Abstract:
:The clinical phenotype in Lesch-Nyhan disease has been analyzed in 19 patients studied in hospital. In each case the diagnosis was made on the basis of inactivity of the enzyme hypoxanthine guanine phosphoribosyltransferase in erythrocyte lysates. All had hyperuricemia, and the presence of 'orange sand' in the diaper was a prominent early complaint. All had self-mutilative behavior, of which the most characteristic form was biting the fingers or lips. All had the neurological syndrome of spasticity and choreoathetoid involuntary movements. All but one had less-than-normal intelligence.
journal_name
Dev Med Child Neuroljournal_title
Developmental medicine and child neurologyauthors
Christie R,Bay C,Kaufman IA,Bakay B,Borden M,Nyhan WLdoi
10.1111/j.1469-8749.1982.tb13621.xsubject
Has Abstractpub_date
1982-06-01 00:00:00pages
293-306issue
3eissn
0012-1622issn
1469-8749journal_volume
24pub_type
杂志文章abstract::Periventricular nodular heterotopia (PNH) is a rare neuronal migration disorder in which immature neurons fail to undergo a directed migration from the ventricular and subventricular zones to the cerebral cortex. Classic PNH occurs predominantly in females and is associated with periods of epilepsy and near-normal int...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2007.00219.x
更新日期:2007-03-01 00:00:00
abstract::Blood and saliva were collected from 48 children, aged three to 17 years, before a morning dose of carbamazepine and then at three, six and eight hours afterward. There was no significant difference in the ratio of 10-11 epoxy-carbamazepine to total carbamazepine for children on carbamazepine alone (0.18) and those on...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1986.tb03922.x
更新日期:1986-12-01 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:To evaluate the prevalence of organ system disorders and describe healthcare utilization among adults with spina bifida at a regional clinic. METHOD:This study was a structured chart review using the Rochester Health Status Survey-IV. 65 males, 57 females aged 16 to 59 years were seen at the Spina Bifida Center of...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.12952
更新日期:2016-07-01 00:00:00
abstract:AIM:The aim of this study was to assess the rate of fracture before and after a 1-year course of intravenous pamidronate in children with spastic quadriplegic cerebral palsy (CP) who had previously experienced fractures. METHOD:Twenty-five children (nine males, 16 females) with quadriplegic CP in Gross Motor Function ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2010.03676.x
更新日期:2010-09-01 00:00:00
abstract::This study examined the effect of low birthweight on school achievement and the mediating roles of cognitive and behavioural factors. The sample (115 females, 100 males) was selected from a longitudinal study of first-born singleton children, born between 1986 and 1988 of German-speaking parents, recruited from eight ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162203000860
更新日期:2003-07-01 00:00:00
abstract::Two newborn infants who suffered severe intra-uterine anoxia a few weeks before birth are described. Both died shortly after being born spontaneously and slightly prematurely. In one case the mother had attempted suicide by inhaling butane. The infant's kidneys were hypoplastic and resembled those seen in renal dyspla...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1982.tb13658.x
更新日期:1982-08-01 00:00:00
abstract::Differentiating a sudden-onset concomitant squint from a paralytic squint in an ill child can be difficult, but the distinction is important in view of the neurological implications of the latter. Furthermore, the two types may co-exist, and four such cases are described. The causes of sudden-onset squint are discusse...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1987.tb02137.x
更新日期:1987-04-01 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::The extent to which children with either specific language impairment (SLI) or developmental coordination disorder (DCD) could be considered dyspraxic was examined using three tasks involving either familiar, or unfamiliar actions. SLI is diagnosed in children who fail to develop language in the normal fashion for no ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1998.tb08214.x
更新日期:1998-06-01 00:00:00
abstract:AIM:In children with Friedreich ataxia (FRDA), ataxia is assessed using the surrogate marker the International Cooperative Ataxia Rating Scale (ICARS). We aimed to determine whether ICARS scores in children with FRDA are confounded by muscle weakness. METHOD:In 12 children with FRDA (10 males, two females; mean age 13...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2011.03931.x
更新日期:2011-06-01 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::Nineteen sightless children and adolescents aged between 11 and 18 years were tested for physical condition and performance. Their residential school provided four adapted physical education lessons a week, lasting for 45 minutes. Their physical condition and performance was found to be comparable with that of normal ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1985.tb03801.x
更新日期:1985-12-01 00:00:00
abstract::Sensory and motor function were evaluated in 84 children and adolescents with epilepsy but not additional neuroimpairments such as mental retardation or cerebral palsy. The influence of sex, age, age at onset of epilepsy, duration, seizure type and frequency and medication was analysed. The Bruininks-Oseretsky Test of...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1997.tb07387.x
更新日期:1997-02-01 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 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: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::Quantitative analyses of cross-sectional areas of the thalami, caudate nuclei, and lentiform nuclei were performed in 29 preterm infants (16 males, 13 females; mean age 29.6 weeks, age range 27 to 24 weeks,) with periventricular leukomalacia (PVL). MRI was carried out in the infants between 9 and 18 months of correcte...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162201000883
更新日期:2001-07-01 00:00:00
abstract::Finger function tasks designed to elicit soft neurological signs or to measure sensory-motor integration were administered to 100 first-, 100 second- and 100 third-grade children as part of a multivariate study of normal writing acquisition in an unreferred sample. The finger-succession task--a measure of motor planni...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1992.tb14993.x
更新日期:1992-03-01 00:00:00
abstract::Physical activity has significant health benefits and is positively associated with health-related quality of life and psychosocial functioning. Persons with disability are at particular risk of inactivity. For adults with cerebral palsy (CP), impaired health and function typically impede participation in physical act...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/j.1469-8749.2009.03433.x
更新日期:2009-10-01 00:00:00
abstract:AIM:To evaluate studies on the psychometric properties of measurement tools used to quantify functional mobility in children with hereditary spastic paraplegia (HSP) and other childhood neurological conditions. METHOD:Two independent reviewers identified measures previously used by clinicians to quantify functional mo...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/j.1469-8749.2012.04284.x
更新日期:2012-07-01 00:00:00
abstract:AIM:Osteoporosis is a significant clinical problem in persons with moderate to severe cerebral palsy (CP), causing fractures with minimal trauma. Over the past decade, most studies examining osteoporosis and CP have been cross-sectional in nature, focused exclusively on children and adolescents and only involving one e...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.12790
更新日期:2015-11-01 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
abstract::Parental report may provide an inexpensive alternative to standardized assessments of children's development. We have adapted and validated a parental questionnaire on cognitive development for use with very preterm infants. Sixty-four 2-year-olds (28 males, 36 females) born less than 30 weeks' gestation (median 28.5 ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162204000635
更新日期:2004-06-01 00:00:00
abstract::Guanidinoacetate methyltransferase (GAMT) deficiency is a disorder of creatine biosynthesis, characterized by early-onset learning disability and epilepsy in most affected children. Severe expressive language delay is a constant feature even in the mildest clinical phenotypes.We report the clinical, biochemical, imagi...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2008.03227.x
更新日期:2009-05-01 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::Fifty normal kindergarten and 50 first-grade children were examined three times at six-month intervals for synkineses to stress gaits and mirror movements to finger lifting, finger spreading, and timed motor maneuvers. Motor signs in the age-sensitive range showed substantial individual differences between children of...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1983.tb13786.x
更新日期:1983-08-01 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:To review existing guidelines for universal newborn hearing screening (UNHS), identify those that provide comprehensive and clear recommendations on the subject, and provide a brief overview. METHOD:A scoping literature review was performed in PubMed, the Guidelines International Network library, and national guid...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/dmcn.14694
更新日期:2021-01-01 00:00:00
abstract:AIM:To describe the long-term outcomes of children by the time they reached school age with vein of Galen aneurysmal malformation (VGAM). METHOD:This was a retrospective observational study on a consecutive cohort of patients with VGAM. We included patients with at least one Francophone parent, aged between 6 and 11 y...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.14392
更新日期:2020-06-01 00:00:00