Abstract:
:In four generations of a family with autosomal dominant hyperekplexia (startle disease), untreated affected adult members had pes cavus and extensor plantar responses, as well as hyper-reflexia. Electroencephalography during a startle, electromyography, nerve conduction velocities and somatosensory evoked potentials were normal. Genetic studies showed linkage to the CSF1R locus on chromosome 5q33-q35, which includes the glycine receptor. This either represents a variant of hyperekplexia with spasticity or suggests that genes for hyperekplexia and a form of hereditary spastic paraparesis may be closely linked.
journal_name
Dev Med Child Neuroljournal_title
Developmental medicine and child neurologyauthors
Baxter P,Connolly S,Curtis A,Spencer V,Ravindranath C,Burn J,Gardner-Medwin Ddoi
10.1111/j.1469-8749.1996.tb12144.xsubject
Has Abstractpub_date
1996-08-01 00:00:00pages
739-43issue
8eissn
0012-1622issn
1469-8749journal_volume
38pub_type
杂志文章abstract::The neurodevelopmental status of 171 very preterm infants whose brains had been scanned prospectively with ultrasound was assessed blind at four years using a wide range of tests, including tests of cognitive function. Highly significant correlations were found between the ultrasound appearance of the brain and outcom...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1988.tb14633.x
更新日期:1988-12-01 00:00:00
abstract::Carpal tunnel syndrome is extremely rare in childhood and in almost all previously reported cases it has been secondary to some underlying condition. Three 13- to 14-year-old girls are described with idiopathic carpal tunnel syndrome, confirmed by EMG and relieved by surgical decompression. A noteworthy feature in chi...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1987.tb08826.x
更新日期:1987-12-01 00:00:00
abstract:AIM:Parental report is often relied on to measure performance of activities in children with cerebral palsy (CP). This study examined whether the Functional Mobility Scale (FMS) accurately reflects performance of mobility in children with CP. METHOD:Eighteen children with spastic CP (11 males, seven females; mean age ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2009.03354.x
更新日期:2010-02-01 00:00:00
abstract:AIM:This systematic review and meta-analysis presents an overview of the efficacy of suit therapy on functioning in children and adolescents with cerebral palsy (CP). METHOD:A systematic review with meta-analysis was conducted. A comprehensive search of peer-reviewed articles was performed on electronic databases, fro...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,meta分析,评审
doi:10.1111/dmcn.12988
更新日期:2016-04-01 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::Individual rhythms of suck, swallow, and respiration are disrupted in preterm infants with bronchopulmonary dysplasia (BPD). Integration of respiration into suck-swallow efforts is critical for establishing coordinated suckle feeding. This study quantitatively assessed the coordination of respiration and swallow in in...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/S0012162206001241
更新日期:2006-07-01 00:00:00
abstract:AIM:There is a large literature reporting risk factor analyses for poor neurodevelopment in children born very preterm (VPT: ≤32wks) or very low birthweight (VLBW: ≤1250g), which to date has not been formally summarized. The aim of this paper was to identify prognostic factors for cerebral palsy (CP) and motor impairme...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/dmcn.12972
更新日期:2016-06-01 00:00:00
abstract::This study was designed to test the hypothesis that non-ambulatory patients with spastic quadriplegia will have reduced bone mass which worsens with increasing age. Forty-eight patients (age 5 to 48 years, median age 15 years; 19 females and 29 males) were studied. Anticonvulsants were used in 29 patients (60.4%). Lum...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:
更新日期:2003-01-01 00:00:00
abstract:AIM:To determine the prevalence of long-term mechanical insufflation-exsufflation (MI-E) and concomitant mechanical ventilation in children with neurological conditions, with reported reasons behind the initiation of treatment. METHOD:This was a population-based, cross-sectional study using Norwegian national registri...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.14797
更新日期:2021-01-03 00:00:00
abstract:AIM:To examine the neurobiology of long-term neuropsychological deficits after neonatal extracorporeal membrane oxygenation (ECMO). METHOD:This cross-sectional study assessed white matter integrity and hippocampal volume of ECMO survivors (8-15y) and healthy children (8-17y) using diffusion tensor imaging (DTI) and st...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.13309
更新日期:2017-03-01 00:00:00
abstract::An infant with subacute necrotising encephalopathy is described, in whom slow motornerve conduction velocities suggested the presence of peripheral neuropathy. Peripheral nerves are not invariably involved in patients with this disease, but as they are involved in thiamine-deficiency states it is conjectured that the ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1975.tb03529.x
更新日期:1975-10-01 00:00:00
abstract:AIM:To conduct a systematic review and meta-analysis of the effects of exercise interventions designed to improve balance in young people with intellectual disabilities. METHOD:A systematic literature search was performed on 10 databases. Studies in press or published in English in a peer-reviewed journal were include...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,meta分析
doi:10.1111/dmcn.14023
更新日期:2019-04-01 00:00:00
abstract:AIM:To investigate the spectrum and relationships between gait patterns and motor function in a population-based cross study of children with unilateral cerebral palsy (CP). METHOD:Children identified with unilateral CP born in Victoria, Australia, from 1990 to 1992 were eligible to participate. Characteristics were r...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2010.03878.x
更新日期:2011-05-01 00:00:00
abstract::Pain frequency and its association with participation, function, and health-related quality of life were evaluated in a sample of 198 children (58% male; mean age 10 years 7 months, SD 3 years 11 months; range 5 to 18 years) with moderate to severe cerebral palsy (CP). Gross Motor Functional Classification System (GMF...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,多中心研究
doi:10.1017/s0012162204000507
更新日期:2004-05-01 00:00:00
abstract::In this study, 10 sagittal lower limb range-of-motion measures were conducted in a blinded fashion in 25 children with spastic diplegic cerebral palsy and in 25 age- and sex-matched controls. The participants comprised 22 males, mean age 10 years 8 months and 28 females, with mean age 9 years 8 months; age range 6 to ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162203000744
更新日期:2003-06-01 00:00:00
abstract::Dynamic electromyography was used to examine the activity of muscles of 26 children with varus hindfoot deformities as a result of spastic cerebral palsy. Four different patterns of inappropriate muscle activity involving the tibialis anterior, tibialis posterior, gastrocnemius and soleus were seen during walking. Dyn...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1984.tb04411.x
更新日期:1984-02-01 00:00:00
abstract::GLUT1 deficiency syndrome (GLUT1DS, OMIM 606777) is a treatable epileptic encephalopathy resulting from impaired glucose transport into the brain. The essential biochemical finding is a low glucose concentration in the cerebrospinal fluid (CSF; hypoglycorrhachia; mean 1.7 [SD 0.3mmol/L]) in the setting of normoglycaem...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/j.1469-8749.2007.00707.x
更新日期:2007-09-01 00:00:00
abstract::Aim To determine the levels of anxiety and depression in young people with spinal cord injuries (SCI) and their associated factors and outcomes. Method Children and adolescents aged 7 to 17 years at interview who had sustained SCI at least 1 year before the study were assessed using the Children's Depression Inventory...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2009.03268.x
更新日期:2009-10-01 00:00:00
abstract::The paper reports the second of two studies designed to evaluate the effectiveness of the Kinaesthetic Training Programme (Laszlo and Bairstow, 1985) for children with movement difficulties. Three groups of 12 children were matched on age, IQ and sex as well as degree of kinaesthetic and motor impairment. One group re...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1996.tb15059.x
更新日期:1996-11-01 00:00:00
abstract::There is increasing interest in the role of autoantibodies in acquired autoimmune central nervous system disorders. N-methyl-D-aspartate receptor (NMDAR) encephalitis is an autoimmune encephalitis defined by the presence of autoantibodies that bind to the NMDAR. Although there is evidence of NMDAR antibody pathogenici...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.12036
更新日期:2013-02-01 00:00:00
abstract::Duchenne muscular dystrophy (DMD) is a progressive pediatric disorder that affects both muscle and brain. Children with DMD have mean IQ scores that are about one standard deviation lower than population means, with lower Verbal IQ than Performance IQ scores. For the present study, verbal skills and verbal memory skil...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2007.00123.x
更新日期:2007-02-01 00:00:00
abstract:AIM:To investigate ataxia rating scales in children for reliability and the effect of age and sex. METHOD:Three independent neuropaediatric observers cross-sectionally scored a set of paediatric ataxia rating scales in a group of 52 healthy children (26 males, 26 females) aged 4 to 16 years (mean age 10y 5mo SD 3y 11m...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.12369
更新日期:2014-06-01 00:00:00
abstract::Dravet syndrome, a severe infantile epilepsy syndrome, is typically resistant to anti-epileptic drugs (AED). Lamotrigine (LTG), an AED that is effective for both focal and generalized seizures, has been reported to aggravate seizures in Dravet syndrome. Therefore, LTG is usually avoided in Dravet syndrome. We describe...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.12593
更新日期:2015-02-01 00:00:00
abstract::A child with lobar holoprosencephaly presented with spastic diplegia and mild mental retardation, compounded by attention deficits and hyperactivity. His facial features were normal, and except for borderline microcephaly, there were no other predictors of holoprosencephaly. This patient represents the mild end of the...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1988.tb14565.x
更新日期:1988-06-01 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:AIM:To assess outcome for children with severe neurological impairment receiving invasive mechanical ventilation for respiratory failure. METHOD:Medical charts for all such children treated in our intensive care unit (ICU) between January 2003 and July 2008 were reviewed. Outcomes were compared with those for children...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2009.03582.x
更新日期:2010-05-01 00:00:00
abstract::The short- and long-term outcome and special problems of 24 children with infantile spasms and tuberous sclerosis (TS) was studied. The diagnosis of TS is frequently missed: white spots on the skin have to be carefully looked for. In the present study, these spots were always found, and calcifications or hypodense are...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1990.tb16926.x
更新日期:1990-03-01 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::Thirty-five schoolchildren who share a common history of early undernutrition and who were reared after recovery by adoptive families (16), in institutional care (eight) or by their biological families (11) were assessed for physical and intellectual outcome. The adopted children had mean normal weight and height for ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1992.tb11492.x
更新日期:1992-07-01 00:00:00
abstract::Twenty-one individuals (19 females, two males) with teenage-onset anorexia nervosa (AN), 19 of whom were weight restored, were assessed using single-photon emission computed tomography (SPECT) 7 years after onset of AN, at a mean age of 22 years. For comparison we recruited a younger group without neuropsychiatric dis...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162201000457
更新日期:2001-04-01 00:00:00