Abstract:
:The authors report the results of two EEG studies on adult patients with phenylketonuria (PKU) who had been treated early. Part I: the authors followed the EEGs of 34 PKU patients from birth to age 21. The frequency of abnormal EEG findings (especially epileptiform activity) steadily increased until age 12, then decreased. IQ correlated significantly with quality of dietary control during follow-up. Part II: frequency analysis of the EEG and neuropsychological testing were performed on eight adult patients after periods of four weeks with low and high levels of phenylalanine. Only five patients followed the strict dietary regulations. With high levels of phenylalanine, the dominant peak of EEG background activity shifted to the slower frequency spectrum in all patients; in addition, neuropsychological testing revealed impairment of cognitive function. The significance of different approaches of EEG examinations is discussed with respect to the problems of monitoring PKU patients and the pathogenic mechanisms of CNS damage in phenylketonuria.
journal_name
Dev Med Child Neuroljournal_title
Developmental medicine and child neurologyauthors
Pietz J,Schmidt E,Matthis P,Kobialka B,Kutscha A,de Sonneville Ldoi
10.1111/j.1469-8749.1993.tb11552.xsubject
Has Abstractpub_date
1993-01-01 00:00:00pages
54-64issue
1eissn
0012-1622issn
1469-8749journal_volume
35pub_type
杂志文章abstract::Sixty-nine very-low-birthweight infants out of a population of 923 had cerebral palsy (CP) at an 18-month follow-up. Thirty-nine of these had cranial ultrasound abnormalities in the neonatal period and 30 had normal cranial ultrasounds. The distribution of subtypes of CP differed markedly between the two groups, with ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162200000670
更新日期:2000-06-01 00:00:00
abstract:AIM:The aim of this study was to compare thermal detection and pain thresholds in children with Down syndrome with those of their siblings. METHOD:Sensory detection and pain thresholds were assessed in children with Down syndrome and their siblings using quantitative testing methods. Parental questionnaires addressing...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.12823
更新日期:2015-11-01 00:00:00
abstract::We assessed the architecture of the medial gastrocnemius in nine children (five males, four females; age range 6 to 15 years; mean 10 years 10 months, SD 3 years 6 months) with spastic diplegia by ultrasound imaging before and after a gastrocnemius recession. The children were ambulant (seven independent, one with a p...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162204001124
更新日期:2004-10-01 00:00:00
abstract:AIM:Difficult-to-treat epilepsies and attention-deficit-hyperactivity disorder (ADHD) often co-occur. Because of concerns about the use of stimulants in children with this comorbidity, the impact of ADHD treatment on seizure frequency and severity is not known. This pilot study evaluated the safety and efficacy of meth...
journal_title:Developmental medicine and child neurology
pub_type: 临床试验,杂志文章
doi:10.1111/dmcn.12121
更新日期:2013-07-01 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::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
abstract::The aim of this study was to evaluate cognitive development at the onset of West syndrome (WS) with regard to electroencephalogram (EEG) patterns and visual function. Twenty-five patients (14 males, 11 females) at the onset of spasms (T0) in WS and 2 months later (T1) underwent a full clinical evaluation, including ne...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/S0012162205001593
更新日期:2005-11-01 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::This study examined the characteristics of families which may be more vulnerable than others to the impact of caring for a child with spina bifida. Morbidity and the use of health services were unexpectedly high. The impact on the family was related less to clinical diagnoses than to the characteristics of the child's...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1986.tb03831.x
更新日期:1986-02-01 00:00:00
abstract:AIM:Optimizing movement quality is a common rehabilitation goal for children with cerebral palsy (CP). The new Quality Function Measure (QFM)--a revision of the Gross Motor Performance Measure (GMPM)--evaluates five attributes: Alignment, Co-ordination, Dissociated movement, Stability, and Weight-shift, for the Gross M...
journal_title:Developmental medicine and child neurology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1111/dmcn.12453
更新日期:2014-08-01 00:00:00
abstract:AIM:There are many misconceptions about what constitutes 'quality of life' (QoL). It is often difficult for researchers and clinicians to determine which instruments will be most appropriate to their purpose. The aim of the current paper is to describe QoL instruments for children and adolescents with neurodisabilities...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/j.1469-8749.2009.03324.x
更新日期:2009-08-01 00:00:00
abstract::Central ventilatory dysfunction (CVD) is a significant complication of myelodysplasia with Arnold-Chiari type II defect. The records of 616 patients with myelodysplasia were reviewed and CVD was documented in 35 cases (5.7 per cent): it was the single most common cause of death in this population. There was no signifi...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1989.tb04005.x
更新日期:1989-06-01 00:00:00
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 followin...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1990.tb08530.x
更新日期:1990-12-01 00:00:00
abstract::Cerebral palsy (CP) is a heterogeneous group of neurodevelopmental disorders associated with lifelong motor impairment and disability. Current intervention programmes aim to capitalize on the neuroplasticity of the undamaged part of the brain to improve motor functions, by engaging individuals in active motor learning...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/dmcn.12692
更新日期:2015-04-01 00:00:00
abstract::GLUT1 deficiency syndrome (GLUT1DS, OMIM 606777) is a treatable epileptic encephalopathy resulting from impaired glucose transport into the brain. The essential biochemical finding is a low glucose concentration in the cerebrospinal fluid (CSF; hypoglycorrhachia; mean 1.7 [SD 0.3mmol/L]) in the setting of normoglycaem...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/j.1469-8749.2007.00707.x
更新日期:2007-09-01 00:00:00
abstract::Cerebral palsy (CP) can occur in term infants with or without preceding newborn encephalopathy. We compared the type and severity of CP and associated disability in these two groups. Participants from a population-based case-control study of term newborn encephalopathy were followed up for 6 years and linked to the We...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162205000575
更新日期:2005-05-01 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::This paper considers whether pathological influences affect hand-preference among children with epilepsy or mental retardation, for whom there is no evidence of gross motor defect. Data on two tasks of manual skill were analysed for a group of over 12,000 children. The predicted association between poor skill with the...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1984.tb04434.x
更新日期:1984-04-01 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 review existing guidelines for universal newborn hearing screening (UNHS), identify those that provide comprehensive and clear recommendations on the subject, and provide a brief overview. METHOD:A scoping literature review was performed in PubMed, the Guidelines International Network library, and national guid...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/dmcn.14694
更新日期:2021-01-01 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::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: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: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::The purpose of this study was to analyze retrospectively which neuromotor behaviors in a sample of four-month-old low-birthweight infants were most predictive of later cerebral palsy. The infants were evaluated at four months corrected age on the Movement Assessment of Infants (MAI) and were followed to between three ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1987.tb02511.x
更新日期:1987-08-01 00:00:00
abstract::Somatosensory evoked potentials (SSEPs) are a very sensitive measure of the functional integrity of the neuroaxis, including peripheral and central structures. When used in diagnostic mode they can provide additional information regarding the probable areas of dysfunction. SSEPs were recorded from 44 children (64 feet...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162200001006
更新日期:2000-08-01 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::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
abstract:AIM:The aim of this study was to describe the incidence of morbidities and the prevalence of medical prescriptions in a large Down syndrome population. METHOD:A retrospective cohort study was carried out using the UK Clinical Practice Research Datalink from 1 January 2004 to 31 December 2013. We matched individuals wi...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.12868
更新日期:2016-03-01 00:00:00
abstract::Sixty-seven consecutive patients (59 females, eight males; mean age 13.6 years, age range 8.1 to 18 years) with adolescent idiopathic scoliosis were evaluated for segmental dystonia, thermal and vibratory thresholds, and cortical somatosensory evoked potentials (cSEPs). Clinically, there were no signs of segmental dys...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:
更新日期:2002-02-01 00:00:00