Abstract:
:Growth failure is nearly universal in spinal muscular atrophy type 1 and common in type 2, although acuity is often underappreciated at initial diagnosis. We reviewed 44 consecutive spinal muscular atrophy patients (28 type 1, 16 type 2) under 3 years at initial presentation. Growth failure was conventionally defined: weight below the fifth percentile or dropping 2 major percentiles over 6 months. Growth failure differed among subjects stratified by age at disease onset using the Kaplan-Meier method (P = 0.011). Median time to growth failure among subjects with onset between 0 to 3 months of age was 5 months; Only 1 of 22 avoided failure by 22 months of age. Median time to failure with disease onset between 4 to 6 months was 15 months. Most late onset (> 6 months) subjects avoided growth failure. Early clinical symptoms predict feeding dysfunction and growth failure. Immediate, proactive nutritional intervention is indicated for patients with early symptom onset.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Sproule DM,Hasnain R,Koenigsberger D,Montgomery M,De Vivo DC,Kaufmann Pdoi
10.1177/0883073811415680subject
Has Abstractpub_date
2012-07-01 00:00:00pages
845-51issue
7eissn
0883-0738issn
1708-8283pii
0883073811415680journal_volume
27pub_type
杂志文章abstract::Seven children with neuromuscular disease were placed on mechanical ventilation before the age of 2 years. The outcome for these patients was variable and did not correlate with primary diagnosis. There appeared to be a high correlation between the incidence of electrocardiogram changes and death. Our experience demon...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307388800300106
更新日期:1988-01-01 00:00:00
abstract::Three patients with Leigh's syndrome developed respiratory failure following general anesthesia. Although all three had respiratory symptoms prior to the anesthetic, the diagnosis was not suspected at the time of the procedure in two of the children. We reviewed the case notes of 16 other patients with Leigh's syndrom...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389000500214
更新日期:1990-04-01 00:00:00
abstract::During the 4-year period, 1982-1986, 18 patients presented to the Children's Hospital, Camperdown, Sydney, with the following features: (1) Recurrent "absences" clinically indistinguishable from childhood absence epilepsy, (2) Normal clinical examination, (3) Electroencephalogram (EEG) demonstrating normal waking back...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389000500403
更新日期:1990-10-01 00:00:00
abstract::Duchenne muscular dystrophy results in a broad spectrum of physical and psychosocial consequences, both to patient and caregivers. This study was aimed to explore health-related quality of life and its possible determinants in Duchenne muscular dystrophy children and in their parents. Caregivers (21 mothers and 6 fath...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810389043
更新日期:2011-06-01 00:00:00
abstract::The authors describe the case of an 8-year-old boy, otherwise healthy, who presented with symptoms consistent with attention-deficit hyperactivity disorder (ADHD) and was started on a trial of methylphenidate. Within 4 weeks, he experienced a rapid decline in fine motor skills, with dysarthria, intention tremor, motor...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073808314152
更新日期:2008-07-01 00:00:00
abstract::Spinal muscular atrophy is one of the most heterogeneous of the single-gene neuromuscular disorders. The broad spectrum of severity, with onset from the prenatal period to adulthood, presents unique challenges in the design and implementation of clinical trials. The clinical classification of subjects into severe (typ...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073807305665
更新日期:2007-08-01 00:00:00
abstract::In this era of changing priorities, regulations, and resources, it is useful to look both back and forward at the building of a division of child neurology in the context of the emergence of child neurology as a nationally and internationally recognized distinct subspecialty of both pediatrics and neurology. Both Pitt...
journal_title:Journal of child neurology
pub_type: 传,历史文章
doi:10.1177/08830738030180020401
更新日期:2003-02-01 00:00:00
abstract::Solitary tumefactive demyelination is rare in children, and the diagnosis is often conferred after brain biopsy. The authors report 3 children with solitary tumefactive demyelination and provide clinical and paraclinical clues to aid the clinician in reaching a diagnosis using a noninvasive approach. ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073811401402
更新日期:2011-08-01 00:00:00
abstract::A 15-month-old girl demonstrated progressive weakness in all limbs. Magnetic resonance imaging (MRI) on admission revealed (1) diffuse and symmetric cervical cord swelling, (2) diffuse decrease and increase in signal intensity within the affected cord on T1- and T2-weighted images, respectively, (3) preserved anatomic...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389200700214
更新日期:1992-04-01 00:00:00
abstract::Sixty-four children, aged 0-17 years, undergoing ambulatory electroencephalography (EEG) were prospectively recruited during a 12-month period. The diagnostic yield of ambulatory electroencephalography was determined for each of the following groups: group 1: differentiation of seizures from nonepileptic events; group...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073808314158
更新日期:2008-06-01 00:00:00
abstract::The cerebellum undergoes a protracted development, making it particularly vulnerable to a broad spectrum of developmental events. Acquired destructive and hemorrhagic insults may also occur. The main steps of cerebellar development are reviewed. The normal imaging patterns of the cerebellum in prenatal ultrasound and ...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073811420148
更新日期:2011-12-01 00:00:00
abstract::Maternal intrauterine inflammation has been implicated in the development of periventricular leukomalacia and white matter injury in the neonate. We hypothesized that intrauterine endotoxin administration would lead to microstructural changes in the neonatal rabbit white matter in vivo that could be detected at birth ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073809338213
更新日期:2009-09-01 00:00:00
abstract::Respiratory syncytial virus is a common cause of acute respiratory infection in children. Previous reports have associated respiratory syncytial virus infection and acute neurologic symptoms, including apnea and seizures. This study examined the prevalence of acute neurologic symptoms associated with respiratory syncy...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738040190110301
更新日期:2004-11-01 00:00:00
abstract::Motor speed and accuracy are both affected in childhood dystonia. Thus, deriving a speed-accuracy function is an important metric for assessing motor impairments in dystonia. Previous work in dystonia studied the speed-accuracy trade-off during point-to-point tasks. To achieve a more relevant measurement of functional...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073815578526
更新日期:2015-10-01 00:00:00
abstract::Muscular dystrophies are composed of a variety of genetic muscle disorders linked to different chromosomes and loci and associated with different gene mutations that lead to progressive muscle atrophy and weakness. Fukuyama congenital muscular dystrophy is frequently associated with partial and generalized epilepsy an...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738060210021601
更新日期:2006-02-01 00:00:00
abstract::Our objective was to delineate the educational and behavioral differences between learning disabled children with and without attention-deficit hyperactivity disorder (ADHD). A restrospective (TROHOC) multimeasure comparative design was employed. Parents' and teachers' questionnaires (ANSER system) pertaining to atten...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389801300606
更新日期:1998-06-01 00:00:00
abstract::We analyzed clinical and instrumental data of 403 consecutive newborns with gestational age from 24 to 32 weeks, admitted to the University-Hospital of Parma between January 2000 and December 2007, to evaluate the possible relationship between neonatal mortality and occurrence of neonatal seizures in very preterm newb...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073811435244
更新日期:2012-10-01 00:00:00
abstract::Neuromyelitis optica is a rare, severe idiopathic disease that predominantly involves optic nerves and spinal cord. Main clinical features of neuromyelitis optica are visual loss, paraparesis or tetraparesis, sensory loss, and sphincter dysfunction. A 13-year-old girl with vision loss and behavioral change was admitte...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812448837
更新日期:2013-05-01 00:00:00
abstract::Acute disseminated encephalomyelitis is a monophasic inflammatory demyelinating disease of the central nervous system involving the white matter, and to a lesser extent, the gray matter. Bilateral thalamic lesions have been reported in 12% of pediatric patients with acute disseminated encephalomyelitis. In most cases,...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073808331364
更新日期:2009-08-01 00:00:00
abstract::Mitochondrial cytopathies are a group of heterogeneous disorders characterized by multisystem involvement. Renal involvement in mitochondrial cytopathies is usually manifested as tubular dysfunction owing to impaired energy metabolism; however, a few cases with glomerular changes have also been reported. Herein we rep...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738050200011304
更新日期:2005-01-01 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::Möbius' syndrome is a rare congenital anomaly characterized by paralysis of the 7th and other cranial nerves and musculoskeletal abnormalities. We report a patient with Möbius' syndrome associated with arthrogryposis and mega cisterna magna in addition to the classic components of this syndrome. The case is interestin...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738040190010710
更新日期:2004-01-01 00:00:00
abstract::An infant with a neonatal form of nemaline myopathy showed ultrastructural features of muscle immaturity. Immaturity was characterized by an abnormal presence of myotubes, as well as cells in clusters within a common basement membrane and a great number of satellite cells adhering to very small muscle fibers. In addit...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389000500209
更新日期:1990-04-01 00:00:00
abstract::This article describes the neurologic presentations of children with mitochondrial disorders. The charts of 42 children with highly suspect mitochondrial disorders were reviewed. Thirty-seven children were diagnosed as having definite mitochondrial disorders based on a suggestive clinical presentation and at least one...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380001500110
更新日期:2000-01-01 00:00:00
abstract::Multiple etiologies should be considered in the differential diagnosis of immunocompromised patients with non-central nervous system cancer and viral infections who develop mutism. Acute cerebellitis, caused by infections or by neurotoxicity resulting from chemotherapy; paraneoplastic cerebellar degeneration; atypical...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073817709178
更新日期:2017-08-01 00:00:00
abstract::The 1960s were a period of great flowering in the recognition of neurologic disorders in children. The so-called ataxic cerebral palsies were an especially fertile field waiting for clarification. Congenital ataxia coupled with hyperpnea-apnea, abnormal eye movements, and retardation was identified as an autosomal-rec...
journal_title:Journal of child neurology
pub_type: 历史文章,杂志文章
doi:10.1177/088307389901400903
更新日期:1999-09-01 00:00:00
abstract::We reviewed the data from 215 consecutively imaged children who were referred because of neurologic disease. We specifically looked for evidence of cerebral arterial infarction in the form of focal brain damage in an arterial vascular distribution. Twenty-eight showed an arterial infarction pattern. All the major cere...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307388700200413
更新日期:1987-10-01 00:00:00
abstract::Pediatric headache patients often experience significant sleep disturbance, which may be a risk factor for poor physical, academic, and emotional functioning, including increased anxiety/fear. The current retrospective cohort study of a clinical sample of youth with persistent headache aimed to examine the impact of s...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073819887597
更新日期:2020-03-01 00:00:00
abstract::This study assessed metabolic functioning of regional brain areas to address whether there is a neurometabolic profile reflecting the underlying neuropathology in individuals with autism spectrum disorders, and if varied profiles correlate with the clinical subtypes. Thirteen children (7-16 years) with autism spectrum...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073808315423
更新日期:2008-07-01 00:00:00
abstract::Patients with neurofibromatosis 1 show neurocognitive deficits including abnormal visuospatial performance, but oculomotor behavior has not been studied. We recorded saccades in neurofibromatosis 1 and normal children, ages 6 to 12 years. Patients showed increased latency and diminished amplitude to more eccentric tar...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738030180050301
更新日期:2003-05-01 00:00:00