Abstract:
BACKGROUND:Rett syndrome is a severe genetic neurodevelopmental disorder mainly affecting females. The aim of this study was to describe pubertal development in a population-based cohort of females with Rett syndrome. METHODS:To assess pubertal trajectory we used six waves of data provided by parents of girls and women, recruited through the Australian population-based Rett Syndrome Database. The age at which adrenarche, thelarche or menarche occurred was used as the parameter for time to event (survival) analysis. The relationships between BMI, mutation type and the trajectories were investigated, using Cox proportional hazards. RESULTS:One quarter of girls reached adrenarche by 9.6 years, half by 11 years and three quarters by 12.6 years. Half reached menarche by 14 years (range 8-23). Being underweight was associated with later age at adrenarche, thelarche and menarche, while higher BMI (overweight) was associated with earlier onset. In general, girls with C-terminal deletions and early truncating mutations reached pubertal stages earlier and those with the p.R168X mutation reached them later. CONCLUSION:The pubertal course in Rett syndrome may be abnormal, sometimes with early adrenarche but delayed menarche. These features may be genotype dependent and may have varying relationships with growth and bone acquisition.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Knight O,Bebbington A,Siafarikas A,Woodhead H,Girdler S,Leonard Hdoi
10.1016/j.braindev.2012.11.007subject
Has Abstractpub_date
2013-11-01 00:00:00pages
912-20issue
10eissn
0387-7604issn
1872-7131pii
S0387-7604(12)00283-5journal_volume
35pub_type
杂志文章abstract::Recent advances in modern technologies have enabled us to investigate higher brain functions non-invasively in human subjects. These techniques include topographic analysis of the scalp-recorded electric potentials, recording of the magnetic field generated from the brain, measurement of regional cerebral blood flow c...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/0387-7604(93)90081-i
更新日期:1993-11-01 00:00:00
abstract:BACKGROUND:Guillain-Barré syndrome and myasthenia gravis both lead to muscle weakness but the two combined is uncommon. Detection of these entities can help identify forms of autoimmune neuromuscular diseases that may respond to immunotherapy. This report sought to characterize the clinical features of these two entiti...
journal_title:Brain & development
pub_type: 杂志文章
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journal_title:Brain & development
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更新日期:2016-08-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2014.04.002
更新日期:2015-02-01 00:00:00
abstract::We report seizures induced by adrenocorticotropic hormone (ACTH), which were demonstrated clinically and electro-encephalographically, in a severely handicapped 7-month-old infant with West syndrome due to perinatal hypoxicischemic encephalopathy. Although tonic spasms (original seizures) decreased soon after starting...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(89)80063-4
更新日期:1989-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(03)00004-4
更新日期:2003-08-01 00:00:00
abstract:PURPOSE:Many factors have been studied as potential predictors of recurrent febrile seizures (FS), however the available data in literature are inconsistent. The aim of the present paper is to determine which factors are responsible for the first and for multiple recurrences of FS, in a large sample of children with a ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2007.05.001
更新日期:2008-01-01 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
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2018.01.012
更新日期:2018-06-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2012.02.005
更新日期:2014-02-01 00:00:00
abstract::We examined seizure, cognitive, and motor outcomes in patients with Rasmussen syndrome or Rasmussen encephalitis (RS), after recent initiation of immunomodulatory therapies. Among 53 patients with a diagnosis of RS referred from all over Japan, 49 patients (male 22, female 27) with symptoms and findings characteristic...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2013.01.010
更新日期:2013-09-01 00:00:00
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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
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::This is the first study to report differences between Japanese children with and without dyslexia in the way string-length and lexicality effects are manifested when reading Japanese kana. These children were asked to read kana words and non-words consisting of either two or five kana characters. The results showed th...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2011.09.005
更新日期:2012-06-01 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
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80154-9
更新日期:1992-09-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2004.02.015
更新日期:2005-03-01 00:00:00
abstract::A 10-year-old male patient, who had suffered from intractable convulsions from the neonatal period, is presented. Serial brain images suggested slow, gradual destruction of neural elements. Human cytomegalovirus (HCMV) DNA was detected in his cerebrospinal fluid (CSF) by means of the polymerase chain reaction. Intrath...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(93)90086-n
更新日期:1993-11-01 00:00:00
abstract::Cerebral palsy (CP) is a group of movement and posture disorders attributed to insults in the developing brain. In rats, CP-like motor deficits can be induced by early hind-limb sensorimotor restriction (SR; from postnatal days P2 to P28), associated or otherwise with perinatal anoxia (PA; on P0 and P1). In this study...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.04.016
更新日期:2010-04-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(01)00269-8
更新日期:2001-11-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2018.09.005
更新日期:2019-02-01 00:00:00
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journal_title:Brain & development
pub_type: 临床试验,杂志文章
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更新日期:1999-09-01 00:00:00
abstract::Cystic lesions of the posterior fossa remain a controversial subject as to clinical classification and diagnosis, especially for those in combination with other intracranial abnormalities. During the period of November 1985 to June 1991, 16 patients with cystic lesions of the posterior fossa were retrospectively revie...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(95)00067-4
更新日期:1995-11-01 00:00:00
abstract::The correlation between the functional and morphological maturation of the auditory pathway was studied in preterm and term infants, children and adults. As to the auditory brainstem response (ABR), peak latencies and I-V interpeak latencies (central transmission) gradually decreased during the third trimester and the...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(87)80092-x
更新日期:1987-01-01 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::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:Epilepsy with myoclonic absences (EMA) is a rare childhood-onset syndrome characterized by absences of responsiveness accompanied by bilateral rhythmic clonic-like myoclonic jerks. Herein, we describe the case of a child with EMA, resistant to multiple commonly used antiepileptic drugs, in whom low-dose phen...
journal_title:Brain & development
pub_type:
doi:10.1016/j.braindev.2020.12.018
更新日期:2021-01-15 00:00:00
abstract::MeCP2 is a protein that selectively binds to methylated cytosines through its methyl-CpG-binding domain (MBD) and connects DNA methylation to transcriptional repression. Mutations in MECP2 gene, located in Xq28, have been reported as being the major cause of Rett syndrome and are also associated with some cases of X-l...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.09.012
更新日期:2007-06-01 00:00:00
abstract:OBJECTIVE:To investigate the clinical and neurophysiological characteristics, particularly therapeutic considerations, of epileptic negative myoclonus (ENM) in atypical benign partial epilepsy (ABPE) of childhood. METHODS:From 1998 to 2006, 14/242 patients with benign children epilepsy with centrotemporal spikes (BECT...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2008.04.004
更新日期:2009-04-01 00:00:00
abstract::We report on a 9-year-old boy who presented with acute encephalopathy and hemophagocytic lymphohistiocytosis (HLH). The patient was referred to our hospital because of fever, seizures, and decreased consciousness. He showed moderately elevated levels of proinflammatory cytokines in the cerebrospinal fluid and plasma, ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2011.07.005
更新日期:2012-05-01 00:00:00