Abstract：
:Six females with Rett syndrome (RS)--all seriously motor disabled with clinical symptomatology indicating not only brain but also spinal cord impairment--were investigated using auditory and somatosensory evoked responses techniques. In all patients the responses representing the pathways through the upper spinal cord were delayed suggesting an impairment of the central conduction time. The findings mean an involvement of the sub-cortical structures, the brain stem and the cervical spinal cord in the disease process. From the natural clinical course and the present findings, it is concluded that RS is also characterized by spinal cord impairment appearing with increasing age and stage of diseases.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Badr GG,Witt-Engerström I,Hagberg Bdoi
10.1016/s0387-7604(87)80076-1subject
Has Abstractpub_date
1987-01-01 00:00:00pages
517-22issue
5eissn
0387-7604issn
1872-7131pii
S0387-7604(87)80076-1journal_volume
9pub_type
杂志文章abstract：:To study the efficacy of adrenocorticotrophic hormone (ACTH) in treating Taiwanese children with West syndrome (WS) and the impact on long-term prognosis, 66 patients with WS (54 symptomatic and 12 cryptogenic) were collected from 1987 to 1998 in a medical center in Taiwan. A total of 53 patients were enrolled in this...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2005.07.002
更新日期：2006-04-01 00:00:00
abstract：:Hypoxic ischemic brain can result in cerebral palsy, mental retardation, and learning disabilities in surviving children. The purpose of this study was to elucidate the cerebral blood flow volume in infants complicated with brain damage after the birth. Nine term infants with hypoxic ischemic encephalopathy and 41 nor...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2007.08.008
更新日期：2008-04-01 00:00:00
abstract：BACKGROUND:Aromatic l-amino acid decarboxylase (AADC) deficiency (OMIM #608643) is a rare and severe disorder of biogenic amine synthesis caused by mutations in the DDC gene. The phenomenology of the movement disorder includes intermittent oculogyric crises and limb dystonia, generalized athetosis, and impaired volunta...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.08.003
更新日期：2019-02-01 00:00:00
abstract：:Over the past 10 years mutations in voltage-gated sodium channels (Na(v)s) have become closely associated with inheritable forms of epilepsy. One isoform in particular, Na(v)1.1 (gene symbol SCN1A), appears to be a superculprit, registering with more than 330 mutations to date. The associated phenotypes range from ben...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/j.braindev.2008.07.011
更新日期：2009-02-01 00:00:00
abstract：:The clinical profile of 33 children (19 boys, 14 girls) with multiple congenital contractures has been studied. The majority (54%) belong to arthrogryposis multiplex congenita with a static clinical course. Children were classified into three groups: group I (limb involvement only; n = 21) having arthrogryposis multip...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(96)00557-8
更新日期：1997-04-01 00:00:00
abstract：:The diagnosis of fragile X A syndrome (FRAXA) during childhood depends largely on DNA-based diagnostic tests due to the lack of the specific clinical features. To determine a non-invasive screening method for fragile X syndrome, we studied the method of DNA-based diagnosis using urine or hair roots instead of routinel...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2003.11.002
更新日期：2004-09-01 00:00:00
abstract：:In the present study, we investigated age-related changes in pteridine levels and enzymatic activity responsible for tetrahydrobiopterin biosynthesis in mouse tissues. Until about 15 weeks after the birth, the remarkable change of tetrahydrobiopterin (BH4) was observed in all tissues tested. Between 20 and 50 weeks af...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(00)00144-3
更新日期：2000-09-01 00:00:00
abstract：:We report the case of a girl with Tay-Sachs disease who had convulsions and deteriorated rapidly after an upper respiratory infection at the age of 11 months. At the age of 16 months, her seizures became intractable and magnetic resonance imaging of the brain showed high signal intensity on T2-weighted images and mark...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.01.007
更新日期：2010-03-01 00:00:00
abstract：:Forty-eight subjects with Tourette syndrome (M 36, F 12; mean age 11.2 years) and 48 with chronic tic disorder (M 33, F 15; mean age 12.1 years) were recruited in order to study the vertical transmission within families of a vulnerability to tic disorders or to other psychiatric disorders, the role of adverse pre- and...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2004.09.007
更新日期：2005-08-01 00:00:00
abstract：:This report describes a 60-year-old female patient with Krabbe disease who presented with slowly progressive gait disturbance due to mild spastic paraplegia. Brain magnetic resonance imaging showed high-intensity lesions along the upper parts of the bilateral pyramidal tracts in fluid-attenuated inversion recovery ima...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.08.004
更新日期：2013-06-01 00:00:00
abstract：BACKGROUND:Children with epilepsy often show some degree of cognitive impairment. In this study, we investigated their learning skills to clarify the characteristics of the difficulties related to learning in Japanese-speaking children with focal epilepsy. METHODS:The study included 13 boys and 17 girls of mean age 9....
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2020.06.004
更新日期：2020-10-01 00:00:00
abstract：:A 10-year-old boy with psychomotor developmental delay and cerebellar vermis atrophy developed right hemiplegia with vomiting, unconsciousness, convulsions, and late-onset fever. Slow delta activity was noted over the left hemisphere on electroencephalography, and neuroimaging revealed swelling of the left temporo-occ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2011.11.002
更新日期：2012-09-01 00:00:00
abstract：:In a patient with holoprosencephaly, partial seizures had various initial ictal symptoms, and ictal EEGs showed epileptogenic foci in the right and left brain. Partial seizures did not culminate in secondary generalized tonic-clonic convulsions. Characteristic malformed structures contribute to the absence of secondar...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00217-0
更新日期：2001-07-01 00:00:00
abstract：BACKGROUND:Congenital hypothyroidism is the most common reason of mental retardation, and normal neurological development can be provided by early and effective treatment. In this present study, it is aimed to compare neurological developments of patients in 6-42 months of age with congenital hypothyroidism and healthy...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.07.003
更新日期：2013-05-01 00:00:00
abstract：:The syndrome of brain atrophy in girls described by Andreas Rett in 1966 [Rett, Wien Klin Wochenschr, 1966;116:723-726] was brought to the attention of the English-speaking world by Hagberg et al. in 1983 [Hagberg et al., Ann Neurol, 1983;14:471-479]. Four clinical stages after the age of 6 months were described in cl...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(01)00335-7
更新日期：2001-12-01 00:00:00
abstract：:Bedside monitoring of cerebral circulation or oxygen metabolism in infants to appropriately manage circulation and establish the oxygen dose, aiming at improving the neurological prognosis, is needed in general clinical practice. Near-infrared spectroscopy is used for measurements of neonatal cerebral Hb oxygen satura...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/j.braindev.2013.05.011
更新日期：2014-04-01 00:00:00
abstract：:The severity of intellectual sequelae and prognosis varies in patients with congenital ocular motor apraxia (COMA). Here, we explored this phenomenon with regard to the accompanying oculomotor signs and gross motor development, as well as the subtentorial structure defects. Ten patients diagnosed with COMA (M:F=4:6, 4...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2007.01.002
更新日期：2007-08-01 00:00:00
abstract：:154 patients with a mean age of 6 years 1 month were followed on valproate monotherapy for a period ranging from 5 to 27 months (mean 22 months). Absence epilepsies, benign myoclonic epilepsies and epilepsies with tonic-clonic seizures on awakening were the best controlled, followed by benign partial epilepsies and in...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(86)80119-x
更新日期：1986-01-01 00:00:00
abstract：:A 14-year-old female had repeated vomiting, headache, abdominal pain, visual field deficit and lethargy at the onset of hypertensive encephalopathy. Cerebrospinal fluid (CSF) test revealed a high level of IgG and protein. MRI demonstrated no supratentorial cerebral lesions but hyperintense lesions were observed from t...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.07.002
更新日期：2010-08-01 00:00:00
abstract：OBJECTIVE:Autonomic nervous system activity is recognized as a major component of emotional responses. Future reward/punishment expectations depend upon the process of decision making in the frontal lobe, which is considered to play an important role in executive function. The aim of this study was to investigate the r...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.03.004
更新日期：2017-08-01 00:00:00
abstract：:Typical Cockayne syndrome was seen in a boy and his younger sister and these two cases are reported here, and reported cases of the syndrome in Japan are summarized. Both cases (an 11-year-old boy and a 7-year-old girl) had dwarfism, a senile face, retinitis pigmentosa, photosensitivity, and mental retardation. Calciu...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(79)80046-7
更新日期：1979-01-01 00:00:00
abstract：:We describe two brothers with isolated Dandy-Walker malformation (DWM). Interestingly, brain stem dysgenesis and abnormal gyral pattern were also observed in the sibs. They presented with psychomotor retardation and macrocrania. Both suffered from hypotonia with brisk deep tendon reflexes and ataxic gait. They had bil...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.01.009
更新日期：2006-09-01 00:00:00
abstract：:Phelan-McDermid syndrome (PMS) is a 22q13.3 deletion syndrome. Most PMS patients show global developmental delay and some of them suffer from developmental regression. The deleted region contains ARSA, which is responsible for metachromatic leukodystrophy (MLD). Here we report an extremely rare case of PMS characteriz...
journal_title：Brain & development
pub_type：
doi：10.1016/j.braindev.2020.02.003
更新日期：2020-05-01 00:00:00
abstract：OBJECTIVE:This study used quantitative analysis to determine whether increased variability in fetal heart rate (FHR) is related to the risk of developing periventricular leukomalacia (PVL). METHODS:We analyzed 124 FHR traces of neonates delivered preterm at 27-33 weeks' gestation to 105 mothers. FHR traces 1-3h before...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2015.08.008
更新日期：2016-02-01 00:00:00
abstract：:Continuous and simultaneous registration of electroencephalogram (EEG) and heart rate (HR) pattern in preterm infants can give information about the functioning of central nervous system and the integrity of the autonomic nervous system. The developmental and behavioural state determine the pattern of EEG activity. A ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2005.01.007
更新日期：2005-12-01 00:00:00
abstract：AIM:To report on two children with encephalopathy caused by dietary thiamine deficiency due to newly developing nutritional problems in contemporary Japan. SUBJECTS:A 1-year-old boy who had consumed 1l of isotonic drinks per day for 4 months after an episode of diarrhea, and presented with ocular movement disorder, dy...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.08.004
更新日期：2010-08-01 00:00:00
abstract：:Blink reflex can be elicited by sudden strong auditory stimulation. Using a special transducer wer recorded this reflex which appears as a microvibration of the eyelid, and named it auditory-evoked eyelid microvibration (AMV). As the reflex pathway of AMV exists in the brainstem, AMV is an easy and useful way of knowi...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(84)80009-1
更新日期：1984-01-01 00:00:00
abstract：:Griscelli syndrome is a rare autosomal-recessive disorder characterised by partial albinism, immunodeficiency, organomegaly and accelerated phases. During accelerated phases, pancytopenia, haemophagocytosis, hypoproteinemeia occur which may be accompanied by neurological deterioration. Primary neurological presentatio...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.09.007
更新日期：2007-05-01 00:00:00
abstract：:Immaturity in water and electrolyte balance in the brain has been considered to increase the susceptibility of young animals and children to febrile convulsions (FCs). Arginine-vasopressin (AVP) is involved in the regulation of several centrally mediated events such as modulation of fever and the ease with which water...
journal_title：Brain & development
pub_type： 临床试验,杂志文章
doi：10.1016/0387-7604(95)00146-8
更新日期：1996-03-01 00:00:00
abstract：:The relationship between febrile seizures and hippocampal sclerosis has been the subject of longstanding discussion. Animal models for prolonged seizures have shown a clear causal relationship with focal limbic features at low dose and hippocampal damage at high dose. Careful history taking of febrile seizure semiolog...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/j.braindev.2009.09.013
更新日期：2010-01-01 00:00:00
