Abstract:
:Inherited leukodystrophies are a group of diseases affecting central nervous system myelin that lead to death or significant health problems. Although for most leukodystrophies there are no curative treatments, for a handful of diseases hematopoietic stem cell transplantation (HSCT; bone marrow transplant) can stop disease progression, and if initiated in a timely fashion, prevent many or all neurologic and other systems involvement. However, HSCT is a complex procedure with significant morbidity and mortality risks. The study goal was to determine whether HSCT was being more widely used outside of those leukodystrophies for which HSCT is typically employed. The authors conducted a 2-year retrospective review of HSCT performed across the United States in 51 children's hospitals that are part of the Pediatric Health Information System. The authors screened for 10th revision of the International Statistical Classification of Diseases and Related Health Problems (ICD-10) codes for leukodystrophies in which HSCT is "nonstandard," including sphingolipidoses, Fabry disease, Gaucher disease, and Niemann-Pick disease, and excluded patients who had ICD-10 codes for leukodystrophies that are HSCT candidates, specifically X-linked adrenoleukodystrophy, metachromatic leukodystrophy, Krabbe disease, and Hurler disease. The authors identified 91 patients (from a total cohort of 937) with one of the nonstandard leukodystrophies who had HSCT. HSCT was performed at 20 of the hospitals, with the majority performed at only 6 hospitals. Average costs ($786 846) per patient were more than 6 times higher than patients who did not have HSCT. The data show that an unexpectedly large number of leukodystrophy patients are receiving transplants for conditions in which HSCT is not typically used, and which are associated with high medical costs.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Bonkowsky JL,Wilkes J,Shyr DCdoi
10.1177/0883073818798090subject
Has Abstractpub_date
2018-12-01 00:00:00pages
882-887issue
14eissn
0883-0738issn
1708-8283journal_volume
33pub_type
杂志文章abstract::We performed a retrospective review of 65 children with developmental delay. The male-to-female ratio was 2.25 : 1, and the mean age was 5.8 years; performance IQ was 94.8, verbal IQ was 83, and full-scale IQ was 87.4. Twenty-three (35%) children had normal language development, 13 (20%) had below average language dev...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073814535486
更新日期:2015-01-01 00:00:00
abstract::Primary hypertension is associated with decreased performance on neurocognitive testing and a blunted cerebrovascular reactivity to hypercapnia. Parents of 14 children with hypertension and prehypertension completed the Behavior Rating Inventory of Executive Functions. Children underwent 24-hour ambulatory blood press...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073813494264
更新日期:2015-04-01 00:00:00
abstract::A 10-year-old boy with tuberous sclerosis complex and macrodactyly of the right index and middle fingers is described. He also had a fibrous hamartoma at the front of the right wrist. The association of fibrous hamartoma and macrodactyly has not been previously described in tuberous sclerosis complex. ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810375616
更新日期:2011-01-01 00:00:00
abstract::Urinary excretion of acetylcarnitine was measured by high-performance liquid chromatography in two experimental groups of valproate-treated rats. In the urine of mature rats weighing 180 to 200 g treated with valproate (500 mg/kg/day), acetylcarnitine levels were higher than those in controls on days 4 and 7, while L-...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389200700414
更新日期:1992-10-01 00:00:00
abstract::Gelastic seizures are characterized by inappropriate, stereotyped laughter and are often first recognized when other epileptic manifestations occur. They are frequently associated with hypothalamic hamartomas. Central nervous system developmental abnormalities are rarely reported with gelastic seizures. There is only ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380201700215
更新日期:2002-02-01 00:00:00
abstract::Autosomal inherited mitochondrial diseases have been of increasing interest among clinicians and mitochondrial research groups because these diseases are caused through a secondary effect on the mitochondrial DNA. It was thought that the genetic stability of mitochondrial DNA relies on the accuracy of DNA polymerase g...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073808324539
更新日期:2009-04-01 00:00:00
abstract::Seven school-aged children treated for temporal lobe astrocytomas with surgical resection and irradiation were prospectively tested to evaluate their intellectual, academic, personality, and neurologic status after therapy. At their most recent follow-up examination, neuropsychologic functioning was adequate in only t...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307388800300111
更新日期:1988-01-01 00:00:00
abstract::The authors conducted this study to identify whether bacille Calmette-Guérin (BCG) vaccination leads to an altered spectrum of neuroimaging findings outcome in pediatric patients with tuberculous meningitis. This retrospective study was conducted through chart review and review of computed tomography (CT) scans and ma...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073809340921
更新日期:2010-05-01 00:00:00
abstract::A 3-year-old boy who had been a 23-week premature infant had subacute onset of abnormal gait, which progressed to generalized weakness with severe weakness of neck extensors. He had U waves on electrocardiography. His serum potassium was 1.8 mmol/L. The patient had a gastrostomy tube due to chronic feeding issues and ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810382142
更新日期:2011-03-01 00:00:00
abstract::Discrimination of odorous molecules in amniotic fluid occur after 30 weeks' gestation; fetuses exhibit differential responses to maternal diet. Olfactory reflexes enable reliable neonatal testing. Olfactory bulbs can be demonstrated reliably by MRI after 30 weeks' gestation, and their hypoplasia or aplasia also docume...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073817690867
更新日期:2017-05-01 00:00:00
abstract::The use of corticosteroids for treatment of Duchenne and Becker muscular dystrophy in clinical practice from 1991 through 2005 was reviewed in a large population-based cohort (MD STARnet) of boys in 4 regional sites and 6 clinics of the United States. Corticosteroid use increased from 20% (11 of 56 individuals) in 199...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810362762
更新日期:2010-11-01 00:00:00
abstract::Phantosmia is an infrequently reported and poorly understood qualitative olfactory disorder characterized by the perception of a frequently unpleasant odor in the absence of an odorant stimulus. Peripheral phantosmia is hypothesized to involve abnormally active olfactory receptor neurons while central phantosmia is th...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812450616
更新日期:2013-06-01 00:00:00
abstract::Brain abscesses are uncommon in neonates. Klebsiella pneumoniae is a very uncommon microbial agent to cause brain abscess. We report 2 infants with Klebsiella pneumoniae sepsis who developed brain abscesses. One infant was a premature neonate who required mechanical ventilation for respiratory distress syndrome and su...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073809338326
更新日期:2010-03-01 00:00:00
abstract::A 12-year-old boy presented with complaints of seizures since the age of 7 years. Seizure semiology was consistent with origin from the right temporal lobe. Magnetic resonance imaging of the brain revealed a large right temporal and multiple small intracranial cavernomatous hemangiomas. The imaging findings and clinic...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810371226
更新日期:2010-11-01 00:00:00
abstract::From February 2006 to March 2008, 42 pregnant women homozygous for the 677CT-methylenetetrahydrofolate reductase (MTHFR) allele were recruited in our obstetrics service for pregnancy at risk. All had antithrombotic prophylaxis with low-dose aspirin and/or low-molecular-weight heparin, supplemented with folic acid. In ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073809344622
更新日期:2010-06-01 00:00:00
abstract::Using a questionnaire-based study, we assessed the parent-reported prevalence of attention-deficit hyperactivity disorders (ADHDs), autism spectrum disorders, and obsessive-compulsive disorders in a group of 351 males with Duchenne muscular dystrophy. Of the 351 males with Duchenne muscular dystrophy, 11.7% were repor...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807309775
更新日期:2008-05-01 00:00:00
abstract::Actinopathies are defined by missense mutations in the ACTA1 gene coding for sarcomeric actin, of which some 70 families have, so far, been identified. Often, but not always, muscle fibers carry large patches of actin filaments. Many such patients also have nemaline myopathy, qualifying actinopathies as a subgroup of ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738040190021201
更新日期:2004-02-01 00:00:00
abstract::Isolated cranial nerve paresis in childhood hepatitis A virus infection is rare. The authors report an instance of concomitant right-hand side palatal and abducens palsy, developing in the course of an otherwise uncomplicated hepatitis A virus infection in a 5-year-old girl. The neurological complications were transie...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073808323026
更新日期:2009-05-01 00:00:00
abstract::The relationships between the Expanded Hammersmith Functional Motor Scale (HFMSE) and genotype and motor and respiratory outcomes were examined in patients with spinal muscular atrophy types II and III (n = 70). The correlation between the HFMSE and Gross Motor Function Measure was r = 0.98. Correlations between HFMSE...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073811420294
更新日期:2011-12-01 00:00:00
abstract::The authors report on a 45-day-old boy with a congenital intramedullary tumor with clinical manifestations since birth. Neurologic examination disclosed severe bilateral lower-limb hypotonia and diplegia, with exacerbated deep tendon reflexes and clonus associated with severe pain at manipulation. Further evaluation o...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389901400711
更新日期:1999-07-01 00:00:00
abstract::Nonconvulsive status epilepticus may present with several manifestations, and many of them may not be obvious. The most important for the diagnosis of nonconvulsive status epilepticus is the electroencephalogram pattern. This is a case report of a 9-year-old boy with severe and continuous headache. He received chemoth...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807303252
更新日期:2007-05-01 00:00:00
abstract::Corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus (CRASH syndrome) is an X-linked recessive disorder caused by mutations in the neuronal cell adhesion molecule L1 (LICAM) gene. L1 plays a key role in axon outgrowth and pathfinding during the development of the nervous syste...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380001500407
更新日期:2000-04-01 00:00:00
abstract::Weight gain occurs with most neuroleptic drugs used to treat tics. Tetrabenazine, a vesicular monoamine transporter type 2 inhibitor, inhibits dopamine release. It is used to treat a variety of hyperkinetic movement disorders, including tics. Weight gain over time was compared in a group of pediatric tic patients taki...
journal_title:Journal of child neurology
pub_type: 临床试验,杂志文章
doi:10.1177/0883073807307108
更新日期:2008-04-01 00:00:00
abstract::Acute infantile bilateral striatal necrosis is a rarely described acute neurological syndrome associated with radiological findings. Its etiology and pathogenic mechanisms are unknown. Clinically, the syndrome usually follows respiratory illnesses and presents with an array of neurological findings, including axial at...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807304194
更新日期:2007-10-01 00:00:00
abstract::Our experience with two children with Joubert syndrome demonstrates how the diagnosis, if suspected by recognition of the behavioral phenotype, can rapidly be made by employing cranial sonography. This technique also may afford prenatal diagnosis of the syndrome in future siblings of confirmed cases. We have produced ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307388800300403
更新日期:1988-10-01 00:00:00
abstract::Multiple sclerosis onset in youth is increasingly recognized. A systematic review was conducted to assess incidence and prevalence of pediatric-onset multiple sclerosis, focusing on occurrence by age subgroups and disease course. A literature search for the period 1965-2018 was carried out, selecting population-based ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073819845827
更新日期:2019-10-01 00:00:00
abstract::Neuromotor function was assessed in 94 children of normal intelligence with Tourette syndrome, Tourette syndrome and attention-deficit hyperactivity disorder (ADHD), or ADHD only, using the Physical and Neurological Examination of Subtle Signs (PANESS). Time to complete six motor movements was analyzed separately by s...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389701200705
更新日期:1997-10-01 00:00:00
abstract::The few cases of antiphospholipid syndrome that have been reported in neonates are believed to have resulted from a transplacental transfer of antiphospholipid antibodies. Here we report on a boy with a neonatal stroke revealing a de novo primary antiphospholipid, the mother being free of antiphospholipid antibodies. ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073811435238
更新日期:2012-10-01 00:00:00
abstract::Alexander disease is a leukodystrophy caused by dominant missense mutations in the gene encoding the glial fibrillary acidic protein. Individuals with this disorder often present with a typical neuroradiologic pattern including white matter abnormalities with brainstem involvement, selective contrast enhancement, and ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073816673263
更新日期:2017-02-01 00:00:00
abstract::Klonopin (clonazepam; Genentech Inc, South San Francisco, California) oral wafers are benzodiazepines with anticonvulsive and anxiolytic properties. Our institution has been prescribing clonazepam wafers for acute treatment of prolonged seizures for years. Patients' size determined dosing at 0.25, 0.5, 1, or 2 mg wafe...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810368312
更新日期:2010-12-01 00:00:00