Abstract:
:Six children with morphological hair-shaft abnormalities and neurological disease are presented, including two with Pollitt syndrome, one with biotin deficiency, two with Menkes diseases and one with argininosuccinic aciduria. The child with biotin deficiency grew normal hair following oral biotin therapy. Although the hair-shaft abnormalities may be seen with light microscopy (LM), they are best visualised with scanning electron-microscopy (SEM). Pili torti may be mistaken for monilethrix by LM, but SEM shows the true defect. A review of the literature shows that these hair-shaft abnormalities (trichorrhexis nodosa, monilethrix and pili torti) are not specific or pathognomonic, but do indicate a group of neurological disorders, including potentially treatable inborn errors of metabolism. The term 'neurotrichosis' is suggested to classify this group of disorders.
journal_name
Dev Med Child Neuroljournal_title
Developmental medicine and child neurologyauthors
Coulter DL,Beals TF,Allen RJdoi
10.1111/j.1469-8749.1982.tb13674.xsubject
Has Abstractpub_date
1982-10-01 00:00:00pages
634-44issue
5eissn
0012-1622issn
1469-8749journal_volume
24pub_type
杂志文章abstract::Two newborn infants who suffered severe intra-uterine anoxia a few weeks before birth are described. Both died shortly after being born spontaneously and slightly prematurely. In one case the mother had attempted suicide by inhaling butane. The infant's kidneys were hypoplastic and resembled those seen in renal dyspla...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1982.tb13658.x
更新日期:1982-08-01 00:00:00
abstract::Thirty-five schoolchildren who share a common history of early undernutrition and who were reared after recovery by adoptive families (16), in institutional care (eight) or by their biological families (11) were assessed for physical and intellectual outcome. The adopted children had mean normal weight and height for ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1992.tb11492.x
更新日期:1992-07-01 00:00:00
abstract::There is evidence that in early embryos, mechanisms exist for the control of the movement of monovalent ions; that sodium is extruded during gastrulation and neurulation, and that in two- to three-day-old chick embryos with head abnormalities, ratios of sodium to potassium may be abnormally high. It is suggested that ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1975.tb04968.x
更新日期:1975-02-01 00:00:00
abstract:AIM:to improve understanding of brain function in children with severe dyslexia in terms of minor neurological dysfunctions (MNDs). METHOD:one hundred and four children (81 males, 23 females; age range 7-12y; mean age 9y 7mo, SD 1y 2mo;) with severe dyslexia (the presence of a Full-scale IQ score of ≥ 85, retardation ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2010.03712.x
更新日期:2010-12-01 00:00:00
abstract::Parental report may provide an inexpensive alternative to standardized assessments of children's development. We have adapted and validated a parental questionnaire on cognitive development for use with very preterm infants. Sixty-four 2-year-olds (28 males, 36 females) born less than 30 weeks' gestation (median 28.5 ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162204000635
更新日期:2004-06-01 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::Three seizure types have been described in the neonate: electroclinical, electrographic, and clinical only. Controversy still exists about whether the episodic abnormal movements seen in some infants, which are not accompanied by simultaneous ictal discharges on the EEG, are true seizures. Twenty-four infants with sei...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162299001632
更新日期:1999-12-01 00:00:00
abstract::Lesions composed of Pacinian corpuscles or showing Pacinian corpuscle differentiation have usually been described in relation to benign tumours of the peripheral nervous system or reactive hyperplastic processes. On the other hand, mature Pacinian corpuscles have occasionally been detected as part of intraspinal lumbo...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/S0012162206002180
更新日期:2006-12-01 00:00:00
abstract::A case of theophylline neurotoxicity in a three-month-old infant is reported. Prolonged focal seizures with secondary generalization resulted in hemiparesis and developmental retardation, and CT demonstrated cerebral hemiatrophy. Later the infant developed recurrent focal and atonic convulsions, which were refractory ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1985.tb03775.x
更新日期:1985-04-01 00:00:00
abstract::Three cases of 'vertical' hydrocephalus are described, characterised by absence of the bones of the skull vault, progressive vertical soft-tissue growth of the head, and normal occipito-frontal head circumference. The management of the condition by ventriculo-peritoneal shunt is discussed, and a theory proposed as to ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1979.tb01657.x
更新日期:1979-08-01 00:00:00
abstract::Neurological integrity in sick children is difficult to assess clinically. The aim of this study was to determine the predictive value of EEG activity recorded with a bedside EEG analysing monitor in an intensive care unit. EEG activity was monitored in 108 children (age range 2 weeks to 16 years, median 1.7 years) co...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162201000159
更新日期:2001-02-01 00:00:00
abstract::This paper reports a total population-based cohort study of over 500 surviving children born in 1974, 1975 and 1976, who were identified as having been a low birthweight (less than 200g). The prevalence of cerebral palsy (CP) diagnosed by age six years was compared for groups who had various antenatal and perinatal at...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:
更新日期:1986-10-01 00:00:00
abstract:AIM:This systematic review investigated the availability of assessment tools to evaluate bimanual skills in young children (< or = 3y) with hemiplegic cerebral palsy. Evidence for validity, reliability, and clinical utility of the identified instruments was sought. METHOD:Ten electronic databases and grey literature w...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/j.1469-8749.2009.03561.x
更新日期:2010-05-01 00:00:00
abstract::The purpose of this study was to investigate the relationship between aspiration, as identified by videofluoroscopic swallowing (VFS) study, and pneumonia in children with suspected dysphagia. Data were retrospectively collected and analysed from 142 children referred for VFS over a one-year period. The median age was...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1994.tb11879.x
更新日期:1994-06-01 00:00:00
abstract::The purpose of this study was to report patients with pharmacoresistant West syndrome of unknown cause whose magnetic resonance imaging (MRI) with diffusion weighted imaging (DWI) showed a transient decrease of diffusion in subcortical structures. Of 20 patients investigated over a 2-year period, three males and three...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2007.02017.x
更新日期:2008-02-01 00:00:00
abstract:AIM:Early sucking and swallowing problems may be potential markers of neonatal brain injury and assist in identifying those infants at increased risk of adverse outcomes, but the relation between early sucking and swallowing problems and neonatal brain injury has not been established. The aim of the review was, therefo...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/j.1469-8749.2012.04318.x
更新日期:2012-09-01 00:00:00
abstract::Of 2002 randomly selected pregnant women recruited prospectively over a three-year period for an extensive questionnaire survey, a stratified subsample of 665 mothers was selected for mother-infant follow-up on the basis of pre-pregnancy alcohol intake. Infant outcome was assessed by detailed clinical examination and ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1991.tb14796.x
更新日期:1991-10-01 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::The purpose of this cross-sectional descriptive study was to describe the particular types of behavioral problems, self-concept, and symptoms of depression experienced by children with both low IQ and epilepsy. Three groups of children (83 males, 81 females; mean age 11 years 10 months, SD 1 year 10 months; age range ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162203001270
更新日期:2003-10-01 00:00:00
abstract::We describe four children with dysmorphic syndrome with severe learning disability (SLD). Their chromosomes had been normal on conventional cytogenetic examination. However, screening using a multiprobe fluorescence in situ hybridisation (FISH) technique for subtelomeric abnormalities revealed a deletion of the p arm ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162200000347
更新日期:2000-03-01 00:00:00
abstract::Modified Gubbay tests, assessing various aspects of motor performance, were administered to 885 Manchester children in mainstream primary education, and centile tables were drawn up by age. Children who had performed badly on one of the four tests were retested two years later, when they were found to have 'caught up'...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1987.tb08509.x
更新日期:1987-10-01 00:00:00
abstract::The developmental level and nutritional status of a group of 17 children aged between six and 24 months who were admitted to hospital with severe protein-energy malnutrition were studied from admission to hospital until 36 months after returning home. They were compared with a group of 14 adequately nourished children...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1982.tb13624.x
更新日期:1982-06-01 00:00:00
abstract:AIM:Atypical migraine with aura can be challenging to diagnose. Arterial-spin-labelling (ASL) is able to non-invasively quantify brain perfusion. Our aim was to report cerebral blood flow (CBF) alterations using ASL, at the acute phase of atypical migraine with aura in children. METHOD:Paediatric patients were retrosp...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.13123
更新日期:2016-09-01 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::High rates of neurological complications related to congenital HIV infection have been reported, but often it has been difficult to delineate those clinical impairments specifically related to viral infection of the developing nervous system. The present study attempted to hold causative environmental factors constant...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1990.tb08123.x
更新日期:1990-11-01 00:00:00
abstract::This study examined the social and academic implications of mainstream, mainstream and special (combined) or special-class education for 31 adolescents with spina bifida, and for their primary caretakers. The Peabody Picture Vocabulary Test and the UCLA Loneliness Scale (adolescents) and the Personality Inventory for ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1990.tb08463.x
更新日期:1990-01-01 00:00:00
abstract::Fine motor skills are related to functioning in daily life and at school. We reviewed the status of knowledge, in preterm children, on the development of fine motor skills, the relation with gross motor skills, and risk factors for impaired fine motor skills. We searched the past 15 years in PubMed, using ['motor skil...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/dmcn.12297
更新日期:2013-11-01 00:00:00
abstract:AIM:To evaluate short-term (1y postoperatively; E1) and long-term (at least 4y postoperatively; E2) changes in hamstring muscle-tendon length (MTL) and lengthening velocity after hamstring lengthening in children with bilateral cerebral palsy (CP). METHOD:Three-dimensional gait analysis was performed in 19 children (1...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.14097
更新日期:2019-07-01 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::Individuals with congenital adrenal hyperplasia (CAH) provide a test population for the theory that elevated testosterone levels alter prenatal brain development and increase the risk of learning disabilities. Eleven subjects with CAH, five of their non-CAH siblings and 16 matched control subjects participated in two ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1996.tb15100.x
更新日期:1996-05-01 00:00:00