7839
ISSN	2376-7839
DOI	10.1212/NXG.0000000000000212
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Article ; Online: Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.

Vals, Mari-Anne / Ashikov, Angel / Ilves, Pilvi / Loorits, Dagmar / Zeng, Qiang / Barone, Rita / Huijben, Karin / Sykut-Cegielska, Jolanta / Diogo, Luísa / Elias, Abdallah F / Greenwood, Robert S / Grunewald, Stephanie / van Hasselt, Peter M / van de Kamp, Jiddeke M / Mancini, Grazia / Okninska, Agnieszka / Pajusalu, Sander / Rudd, Pauline M / Rustad, Cecilie F /

Salvarinova, Ramona / de Vries, Bert B A / Wolf, Nicole I / Ng, Bobby G / Freeze, Hudson H / Lefeber, Dirk J / Õunap, Katrin

Journal of inherited metabolic disease

2019 Volume 42, Issue 3, Page(s) 553–564

Abstract: SLC35A2-CDG is caused by mutations in the X-linked SLC35A2 gene encoding the UDP-galactose transporter. SLC35A2 mutations lead to hypogalactosylation of N-glycans. SLC35A2-CDG is characterized by severe neurological symptoms and, in many patients, early- ... ...

Abstract	SLC35A2-CDG is caused by mutations in the X-linked SLC35A2 gene encoding the UDP-galactose transporter. SLC35A2 mutations lead to hypogalactosylation of N-glycans. SLC35A2-CDG is characterized by severe neurological symptoms and, in many patients, early-onset epileptic encephalopathy. In view of the diagnostic challenges, we studied the clinical, neuroradiological, and biochemical features of 15 patients (11 females and 4 males) with SLC35A2-CDG from various centers. We describe nine novel pathogenic variations in SLC35A2. All affected individuals presented with a global developmental delay, and hypotonia, while 70% were nonambulatory. Epilepsy was present in 80% of the patients, and in EEG hypsarrhythmia and findings consistent with epileptic encephalopathy were frequently seen. The most common brain MRI abnormality was cerebral atrophy with delayed myelination and multifocal inhomogeneous abnormal patchy white matter hyperintensities, which seemed to be nonprogressive. Thin corpus callosum was also common, and all the patients had a corpus callosum shorter than normal for their age. Variable dysmorphic features and growth deficiency were noted. Biochemically, normal mucin type O-glycosylation and lipid glycosylation were found, while transferrin mass spectrometry was found to be more specific in the identification of SLC35A2-CDG, as compared to routine screening tests. Although normal glycosylation studies together with clinical variability and genetic results complicate the diagnosis of SLC35A2-CDG, our data indicate that the combination of these three elements can support the pathogenicity of mutations in SLC35A2.
MeSH term(s)	Adolescent ; Atrophy ; Brain Diseases/pathology ; Child ; Child, Preschool ; Congenital Disorders of Glycosylation/genetics ; Congenital Disorders of Glycosylation/pathology ; Female ; Glycosylation ; Humans ; Infant ; Internationality ; Magnetic Resonance Imaging ; Male ; Mass Spectrometry ; Monosaccharide Transport Proteins/genetics ; Mutation ; Spasms, Infantile/pathology ; Young Adult
Chemical Substances	Monosaccharide Transport Proteins ; UDP-galactose translocator
Language	English
Publishing date	2019-02-11
Publishing country	United States
Document type	Journal Article ; Multicenter Study ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	438341-2
ISSN	1573-2665 ; 0141-8955
ISSN (online)	1573-2665
ISSN	0141-8955
DOI	10.1002/jimd.12055
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Article: Did a rising tide lift all boats? The NIH budget and pediatric research portfolio.

Gitterman, Daniel P / Greenwood, Robert S / Kocis, Keith C / Mayes, B Rick / McKethan, Aaron N

Health affairs (Project Hope)

2004 Volume 23, Issue 5, Page(s) 113–124

Abstract: This paper examines National Institutes of Health (NIH) pediatric research spending in absolute terms and relative to the doubling of the NIH overall budget between fiscal years 1998 and 2003. Pediatric spending increased by an average annual rate of 12 ... ...

Abstract	This paper examines National Institutes of Health (NIH) pediatric research spending in absolute terms and relative to the doubling of the NIH overall budget between fiscal years 1998 and 2003. Pediatric spending increased by an average annual rate of 12.8 percent during the doubling period (almost on par with the NIH average annual growth rate of 14.7 percent). However, the proportion of the total NIH budget devoted to the pediatric portfolio declined from 12.3 to 11.3 percent. We offer recommendations for implementing existing commitments to strengthen the pediatric research portfolio and to protect the gains of the doubling period.
MeSH term(s)	Budgets ; Child ; Child Health Services/legislation & jurisprudence ; Child, Preschool ; Financing, Government/trends ; Health Expenditures ; Humans ; National Institutes of Health (U.S.)/economics ; Pediatrics ; Research Support as Topic/trends ; United States
Language	English
Publishing date	2004-09
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	632712-6
ISSN	1544-5208 ; 0278-2715
ISSN (online)	1544-5208
ISSN	0278-2715
DOI	10.1377/hlthaff.23.5.113
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Article: Morphometric and neuropsychologic studies in children with arachnoid cysts.

Zaatreh, Megdad M / Bates, Elizabeth R / Hooper, Stephen R / Palmer, Glen / Elmenshawi, Ebrahim E / Courvoisie, Helen E / Greenwood, Robert S

Pediatric neurology

2002 Volume 26, Issue 2, Page(s) 134–138

Abstract: Temporal lobe arachnoid cysts are common findings during brain imaging. Debate exists regarding whether they result from temporal lobe agenesis or are a malformation of the arachnoid matter. We measured temporal lobe volumes in five children with left ... ...

Abstract	Temporal lobe arachnoid cysts are common findings during brain imaging. Debate exists regarding whether they result from temporal lobe agenesis or are a malformation of the arachnoid matter. We measured temporal lobe volumes in five children with left middle cranial fossa arachnoid cysts using morphometric analysis of magnetic resonance imaging scans. Three patients had neuropsychologic testing, and two patients had positron emission tomography scanning. All patients had significantly smaller left temporal lobes compared with the right side. On neuropsychologic testing two patients had cognitive deficits suggestive of left temporal lobe dysfunction. Temporal lobes adjacent to arachnoid cysts are smaller and less metabolically active when compared with the temporal regions on the opposite side. Patients with middle cranial fossa arachnoid cysts should undergo careful assessment of temporal lobe structure and function before any therapeutic intervention.
MeSH term(s)	Adolescent ; Arachnoid Cysts/congenital ; Arachnoid Cysts/diagnosis ; Cephalometry ; Child ; Child, Preschool ; Dominance, Cerebral/physiology ; Female ; Humans ; Intelligence/physiology ; Magnetic Resonance Imaging ; Male ; Neuropsychological Tests ; Temporal Lobe/abnormalities ; Temporal Lobe/pathology ; Tomography, Emission-Computed
Language	English
Publishing date	2002-02
Publishing country	United States
Document type	Journal Article
ZDB-ID	639164-3
ISSN	1873-5150 ; 0887-8994
ISSN (online)	1873-5150
ISSN	0887-8994
DOI	10.1016/s0887-8994(01)00379-4
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Article: Brain morphometry, T2-weighted hyperintensities, and IQ in children with neurofibromatosis type 1.

Greenwood, Robert S / Tupler, Larry A / Whitt, J Kenneth / Buu, Anne / Dombeck, Carrie B / Harp, Amanda G / Payne, Martha E / Eastwood, James D / Krishnan, K Ranga R / MacFall, James R

Archives of neurology

2005 Volume 62, Issue 12, Page(s) 1904–1908

Abstract: Background: Larger gray matter (GM) volume in healthy children is correlated with higher IQ. Children with neurofibromatosis type 1 (NF1) have larger brains, their magnetic resonance images frequently show T2-weighted hyperintensities, and their IQs are ...

Abstract	Background: Larger gray matter (GM) volume in healthy children is correlated with higher IQ. Children with neurofibromatosis type 1 (NF1) have larger brains, their magnetic resonance images frequently show T2-weighted hyperintensities, and their IQs are lower. Objectives: To confirm the hypotheses that (1) children with NF1 have larger GM and white matter volumes, (2) the greatest volume differences are in the frontal and parietal regions and in children with NF1 with hyperintensities, and (3) GM volume is inversely related to IQ in children with NF1. Design: Wechsler Intelligence Scale for Children-Third Edition IQ testing and measurement of cerebral volumes and hyperintensities in brain magnetic resonance images were performed on 36 children with NF1 and on 36 matched relatives who served as control subjects. Results: Gray matter and white matter volumes were significantly larger in children with NF1. The greatest difference was observed in cerebral white matter volume, predominantly in the frontal lobes, whereas the greatest difference in GM volume was in the temporal, parietal, and occipital regions. In controls, IQ was significantly related to GM volume, but in children with NF1, IQ was not inversely associated with GM volume, although IQs of children with NF1 were significantly lower. Conclusions: Children with NF1 do not have the normal relationship between GM volume and IQ. Larger GM volume in the posterior brain regions and larger white matter volumes in the frontal brain regions contribute to the larger brain volume in children with NF1.
MeSH term(s)	Brain/abnormalities ; Brain/pathology ; Brain/physiopathology ; Child ; Cognition Disorders/etiology ; Cognition Disorders/pathology ; Cognition Disorders/psychology ; Diffusion Magnetic Resonance Imaging ; Female ; Humans ; Hypertrophy/genetics ; Hypertrophy/pathology ; Hypertrophy/physiopathology ; Intelligence/physiology ; Intelligence Tests ; Male ; Motor Skills Disorders/etiology ; Motor Skills Disorders/pathology ; Motor Skills Disorders/psychology ; Nerve Fibers, Myelinated/pathology ; Neurofibromatosis 1/complications ; Neurofibromatosis 1/pathology ; Neurofibromatosis 1/physiopathology ; Perceptual Disorders/genetics ; Perceptual Disorders/pathology ; Perceptual Disorders/psychology
Language	English
Publishing date	2005-12
Publishing country	United States
Document type	Comparative Study ; Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	80049-1
ISSN	1538-3687 ; 0003-9942
ISSN (online)	1538-3687
ISSN	0003-9942
DOI	10.1001/archneur.62.12.1904
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