Abstract:
:A large New England family with autosomal dominant familial spastic paraplegia (ADFSP) is described. In a pedigree of 173 family members, 71 affected individuals were identified. 16 cases examined by the authors are described with regard to the natural history of ADFSP in this family, and a staging system for following progress and planning interventions is proposed. Three illustrative cases are presented. In this family, ADFSP was found to have a homogeneous clinical course, with nearly complete penetrance. Onset, with involvement limited to the lower extremities, occurred by three years of age, after which no significant progression was noted. Early, aggressive habilitative care may result in more functional ambulation for the youngest family members.
journal_name
Dev Med Child Neuroljournal_title
Developmental medicine and child neurologyauthors
Cooley WC,Melkonian G,Moses C,Moeschler JBdoi
10.1111/j.1469-8749.1990.tb08530.xsubject
Has Abstractpub_date
1990-12-01 00:00:00pages
1098-104issue
12eissn
0012-1622issn
1469-8749journal_volume
32pub_type
杂志文章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::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::Intrathecal baclofen (ITB) therapy can be very effective in the treatment of intractable spasticity, but its effectiveness and safety have not yet been thoroughly studied in children with cerebral palsy (CP). The aims of this double-blind, randomized, placebo-controlled, dose-finding study were to select children elig...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,随机对照试验
doi:10.1111/j.1469-8749.2007.00654.x
更新日期:2007-09-01 00:00:00
abstract::Two girls with concomitant Goldenhar syndrome (oculo-auriculovertebral spectrum disorder) and autistic disorder are described. One was diagnosed as having Goldenhar syndrome in the first few weeks of life and as having autistic disorder in her fifth year; the other was diagnosed as having Goldenhar syndrome when she w...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1992.tb11405.x
更新日期:1992-11-01 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::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::Occasionally children undergoing cardiac surgery using cardiopulmonary bypass with deep hypothermia and cardiac arrest develop a postoperative syndrome of acute chorea. The authors report the neuropathological findings in two such children surgically treated for congenital heart disease. Examination of the brain showe...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1995.tb11983.x
更新日期:1995-02-01 00:00:00
abstract::Childhood brain development begins before birth, and obstetric management, tests, and technologies designed to diagnose and treat fetal conditions can have an impact on development. Preconception counseling for maternal diabetes and hypertension affect the risk of fetal congenital anomalies and growth restriction. Pat...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/dmcn.14160
更新日期:2019-09-01 00:00:00
abstract::Perinatal hypoxic-ischaemic encephalopathy (HIE) occurs in 1 to 3 per 1000 term births. HIE is not preventable in most cases, and therapies are limited. Hypothermia improves outcomes and is the current standard of care. Yet, clinical trials suggest that 44-53% of infants who receive hypothermia will die or suffer mode...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/dmcn.12730
更新日期:2015-04-01 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 develop a detailed priority list of family-centred rehabilitation goals on the activity level within the International Classification of Functioning, Disability and Health (ICF) chapters d4 'Mobility' and d5 'Self-care' in a paediatric population with a broad range of health conditions. METHOD:Twenty-two months...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.14471
更新日期:2020-04-01 00:00:00
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 th...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1982.tb13674.x
更新日期:1982-10-01 00:00:00
abstract::Associated movements in the contralateral limbs were measured quantitatively for 42 seven- to eight-year-old children who wrote with the right hand. Associated movements of the contralateral homologous muscles systematically increased as a function of the intensity of contraction of the active hand. The associated mov...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1986.tb03856.x
更新日期:1986-04-01 00:00:00
abstract::The use of statistics in medical diagnoses and biomedical research may affect whether an individual may live or die, whether their health is protected or jeopardized. Because society depends on sound statistical practice, all practitioners of statistics, whatever their training or occupation, have social obligations t...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2009.03553.x
更新日期:2010-03-01 00:00:00
abstract:AIM:To estimate the impact of dynamic motor control on treatment outcomes in children with cerebral palsy. METHOD:We used multiple regression on a retrospective cohort of 473 ambulatory children with cerebral palsy who underwent conservative treatment, single-level orthopaedic surgery, single-event multi-level orthopa...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.13126
更新日期:2016-11-01 00:00:00
abstract:AIM:To investigate ataxia rating scales in children for reliability and the effect of age and sex. METHOD:Three independent neuropaediatric observers cross-sectionally scored a set of paediatric ataxia rating scales in a group of 52 healthy children (26 males, 26 females) aged 4 to 16 years (mean age 10y 5mo SD 3y 11m...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.12369
更新日期:2014-06-01 00:00:00
abstract::Monozygotic twin boys with fragile X syndrome underwent thorough genetic, psychiatric, neurological, and language evaluations at 10 years of age. They both demonstrated physical features, speech and language difficulties, social problems, and attentional deficits that characterize the behavioural phenotype of fragile ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162200001420
更新日期:2000-11-01 00:00:00
abstract::Tactile extinction was investigated by the Quality Extinction Test (QET) of Schwartz in 39 patients, 34 of whom had congenital hemiplegia and five early-acquired hemiplegia. Extinction values were significantly higher in hemiplegia patients than in controls and usually contralateral to the side of brain damage, except...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1991.tb14962.x
更新日期:1991-09-01 00:00:00
abstract::The results of a study of a nationally representative sample of disabled children and controls are presented. The findings suggest that although, at any one time, families containing a disabled child are not no more likely to be one-parent families, disabled children do appear to be more likely to experience a spell i...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1986.tb03903.x
更新日期:1986-10-01 00:00:00
abstract::Autism is a behaviourally defined syndrome characterized by disturbances of social interaction and communication and restrictions of behaviour patterns and imagination. The pathogenesis of autism is unknown but it is suspected that a number of genetic factors may be involved. Neurotrophic factors such as insulin-like ...
journal_title:Developmental medicine and child neurology
pub_type: 临床试验,杂志文章
doi:10.1017/s0012162201001116
更新日期:2001-09-01 00:00:00
abstract::A two-month-old child born with marked microcephaly (head circumference 17cm) was found at autopsy to have gliomesodermal tissue replacing the telencephalon (atelencephaly). This finding, together with genital anomalies and hypoplasia of the extremities, suggests arrest at the fifth week of fetal life. The clinical an...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1977.tb07973.x
更新日期:1977-04-01 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::Cross-correlograms between voluntarily active soleus (SOL) and tibialis anterior (TA) motor units were generated from seven control subjects and six subjects with spastic cerebral palsy (CP). Short-duration central peaks were observed in three subjects with spastic diplegia only. All subjects demonstrated reciprocal i...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1996.tb15113.x
更新日期:1996-09-01 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:AIM:Dodd's Model for Differential Diagnosis is one of the available clinical diagnostic classification systems of childhood speech sound disorders. Yet we do not understand the validity of this system beyond clinical samples, precluding its application in epidemiological or population-based research. This study aimed t...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.13993
更新日期:2019-06-01 00:00:00
abstract::The aims of this study were to investigate fine motor skills of children with both attention-deficit-hyperactivity disorder (ADHD) and developmental coordination disorder (DCD) and those of a control group, and to examine the effects of methylphenidate on these skills. A group of 12 children with ADHD-DCD (11 males, o...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/S0012162206000375
更新日期:2006-03-01 00:00:00
abstract::The main aim of the study was to explore the ability of a brief developmental assessment to predict teacher-rated learning and attentional and behavioural skills in the first grade of school at both the group and individual levels. A sample of 394 children (181 males, 213 females) aged 4 years were followed to the age...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2009.03290.x
更新日期:2009-10-01 00:00:00
abstract::The aim of this study was to compare the characteristics of the first demyelinating event between acute disseminated encephalomyelitis (ADEM) and multiple sclerosis (MS). Children with acute demyelinating disease of the central nervous system and an abnormal brain magnetic resonance image (MRI) were studied. Patients ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2008.03136.x
更新日期:2009-06-01 00:00:00
abstract::This study reports on a novel methodology using the V-scope to quantify elbow and shoulder movement in young children with obstetric brachial plexus palsy (OBPP), and the intra- and interreliability of this method. The V-scope, a portable, inexpensive movement analysis system, was configured in an L-shape, with two tr...
journal_title:Developmental medicine and child neurology
pub_type: 临床试验,杂志文章
doi:10.1017/S001216220600199X
更新日期:2006-11-01 00:00:00
abstract::This study surveyed 237 schoolchildren in a lead-polluted industrial area in northern Italy to assess the relationship between various biological indicators (lead in blood, hair and teeth, and delta-aminolevulinic dehydratase [ALA-D] activity) and some neuropsychological functions, assessed by a battery of five psycho...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1989.tb03977.x
更新日期:1989-04-01 00:00:00