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:AIM:To review current studies on the effectiveness of neurofeedback as a method of treatment of the core symptoms of autism spectrum disorders (ASD). METHOD:Studies were selected based on searches in PubMed, Ovid MEDLINE, EMBASE, ERIC, and CINAHL using combinations of the following keywords: 'Neurofeedback' OR 'EEG Bi...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/j.1469-8749.2011.04043.x
更新日期:2011-11-01 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::We aimed to report our institution's experience with gabapentin therapy to manage agitation and pain in the neonatal intensive care unit (NICU) setting. This was a retrospective, single-center study of NICU patients admitted between January 2015 and December 2017, who received gabapentin. Data on neonatal agitation, p...
journal_title:Developmental medicine and child neurology
pub_type:
doi:10.1111/dmcn.14324
更新日期:2020-03-01 00:00:00
abstract:AIM:This review explores the molecular, neurological, and behavioural outcomes in animal models of uterine artery ligation. We analyse the relevance of this type of model to the pathological and functional phenotypes that are consistent with cerebral palsy and its developmental comorbidities in humans. METHOD:A litera...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/dmcn.12599
更新日期:2015-05-01 00:00:00
abstract::Fifty normal kindergarten and 50 first-grade children were examined three times at six-month intervals for synkineses to stress gaits and mirror movements to finger lifting, finger spreading, and timed motor maneuvers. Motor signs in the age-sensitive range showed substantial individual differences between children of...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1983.tb13786.x
更新日期:1983-08-01 00:00:00
abstract::One hundred and forty-three healthy children between six months and two years of age were studied to determine the effect of food texture on chewing duration. Texture determined very strongly how long a bite of food was chewed, with solids taking longest, followed by viscous food and purée, respectively. As children g...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1991.tb14786.x
更新日期:1991-01-01 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:AIM:To assess the sensitivity and specificity of automated movement recognition in predicting motor impairment in high-risk infants. METHOD:We searched MEDLINE, Embase, PsycINFO, CINAHL, Web of Science, and Scopus databases and identified additional studies from the references of relevant studies. We included studies ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/dmcn.14800
更新日期:2021-01-09 00:00:00
abstract::The ambulatory status of 74 neonatal intensive care unit survivors with cerebral palsy, excluding those with central nervous system malformations and syndromes, was assessed at eight years of age. Detailed examinations were completed at two and eight years of age; of the 47 who were sitting by two years, 46 became amb...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1989.tb04072.x
更新日期:1989-12-01 00:00:00
abstract:AIM:The aim of this study was to review systematically evidence about the efficacy of motor interventions for children with developmental coordination disorder (DCD), and to quantify treatment effects using meta-analysis. METHOD:Included were all studies published between 1995 and 2011 that described a systematic revi...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,meta分析,评审
doi:10.1111/dmcn.12008
更新日期:2013-03-01 00:00:00
abstract:AIM:There is a large literature reporting risk factor analyses for poor neurodevelopment in children born very preterm (VPT: ≤32wks) or very low birthweight (VLBW: ≤1250g), which to date has not been formally summarized. The aim of this paper was to identify prognostic factors for cerebral palsy (CP) and motor impairme...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/dmcn.12972
更新日期:2016-06-01 00:00:00
abstract::Chiari type II malformation (CII) is a congenital anomaly of the cerebellum and brainstem, both important structures for processing smooth ocular pursuit. CII is associated with myelomeningocele and hydrocephalus. We investigated the effects of CII on smooth pursuit (SP) eye movements, and determined the effects of sp...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2007.00289.x
更新日期:2007-04-01 00:00:00
abstract:AIM:To conduct a systematic literature review on patients with biphasic disease with herpes simplex virus (HSV) encephalitis followed by anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis. METHOD:We conducted a case report and systematic literature review (up to 10 December 2016), focused on differences between h...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/dmcn.13448
更新日期:2017-08-01 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::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::We studied whether children with severe developmental disabilities (SDDs) who have a comorbid behavioral disorder also have higher rates of special healthcare needs (SHCNs). We used a matched-comparison control group design to establish whether SHCNs were higher in children with SDDs with behavioral disorders versus c...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2007.00926.x
更新日期:2007-12-01 00:00:00
abstract::Anencephalic infants born to women who are very prone to bear them do not have a sex ratio appreciably different from that of other anencephalic births. Moreover, the sexes of affected cases in sibships containing exactly two anencephalic births seem to be distributed approximately binomially. Bearing in mind the corr...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1980.tb04375.x
更新日期:1980-10-01 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::This review considers carbohydrate metabolism in the developing brain, in particular the proportion of glucose metabolized via the pentose phosphate pathway. Although small in amount, this fraction serves a vital rôle in some aspects of brain function. Evidence is presented that the pentose phosphate pathway subserves...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1977.tb08027.x
更新日期:1977-02-01 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::Gliomatosis cerebri is the unifying term used when diffuse glial infiltration occurs throughout the cerebral hemispheres. The very few cases reported in children have presented with intractable epilepsy, corticospinal tract deficits, unilateral tremor, headaches, and developmental delay. Antemortem diagnosis is diffic...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162201000214
更新日期:2001-02-01 00:00:00
abstract::In order to clarify the extent and cause of African infants' precocity in motor development, as reported by Geber and others, 64 babies and their families were intensively studied in a rural Kenyan community. It was found that the motor skills of sitting and walking, which the Kenyan babies acquired early (by American...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1976.tb04202.x
更新日期:1976-10-01 00:00:00
abstract::The conduction velocities of motor, IA and non-nociceptive cutaneous sensory fibres have been studied in the ulnar and median nerves of 145 healthy fullterm neonates and in 77 preterm neonates (postconceptional age-range 28 to 42 weeks). The posterior tibial-nerve motor and IA fibres were studied: the sural nerve cuta...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1989.tb08411.x
更新日期:1989-02-01 00:00:00
abstract::Fourteen children with hydrocephalus associated with myelodysplasia were given isosorbide (8 to 12 g/kg/day) and compared with 17 children managed without it. Three of the treated and three of the untreated children did not require shunting. The mean interval between back closure and shunt placement was 33 days for th...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1992.tb14981.x
更新日期:1992-02-01 00:00:00
abstract:AIM:Our aim was to contribute new findings related to the pre-regressional verbal development of females with a variant of Rett syndrome (RTT) as the loss of spoken language is one of the key clinical features of RTT, and it would be of particular interest to study the early speech-language development of females who a...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2012.04123.x
更新日期:2012-05-01 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::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::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::Nineteen sightless children and adolescents aged between 11 and 18 years were tested for physical condition and performance. Their residential school provided four adapted physical education lessons a week, lasting for 45 minutes. Their physical condition and performance was found to be comparable with that of normal ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1985.tb03801.x
更新日期:1985-12-01 00:00:00
abstract::Serum thyroid hormone levels were measured in women living in an area of severe dietary iodine deficiency in a remote region of Papua New Guinea. Levels of maternal hormone were found to be related to the motor competence of the women's offspring, who were aged between six years and 11 years 10 months at the time of a...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1981.tb08448.x
更新日期:1981-02-01 00:00:00