Abstract:
:Thrombotic and thromboembolic complications are the main causes of morbidity and mortality in patients with homocystinuria. However, it is unusual for thrombosis and infarction to be the presenting feature leading to investigation for homocystinuria and cerebrovascular lesions in the first year of life. We describe a previously healthy 6-month-old infant who presented with a large middle-cerebral-artery territory infarction and died of massive brain swelling. Homocystinuria due to cystathionine beta-synthase (CBS) deficiency was diagnosed by metabolite analysis and confirmed by enzymatic activity measurement in a postmortem liver biopsy. Homocystinuria should be considered in the differential diagnosis of venous or arterial thrombosis, regardless of age, even in the absence of other common features of the disease. We recommend systematic metabolic screening for hyperhomocysteinemia in any child presenting with vascular lesions or premature thromboembolism.
journal_name
Dev Med Child Neuroljournal_title
Developmental medicine and child neurologyauthors
Cardo E,Campistol J,Caritg J,Ruiz S,Vilaseca MA,Kirkham F,Blom HJdoi
10.1017/s0012162299000250subject
Has Abstractpub_date
1999-02-01 00:00:00pages
132-5issue
2eissn
0012-1622issn
1469-8749journal_volume
41pub_type
杂志文章abstract:AIM:The aim of this study was to assess health-related quality of life (HRQOL) following a stationary cycling intervention in children with cerebral palsy (CP). METHOD:This was a phase I multisite randomized controlled trial with single blinding. HRQOL was evaluated using the Pediatric Quality of Life Inventory SF15 (...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1111/j.1469-8749.2012.04321.x
更新日期:2012-07-01 00:00:00
abstract::The sleep states of nine premature infants were observed and concomitant respiration recordings were obtained at 37 and 41 weeks conceptional age. 19 fullterm infants were also studied at 41 weeks conceptional age. Between 37 and 41 weeks significant decreases occurred in the premature infants' percentage of periodic ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1983.tb13762.x
更新日期:1983-06-01 00:00:00
abstract:AIM:Language lateralization with functional transcranial Doppler sonography (fTCD) and lexical word generation has been shown to have high concordance with the Wada test and functional magnetic resonance imaging in adults. We evaluated a nonlexical paradigm to determine language dominance in children. METHOD:In 23 rig...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2009.03362.x
更新日期:2010-04-01 00:00:00
abstract::Five days after birth, 144 clinically normal infants were examined according to Prechtl's 'optimality' method. 118 were classified as neurologically optimal and 26 as sub-optimal. At the ages of 12, 22 and 36 months, parents' reports indicated differences in behaviour between the two groups; and at age 22 months obser...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1980.tb03740.x
更新日期:1980-12-01 00:00:00
abstract::In a population of 850,000, the authors studied afebrile seizures that follow febrile seizures. Review of all paediatric EEGs identified 504 children with epilepsy beginning between 1977 and 1985. Follow-up averaged 85 months. 14.9 per cent had preceding febrile seizures: 13 per cent complex partial, 13 per cent parti...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1994.tb11779.x
更新日期:1994-10-01 00:00:00
abstract:AIM:To identify and critically appraise standardized measures of power mobility skill used with children (18y or younger) with mobility limitations and explore the measures' application for 'exploratory', 'operational', and 'functional' learners. METHOD:Five electronic databases were searched along with hand-searching...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/dmcn.13709
更新日期:2018-10-01 00:00:00
abstract:AIM:To describe gross motor function in children with bilateral lower limb (BLL) spasticity due to human immunodeficiency virus encephalopathy (HIVE), and to investigate the association between age, CD4 percentage, and viral load at initiation of antiretroviral therapy (ART) and current gross motor function. METHOD:Th...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.13377
更新日期:2017-04-01 00:00:00
abstract::Following the observation that many children with kwashiorkor had a deprived look in their eyes, the guardians of 107 children with kwashiorkor and 111 controls were interviewed about their home life, in a survey made at New Mulago Hospital, Kampala, between 1969 and 1972. A child's age, sex and tribe were found to ha...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1979.tb01630.x
更新日期:1979-06-01 00:00:00
abstract::The purpose of the present study was to examine possible differences between high-functioning males and females with autism spectrum disorder (ASD) regarding the core symptoms of autism and coexisting psychopathology. A total of 23 females and 23 males matched for age, IQ, and ASD diagnoses were recruited(mean age 11y...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2007.00361.x
更新日期:2007-05-01 00:00:00
abstract::We assessed the architecture of the medial gastrocnemius in nine children (five males, four females; age range 6 to 15 years; mean 10 years 10 months, SD 3 years 6 months) with spastic diplegia by ultrasound imaging before and after a gastrocnemius recession. The children were ambulant (seven independent, one with a p...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162204001124
更新日期:2004-10-01 00:00:00
abstract::A survey of the population of the Spina Bifida Service (107 patients) of Georgetown University Hospital, Washington, D.C., and of a control population in the same hospital revealed that, although situated in an ethnically heterogeneous area, Service patients with a history of neural-tube defects in siblings or family ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1975.tb03523.x
更新日期:1975-10-01 00:00:00
abstract::Normal selective voluntary motor control (SVMC) can be defined as the ability to perform isolated joint movement without using mass flexor/extensor patterns or undesired movement at other joints, such as mirroring. SVMC is an important determinant of function, yet a valid, reliable assessment tool is lacking. The Sele...
journal_title:Developmental medicine and child neurology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1469-8749.2008.03186.x
更新日期:2009-08-01 00:00:00
abstract::Four boys with the combination of infantile autism and the fragile-X syndrome were given oral folic acid and placebo, according to a double-blind crossover design. One boy's behaviour appeared to improve on folic acid, but another boy did not seem to be affected at all. For the remaining two boys the results were equi...
journal_title:Developmental medicine and child neurology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1469-8749.1986.tb03905.x
更新日期:1986-10-01 00:00:00
abstract:AIM:The aim of this review was to determine the effectiveness of hand splinting for improving hand function in children with cerebral palsy (CP) and brain injury. METHOD:A systematic review with meta-analyses was conducted. Only randomized and quasi-randomized controlled trials in which all participants were children ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,meta分析,评审
doi:10.1111/dmcn.12205
更新日期:2014-02-01 00:00:00
abstract::An 11-year old girl is described who acquired conduction aphasia after head trauma. Detailed study of her repetition defect showed that it was because of impaired short-term verbal memory. CT scan showed two hypodense areas in the left hemisphere, which included the supramarginal gyrus and Wernicke's area. This case i...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1987.tb02514.x
更新日期:1987-08-01 00:00:00
abstract:AIM:Difficult-to-treat epilepsies and attention-deficit-hyperactivity disorder (ADHD) often co-occur. Because of concerns about the use of stimulants in children with this comorbidity, the impact of ADHD treatment on seizure frequency and severity is not known. This pilot study evaluated the safety and efficacy of meth...
journal_title:Developmental medicine and child neurology
pub_type: 临床试验,杂志文章
doi:10.1111/dmcn.12121
更新日期:2013-07-01 00:00:00
abstract::The possibility that so-called anti-epileptic drugs (AEDs) may aggravate epilepsy must always be borne in mind by the clinician. Many reports of such aggravation of seizures have been published. Most such reports are anecdotal and speculative, and suggest that many such reactions are idiosyncratic. However, for some t...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1017/S0012162206000843
更新日期:2006-05-01 00:00:00
abstract::Endogenous opioid dysfunction hypotheses for the development of autism are reviewed, along with clinical empirical studies of opiate antagonists in autism and self-injurious behaviour. There is not yet sufficient evidence to suggest the use of opiate antagonists in the treatment of autism. Further research, particular...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1995.tb11998.x
更新日期:1995-03-01 00:00:00
abstract::The study aim was to quantify melatonin-associated improvement in sleep by means of a parent-completed sleep diary during routine outpatient activity. An investigation into sleep disturbance was made at neurology outpatient appointments. Those parents who identified a problem were asked to complete a sleep diary, afte...
journal_title:Developmental medicine and child neurology
pub_type: 临床试验,杂志文章
doi:10.1017/s0012162201002171
更新日期:2002-05-01 00:00:00
abstract::Alterations in regional cerebral blood-flow, as determined by single-photon emission computed tomography (SPECT) using technetium [99mTc] hexamethyl propylenamine oxime, were studied in two children presenting with alternating hemiplegia of childhood. Both experienced hemiplegic episodes several times per month, despi...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1993.tb11647.x
更新日期:1993-04-01 00:00:00
abstract::An unusual presentation of biotinidase deficiency is described. The disorder classically presents in infancy or early childhood with intractable seizures, hypotonia, ataxia, hearing loss, dermatitis, and alopecia. A 5-year-old girl developed acute visual loss associated with optic atrophy, and disturbance of gait with...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1997.tb07552.x
更新日期:1997-12-01 00:00:00
abstract:AIM:The aim of this study was to conduct a systematic review in order to identify the risk factors for cerebral palsy (CP) in children born at term. The secondary aim was to ascertain if the potential for prevention of these risk factors has been adequately explored. METHOD:A MEDLINE search up to 31 July 2011 was comp...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,meta分析,评审
doi:10.1111/dmcn.12017
更新日期:2013-06-01 00:00:00
abstract::Gliomatosis cerebri is the unifying term used when diffuse glial infiltration occurs throughout the cerebral hemispheres. The very few cases reported in children have presented with intractable epilepsy, corticospinal tract deficits, unilateral tremor, headaches, and developmental delay. Antemortem diagnosis is diffic...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162201000214
更新日期:2001-02-01 00:00:00
abstract::The purpose of this study was to investigate the relationship between aspiration, as identified by videofluoroscopic swallowing (VFS) study, and pneumonia in children with suspected dysphagia. Data were retrospectively collected and analysed from 142 children referred for VFS over a one-year period. The median age was...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1994.tb11879.x
更新日期:1994-06-01 00:00:00
abstract::Familial dysautonomia (FD), an autosomal recessive peripheral nervous system disorder, affects almost exclusively children of Jewish Ashkenazi origin and causes profound generalized autonomic dysfunction. Excessive drooling is frequent and is traditionally attributed to swallowing difficulties. Although true hypersali...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1996.tb12084.x
更新日期:1996-02-01 00:00:00
abstract:AIM:Advances in perinatal care and neuroimaging techniques have increased the detection of cerebellar malformations (CBMs) in the fetus and young infant. As a result, this has necessitated a greater understanding of the neurodevelopmental consequences of CBMs on child development. The aim of this study was to delineate...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2011.03929.x
更新日期:2011-05-01 00:00:00
abstract::The objective of this study was to estimate the prevalence of autistic spectrum disorder (ASD) and identify its clinical characterization, and medical conditions in a paediatric population in Portugal. A school survey was conducted in elementary schools, targeting 332,808 school-aged children in the mainland and 10,91...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2007.00726.x
更新日期:2007-10-01 00:00:00
abstract:AIM:To conduct a systematic literature review on patients with biphasic disease with herpes simplex virus (HSV) encephalitis followed by anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis. METHOD:We conducted a case report and systematic literature review (up to 10 December 2016), focused on differences between h...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/dmcn.13448
更新日期:2017-08-01 00:00:00
abstract::Children with mild developmental delay without dysmorphic features do not often have identifiable underlying aetiological factors. We report on a 5-year-old girl with mild developmental delay and dysmorphic features which were previously unrecognized. She was found to have supernumerary ring chromosome 19 mosaicism wh...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162299000092
更新日期:1999-01-01 00:00:00
abstract::Neurological integrity in sick children is difficult to assess clinically. The aim of this study was to determine the predictive value of EEG activity recorded with a bedside EEG analysing monitor in an intensive care unit. EEG activity was monitored in 108 children (age range 2 weeks to 16 years, median 1.7 years) co...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162201000159
更新日期:2001-02-01 00:00:00