Abstract:
:Children with mild developmental delay without dysmorphic features do not often have identifiable underlying aetiological factors. We report on a 5-year-old girl with mild developmental delay and dysmorphic features which were previously unrecognized. She was found to have supernumerary ring chromosome 19 mosaicism which was the likely cause of her clinical problems. Her parents' chromosomes were normal. A careful examination for dysmorphic features should be done in all children with developmental delay. However, these may not be readily apparent in babies and very young children. Chromosomal analysis to identify a genetic cause and to offer genetic counselling should be considered in all such children unless the clinician is absolutely certain that there are no dysmorphic features.
journal_name
Dev Med Child Neuroljournal_title
Developmental medicine and child neurologyauthors
Vaz I,Larkins SA,Norman A,Green SHdoi
10.1017/s0012162299000092subject
Has Abstractpub_date
1999-01-01 00:00:00pages
48-50issue
1eissn
0012-1622issn
1469-8749journal_volume
41pub_type
杂志文章abstract:AIM:We compared the clinical utility of magnetic resonance angiography (MRA) to catheter cerebral angiography (CA) in the investigation of children with suspected central nervous system (CNS) vasculitis. METHOD:Single-centre retrospective review of children with a suspected diagnosis of CNS vasculitis studied with bot...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2009.03591.x
更新日期:2010-09-01 00:00:00
abstract::A case-control study (64 cases and 209 controls) was carried out to identify risk factors for the co-occurrence of early-onset partial epilepsy, cerebral palsy and mental retardation in children with and without cerebral malformations. History of epilepsy in first-degree relatives, maternal diseases in the two years b...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1995.tb12061.x
更新日期:1995-09-01 00:00:00
abstract::The objective of this study was to estimate the prevalence of autistic spectrum disorder (ASD) and identify its clinical characterization, and medical conditions in a paediatric population in Portugal. A school survey was conducted in elementary schools, targeting 332,808 school-aged children in the mainland and 10,91...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2007.00726.x
更新日期:2007-10-01 00:00:00
abstract:AIM:Language lateralization with functional transcranial Doppler sonography (fTCD) and lexical word generation has been shown to have high concordance with the Wada test and functional magnetic resonance imaging in adults. We evaluated a nonlexical paradigm to determine language dominance in children. METHOD:In 23 rig...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2009.03362.x
更新日期:2010-04-01 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::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 explore cortical activation during bimanual tasks and functional correlates in unilateral cerebral palsy (CP). METHOD:This cross-sectional study included eight participants with unilateral CP (six females, two males; mean age [SD] 20y 10mo [5y 10mo], 13y 8mo-31y 6mo) in Manual Ability Classification System leve...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.14458
更新日期:2020-05-01 00:00:00
abstract::The relation between neurodevelopmental status at one and eight years of age was investigated in a cohort of 207 infants born between 1979 and 1982 at < 33 weeks of gestation. The probability of a major disabling impairment at eight years was only 1 per cent among 164 children with normal neurodevelopment at one year,...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1994.tb11808.x
更新日期:1994-12-01 00:00:00
abstract:AIM:To investigate the underlying factor structure of the 46-item Flemish cerebral visual impairment (CVI) questionnaire, differentiate the factor scores of children with and without CVI, and examine the impact of comorbidities on factor scores. METHOD:The records of 630 children (386 males, 244 females; median age 77...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.14448
更新日期:2020-08-01 00:00:00
abstract::Following the observation that many children with kwashiorkor had a deprived look in their eyes, the guardians of 107 children with kwashiorkor and 111 controls were interviewed about their home life, in a survey made at New Mulago Hospital, Kampala, between 1969 and 1972. A child's age, sex and tribe were found to ha...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1979.tb01630.x
更新日期:1979-06-01 00:00:00
abstract::This case series aimed to characterize the clinical features, management, and outcomes of apnea in infants with trisomy 18. Participants in this study were infants with trisomy 18 who were born alive and admitted to the neonatal intensive care unit in Kyushu University Hospital from 2000 to 2018. Retrospective analysi...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.14403
更新日期:2020-07-01 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::Transdermal scopolamine may be used to reduce drooling in children with disabilities. Side-effects include dilated pupils and a reduction in the near point of accommodation (the closest point at which clear vision is possible). Two male children with epilepsy, one with spinal dysraphism (aged 7y 6mo) and one with cere...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/S0012162206000296
更新日期:2006-02-01 00:00:00
abstract:AIM:Research funds for cerebral palsy are scarce and competition for them is strong. This study aimed to identify questions for future research that were agreed to be a high priority. METHOD:An expert panel of consumers, researchers, and clinicians was assembled (n=127) and surveyed using a Delphi survey comprising th...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2009.03358.x
更新日期:2010-03-01 00:00:00
abstract::In four generations of a family with autosomal dominant hyperekplexia (startle disease), untreated affected adult members had pes cavus and extensor plantar responses, as well as hyper-reflexia. Electroencephalography during a startle, electromyography, nerve conduction velocities and somatosensory evoked potentials w...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1996.tb12144.x
更新日期:1996-08-01 00:00:00
abstract::We describe the development and preliminary psychometric testing of the Daily Activities of Infants Scale (DAIS), a parent-completed measure of opportunities parents provide infants for development of postural control and movement. First we obtained 1300 photographs of typical activities from 17 families with infants ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2008.03007.x
更新日期:2008-08-01 00:00:00
abstract::Two male patients (a child and an adult) with congenital mirror movement were studied using functional MRI (fMRI) and transcranial magnetic stimulation (TMS). Bilateral primary sensorimotor cortices were activated during unilateral hand gripping on fMRI when the child patient was 8 years old andthe adult was 37 years ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162201003012
更新日期:2002-12-01 00:00:00
abstract::Although autism can occur in conjunction with a range of other conditions, the association with Down syndrome is generally considered to be relatively rare. Four young boys with Down syndrome are described who were also autistic. All children clearly fulfilled the diagnostic criteria for autism required by the ICD-10 ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1995.tb12024.x
更新日期:1995-05-01 00:00:00
abstract::Background factors of developmental outcome in a group of 386 neonatal 'at-risk' infants and 107 controls were examined in a prospective nine-year follow-up study. Dichotomized outcome variables were computed for each of the assessments; neurodevelopmental, motor, psycholinguistic, cognitive and school progress. In th...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1988.tb04795.x
更新日期:1988-10-01 00:00:00
abstract:AIM:The aim of this study was to assess the role of disability and victimization in young people's participation in developmentally salient activities by analyzing a nationally representative group of young people from the child welfare system (CWS). METHOD:Data were obtained from interviews with young people and thei...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.12678
更新日期:2015-06-01 00:00:00
abstract::The comorbidity of seizures, epilepsy, and attention-deficit-hyperactivity disorder (ADHD) prompted the examination of whether atomoxetine use for ADHD is associated with an increased risk of seizures. Seizures and seizure-related symptoms were reviewed from two independent Eli Lilly and Company databases: the atomoxe...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2007.00498.x
更新日期:2007-07-01 00:00:00
abstract::Progressive calcification of the brain and the spinal cord at early infantile onset was observed in two siblings. They showed growth failure, psychomotor deterioration, deafness, vestibular dysfunction, microcytic hypochromic anemia, abnormal ratios of lymphocyte subpopulations, and slightly decreased bicarbonate on b...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1997.tb07410.x
更新日期:1997-03-01 00:00:00
abstract::Three cases with sensory peripheral neuropathies are reported. Case 1 presented with scoliosis, and cases 2 and 3 presented with abnormal gait. None had trophic limb changes, evidence of weakness, or a tendency to self-mutilation and each had normal motor studies on neurophysiological testing. Sural nerve biopsies sho...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1990.tb16915.x
更新日期:1990-02-01 00:00:00
abstract::Dynamic electromyography was used to examine the activity of muscles of 26 children with varus hindfoot deformities as a result of spastic cerebral palsy. Four different patterns of inappropriate muscle activity involving the tibialis anterior, tibialis posterior, gastrocnemius and soleus were seen during walking. Dyn...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1984.tb04411.x
更新日期:1984-02-01 00:00:00
abstract::The study aim was to quantify melatonin-associated improvement in sleep by means of a parent-completed sleep diary during routine outpatient activity. An investigation into sleep disturbance was made at neurology outpatient appointments. Those parents who identified a problem were asked to complete a sleep diary, afte...
journal_title:Developmental medicine and child neurology
pub_type: 临床试验,杂志文章
doi:10.1017/s0012162201002171
更新日期:2002-05-01 00:00:00
abstract:AIM:To estimate the impact of different types of language disorders on socio-emotional development and health-related quality of life (HRQOL) in 8-year-old children. METHOD:In a prospective cohort including 13 427 newborns, of 10 911 eligible children (66 excluded because of intellectual disability or foreign language...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2010.03794.x
更新日期:2011-01-01 00:00:00
abstract:AIM:The aim of this cross-sectional study was to provide normative data for motor proficiency (motor performance and contralateral associated movements [CAMs]) in typically developing children between 3 years and 18 years of age using an updated version of the Zurich Neuromotor Assessment (ZNA-2). METHOD:Six-hundred a...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.13793
更新日期:2018-08-01 00:00:00
abstract:AIM:To determine factors associated with acquisition of a sitting position in patients with spinal muscular atrophy type 1 (SMA1) treated with nusinersen. METHOD:Using data from the registry of patients with SMA1 treated with nusinersen, we compared the subgroups of sitters and non-sitters after 14 months of therapy a...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.14412
更新日期:2020-03-01 00:00:00
abstract::Total ophthalmoplegia is described in an eight-year-old boy with polyradiculitis. The findings suggest central nervous system involvement. It is postulated that this case represents an entity intermediate between the Miller-Fisher and the Landry-Guillain-Barré syndromes, with features of brain-stem encephalitis. ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1976.tb03659.x
更新日期:1976-06-01 00:00:00
abstract::This study investigated the effect of chronic exposure to lead on children's ability to maintain upright postural balance as a biological marker of lead-induced modifications of the neuromotor system. For this study, 162 six-year-old children, with a five-year geometric mean lead concentration in blood of 11.9 microgr...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1995.tb11939.x
更新日期:1995-10-01 00:00:00