Abstract:
:Guanidinoacetate methyltransferase (GAMT) deficiency is a disorder of creatine biosynthesis, characterized by early-onset learning disability and epilepsy in most affected children. Severe expressive language delay is a constant feature even in the mildest clinical phenotypes.We report the clinical, biochemical, imaging, and treatment data of two female siblings (18y and 13y) with an unusual phenotype of GAMT deficiency. The oldest sibling had subacute onset of a movement disorder at age 17 years, later than has been previously reported. The younger sibling had better language skills than previously described in this disorder. After treatment with creatine, arginine restriction and ornithine-supplemented diet, seizure severity and movement disorder were reduced but cognition did not improve. This report confirms that GAMT deficiency, a heterogeneous, potentially treatable disorder, detected by increased levels of guanidinoacetate in body fluids (e.g. plasma or urine) or by an abnormal creatine peak on magnetic resonance spectroscopy, should be considered in patients of any age with unexplained, apparently static learning disability and epilepsy.
journal_name
Dev Med Child Neuroljournal_title
Developmental medicine and child neurologyauthors
O'Rourke DJ,Ryan S,Salomons G,Jakobs C,Monavari A,King MDdoi
10.1111/j.1469-8749.2008.03227.xsubject
Has Abstractpub_date
2009-05-01 00:00:00pages
404-7issue
5eissn
0012-1622issn
1469-8749journal_volume
51pub_type
杂志文章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::Following obstetrical brachial plexus injury, infants are unable to learn specific patterns of movement due to the disruption of neural pathways. Even with successful reinnervation (spontaneously or post surgical reconstruction), function can be suboptimal due to overactivity in antagonist muscles preventing movement ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/S0012162206000557
更新日期:2006-04-01 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::Two groups of clinically normal newborns, differing in the number of non-optimal factors in their obstetric history, were compared by measuring heart-rate response to a series of auditory stimuli. There was a significant difference between the groups in the direction of the average heart-rate response. The high risk" ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1976.tb03685.x
更新日期:1976-08-01 00:00:00
abstract:AIM:The aim of this study was to describe systematically the best available intervention evidence for children with cerebral palsy (CP). METHOD:This study was a systematic review of systematic reviews. The following databases were searched: CINAHL, Cochrane Library, DARE, EMBASE, Google Scholar MEDLINE, OTSeeker, PEDr...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/dmcn.12246
更新日期:2013-10-01 00:00:00
abstract::The purpose of this study was to compare the cumulative efficacy (three treatment sessions) of botulinum toxin A (BTX-A) alone, casting alone, and the combination of BTX-A and casting in the management of dynamic equinus in ambulatory children with spastic cerebral palsy (CP). Thirty-nine children with spastic CP (mea...
journal_title:Developmental medicine and child neurology
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:
更新日期:2005-09-01 00:00:00
abstract::Surface electromyography and accelerometry provide essential information on the neurophysiological characteristics of essential tremor. There are many reports on neurophysiological features in adult-onset essential tremor, but to our knowledge there have been no similar investigations of essential tremor in children. ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162203001130
更新日期:2003-09-01 00:00:00
abstract:AIM:To describe behavioural and psychiatric outcomes of children within 10 years of convulsive status epilepticus (CSE). METHOD:Children originally identified by the population-based North London Convulsive Status Epilepticus in Childhood Surveillance Study were followed-up between July 2009 and February 2013. They we...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.13636
更新日期:2018-04-01 00:00:00
abstract:AIM:The aim of this study was to compare the approximate number system acuity in children born extremely preterm aged 6 years 6 months and typically developing, age-matched peers. METHOD:This population-based follow-up study included 65 children born before 27 gestational weeks (35 males, 30 females; mean gestational ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.12206
更新日期:2013-12-01 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::Plasticity of visual systems after early brain damage has been extensively studied in animal models but poorly documented in children after visual pathway lesions. This report describes the visual recovery of a male child who had a bilateral occipital lobe infarction at the age of 2 years 6 months, 10 days after colon...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2008.02044.x
更新日期:2008-04-01 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
abstract::We report a longitudinal, prospective, multicentre cohort study designed to measure the outcomes of gastrostomy tube feeding in children with cerebral palsy (CP). Fifty-seven children with CP (28 females, 29 males; median age 4y 4mo, range 5mo to 17y 3mo) were assessed before gastrostomy placement, and at 6 and 12 mon...
journal_title:Developmental medicine and child neurology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1017/s0012162205000162
更新日期:2005-02-01 00:00:00
abstract:AIM:To compare neurophysiological parameters of central nervous system excitability in healthy children/adolescents with those of healthy adults. METHOD:Two experimental protocols were used in 19 healthy children/adolescents (10 males and 9 females, mean age 9y 11mo [SD 2y 9mo], range 5-15y) and 19 healthy adults (8 m...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.13072
更新日期:2016-08-01 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::Brainstem auditory evoked potentials (BAEPs) were recorded from 48 children with language disorders (aged four to nine years old, IQs normal to borderline, normal audiometric thresholds and attending special school) and 20 healthy children (four to eight years old, with normal IQs, audiometry and school-level). The la...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1994.tb11762.x
更新日期:1994-01-01 00:00:00
abstract::Five children (three males, two females; four right-, one left-handed; age range 6 to 14 years) who developed aphasia after gross-total excision of left predominantly thalamic tumors are reported. Three patients had Broca aphasia, one had mixed transcortical aphasia, and one patient had conduction aphasia. In the mont...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162200001109
更新日期:2000-09-01 00:00:00
abstract::Although its cause, jaundice in the newborn, is extremely common, the disabling neurological disorder kernicterus is very rare. Kernicterus may be prevented by selecting those infants who are at risk of extreme jaundice or who may be particularly vulnerable to bilirubin neurotoxicity. Because the tools for achieving t...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/j.1469-8749.2011.04059.x
更新日期:2011-09-01 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 systematic review was to investigate the effects of functional gait training on walking ability in children and young adults with cerebral palsy (CP). METHOD:The review was conducted using standardized methodology, searching four electronic databases (PubMed, Embase, CINAHL, Web of Science) for rel...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,meta分析,评审
doi:10.1111/dmcn.13708
更新日期:2018-09-01 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:AIM:In female children with drug-resistant seizures and developmental delay from birth, atypical Rett syndrome caused by mutations in the CDKL5 gene should be considered. Several clinical features resemble classic Rett syndrome. Respiratory and sleep abnormalities are frequently present in Rett syndrome, whereas little...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2012.04432.x
更新日期:2013-05-01 00:00:00
abstract::Four boys with the combination of infantile autism and the fragile-X syndrome were given oral folic acid and placebo, according to a double-blind crossover design. One boy's behaviour appeared to improve on folic acid, but another boy did not seem to be affected at all. For the remaining two boys the results were equi...
journal_title:Developmental medicine and child neurology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1469-8749.1986.tb03905.x
更新日期:1986-10-01 00:00:00
abstract::Epilepsy has a significant impact on a child's life, the extent to which is based on four factors: epilepsy, cognition, behavioral, and physical/neurologic function. This study evaluates the ability of the 44-item Impact of Childhood Neurologic Disability Scale (ICND) to assess each of these four realms. Parents of ch...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162203000306
更新日期:2003-03-01 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::Extra-articular subtalar arthrodesis with cancellous bone graft and internal fixation was performed on 20 feet of 12 children with myelomeningocele, whose average age at operation was 7.4 years. Indication for surgery was progressive hindfoot valgus deformity causing difficulty in fitting orthoses. At average follow-u...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1991.tb05112.x
更新日期:1991-03-01 00:00:00
abstract::This study assessed stability of measurement of quality of life (QOL) and health-related quality of life (HRQOL) over the course of 1 year among 185 adolescents (mean age 16y, SD 1 y 9 mo) with cerebral palsy (CP). Participants were classified on the Gross Motor Function Classification System as level I (n=55), II (n=...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2008.03053.x
更新日期:2008-09-01 00:00:00
abstract::Periventricular nodular heterotopia (PNH) is a rare neuronal migration disorder in which immature neurons fail to undergo a directed migration from the ventricular and subventricular zones to the cerebral cortex. Classic PNH occurs predominantly in females and is associated with periods of epilepsy and near-normal int...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2007.00219.x
更新日期:2007-03-01 00:00:00
abstract:AIM:To examine cross-sectional differences in patterns of daily physical activity accumulation between preschool children at risk for developmental coordination disorder (DCD) compared to typically developing children. METHOD:In total, 514 children (292 males, 222 females; 4-5y) were recruited as part of the Coordinat...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.14237
更新日期:2019-11-01 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