Abstract:
:We report two male Taiwanese siblings in whom the T-->C point mutation at nucleotide 9176 of the mitochondrial ATPase 6 gene (m.9176T>C mutation) was associated with early onset hypotonia, lactic acidosis, and death due to respiratory arrest at 7 and 10 months old. Brain MRI showed lesions over diffuse white matter and the bilateral posterior limbs of the internal capsule. The m.9176T>C mutation is suggested as the cause of the bilateral striatal necrosis and Leigh syndrome. However, leukodystrophy in Leigh syndrome associated with m.9176T>C mutation has never been reported before. We suggest that m.9176T>C mutation could be a new aetiology for leukodystrophy in children with Leigh syndrome.
journal_name
Dev Med Child Neuroljournal_title
Developmental medicine and child neurologyauthors
Hung PC,Wang HSdoi
10.1017/s0012162207000163.xsubject
Has Abstractpub_date
2007-01-01 00:00:00pages
65-7issue
1eissn
0012-1622issn
1469-8749pii
DMCN0163ajournal_volume
49pub_type
杂志文章abstract::Epilepsy may contribute to memory deficits in children, but these deficits are generally mild. We describe the neuropsychological profile of a female who had prolonged status epilepticus at 5 years of age, and then developed temporal lobe epilepsy. Brain magnetic resonance imaging 1 month after the onset of status epi...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/S0012162206000478
更新日期:2006-03-01 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::This study surveyed 237 schoolchildren in a lead-polluted industrial area in northern Italy to assess the relationship between various biological indicators (lead in blood, hair and teeth, and delta-aminolevulinic dehydratase [ALA-D] activity) and some neuropsychological functions, assessed by a battery of five psycho...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1989.tb03977.x
更新日期:1989-04-01 00:00:00
abstract:AIM:To ensure hip surveillance guidelines reflect current evidence of factors influencing hip displacement in children with cerebral palsy (CP). METHOD:A three-step review process was undertaken: (1) systematic literature review, (2) analysis of hip surveillance databases, and (3) national survey of orthopaedic surgeo...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/dmcn.12754
更新日期:2015-09-01 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:AIM:The aim of this study was to compare thermal detection and pain thresholds in children with Down syndrome with those of their siblings. METHOD:Sensory detection and pain thresholds were assessed in children with Down syndrome and their siblings using quantitative testing methods. Parental questionnaires addressing...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.12823
更新日期:2015-11-01 00:00:00
abstract::A prospective 14-year outcome study of two children meeting DSM-IV criteria for childhood disintegrative disorder is presented. Their ages at first evaluation were 4 years 7 months and 6 years 3 months. Both are now adults and continue to have a severe pervasive developmental disorder, mental retardation, seizure diso...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1998.tb12331.x
更新日期:1998-10-01 00:00:00
abstract::One-hundred-and-sixty-six children whose blood lead levels had previously been determined were assessed on a battery of psychometric tests. Blood lead levels ranged from 7 to 33 micrograms/100 ml, and the group performed within the average range on all tests of attainment and intelligence. There were significant assoc...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1981.tb02038.x
更新日期:1981-10-01 00:00:00
abstract::Fixation, nystagmus, pursuit, rapid voluntary, other types of eye movements and associated head movements of visually impaired children were studied. It was concluded that their eye and head movements reflect the severity and onset of their visual loss. ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1986.tb03874.x
更新日期:1986-06-01 00:00:00
abstract::Hand preference and functional hand-dominance of 45 spina bifida patients (aged 13 to 25 years) were assessed by means of self-reports on an ordinal scale and a tapping task. Non-right-handedness was more frequent among patients with accompanying progressive hydrocephalus. Left-hand preference was significantly more f...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1993.tb11730.x
更新日期:1993-09-01 00:00:00
abstract::Observations were made of people with physical impairments, disabilities and handicaps during a two-month journey in remote, mountainous areas of Nepal where traditional forms of village life have been maintained. Descriptions are given of the types and frequency of visible physical impairments and their distribution ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1983.tb13839.x
更新日期:1983-12-01 00:00:00
abstract::Individuals with Down syndrome (DS), a disorder of known genetic etiology (trisomy of chromosome 21), exhibit several types of structural brain abnormalities that are detectable pathologically and by MRI. In addition, in middle age, individuals with DS develop histological and, in some cases, clinical features of Alzh...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:
更新日期:1998-05-01 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::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: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:AIM:The aim of this study was to assess the role of disability and victimization in young people's participation in developmentally salient activities by analyzing a nationally representative group of young people from the child welfare system (CWS). METHOD:Data were obtained from interviews with young people and thei...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.12678
更新日期:2015-06-01 00:00:00
abstract::Forty-five neurologically normal preterm infants were allocated to one of two groups according to their gestational age at birth (less than 32 weeks; 32 to 36 weeks). Their gross and fine motor development was assessed at eight and 12 months chronological age and eight and 12 months adjusted age. At eight months chron...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1989.tb04044.x
更新日期:1989-10-01 00:00:00
abstract::Cross-correlograms between voluntarily active soleus (SOL) and tibialis anterior (TA) motor units were generated from seven control subjects and six subjects with spastic cerebral palsy (CP). Short-duration central peaks were observed in three subjects with spastic diplegia only. All subjects demonstrated reciprocal i...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1996.tb15113.x
更新日期:1996-09-01 00:00:00
abstract:AIM:The aim of the study was to support clinicians in recommending and justifying power mobility for children of different ages and abilities, and with different needs. The study comprised three distinct parts: a literature review; a Delphi consensus; and clinical practice considerations. METHOD:A scoping review of ei...
journal_title:Developmental medicine and child neurology
pub_type: 共识发展会议,杂志文章,评审
doi:10.1111/dmcn.12245
更新日期:2014-03-01 00:00:00
abstract::As infants with bronchopulmonary dysplasia (BPD) have difficulty maintaining adequate levels of oxygenation during rest, it was decided to investigate how the additional respiratory demands associated with nutritive feeding disrupt their breathing rates. The sucking and breathing patterns of six (three male, three fem...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162299001279
更新日期:1999-09-01 00:00:00
abstract::There is evidence that in early embryos, mechanisms exist for the control of the movement of monovalent ions; that sodium is extruded during gastrulation and neurulation, and that in two- to three-day-old chick embryos with head abnormalities, ratios of sodium to potassium may be abnormally high. It is suggested that ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1975.tb04968.x
更新日期:1975-02-01 00:00:00
abstract::Postural sway and gait of 35 children with convergent strabismus were tested and compared with those of a control group. They were found to have a short stride-length and single-limb support time in walking, particularly at slow speeds. The girls had a large postural sway, but not the boys. The results suggest a commo...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1984.tb04477.x
更新日期:1984-08-01 00:00:00
abstract::The compliance and maturation of visual acuity of 1245 2 1/2- to nine-year-olds was investigated. Testing was undertaken as part of routine surveillance. Ability to letter match, to achieve a binocular measure and to achieve monocular measures for children under three years was 89, 78 and 37 per cent, for children age...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1995.tb12038.x
更新日期:1995-06-01 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:The aim of this study was to define the prevalence of and risk factors for behavioural disorders in children with epilepsy from a rural district of Tanzania by conducting a community-based case-control study. METHOD:One hundred and twelve children aged 6 to 14 years (55 males, 57 females; median age 12 y) with act...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2011.04109.x
更新日期:2011-12-01 00:00:00
abstract::Ohtahara syndrome is a rare cause of epileptic seizures during the neonatal period. This is believed to be the first report of this syndrome with a specific metabolic defect. Defects in respiratory chain function may be more common than previously assumed in patients with this epilepsy syndrome. ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1998.tb15416.x
更新日期:1998-08-01 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::Lasting socio-emotional behaviour difficulties are common among children who have suffered brain injuries. A proportion of difficulties may be attributed to impaired cognitive and/or executive skills after injury. A recent and rapidly accruing body of literature indicates that deficits in recognizing and responding to...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/j.1469-8749.2008.03219.x
更新日期:2009-01-01 00:00:00
abstract:AIM:The aim of this study was to describe trends in prevalence, subtypes, and severity among children with cerebral palsy (CP) born moderately preterm (MPT; (gestational age 32-36 wks) or at moderately low birthweight (MLBW; 1500-2499 g) in Europe. METHOD:We conducted trend analyses of data from 903 children with CP b...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1469-8749.2011.04079.x
更新日期:2011-10-01 00:00:00
abstract::In the development of a new diagnostic motor performance test to spare more children from painful muscle biopsy, seven functional items were used to measure muscle strength and muscle endurance in a prospective study on new patients. Over a 2-year period, 22 patients (12 males, 10 females; mean age 8y 1mo [SD 2y 6mo],...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/S0012162206001587
更新日期:2006-09-01 00:00:00