Abstract:
:To further delineate the clinical and developmental features of Angelman syndrome, we collected data through three sources of information: (1) physical examinations; (2) laboratory data and family questionnaire data of affected individuals; and (3) literature review. The questionnaire data describes a generally normal prenatal and birth history. Feeding difficulties, developmental delay, or seizures were the presenting problems in all infants. The diagnosis of Angelman syndrome, however, was not made in any infant prior to 1 year of age. Except for seizures, no medical or surgical complication was common, although a variety of visual complaints or findings were common. Sixty percent of Angelman syndrome children had a cytogenetically demonstrated deletion of chromosome 15q11-q13. The individuals with and without a deletion could not be differentiated clinically. Diagnosis in early childhood is therefore difficult, and a high index of suspicion is recommended.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Zori RT,Hendrickson J,Woolven S,Whidden EM,Gray B,Williams CAdoi
10.1177/088307389200700307subject
Has Abstractpub_date
1992-07-01 00:00:00pages
270-80issue
3eissn
0883-0738issn
1708-8283journal_volume
7pub_type
杂志文章,评审abstract::Diamond-Blackfan anemia is a congenital hypoproliferative anemia known to be associated with diverse physical anomalies affecting the thumb, craniofacial bones, urogenital system, and heart; prematurity; and fetal demise. We report the case of a 16-month-old boy with Diamond-Blackfan anemia noted to have decreased use...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738030180111301
更新日期:2003-11-01 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::Ischemic strokes in children and young adults are fortunately rare. Contrasted with adult ischemic strokes, pediatric stroke etiologies vary greatly and are often unknown. Childhood lacunar strokes and trauma-induced strokes represent particularly uncommon subsets and have been reported infrequently in the literature....
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073813500850
更新日期:2014-09-01 00:00:00
abstract::Despite the recent development of new antiepilepsy drugs, a significant number of children are still unable to achieve seizure freedom without side effects. Understanding the factors behind individual variability in antiepilepsy drug tolerability and dose response and incorporating these factors into a treatment plan ...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/08830738020170011301
更新日期:2002-01-01 00:00:00
abstract::The geographic distribution of multiple sclerosis (MS) may relate to the age of initial exposure and degree of sensitization to common viruses or bacteria which have proteins with epitopes (antigenic determinants) which are homologous with potentially encephalitogenic peptides in central myelin proteins, such as basic...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307388700200418
更新日期:1987-10-01 00:00:00
abstract::Neuronal ceroid lipofuscinosis is a hereditary disease, and ceroid-lipofuscinosis neuronal protein 5 (CLN5) has been proved to be associated with neuronal ceroid lipofuscinosis. Here we report 3 patients from 2 families diagnosed with CLN5 neuronal ceroid lipofuscinosis. Whole genome sequencing of DNAs from 3 patients...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073818789024
更新日期:2018-11-01 00:00:00
abstract::Idiopathic dystonia with onset in the first year of life has been described as a transient movement disorder, in contrast to other forms of idiopathic dystonia We report on a girl who showed, from her 5th month, episodes of dystonic postures of her neck and arm, which lasted for seconds and occurred several times a da...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380001501212
更新日期:2000-12-01 00:00:00
abstract::Despite being a treatable and preventable zoonosis, brucellosis is still endemic in certain areas of the world. Nervous system involvement is a rare but an important complication of brucellosis in childhood. Neurobrucellosis should be taken into consideration in the differential diagnosis of any kind of neurological s...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073811402205
更新日期:2011-10-01 00:00:00
abstract::Lamotrigine is a new antiepileptic drug that may possess unique cognitive and behavioral characteristics. Although lamotrigine can produce neurobehavioral toxicity, it is generally well tolerated. In one study directly comparing lamotrigine to placebo as add-on therapy in patients with intractable epilepsy, no objecti...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073897012001101
更新日期:1997-11-01 00:00:00
abstract::At present, both migraine and tension-type headaches in children are believed to be chronic primary headaches. Meningeal signs in both cases are ignored or not examined, and the neurologic status is considered normal. This is the first study that focuses on meningeal signs in children with chronic headaches. The study...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738060210050601
更新日期:2006-05-01 00:00:00
abstract::The infantile form of neuronal ceroid lipofuscinosis (ie, infantile Batten disease) is the most rapidly progressing type and is caused by an inherited deficiency in the lysosomal enzyme palmitoyl protein thioesterase 1. The absence of enzyme activity leads to progressive accumulation of autofluorescent material in man...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073813495960
更新日期:2013-09-01 00:00:00
abstract::This is the first study to evaluate the efficacy of riboflavin for migraine prophylaxis in children. This was a randomized, double-blind study of riboflavin (200 mg daily) versus placebo in 48 children. The primary efficacy measure was the number of patients achieving a 50% or greater reduction in the number of migrai...
journal_title:Journal of child neurology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1177/0883073808318053
更新日期:2008-11-01 00:00:00
abstract::The standard physical examination evaluation for a proprioception abnormality depends upon the patient's ability to follow directions and respond to the examiner, a skill not yet developed in toddlers. This study demonstrates a new proprioception examination method that may allow for better localization of lesions and...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073818812348
更新日期:2019-03-01 00:00:00
abstract::Two pharmacoeconomic studies on the treatment of acute seizures have been conducted. In 1991, Kriel and colleagues surveyed parents of children with a history of cluster seizures, prolonged seizures, or status epilepticus who had been instructed in the use of rectal diazepam. A comparison of data before instruction wi...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073898013001081
更新日期:1998-10-01 00:00:00
abstract::The purpose of this study was to determine which clinical characteristics correlated with abnormal computed tomographic (CT) scans in epileptic children. Thirty variables were examined. Of these, four variables (presence of inherited or congenital disease, focal motor findings, developmental delay, and early onset of ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307388600100210
更新日期:1986-04-01 00:00:00
abstract::The objective of this study was to determine the role of cerebral nitric oxide and its powerful oxidant peroxynitrite following mild birth asphyxia. The cerebrospinal fluid levels of nitric oxide and 3-nitrotyrosine as a marker for peroxynitrite are measured in neonates with mild hypoxic-ischemic encephalopathy. Based...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738020170111101
更新日期:2002-11-01 00:00:00
abstract::Facioscapulohumeral muscular dystrophy is one of the most prevalent muscular dystrophies in the world, resulting from the deletion of tandem repeats on chromosome 4q35. Extramuscular associations include sensorineural hearing loss, mental retardation, and epilepsy. These manifestations are commonly found in those with...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.2310/7010.2006.00054
更新日期:2006-03-01 00:00:00
abstract::We retrospectively analyzed the medical documentation of 194 children infected with Epstein-Barr virus. The diagnosis was based on clinical symptoms and the presence of the viral capsid antigen IgM antibody. Patients with severe neurologic complications also underwent neurologic examination, magnetic resonance imaging...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073815613563
更新日期:2016-05-01 00:00:00
abstract::Seven children between 2 and 15 years of age with cerebral palsy and upper extremity dystonia were enrolled in an open-label, dose-escalation pilot clinical trial of botulinum toxin type B (Myobloc), injected into the biceps and brachioradialis muscles of I or both arms. The primary outcome measure was the change in m...
journal_title:Journal of child neurology
pub_type: 临床试验,杂志文章
doi:10.1177/0883073807299975
更新日期:2007-01-01 00:00:00
abstract::To determine the plasma baclofen concentrations of children undergoing continuous intrathecal baclofen infusion for treatment of cerebral spasticity, we assayed plasma samples from six children, 8 to 18 years of age, who were receiving intrathecal baclofen at constant rates of 77 to 400 micrograms/day. Plasma levels w...
journal_title:Journal of child neurology
pub_type: 临床试验,杂志文章
doi:10.1177/088307389901400611
更新日期:1999-06-01 00:00:00
abstract::Mercury poisoning is a rare but fatal toxicologic emergency. Neurologic manifestations involving the central nervous system are seen usually with chronic mercury intoxication. The most commonly seen complaints are headache, tremor, impaired cognitive skills, weakness, muscle atrophy, and paresthesia. Here, we present ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073814538503
更新日期:2015-05-01 00:00:00
abstract::Ethical problems related to intensive care of extremely preterm newborns of < or = 25 weeks' gestational age and at risk of disability have been extensively debated. The Bioethical Committee of the Department of Paediatrics of the University Hospital of Padua organized and started a multidisciplinary group to release ...
journal_title:Journal of child neurology
pub_type: 指南,杂志文章,实务指引
doi:10.1177/088307380401900106011
更新日期:2004-01-01 00:00:00
abstract::The objective of this article is to review primary and secondary causes of carnitine deficiency, emphasizing recent advances in our knowledge of fatty acid oxidation. It is now understood that the cellular metabolism of fatty acids requires the cytosolic carnitine cycle and the mitochondrial beta-oxidation cycle. Carn...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:
更新日期:1995-11-01 00:00:00
abstract::To find out why children born extremely preterm are at heightened risk of executive dysfunctions, the authors assessed 716 children who were 10 years old born extremely preterm whose IQ was ≥ 70. A working memory dysfunction (n = 169), an inhibition dysfunction (n = 360), a switching dysfunction (355), and all 3 (exec...
journal_title:Journal of child neurology
pub_type: 杂志文章,多中心研究
doi:10.1177/0883073817750499
更新日期:2018-03-01 00:00:00
abstract::Clinical manifestations were retrospectively assessed in 5 families with tuberous sclerosis complex, including 1 pair of monozygotic twins. Interfamilial variation in tuber count was significantly larger than intrafamilial variation. Severity of epilepsy and cognitive profiles varied both between and within families, ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807307093
更新日期:2007-12-01 00:00:00
abstract::Morvan syndrome is a rare autoimmune disease named after the French physician Augustin Marie Morvan. It is characterized by multiple, irregular contractions of the long muscles, weakness, pruritus, hyperhidrosis, insomnia, and delirium. Here, we describe a 17-year-old young man, previously diagnosed with B-cell lympho...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073809356108
更新日期:2010-08-01 00:00:00
abstract::The failure to diagnose an ependymoma at an appropriately early age led to an incomplete excision and a tumor burden too great for radiotherapy to control. The development of normative curves for brain weight correlated with head circumference allowed for the estimates of the extremes of possible growth rates of the t...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307388600100311
更新日期:1986-07-01 00:00:00
abstract::Adolescence is an important period, marked by significant changes in biological and psychosocial domains. Epilepsy is a chronic neurologic disorder associated with social stigma and prejudice. The etiology of depression in epilepsy appears to be a complex interplay between psychosocial and neurobiologic factors. This ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073820954060
更新日期:2021-02-01 00:00:00
abstract::A review of the selective posterior rhizotomy procedure for reduction of spasticity in cerebral palsy is presented. The history of the procedure, selection of patients, operative technique, and results are described. The neurophysiologic basis for spasticity is considered, as well as the role of spasticity in the comp...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/088307389000500303
更新日期:1990-07-01 00:00:00
abstract::Childhood disintegrative disorder, a rare, relentlessly progressive neurologic disorder, first described by Heller in 1908, remains a condition of great interest. It has long been debated whether it is a discrete disorder or simply a late-onset variant of childhood autism. We have studied 6 cases of childhood disinteg...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812472391
更新日期:2013-12-01 00:00:00