Abstract:
:Ataxia-telangiectasia is a rare, neurodegenerative, and multisystem disease, characterized by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, progressive respiratory failure, and an increased risk of malignancies. It demands specialized care tailored to the individual patient's needs. Besides the classic ataxia-telangiectasia phenotype, a variant phenotype exists with partly overlapping but some distinctive disease characteristics. This guideline summarizes frequently encountered medical problems in the disease course of patients with classic and variant ataxia-telangiectasia, in the domains of neurology, immunology and infectious diseases, pulmonology, anaesthetic and perioperative risk, oncology, endocrinology, and nutrition. Furthermore, it provides a practical guide with evidence- and expert-based recommendations for the follow-up and treatment of all these different clinical topics.
journal_name
Dev Med Child Neuroljournal_title
Developmental medicine and child neurologyauthors
van Os NJH,Haaxma CA,van der Flier M,Merkus PJFM,van Deuren M,de Groot IJM,Loeffen J,van de Warrenburg BPC,Willemsen MAAP,A-T Study Group.doi
10.1111/dmcn.13424subject
Has Abstractpub_date
2017-07-01 00:00:00pages
680-689issue
7eissn
0012-1622issn
1469-8749journal_volume
59pub_type
杂志文章,实务指引,评审abstract::Functional impairments can limit a child's ability to participate in the experiences of childhood. This'deprivation'can, in turn, have a negative effect on such children's development, academic performance, and quality of life, as well as on the lives of their caregivers and families. Many adults use assistive devices...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/j.1469-8749.2007.02021.x
更新日期:2008-02-01 00:00:00
abstract::Long-term continuous intrathecal baclofen (CITB) infusion is a treatment option used to manage otherwise intractable spasticity and is delivered via an implantable pump. The purpose of this single-center multidisciplinary review was to report on the long-term safety and efficacy of CITB in the treatment of 21 children...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162201002729
更新日期:2002-10-01 00:00:00
abstract:AIM:Parental report is often relied on to measure performance of activities in children with cerebral palsy (CP). This study examined whether the Functional Mobility Scale (FMS) accurately reflects performance of mobility in children with CP. METHOD:Eighteen children with spastic CP (11 males, seven females; mean age ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2009.03354.x
更新日期:2010-02-01 00:00:00
abstract:AIM:To assess the reliability and predictive validity of the developmental and socio-emotional scales of the Standardized Infant NeuroDevelopmental Assessment (SINDA). METHOD:To assess reliability, two sets of three assessors forming eight assessor-pairs independently rated the developmental and socio-emotional scales...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.14423
更新日期:2020-07-01 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:To estimate the prevalence of mental illness in parents of children with cerebral palsy (CP). METHOD:This is a systematic review that follows the Preferred Reporting Items for Systematic Review and Meta-Analysis Protocols in the search for observational studies determining the prevalence of depression, anxiety, an...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.14321
更新日期:2020-02-01 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
abstract:AIM:To evaluate the contribution of somatosensory evoked potentials after median nerve (MN-SEPs) and posterior tibial nerve (PTN-SEPs) stimulation in functional assessment of cervical and lumbar spinal stenosis in children with achondroplasia. METHOD:We reviewed MN-SEPs, PTN-SEPs, and spinal magnetic resonance imaging...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.13243
更新日期:2017-02-01 00:00:00
abstract::The importance of the family environment for the development of children with neurodisabilities is undisputed. The objective of this study is to describe how family environment has been measured in research on families of children with neurodisabilities, in order to support researchers and clinicians to select appropr...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/dmcn.13287
更新日期:2017-03-01 00:00:00
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 o...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1978.tb15308.x
更新日期:1978-12-01 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: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::Six boys and five girls with a mean age of 8.6 (range 3 to 13) years with foetal alcohol syndrome (FAS) were studied by MRI and single photon emission computed tomography (SPECT) to find specific areas of vulnerability. Morphological anomalies shown in six of 11 patients by MRI were situated both cortically and subcor...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162299001358
更新日期:1999-10-01 00:00:00
abstract::We present a 9-month-old male with acute rotavirus gastroenteritis who developed an acute encephalopathy with focal seizures and developmental regression. Magnetic resonance imaging showed bilateral striatal necrosis and raised glutarylcarnitine levels on tandem mass spectrometry of a (crisis) blood spot, and chromato...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162205000800
更新日期:2005-06-01 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::A two-month-old child born with marked microcephaly (head circumference 17cm) was found at autopsy to have gliomesodermal tissue replacing the telencephalon (atelencephaly). This finding, together with genital anomalies and hypoplasia of the extremities, suggests arrest at the fifth week of fetal life. The clinical an...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1977.tb07973.x
更新日期:1977-04-01 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::Today, treatment for children with cerebral palsy predominantly aims at improving the children's possibilities to perform everyday activities in their natural environment. The activities in focus for intervention are often expressed as specific goals, frequently defined in a collaborative goal-setting process between ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/dmcn.12307
更新日期:2013-11-01 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::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::The aim of this study was to determine whether there are primary effects of prematurity on the development of explicit memory. Elicited imitation of action sequences was used to compare immediate and 15-minute delayed memory in term and preterm infants (19 months corrected age; n=48) who were at low risk: none had exp...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162200000542
更新日期:2000-05-01 00:00:00
abstract::The purpose of this study was to determine the effect clinically prescribed ankle-foot orthoses (AFOs) have on the temporal-spatial parameters of gait, as compared with barefoot walking in children with cerebral palsy. A retrospective chart review of data collected between 1995 and 1999 in our motion analysis laborato...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162201001992
更新日期:2002-04-01 00:00:00
abstract::The clinical importance of intermittent intracranial pressure (ICP) elevations during sleep in hydrocephalic children is unclear. Eight studies of continuous ICP monitoring with simultaneous cerebral blood-flow velocity (CBFV) measurements were recorded during sleep in seven hydrocephalic children aged between one and...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1992.tb11503.x
更新日期:1992-08-01 00:00:00
abstract:AIM:To examine the neurobiology of long-term neuropsychological deficits after neonatal extracorporeal membrane oxygenation (ECMO). METHOD:This cross-sectional study assessed white matter integrity and hippocampal volume of ECMO survivors (8-15y) and healthy children (8-17y) using diffusion tensor imaging (DTI) and st...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.13309
更新日期:2017-03-01 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::Minor neurological dysfunction (MND) and quality of movement were studied in relation to neonatal cerebral damage and developmental assessments at 3 1/2 years of age in 66 very low-birthweight children without obvious disability. MND was found in 19 children and was significantly related to the quality of movement. Th...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1994.tb11915.x
更新日期:1994-08-01 00:00:00
abstract::Nine children (five males, four females; age range 6 years 1 month to 11 years 1 month) affected by benign epilepsy of childhood with centrotemporal or Rolandic spikes (BECRS) with EEG evidence of marked activation of interictal epileptic discharges (IEDs) during sleep, and nine unaffected control children matched for...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162201000755
更新日期:2001-06-01 00:00:00
abstract::Thrombotic and thromboembolic complications are the main causes of morbidity and mortality in patients with homocystinuria. However, it is unusual for thrombosis and infarction to be the presenting feature leading to investigation for homocystinuria and cerebrovascular lesions in the first year of life. We describe a ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162299000250
更新日期:1999-02-01 00:00:00
abstract::Children with physical disabilities are at increased risk of limitations to participation in everyday activities. This study describes research examining the participation of children in day-to-day formal and informal activities (excluding mandated academic schooling). Using the Children's Assessment of Participation ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/S0012162206000740
更新日期:2006-05-01 00:00:00
abstract::A behavioural modification package incorporating stimulus control, cueing, and rapid-extinction techniques was applied to a group of 15 children with severe learning disability who had chronic sleep disorders. Improvements in their night-settling and night-waking patterns occurred quickly (within a few days) and, in 1...
journal_title:Developmental medicine and child neurology
pub_type: 临床试验,杂志文章
doi:
更新日期:1997-08-01 00:00:00