Abstract:
:Homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency may present with variable neurological manifestations. Radiological features include white matter changes (leukoencephalopathy). Clinical, biochemical, and radiological response to treatment may again be variable. Here we present a 12-year follow-up of two siblings on the same treatment regimen, with contrasting long-term findings. The first patient, a female presenting at 15 years, showed a good clinical response, substantial intellectual gain, and complete reversal of leukoencephalopathy. Her brother presented at 13 years 9 months and showed limited clinical and cognitive improvement with persistence of the leukoencephalopathy. Both siblings showed a partial biochemical response to treatment.
journal_name
Dev Med Child Neuroljournal_title
Developmental medicine and child neurologyauthors
Tallur KK,Johnson DA,Kirk JM,Sandercock PA,Minns RAdoi
10.1017/s0012162205000095subject
Has Abstractpub_date
2005-01-01 00:00:00pages
53-6issue
1eissn
0012-1622issn
1469-8749journal_volume
47pub_type
杂志文章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::A 16-year-old girl with severe mental retardation of unknown aetiology presented with increased blood content of lactate and pyruvate. It was demonstrated that the biochemical abnormalities were due to hyperventilation. ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1976.tb03633.x
更新日期:1976-04-01 00:00:00
abstract::In order to investigate flexor hypertonia of the extremities in newborns, a neurological examination and superficial electromyogram (EMG) recordings were carried out on 50 full-term infants both before and after the first 48 hours of life (the 'birth-shock period). EMG amplituds on the flexor side of the upper arm in ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1975.tb03495.x
更新日期:1975-08-01 00:00:00
abstract::An 11-year old girl is described who acquired conduction aphasia after head trauma. Detailed study of her repetition defect showed that it was because of impaired short-term verbal memory. CT scan showed two hypodense areas in the left hemisphere, which included the supramarginal gyrus and Wernicke's area. This case i...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1987.tb02514.x
更新日期:1987-08-01 00:00:00
abstract::A prospective 14-year outcome study of two children meeting DSM-IV criteria for childhood disintegrative disorder is presented. Their ages at first evaluation were 4 years 7 months and 6 years 3 months. Both are now adults and continue to have a severe pervasive developmental disorder, mental retardation, seizure diso...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1998.tb12331.x
更新日期:1998-10-01 00:00:00
abstract::It has been suggested that there is a positive epidemiological correlation between the rates of premature delivery and intra-uterine growth retardation. This was tested across three series of live births, cross-classified according to gravidity and mother's age in two states, North Carolina (caucasians and blacks), an...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1982.tb13701.x
更新日期:1982-12-01 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: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::Blood and saliva were collected from 48 children, aged three to 17 years, before a morning dose of carbamazepine and then at three, six and eight hours afterward. There was no significant difference in the ratio of 10-11 epoxy-carbamazepine to total carbamazepine for children on carbamazepine alone (0.18) and those on...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1986.tb03922.x
更新日期:1986-12-01 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::Returning ventilator-dependent children to the home environment has become a well-accepted occurrence. The success of a home program depends on careful pre-discharge planning in order to ensure the child's medical safety, and adequate preparation to ensure the child's and family's adjustment to an active community lif...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1992.tb11388.x
更新日期:1992-10-01 00:00:00
abstract::Approximately six hours of biofeedback training was given to eight fecally incontinent children with myelomeningocele in order to establish bowel control. Their ages ranged from five to 15 years. The patients were shown a polygraph tracing of the external anal sphincter while they were being encouraged voluntarily to ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:
更新日期:1981-06-01 00:00:00
abstract::This research examined family stress and sibling reactions in families of children with 5p- (cri du chat) syndrome aged 1 to 18 years who were living at home. In Study 1, 99 parents reported on themselves and their child with 5p-, as well as on family demographics, social supports, and stress. The best predictor of fa...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1997.tb07378.x
更新日期:1997-11-01 00:00:00
abstract::Cerebral palsy (CP) is a complex disorder and children frequently have multiple impairments. Dystonia is a particularly frustrating impairment that interferes with rehabilitation and function and is difficult to treat. Of the available treatments, deep brain stimulation (DBS) has emerged as an option with the potentia...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/dmcn.14295
更新日期:2020-01-01 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::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::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::Current information was obtained from 117 respondents, including 71 who completed interviews, of a population of 810 individuals who had been diagnosed with cerebral palsy between 1951 and 1974. Original chart reviews constituted the basis for predicting employment capabilities of the interviewed cohort. A comparison ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1995.tb11954.x
更新日期:1995-11-01 00:00:00
abstract::Two South Indian Hindu children with typical clinical features compatible with Tay-Sachs disease are presented. The identification of GM2 as the major ganglioside in the lipid extract of rectal biopsy helped to confirm the clinical diagnosis. ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1975.tb03475.x
更新日期:1975-04-01 00:00:00
abstract::Converging evidence indicates that motor deficits in cerebral palsy (CP) are related not only to problems with execution, but also to impaired motor planning. Current rehabilitation mainly focuses on alleviating compromised motor execution. Motor imagery is a promising method of training the more 'cognitive' aspects o...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/j.1469-8749.2009.03371.x
更新日期:2009-09-01 00:00:00
abstract::A population-based group of 27 children with total blindness due to retinopathy of prematurity (ROP), born in Sweden from 1980 to 1990, was examined. They constituted all but two of the total of 29 children with total blindness due to ROP known to the national register of visually impaired children when reviewed from ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1998.tb15439.x
更新日期:1998-03-01 00:00:00
abstract:AIM:The aim of this study was to assess health-related quality of life (HRQOL) following a stationary cycling intervention in children with cerebral palsy (CP). METHOD:This was a phase I multisite randomized controlled trial with single blinding. HRQOL was evaluated using the Pediatric Quality of Life Inventory SF15 (...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1111/j.1469-8749.2012.04321.x
更新日期:2012-07-01 00:00:00
abstract:AIM:To conduct a longitudinal follow-up of the development of global cognitive abilities and adaptive skills in individuals with congenital and childhood forms of myotonic dystrophy type 1 (DM1). METHOD:Fifty-one participants (29 males, 22 females, mean age 19y 5mo, SD 4y 11mo, range 10y 10mo-28y 11mo) were divided in...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.14161
更新日期:2019-10-01 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::Duchenne muscular dystrophy (DMD) is a progressive pediatric disorder that affects both muscle and brain. Children with DMD have mean IQ scores that are about one standard deviation lower than population means, with lower Verbal IQ than Performance IQ scores. For the present study, verbal skills and verbal memory skil...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2007.00123.x
更新日期:2007-02-01 00:00:00
abstract::According to previous case reports, some congenital abnormalities (CAs) of the brain, such as microcephaly, are a result of intrauterine herpes simplex virus infection. A population-based case-control study was conducted to determine the risk of neural tube defects (NTDs) after maternal herpes labialis infection durin...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/S0012162206001411
更新日期:2006-08-01 00:00:00
abstract:AIM:In children with Friedreich ataxia (FRDA), ataxia is assessed using the surrogate marker the International Cooperative Ataxia Rating Scale (ICARS). We aimed to determine whether ICARS scores in children with FRDA are confounded by muscle weakness. METHOD:In 12 children with FRDA (10 males, two females; mean age 13...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2011.03931.x
更新日期:2011-06-01 00:00:00
abstract:AIM:The aim of this study was to gain insights, from the perspectives of both parents and pediatric therapists, into the experiences of children learning to use a power mobility device. METHOD:The purposive sample included 33 participants: 14 parents of children who were learning, or had learned, to use a power mobili...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.13906
更新日期:2018-10-01 00:00:00
abstract::A child with lobar holoprosencephaly presented with spastic diplegia and mild mental retardation, compounded by attention deficits and hyperactivity. His facial features were normal, and except for borderline microcephaly, there were no other predictors of holoprosencephaly. This patient represents the mild end of the...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1988.tb14565.x
更新日期:1988-06-01 00:00:00
abstract::Anxiety disorders are a leading cause of morbidity and entail a lot of costs. Adolescence is characterized by social fears and poor emotion regulation abilities which together increase the likelihood of the emergence of anxiety disorders. This emotion dysregulation is potentially caused by the emotion regulating brain...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/dmcn.14611
更新日期:2020-11-01 00:00:00