Abstract：
:The British Isles Survey for Rett has registered 1,159 cases over up to 20 years. Indicators of health and severity, recorded at intervals throughout life, are drawn from clinical examinations, reports and postal questionnaires. This study aimed to establish the stability and predictive value of an early severity score based on muscle tone, locomotor ability, feeding difficulty, scoliosis and epilepsy. Data from people with clinically documented classic or non-classic Rett and health records over 20-30 years indicate that severity scores tend to increase throughout the first 15 years and then to stabilise in mild and severe, classic and non-classic Rett. Severity scores before regression reflect later severity scores within relatively wide inter-quartile ranges. In general, the adult severity level is around 40 points above the pre-regression level for classic Rett and around 20 points for non-classic Rett. High early severity scores are associated with reduced cumulative survival. Used with caution, early signs are helpful in diagnosis and prognosis. The mutations T158M, R255X and R168X are generally associated with more severe and R306C and R133C with less severe disease but exceptions make these unreliable predictors of outcome.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Kerr AM,Prescott RJdoi
10.1016/j.braindev.2004.10.007keywords:
subject
Has Abstractpub_date
2005-11-01 00:00:00pages
S20-S24eissn
0387-7604issn
1872-7131pii
S0387-7604(05)00127-0journal_volume
27 Suppl 1pub_type
杂志文章abstract：:This is the first case report on the diagnosis of spinal cord injury due to hemorrhage during the neonatal period using magnetic resonance imaging (MRI). Somatosensory evoked potentials are also helpful in the functional demonstration of this lesion. When discrepant signs, alert consciousness and intact cranial nerves...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(94)90114-7
更新日期：1994-01-01 00:00:00
abstract：INTRODUCTION:Neuroimaging studies demonstrate that not only the lesions of malformations of cortical development (MCD) but also the normal-appearing parenchyma (NAP) present metabolic impairments, as revealed with (1)H-MRS. We have previously detected biochemical disturbances in MCD lesions with phosphorus-31 magnetic ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2013.12.010
更新日期：2014-11-01 00:00:00
abstract：:The aim of this study is to clarify the characteristics of ictal EEG findings of neonatal seizures in preterm infants. Seizures associated with ictal EEG changes were recognized in nine infants with gestational age of less than 37 weeks. Propagation, migration, shifting, changes in morphology of ictal EEG discharges w...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2007.08.011
更新日期：2008-04-01 00:00:00
abstract：:This report concerns a 6-year-old girl who showed peculiar symptoms but responded favourably to L-dopa. She developed normally until around 1 year of age, at which time head instability, hypotonia, increased deep tendon reflexes and choreoathetotic movements developed. These symptoms appeared to worsen in the afternoo...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80299-3
更新日期：1991-01-01 00:00:00
abstract：:A 1-year-old male began suffering from West syndrome at 3 months of age, when electroencephalography revealed hypsarrhythmia accompanied by a periodic, brief suppression phase. The administration of adrenocorticotropic hormone was partially effective for stopping the condition, and the seizure type evolved into brief ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.05.002
更新日期：2013-03-01 00:00:00
abstract：:Sixty patients (age-range one month to 14 years) with other types of epilepsy than infantile spasms were treated with clonazepam. Disappearance of seizures and normalization of abnormal EEG with disappearance of seizures were recognized in 77% and 50%, respectively. Seizures disappeared in 71% of the patients with gen...
journal_title：Brain & development
pub_type： 杂志文章
doi：
更新日期：1985-01-01 00:00:00
abstract：:We describe three patients with the limb pain of complex regional pain syndrome (CRPS) in childhood with autonomic nervous system function involvement. Their autonomic nerve abnormality was non-invasively examined by means of laser doppler flowmetry (LDF) and a sympathetic skin response (SSR) test. In one it was resol...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(00)00174-1
更新日期：2000-10-01 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：:Alexander disease is a major entity of leukodystrophy; magnetic resonance imaging (MRI) studies of the brain typically show extensive changes in the cerebral white matter with frontal predominance. Heterozygous missense mutations of GFAP are thought to be sufficient for the molecular diagnosis, which has widened the A...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.10.007
更新日期：2011-08-01 00:00:00
abstract：:The development of the human inferior collicular nucleus was studied on serial sections of the brains of 9 fetuses at 12-34 weeks of gestation and an adult of 63 years using an electronic planimeter with a computer. Morphometric analysis of the development of the inferior collicular nucleus showed that its development...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(95)00089-5
更新日期：1996-01-01 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：:Patients with germline phosphatidylinositol glycan biosynthesis class A (PIGA) related disorder have historically been categorized into one of two distinct subtypes: a severe form which is often fatal, and a less severe form. However, the increasing number of cases with features indicative of both subtypes raise the p...
journal_title：Brain & development
pub_type：
doi：10.1016/j.braindev.2019.10.002
更新日期：2020-02-01 00:00:00
abstract：BACKGROUND:Takuto Rehabilitation Center for Children is located in Sendai, the capital of the Miyagi prefecture, and faces the Pacific Ocean. The tsunami caused by the Great East Japan Earthquake resulted in tremendous damage to this region. Many physically handicapped patients with epilepsy who are treated at our hosp...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2016.01.005
更新日期：2016-08-01 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：:The aim of this research was to compare the Strengths and Difficulties Questionnaire (SDQ) scores and subscale scores in children with high-functioning autism spectrum disorder (HFASD) and attention-deficit/hyperactivity disorder (AD/HD), and also to clarify the differences between parent- and teacher-assessed SDQ sco...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.09.009
更新日期：2010-09-01 00:00:00
abstract：:Cutis laxa (CL) syndromes are connective tissue disorders characterized by redundant, sagging, inelastic and wrinkled skin, with organ involvement. Here, we describe a patient with ALDH18A1-related CL who developed cyclic vomiting. The patient was a 12-year-old boy who presented with poor postnatal growth, hypotonia, ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2016.01.003
更新日期：2016-08-01 00:00:00
abstract：:The neuropathological examination of the brain of a 4-month-old girl with Aicardi syndrome (infantile spasms, chorioretinal lacunae, psychomotor retardation, agenesis of the corpus callosum and vertebral anomalies) showed agenesis of the corpus callosum, agenesis of the anterior commissure and abnormal orientation of ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(86)80097-3
更新日期：1986-01-01 00:00:00
abstract：:The purpose of this study was to clarify the risk factors of relapse following discontinuation of AEDs in patients with childhood-onset cryptogenic localization-related epilepsies. The subjects were 82 patients who fulfilled the following criteria: (1) age at first visit of less than 15 years, (2) follow-up period of ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(03)00089-5
更新日期：2004-01-01 00:00:00
abstract：:The sleep patterns of children often cause anxiety to their parents. Some disturbances are unusual, and therefore may cause diagnostic difficulties. Sleep walking and night terrors can be confused with epileptic seizures. The sudden sleep of narcolepsy can lead to false accusations, when in fact the episodes are beyon...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(12)80262-2
更新日期：1992-05-01 00:00:00
abstract：:Potassium bromide was tried for two children with daily convulsive focal motor seizures with unconsciousness and focal motor seizure status. The treatment resulted in complete cessation of the attacks. It has been reported that bromide is effective for generalized tonic-clonic seizures and not for complex partial seiz...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(02)00023-2
更新日期：2002-04-01 00:00:00
abstract：:MRI of a female patient with xeroderma pigmentosum group A (XP-A) showed progressive cerebral atrophy, but no disease-specific lesion. MR spectroscopy with short TE sequences in the bilateral white matter revealed decreased N-acetyl aspartate (neuro-axonal marker) and increased myo-inositol (astroglial marker) with a ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.06.013
更新日期：2018-11-01 00:00:00
abstract：BACKGROUND AND PURPOSE:Bottom shuffling is a locomotion strategy that precedes independent walking in some infants. Shuffling babies are generally considered to have favorable outcomes. The aim of the present study was to reveal clinical features and neurodevelopmental outcomes of shuffling babies who visited a child d...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2020.08.007
更新日期：2021-02-01 00:00:00
abstract：:Rett syndrome (RTT) is a neurodevelopmental disorder that is one of the most common causes of mental retardation in females. RTT diagnosis is based on distinct clinical criteria. We describe here a female patient with severe phenotype of congenital variant RTT. The patient originally presented with severe developmenta...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2011.09.014
更新日期：2012-08-01 00:00:00
abstract：:Although hypothalamic hamartomas (HHs) have been shown to be intrinsically epileptogenic and to participate in the generation of gelastic seizures, no evidence has been reported regarding its contribution to the pathogenesis of infantile spasms. We describe a male infant with Pallister-Hall syndrome who had a large HH...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.09.003
更新日期：2010-09-01 00:00:00
abstract：INTRODUCTION:Primary generalized dystonia is a rare movement disorder. Medical treatment rarely relieves symptoms. The aim of this study was to investigate the efficacy and safety of bilateral pallidal stimulation in 6 children and adolescents with primary generalized dystonia. In addition, we strived to find predictor...
journal_title：Brain & development
pub_type： 临床试验,杂志文章
doi：10.1016/j.braindev.2009.03.010
更新日期：2010-03-01 00:00:00
abstract：OBJECTIVE:Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder (1:125.000) characterized by growth retardation, psychomotor developmental delay, microcephaly and dysmorphic features. In 25% of patients seizures have been described, and in about 66% a wide range of EEG abnormalities, but studies on neurologica...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2015.12.003
更新日期：2016-06-01 00:00:00
abstract：INTRODUCTION:Primary pseudotumor cerebri (PTC) in childhood is a rare but important differential diagnosis in children presenting with papilledema. It is defined as elevated cerebrospinal fluid (CSF) pressure of more than 20 cm H(2)O, normal CSF composition, and exclusion of underlying structural or systemic causes. Vi...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2005.07.003
更新日期：2006-04-01 00:00:00
abstract：:Several new histological findings in six cases of the trisomy D1 syndrome are described: hyperplasia of fetal structures (indusium griseum, median raphe of the medulla oblongata) and completely developed cerebellar cortical heterotopia in the dentate nucleus. In one case, a heterotopic pontine nucleus was found within...
journal_title：Brain & development
pub_type： 杂志文章
doi：
更新日期：1980-01-01 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 purpose of this study is to elucidate the interrelation between the M and F wave characteristics of the median nerve and the grip power in patients with spinal muscular atrophy (SMA). The SMA patients showed decreased amplitudes of the M and F waves, decreased frequency of the F wave, and an increase of the F/M ra...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(97)00098-3
更新日期：1998-01-01 00:00:00
