Abstract:
:Although prematurity and hypoxic-ischaemic injury are well-recognized contributors to the pathogenesis of cerebral palsy (CP), as many as one-third of children with CP may lack traditional risk factors. For many of these children, a genetic basis to their condition is suspected. Recent findings have implicated copy number variants and mutations in single genes in children with CP. Current studies are limited by relatively small patient numbers, the underlying genetic heterogeneity identified, and the paucity of validation studies that have been performed. However, several genes mapping to intersecting pathways controlling neurodevelopment and neuronal connectivity have been identified. Analogous to other neurodevelopmental disorders such as autism and intellectual disability, the genomic architecture of CP is likely to be highly complex. Although we are just beginning to understand genetic contributions to CP, new insights are anticipated to serve as a unique window into the neurobiology of CP and suggest new targets for intervention.
journal_name
Dev Med Child Neuroljournal_title
Developmental medicine and child neurologyauthors
Fahey MC,Maclennan AH,Kretzschmar D,Gecz J,Kruer MCdoi
10.1111/dmcn.13363subject
Has Abstractpub_date
2017-05-01 00:00:00pages
462-469issue
5eissn
0012-1622issn
1469-8749journal_volume
59pub_type
杂志文章,评审abstract::This paper reports a total population-based cohort study of over 500 surviving children born in 1974, 1975 and 1976, who were identified as having been a low birthweight (less than 200g). The prevalence of cerebral palsy (CP) diagnosed by age six years was compared for groups who had various antenatal and perinatal at...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:
更新日期:1986-10-01 00:00:00
abstract::Six children with morphological hair-shaft abnormalities and neurological disease are presented, including two with Pollitt syndrome, one with biotin deficiency, two with Menkes diseases and one with argininosuccinic aciduria. The child with biotin deficiency grew normal hair following oral biotin therapy. Although th...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1982.tb13674.x
更新日期:1982-10-01 00:00:00
abstract::Animal studies suggest that spatial skills are dependent on an intact septum pellucidum. This theory was tested by comparing patients who were visually impaired due to bilateral optic nerve hypoplasia: 13 with a septum pellucidum were compared with six children without a septum pellucidum. There was no difference in s...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1994.tb11832.x
更新日期:1994-03-01 00:00:00
abstract::Twenty-three survivors of a prospective study of infants with Down's syndrome were followed up at eight or nine years of age. All but three lived at home, and those three came home for weekends or school holidays. IQs varied from less than 20 to 80 (mean 48). IQ and adaptive behaviour scores were related to birthweigh...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1984.tb04478.x
更新日期:1984-08-01 00:00:00
abstract::In a population-based sample of 149 children with hemiplegia, IQ was highly correlated with a simple-to-calculate index of neurological severity. Performance IQ was an average of 13 points lower then verbal IQ-a difference that seemed to reflect specific visuospatial difficulties rather than an effect of the motor dis...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1996.tb15045.x
更新日期:1996-10-01 00:00:00
abstract:AIM:to report the prevalence, clinical associations, and trends over time of oromotor dysfunction and communication impairments in children with cerebral palsy (CP). METHOD:multiple sources of ascertainment were used and children followed up with a standardized assessment including motor speech problems, swallowing/ch...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2010.03765.x
更新日期:2010-12-01 00:00:00
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 w...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1996.tb12144.x
更新日期:1996-08-01 00:00:00
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:AIM:To identify and critically appraise standardized measures of power mobility skill used with children (18y or younger) with mobility limitations and explore the measures' application for 'exploratory', 'operational', and 'functional' learners. METHOD:Five electronic databases were searched along with hand-searching...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/dmcn.13709
更新日期:2018-10-01 00:00:00
abstract::Five children are described who developed hypertension in relation to acute neurological disease. Possible pathophysiological mechanisms for the hypertension are considered. It is thought that the hypertension may have been related to interruption of the ascending tracts in the brain stem, leading to failure of integr...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1977.tb07936.x
更新日期:1977-08-01 00:00:00
abstract::Although autism can occur in conjunction with a range of other conditions, the association with Down syndrome is generally considered to be relatively rare. Four young boys with Down syndrome are described who were also autistic. All children clearly fulfilled the diagnostic criteria for autism required by the ICD-10 ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1995.tb12024.x
更新日期:1995-05-01 00:00:00
abstract:AIM:We have previously demonstrated improved cognitive performance after a classroom-based exercise regime. In this study, we examined the reproducibility of this effect in a more socio-economically diverse sample and also investigated whether cognitive benefits of exercise were moderated by body mass index (BMI) or sy...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,随机对照试验
doi:10.1111/j.1469-8749.2011.03954.x
更新日期:2011-07-01 00:00:00
abstract::Perinatal hypoxic-ischaemic encephalopathy (HIE) occurs in 1 to 3 per 1000 term births. HIE is not preventable in most cases, and therapies are limited. Hypothermia improves outcomes and is the current standard of care. Yet, clinical trials suggest that 44-53% of infants who receive hypothermia will die or suffer mode...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/dmcn.12730
更新日期:2015-04-01 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 investigate the diagnostic yield and treatment impact of whole-genome sequencing (WGS) in patients with paediatric neurological disorders. METHOD:From January 2016 to December 2019, paediatric patients who had suspected genetic neurological disorders were assessed using WGS. The phenotypes of eligible patients ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.14722
更新日期:2020-11-26 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:The aim of the study was to develop an ecologically valid synthesis of the evidence underpinning interventions for children with speech, language, and communication needs (SLCN), integrating a range of different data sources. METHOD:Three sources of information were integrated: the Cochrane Review of interventions...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/dmcn.12630
更新日期:2015-03-01 00:00:00
abstract:AIM:To explore the appropriateness of applying a detailed assessment of general movements and characterize the relationship between global and detailed assessment. METHOD:The analysis was based on 783 video recordings of 233 infants (154 males, 79 females) who had been videoed from 27 to 45 weeks postmenstrual age. Ap...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.12923
更新日期:2016-04-01 00:00:00
abstract::Cisapride was used to treat gastro-oesophageal reflux in seven children with neurodevelopmental disorders and in 15 children who were neurologically normal. 24-hour lower-oesophageal pH monitoring was carried out before and after treatment. The neurologically normal group had a statistically significant decrease after...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1990.tb08547.x
更新日期:1990-07-01 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: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::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::Forty-three healthy children aged between six and 12 years were tested to determine the intra-rater reliability of four clinical cutaneous and proprioceptive sensory assessment tools: touch pressure, vibration perception, thermal discrimination and kinaesthesis. The tests were carried out bilaterally on proximal and d...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1994.tb08190.x
更新日期:1994-09-01 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:AIM:To identify the prevalence of knee contracture and its association with gross motor function, age, sex, spasticity, and muscle length in children with cerebral palsy (CP). METHOD:Cross-sectional data for passive knee extension were analysed in 3 045 children with CP (1 756 males, 1 289 females; mean age 8y 1mo [SD...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.13659
更新日期:2018-04-01 00:00:00
abstract::The relationship between skeletal age and cognitive ability was examined in a probability sample representative of 12- to 17-year-old males in the United States. Skeletal age was measured by radiographic determination of bone maturation. Cognitive development was assessed by WISC Vocabulary and Block-design subtests. ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1987.tb02488.x
更新日期:1987-06-01 00:00:00
abstract:AIM:To estimate the impact of different types of language disorders on socio-emotional development and health-related quality of life (HRQOL) in 8-year-old children. METHOD:In a prospective cohort including 13 427 newborns, of 10 911 eligible children (66 excluded because of intellectual disability or foreign language...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2010.03794.x
更新日期:2011-01-01 00:00:00
abstract:AIM:To determine dimensionality and item-level properties of the Gillette Functional Assessment Questionnaire (FAQ) 22-item skill set using factor and Rasch analyses. METHOD:A retrospective review of parent-reported FAQ 22-item skill set data was conducted of 485 individuals (273 males, 212 females; mean age 9 y 10 mo...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2010.03832.x
更新日期:2011-03-01 00:00:00
abstract::Feeding abilities in 20 individuals with Rett syndrome aged 1 1/2 to 33 years were investigated by history and clinical assessment during a meal, followed by videofluoroscopy of feeding. All were shown to have reduced movements of the mid and posterior tongue, with premature spillover of food and liquid from the mouth...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1997.tb07440.x
更新日期:1997-05-01 00:00:00
abstract::The developing brain is especially sensitive to a wide range of experiences, showing a remarkable capacity for plastic changes that influence behavioural outcomes throughout the lifetime. We review the principles that regulate this plasticity in development and consider the factors that modulate the developing brain. ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/dmcn.13546
更新日期:2017-12-01 00:00:00