Abstract:
:Progressive calcification of the brain and the spinal cord at early infantile onset was observed in two siblings. They showed growth failure, psychomotor deterioration, deafness, vestibular dysfunction, microcytic hypochromic anemia, abnormal ratios of lymphocyte subpopulations, and slightly decreased bicarbonate on blood gas analysis. Distal renal tubular acidosis was demonstrated in one of them. Carbonic anhydrase II activity was normal. This new hereditary disease might have a defect in a molecule that is present in brain, spinal cord, kidney and hematocytes and is involved in H+/HCO3- production or transport.
journal_name
Dev Med Child Neuroljournal_title
Developmental medicine and child neurologyauthors
Yoshimura M,Hara T,Maegaki Y,Koeda T,Okubo K,Hamasaki N,Sly WS,Takeshita Kdoi
10.1111/j.1469-8749.1997.tb07410.xsubject
Has Abstractpub_date
1997-03-01 00:00:00pages
198-201issue
3eissn
0012-1622issn
1469-8749journal_volume
39pub_type
杂志文章abstract::Total ophthalmoplegia is described in an eight-year-old boy with polyradiculitis. The findings suggest central nervous system involvement. It is postulated that this case represents an entity intermediate between the Miller-Fisher and the Landry-Guillain-Barré syndromes, with features of brain-stem encephalitis. ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1976.tb03659.x
更新日期:1976-06-01 00:00:00
abstract::This study examined whether children with hemiplegic cerebral palsy (CP) have anticipatory control of fingertip forces during lifts of familiar objects, and what type of practice (blocked or random) best enhances the retention of anticipatory control during lifts of novel objects. Eighteen children with hemiplegic CP ...
journal_title:Developmental medicine and child neurology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1017/s0012162203001397
更新日期:2003-11-01 00:00:00
abstract::Minor neurological dysfunctions (MND) have frequently been reported as an outcome of preterm birth. Behavioural and learning difficulties are a known feature, but coordination problems are especially described in preterm infants at later ages. All preterm infants in our study were born with a gestational age of <32 we...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162201002298
更新日期:2002-06-01 00:00:00
abstract::A large New England family with autosomal dominant familial spastic paraplegia (ADFSP) is described. In a pedigree of 173 family members, 71 affected individuals were identified. 16 cases examined by the authors are described with regard to the natural history of ADFSP in this family, and a staging system for followin...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1990.tb08530.x
更新日期:1990-12-01 00:00:00
abstract::The operculum syndrome, not previously documented as a complication of tuberculous meningitis, is described in a three-year-old African boy. The appearance on CT scan correlates radiographically with anatomical descriptions of the operculum syndrome, and is useful in distinguishing the condition from pseudobulbar pals...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1990.tb08105.x
更新日期:1990-10-01 00:00:00
abstract:AIM:To investigate whether infants born late preterm have poorer cognitive outcomes than term-born infants. METHOD:A cohort study based on the Avon Longitudinal Study of Parents and Children. Cognitive measures were assessed between the ages of 8 and 11 years. Exposure groups were defined as moderate/late preterm (32-...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2012.04315.x
更新日期:2012-08-01 00:00:00
abstract::The incidence of anencephalus in the largely rural areas of Oxfordshire and west Berkshire from 1965 to 1972 was ascertained from the files of the Oxford Record Linkage Study as 1-49 per 1000 total births. There was little variation within the area, but there was a marked increase in incidence over the eight years of ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1976.tb04210.x
更新日期:1976-10-01 00:00:00
abstract:AIM:The purpose of this study was to assess the relation of perinatal risk factors with later development of specific language impairment (SLI). METHOD:In a case-control study, 179 children attending special needs schools for SLI were matched with non-affected children attending mainstream schools. Both groups consist...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.12133
更新日期:2013-07-01 00:00:00
abstract::This study compared the results of reflex modification (RM)--an objective technique for assessing brainstem sensorineural processing--with those of auditory brainstem response (ABR) for a group of high-risk infants at comparable postconceptional ages. For the RM procedure, an eyeblink-eliciting tap to the glabella was...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1991.tb05091.x
更新日期:1991-02-01 00:00:00
abstract::Two girls with concomitant Goldenhar syndrome (oculo-auriculovertebral spectrum disorder) and autistic disorder are described. One was diagnosed as having Goldenhar syndrome in the first few weeks of life and as having autistic disorder in her fifth year; the other was diagnosed as having Goldenhar syndrome when she w...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1992.tb11405.x
更新日期:1992-11-01 00:00:00
abstract::A child with Joubert syndrome (episodic hyperpnoea, abnormal eye-movements and ataxia) was followed from birth to eight years of age. Although severe mental retardation was suspected until approximately five years of age, unexpected and exceptional mental capacities were evident at later follow-up. Adequate testing an...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1990.tb16933.x
更新日期:1990-03-01 00:00:00
abstract::One hundred and forty-three healthy children between six months and two years of age were studied to determine the effect of food texture on chewing duration. Texture determined very strongly how long a bite of food was chewed, with solids taking longest, followed by viscous food and purée, respectively. As children g...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1991.tb14786.x
更新日期:1991-01-01 00:00:00
abstract:AIM:To assess the sensitivity and specificity of automated movement recognition in predicting motor impairment in high-risk infants. METHOD:We searched MEDLINE, Embase, PsycINFO, CINAHL, Web of Science, and Scopus databases and identified additional studies from the references of relevant studies. We included studies ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/dmcn.14800
更新日期:2021-01-09 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:AIM:This systematic review investigated the availability of assessment tools to evaluate bimanual skills in young children (< or = 3y) with hemiplegic cerebral palsy. Evidence for validity, reliability, and clinical utility of the identified instruments was sought. METHOD:Ten electronic databases and grey literature w...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/j.1469-8749.2009.03561.x
更新日期:2010-05-01 00:00:00
abstract::This study presents a method to quantify a child's sensitivity to passive limb motion, which is an important aspect of kinaesthesia not easily examined clinically. Psychophysical detection thresholds to passive forearm motion were determined in a group of 20 typically developing pre-adolescent children (mean age 12y 6...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2008.03229.x
更新日期:2009-09-01 00:00:00
abstract::Participation and activity performance (motor and cognitive or behavioural) were examined in 148 children with cerebral palsy (CP; 87 males, 61 females; mean age 9y 8mo, SD 1y 11mo; range 6y 1mo to 13y 7mo), mainstreamed in fully inclusive (n=100) and in self-contained classes (n=48) within general schools in Israel, ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/S0012162205001714
更新日期:2005-12-01 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:AIM:Research funds for cerebral palsy are scarce and competition for them is strong. This study aimed to identify questions for future research that were agreed to be a high priority. METHOD:An expert panel of consumers, researchers, and clinicians was assembled (n=127) and surveyed using a Delphi survey comprising th...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2009.03358.x
更新日期:2010-03-01 00:00:00
abstract::The aim of this study was to compare the characteristics of the first demyelinating event between acute disseminated encephalomyelitis (ADEM) and multiple sclerosis (MS). Children with acute demyelinating disease of the central nervous system and an abnormal brain magnetic resonance image (MRI) were studied. Patients ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2008.03136.x
更新日期:2009-06-01 00:00:00
abstract:AIM:To evaluate construct and predictive validity of the Communication Function Classification System (CFCS) for use with preschool children with a range of speech and language disorders. METHOD:Seventy-seven preschool children with speech and language disorders (50 males, 27 females; mean 2y 7mo, standard deviation [...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.13373
更新日期:2017-05-01 00:00:00
abstract::We describe the development and preliminary psychometric testing of the Daily Activities of Infants Scale (DAIS), a parent-completed measure of opportunities parents provide infants for development of postural control and movement. First we obtained 1300 photographs of typical activities from 17 families with infants ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2008.03007.x
更新日期:2008-08-01 00:00:00
abstract::This study assessed stability of measurement of quality of life (QOL) and health-related quality of life (HRQOL) over the course of 1 year among 185 adolescents (mean age 16y, SD 1 y 9 mo) with cerebral palsy (CP). Participants were classified on the Gross Motor Function Classification System as level I (n=55), II (n=...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2008.03053.x
更新日期:2008-09-01 00:00:00
abstract:AIM:To collect preliminary functional data on ataxia telangiectasia and create a disease specific scale: the Ataxia Telangiectasia Functional Scale (ATFS). METHOD:Retrospective information on patients with ataxia telangiectasia referred to the Assistive Technology Unit was included. Functional mobility scales (the Gro...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.14334
更新日期:2020-02-01 00:00:00
abstract::Cerebral palsy (CP) can occur in term infants with or without preceding newborn encephalopathy. We compared the type and severity of CP and associated disability in these two groups. Participants from a population-based case-control study of term newborn encephalopathy were followed up for 6 years and linked to the We...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162205000575
更新日期:2005-05-01 00:00:00
abstract:AIM:to improve understanding of brain function in children with severe dyslexia in terms of minor neurological dysfunctions (MNDs). METHOD:one hundred and four children (81 males, 23 females; age range 7-12y; mean age 9y 7mo, SD 1y 2mo;) with severe dyslexia (the presence of a Full-scale IQ score of ≥ 85, retardation ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2010.03712.x
更新日期:2010-12-01 00:00:00
abstract::A prospective study was made of levels of lactate and hydroxybutyrate dehydrogenase in the blood and cerebrospinal fluid of 57 term neonates, in relation to the time elapsed since delivery, neonatal examinations (Apgar score, neurological symptoms and EEG findings) and psychomotor outcome at one year of age. Serum det...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1981.tb02445.x
更新日期:1981-04-01 00:00:00
abstract::Recent studies on hand motor control in children with cerebral palsy (CP) have focused on the coordination of fingertip forces during the grasping and lifting of objects. However, little is known about the ability to replace and release an object from grasp, a function that is just as important for fine dexterity. The...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162200000396
更新日期:2000-04-01 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 establish whether deficits in social cognition are present in children with generalized or focal epilepsy in mainstream education, and whether any relation exists between social cognition, communication, and behaviour measures. METHOD:In a cross-sectional study, children with an epilepsy-only diagnoses in mains...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.12613
更新日期:2015-01-01 00:00:00