Abstract:
:Two new cases are reported of a rare syndrome of malformation consisting of occiptal encephalocele, aplasia of the vermis and deformity of the tectum. Less consistent components are aplasia of mammillary bodies, fusion of thalami, anomalies of cerebral gyral patterns, bifid atlas or bifid occipital squame, elevation of torcular, and cervical hydromyelia. One of the present cases had survived to the age of eight years with a ventricular shunt. This syndrome, of which five cases are known, is thought to be a tandem malformation in which either an occipital dysraphia or an encephalocele induces aplasia of the vermis. A classification of aplasias of the cerebellar vermis is proposed.
journal_name
Dev Med Child Neuroljournal_title
Developmental medicine and child neurologyauthors
Friede RLdoi
10.1111/j.1469-8749.1978.tb15308.xsubject
Has Abstractpub_date
1978-12-01 00:00:00pages
764-72issue
6eissn
0012-1622issn
1469-8749journal_volume
20pub_type
杂志文章abstract::A cohort of children with deficits in attention, motor control and perception at seven years, drawn from a total population sample of such children in Göteborg, Sweden, was compared at 13 years with a group of normal children with regard to behaviour and school achievement. The index group showed persisting high rates...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1989.tb08406.x
更新日期:1989-02-01 00:00:00
abstract::The effect of spastic cerebral palsy on in vivo gastrocnemius muscle fascicle length is not clear. Similarity of fascicle lengths in children with diplegia and typically developing children, but shortening of fascicle lengths in the paretic legs of children with hemiplegia compared with the non-paretic legs, are both ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2007.02008.x
更新日期:2008-01-01 00:00:00
abstract::Cutaneous reflex responses in the human jaw-closing system to low-threshold, mechanical stimulation were investigated in 30 four- to six-year-old children with normal speech and in seven children with disordered speech. Responses of these children were smaller and less frequently observed than those of a seven- to eig...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1992.tb11518.x
更新日期:1992-09-01 00:00:00
abstract::Converging evidence indicates that motor deficits in cerebral palsy (CP) are related not only to problems with execution, but also to impaired motor planning. Current rehabilitation mainly focuses on alleviating compromised motor execution. Motor imagery is a promising method of training the more 'cognitive' aspects o...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/j.1469-8749.2009.03371.x
更新日期:2009-09-01 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::We describe four children with dysmorphic syndrome with severe learning disability (SLD). Their chromosomes had been normal on conventional cytogenetic examination. However, screening using a multiprobe fluorescence in situ hybridisation (FISH) technique for subtelomeric abnormalities revealed a deletion of the p arm ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162200000347
更新日期:2000-03-01 00:00:00
abstract::The efficacy of repeated botulinum toxin A (BTX-A) injections in two and three dose regimes, together with occupational therapy, on upper limb movement and function, was studied using an evaluator blinded, randomized, controlled two-group trial. Forty-two children (31 males, 11 females; range 2-8 y, mean 4 y [SD 1 y 7...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,随机对照试验
doi:10.1111/j.1469-8749.2007.00823.x
更新日期:2007-11-01 00:00:00
abstract::This study retrospectively evaluated the safety and efficacy of selective dorsal rhizotomy (SDR) in participants who underwent a rigorous selection process, uniform surgical procedure, and a standardized postoperative rehabilitation process. Outcome measures assessed were the Ashworth scale for spasticity, the Gillett...
journal_title:Developmental medicine and child neurology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1469-8749.2008.03031.x
更新日期:2008-10-01 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:AIM:gastrostomy feeding children with spastic quadriplegic cerebral palsy (SQCP) improves weight gain but may cause excess deposition of body fat. This study was designed to investigate whether weight gain could be achieved without an adverse effect on body composition by using a low-energy feed in gastrostomy-fed chil...
journal_title:Developmental medicine and child neurology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1469-8749.2010.03789.x
更新日期:2010-12-01 00:00:00
abstract::The aim of this study was to evaluate cognitive development at the onset of West syndrome (WS) with regard to electroencephalogram (EEG) patterns and visual function. Twenty-five patients (14 males, 11 females) at the onset of spasms (T0) in WS and 2 months later (T1) underwent a full clinical evaluation, including ne...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/S0012162205001593
更新日期:2005-11-01 00:00:00
abstract::Mitofusin 2, a large transmembrane GTPase located in the outer mitochondrial membrane, promotes membrane fusion and is involved in the maintenance of the morphology of axonal mitochondria. Mutations of the gene encoding mitofusin 2 (MFN2) have recently been identified as the cause of approximately one-third of dominan...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/j.1469-8749.2010.03613.x
更新日期:2010-04-01 00:00:00
abstract::The aim of this study was to describe and analyze gross and fine motor function and accompanying neurological impairments in children with cerebral palsy (CP) born between 1991 and 1998 in western Sweden. A population-based study comprised 411 children with a diagnosis of CP ascertained at 4 to 8 years of age. Gross M...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/S0012162206000922
更新日期:2006-06-01 00:00:00
abstract::Intracranial calcification (ICC) is a common finding on neuroimaging in paediatric neurology practice. In approximately half of all cases the calcification occurs in damaged, neoplastic, or malformed brain. For the large number of other disorders in which ICC occurs, no common pathogenetic mechanism can be suggested. ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/dmcn.12359
更新日期:2014-07-01 00:00:00
abstract::Bethanechol is a direct agonist of the acetylcholine receptor that was recently introduced in the therapy of gastro-oesophageal reflux. Acute dystonic reactions to bethanechol were observed in a 10-month-old infant who also demonstrated similar dystonic reactions to dopamine receptor blocking agents of two different c...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1986.tb03909.x
更新日期:1986-10-01 00:00:00
abstract::The purpose of this study was to determine trends in the changes of the popliteal angle in 130 normal infants between one day and 12 months of age, for use in assessing infants with possible neuromuscular pathology. Using a 360 degree goniometer, the popliteal angle was measured with the hip held at 90 degree flexion,...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1984.tb08171.x
更新日期:1984-12-01 00:00:00
abstract::Preterm infants are at high risk for developmental impairments at school age. However, the impact of these impairments on important life skills, such as handwriting, is unknown. Forty-eight first-grade children (27 males, 21 females; mean age 6y 7mo, SD 3.9mo; range 6y 1mo to 7y 3mo) born preterm (birthweight < 1250g;...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162205000307
更新日期:2005-03-01 00:00:00
abstract:AIM:To investigate the underlying factor structure of the 46-item Flemish cerebral visual impairment (CVI) questionnaire, differentiate the factor scores of children with and without CVI, and examine the impact of comorbidities on factor scores. METHOD:The records of 630 children (386 males, 244 females; median age 77...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.14448
更新日期:2020-08-01 00:00:00
abstract::Somatosensory evoked potentials (SSEPs) are a very sensitive measure of the functional integrity of the neuroaxis, including peripheral and central structures. When used in diagnostic mode they can provide additional information regarding the probable areas of dysfunction. SSEPs were recorded from 44 children (64 feet...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162200001006
更新日期:2000-08-01 00:00:00
abstract::Of 115 children with dyskinetic cerebral palsy (CP) in the Mersey region, 17 were born at term and at an appropriate weight for age, and have preserved cognitive abilities. 10 of these are likely to have sustained intrapartum asphyxial brain-damage as the cause of their CP. In such circumstances, a characteristic patt...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1994.tb11848.x
更新日期:1994-04-01 00:00:00
abstract::The developing brain in utero and during the first years of life is highly vulnerable to environmental influences. Experiences occurring during this period permanently modify brain structure and function through epigenetic modifications (alterations of the DNA structure and chromatin function) and consequently affect ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/dmcn.14182
更新日期:2019-10-01 00:00:00
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:AIM:We evaluated the level of evidence of speech, language, and communication interventions for infants at high-risk for, or with a diagnosis of, cerebral palsy (CP) from 0 to 2 years old. METHOD:We performed a systematic review of relevant terms. Articles were evaluated based on the level of methodological quality an...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/dmcn.13342
更新日期:2017-04-01 00:00:00
abstract:AIM:To determine factors associated with acquisition of a sitting position in patients with spinal muscular atrophy type 1 (SMA1) treated with nusinersen. METHOD:Using data from the registry of patients with SMA1 treated with nusinersen, we compared the subgroups of sitters and non-sitters after 14 months of therapy a...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.14412
更新日期:2020-03-01 00:00:00
abstract::This paper reports the results of verbal and haptic intelligence tests for the whole population of the visually impaired, braille-educated Dutch children and Dutch-speaking children in Belgium. The scores of children with and without usable vision generally confirmed expectations. Children with usable vision had highe...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1993.tb11678.x
更新日期:1993-06-01 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: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::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::This literature review addressed four questions. (1) In which populations other than cerebral palsy (CP) has the Gross Motor Function Classification System (GMFCS) been applied? (2) In what types of study, and why was it used? (3) How was it modified to facilitate these applications? (4) What justifications and eviden...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/dmcn.13602
更新日期:2018-02-01 00:00:00
abstract::Thirteen embryos with various central nervous system (cns) defects were examined macroscopically and by serial sectioning, and were compared with seven control embryos. All had been aborted spontaneously. Examples of anencephaly, anencephaly with spina bifida, spina bifida alone, encephalocele, iniencephaly and cyclop...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1979.tb01624.x
更新日期:1979-06-01 00:00:00