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 dominantly inherited cases of the axonal degenerative forms of Charcot-Marie-Tooth disease (CMT type 2A) and of rarer variants. The latter include a severe, early-onset axonal neuropathy, which may occur in autosomal dominant or recessive forms, as well as some instances associated with pyramidal tract involvement (CMT type 5), with optic atrophy (CMT type 6), and, occasionally, with alterations of cerebral white matter. All individuals with a dominantly or recessively inherited or otherwise unexplained, chronic progressive axonal degenerative polyneuropathy should be tested for mutations of MFN2.
journal_name
Dev Med Child Neuroljournal_title
Developmental medicine and child neurologyauthors
Ouvrier R,Grew Sdoi
10.1111/j.1469-8749.2010.03613.xsubject
Has Abstractpub_date
2010-04-01 00:00:00pages
328-30issue
4eissn
0012-1622issn
1469-8749pii
DMCN3613journal_volume
52pub_type
杂志文章,评审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:AIM:To investigate longitudinal changes of habitual physical activity (HPA) and sedentary time in children with cerebral palsy (CP) aged 1 year 6 months to 5 years across all functional abilities. METHOD:At study entry, 95 children (62 males, 33 females) were classified using the Gross Motor Function Classification Sy...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.13439
更新日期:2017-08-01 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::The authors studied MR images of the brain in 152 patients, aged 1 to 19 years (mean 3.3), who had spastic cerebral palsy (CP) and were attending two hospitals in Japan in 1993 and 1994. Eighty-one patients had diplegia, 45 had quadriplegia, and 26 had hemiplegia. Of patients with diplegia, 72 had periventricular leuk...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:
更新日期:1997-06-01 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:AIM:To review the evidence for behavioural interventions to reduce drooling in children with neurodisability. METHOD:A detailed search in eight databases sought studies that: (1) included participants aged 0 to 18 years with neurodisability and drooling; (2) provided behavioural interventions targeting drooling or a d...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.14048
更新日期:2019-01-01 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::AIM This prospective multicenter study assessed performance and changes over time, with and without surgical intervention, in the modified Timed Up and Go (mTUG) and One-Minute Walk tests (1MWT) in children with bilateral cerebral palsy (CP). Minimum clinically important differences (MCIDs) were established for these ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,多中心研究
doi:10.1111/dmcn.12325
更新日期:2014-05-01 00:00:00
abstract:AIM:To explore the views and practices of paediatric occupational therapists and physical therapists in Canada and the USA regarding the implementation of power mobility for children with mobility limitations. METHOD:This descriptive study utilized a web-based survey that included questions pertaining to therapists' d...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.13960
更新日期:2018-10-01 00:00:00
abstract::The ability to produce and sustain a criterion level of precision isometric grip force was studied in a group of 7- to 12-year-old children with cerebral palsy (CP) and in a control group. On-line visual feedback of the forces produced relative to a stationary target was provided for each 5-second trial. Subjects prac...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1998.tb15397.x
更新日期:1998-07-01 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:AIM:To give evidence-based recommendations on the application of ketogenic diet parenteral nutrition (KD-PN) in emergency situations. METHOD:An international group of experts (n=14) researched the literature and distributed a survey among 150 expert centers. International accepted guidelines (European Society for Clin...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.14306
更新日期:2020-01-01 00:00:00
abstract:AIM:Studies on the use of intrathecal baclofen (ITB) for ambulant adults with spasticity and/or dystonia of cerebral origin are scarce, and are even more limited for children and adolescents. This systematic review investigates the use of ITB to improve walking, transfer ability, and gross motor activities in ambulant ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/j.1469-8749.2011.03992.x
更新日期:2011-10-01 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: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::Neural reuse is the process by which neural elements originally developed for one purpose are put to many different subsequent uses. In this brief review I will outline the role of neural reuse in the development of the brain. Special attention will be paid to elucidating and differentiating between two different mech...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/dmcn.13039
更新日期:2016-03-01 00:00:00
abstract:AIM:To compare the efficacy and safety of prednisolone/prednisone and adrenocorticotropic hormone (ACTH) in the treatment of infantile spasms using a meta-analysis of randomized controlled trials (RCTs). METHOD:In a systematic literature search of electronic databases (MEDLINE, Embase, the Cochrane Library), we identi...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,meta分析
doi:10.1111/dmcn.14452
更新日期:2020-05-01 00:00:00
abstract::This study compared the effects of oral stimulation with those of oral support on non-nutritive sucking and feeding parameters in preterm infants. Preterm infants (23 males, 20 females) born between 29 and less than 34 weeks' gestational age (GA; mean GA 31.2wks [standard error of mean{SEM} 0.39]; mean birth-weight 15...
journal_title:Developmental medicine and child neurology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1469-8749.2007.00439.x
更新日期:2007-06-01 00:00:00
abstract::We assessed the influence of equinus gait treatments on the vertical displacement of the body's centre of mass (COM) in 21 patients with cerebral palsy (14 males, 7 females; mean age 8 y 9 mo [SD 2 y]; range 3 y 7 mo-17 y) presenting different topographical types (quadriplegia, n = 1; diplegia, n = 6; right hemiplegia...
journal_title:Developmental medicine and child neurology
pub_type: 临床试验,杂志文章
doi:10.1017/S0012162206001757
更新日期:2006-10-01 00:00:00
abstract::The purpose of the present study was to examine possible differences between high-functioning males and females with autism spectrum disorder (ASD) regarding the core symptoms of autism and coexisting psychopathology. A total of 23 females and 23 males matched for age, IQ, and ASD diagnoses were recruited(mean age 11y...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2007.00361.x
更新日期:2007-05-01 00:00:00
abstract::A follow-up study was done of extremely low-birthweight infants (less than or equal to 1000g) born between 1976 and 1979, a period when aggressive intervention was not routine practice. The survival rate was 19 per cent. 44 of the 46 survivors were followed to a mean age of 6 1/2 years. By five years of age 23 of the ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1988.tb04748.x
更新日期:1988-04-01 00:00:00
abstract::There is increasing interest in the role of autoantibodies in acquired autoimmune central nervous system disorders. N-methyl-D-aspartate receptor (NMDAR) encephalitis is an autoimmune encephalitis defined by the presence of autoantibodies that bind to the NMDAR. Although there is evidence of NMDAR antibody pathogenici...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.12036
更新日期:2013-02-01 00:00:00
abstract:AIM:New tools that capture hand function in everyday activities and contexts are needed for assessing children with hemiplegic cerebral palsy. This study evaluates a wearable wrist monitor and tests the hypothesis that wrist extension frequency (FreqE) is an appropriate indicator of functional hand use. METHOD:Fifteen...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2011.04078.x
更新日期:2011-11-01 00:00:00
abstract::The purpose of this study was to analyze retrospectively which neuromotor behaviors in a sample of four-month-old low-birthweight infants were most predictive of later cerebral palsy. The infants were evaluated at four months corrected age on the Movement Assessment of Infants (MAI) and were followed to between three ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1987.tb02511.x
更新日期:1987-08-01 00:00:00
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 nu...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/dmcn.13363
更新日期:2017-05-01 00:00:00
abstract::This study examined the social and academic implications of mainstream, mainstream and special (combined) or special-class education for 31 adolescents with spina bifida, and for their primary caretakers. The Peabody Picture Vocabulary Test and the UCLA Loneliness Scale (adolescents) and the Personality Inventory for ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1990.tb08463.x
更新日期:1990-01-01 00:00:00
abstract:AIM:This systematic review and meta-analysis presents an overview of the efficacy of suit therapy on functioning in children and adolescents with cerebral palsy (CP). METHOD:A systematic review with meta-analysis was conducted. A comprehensive search of peer-reviewed articles was performed on electronic databases, fro...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,meta分析,评审
doi:10.1111/dmcn.12988
更新日期:2016-04-01 00:00:00
abstract::Endogenous opioid dysfunction hypotheses for the development of autism are reviewed, along with clinical empirical studies of opiate antagonists in autism and self-injurious behaviour. There is not yet sufficient evidence to suggest the use of opiate antagonists in the treatment of autism. Further research, particular...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1995.tb11998.x
更新日期:1995-03-01 00:00:00
abstract::Post-discharge preventive intervention programmes with involvement of the parent may support the resilience and developmental outcomes of infants born very preterm. Randomized controlled trials of home-based family-centred intervention programmes in very preterm infants that aimed to improve cognitive outcome, at leas...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/dmcn.13049
更新日期:2016-03-01 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