Abstract:
OBJECTIVE:We performed a retrospective chart review of patients with trisomy 21 and infantile spasms in our university-based pediatric epilepsy center between 2002 and 2016 in order to describe the clinical characteristics of children with these diagnoses as well as to evaluate their response to first-line treatments. METHODS:Patients with infantile spasms were identified via the neurophysiology database. Charts were reviewed with attention to infantile spasms diagnosis, presence of trisomy 21, age of reported clinical onset, treatment lag, treatments used, response to treatment, imaging findings, electroencephalography (EEG) data, and developmental outcomes. RESULTS:Of the 310 patients with infantile spasms, 24 also had trisomy 21. Three patients did not meet inclusion criteria. Ten of the 21 patients received nonstandard therapies first line; 2 of the 10 (20%) achieved spasm control, and 4 of the 8 who failed therapy (50%) progressed to Lennox-Gastaut syndrome. Eleven of the 21 patients received standard therapies as first-line treatments (10 with prednisolone according to the protocol in the United Kingdom Infantile Spasms Study [UKISS] and 1 with adrenocorticotrophic hormone [ACTH]). Nine of the 10 patients (90%) who received prednisolone achieved spasm resolution, 6 (60%) of these without relapse. The final patient (10%) failed prednisolone as well as ACTH. One patient received ACTH first line with success. CONCLUSION:This is the only series to follow children with trisomy 21 and infantile spasms in which a significant proportion received UKISS-protocol prednisolone. It adds to current knowledge about safety, tolerability, and effectiveness of prednisolone in this group.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Armstrong D,Said RRdoi
10.1177/0883073819850650subject
Has Abstractpub_date
2019-10-01 00:00:00pages
646-652issue
11eissn
0883-0738issn
1708-8283journal_volume
34pub_type
杂志文章abstract::Epilepsy is a very uncommon first manifestation of a neuroblastoma. A 5-month-old healthy infant presented with acute onset seizures and developmental regression. Extensive investigation was remarkable for urinary vanillylmandelic acid and homovanillic acid peaks. Abdominopelvic magnetic resonance imaging (MRI) disclo...
journal_title:Journal of child neurology
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doi:10.1177/0883073812461946
更新日期:2014-01-01 00:00:00
abstract:OBJECTIVE:To quantify the number of personnel, time to induce and complete sedation using propofol for outpatient magnetic resonance imaging (MRI) of the brain, and the frequency of serious adverse events (SAEs) in children with autism spectrum disorder (ASD) compared with children without ASD. RESULTS:Baseline charac...
journal_title:Journal of child neurology
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doi:10.1177/0883073817753908
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abstract:OBJECTIVE:To analyze the available literature on papilledema in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), report the first detailed pediatric case, and explore the underlying pathophysiology. METHODS:First, we conducted a comprehensive literature review of all cases of papilledema in CIDP. Next...
journal_title:Journal of child neurology
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abstract::Using quantitative magnetic resonance imaging morphometry, we report that the whole brain volumes of patients with neurofibromatosis-1 are significantly larger than normal, confirm the prevalence of macrocephaly as about 50%, and report that macrocephaly in patients with neurofibromatosis-1 does not appear to be relat...
journal_title:Journal of child neurology
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doi:10.1177/088307380001500303
更新日期:2000-03-01 00:00:00
abstract::Recent technological advances in gene sequencing have led to a rapid increase in gene discovery in epilepsy. However, the ability to assess pathogenicity of variants, provide functional analysis, and develop targeted therapies has not kept pace with rapid advances in sequencing technology. Thus, although clinical gene...
journal_title:Journal of child neurology
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abstract::The neuronal ceroid lipofuscinoses represent a group of disorders characterized by neurodegeneration and intracellular accumulation of an auto-fluorescent lipopigment (ceroid lipofuscin). Together, they represent the most prevalent class of childhood neurodegenerative disease. The neuronal ceroid lipofuscinoses encomp...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073813494268
更新日期:2013-09-01 00:00:00
abstract::Abnormal cerebral venous drainage is associated with hypoxia and glucose deprivation, which can account for progressive neurologic deterioration in Sturge-Weber syndrome. Although developmental delay is common in Sturge-Weber syndrome, bihemispheric calcification is uncommon. Computed tomography (CT) and magnetic reso...
journal_title:Journal of child neurology
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doi:10.1177/088307389801301203
更新日期:1998-12-01 00:00:00
abstract::Cortical dysplasia is now recognized as one of the major etiologies causing intractable epilepsy in childhood. Dysplastic cortex displays cortical dyslamination, which is often associated with dysmorphic large neurons and less frequently with balloon cells. The dysmorphic large neurons are commonly located in the subc...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/08830738050200040601
更新日期:2005-04-01 00:00:00
abstract::Hypertensive encephalopathy is an uncommon but recognized complication of malignant hypertension in children. We reviewed the clinical course, laboratory studies, and outcomes of 12 patients with hypertensive encephalopathy seen at the University of Iowa Hospitals and Clinics between 1979 and 1994. The most common pre...
journal_title:Journal of child neurology
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更新日期:1996-05-01 00:00:00
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journal_title:Journal of child neurology
pub_type: 杂志文章,评审
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更新日期:1991-01-01 00:00:00
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journal_title:Journal of child neurology
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abstract::Seizures occur in 25% to 40% of children with supratentorial tumors and are the presenting complaint in 10% to 15%. However, when divided by age, only 2% of children with seizures as the presenting complaint of brain tumors were less than 1 year of age. Three children, ranging in age from 20 days to 7 months and seen ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307388700200308
更新日期:1987-07-01 00:00:00
abstract::The prognosis in infants with brain tumors has historically been very poor. This study reviews 16 infants under the age of 12 months with brain tumors who presented to our institution between 1988 and 1999. The aim was to describe the clinical presentation, diagnosis, and management of these patients and to establish ...
journal_title:Journal of child neurology
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doi:10.1177/088307380401900605
更新日期:2004-06-01 00:00:00
abstract::Baclofen is widely used to control spasticity in children with cerebral palsy. Several publications described clinical adverse effects of baclofen oral treatment, but the effect of baclofen on seizure potentiation is still controversial. We describe a 10-year-old female patient with cerebral palsy, epilepsy, and menta...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073809357243
更新日期:2010-10-01 00:00:00
abstract::Little is known about psychiatric aspects of pediatric demyelinating conditions. A total of 23 youths (6-17 years) with demyelinating conditions underwent semistructured psychiatric interviews using the Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version. Adolescents...
journal_title:Journal of child neurology
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journal_title:Journal of child neurology
pub_type: 杂志文章,评审
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更新日期:2016-01-01 00:00:00
abstract::Autism is characterized by social deficits, communication and language impairments, narrow restricted interests, repetitive behaviors, inattention, and hyperactivity. While selective serotonin reuptake inhibitors have demonstrated efficacy in treating core symptoms of autism, norepinephrine reuptake inhibitors have de...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380001500214
更新日期:2000-02-01 00:00:00
abstract::To investigate the significance of electroencephalogram (EEG) discharges and their treatment, we retrospectively reviewed the charts of 22 children with atypical cognitive development that did not respond to standard educational therapy and demonstrated discharges on EEG. Most children demonstrated no obvious symptoms...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073809344743
更新日期:2010-05-01 00:00:00
abstract::Thromboembolic events during the perinatal period are responsible for irreversible brain damage owing to cerebral hypoxia and neuronal necrosis. We investigated the presence of thrombophilia risk factors in children with congenital neurologic disorders. Nineteen children (9 males and 10 females), aged 1 to 14 years (m...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738050200060701
更新日期:2005-06-01 00:00:00
abstract:AIM:To investigate the impact of concussion on pupillary function in children by examining pupillometric parameters and assessing for differences in children reporting photosensitivity. METHODS:Retrospective chart review was performed of pediatric patients referred for visual symptoms after concussion from 2017 to 201...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073820964040
更新日期:2021-03-01 00:00:00
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journal_title:Journal of child neurology
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更新日期:2013-10-01 00:00:00
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journal_title:Journal of child neurology
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journal_title:Journal of child neurology
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更新日期:2007-05-01 00:00:00
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journal_title:Journal of child neurology
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更新日期:2012-10-01 00:00:00
abstract::The acquired alexia with agraphia syndrome is a conspicuous disorder of reading and writing in the absence of significant other language impairments that has mainly been recorded in adults. Pure cases are rare, with most patients displaying mild aphasic deficits. In children, acquired reading and writing disorders are...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738060210042101
更新日期:2006-04-01 00:00:00
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journal_title:Journal of child neurology
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更新日期:2017-01-01 00:00:00
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journal_title:Journal of child neurology
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doi:10.1177/088307389901400815
更新日期:1999-08-01 00:00:00
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journal_title:Journal of child neurology
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更新日期:2020-03-01 00:00:00
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journal_title:Journal of child neurology
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更新日期:2013-10-01 00:00:00
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journal_title:Journal of child neurology
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更新日期:2006-02-01 00:00:00