Abstract：
OBJECTIVES:To explore the relationship between autistic regression (AR) with and without EEG abnormalities and favourable outcome. METHODS:Follow up data on children with favourable outcome in a series of 534 cases aged below 5 years and diagnosed as ASD. RESULTS:Cases with regression were 167 (31.8%), usually with persistent ASD, intellectual disabilities and EEG abnormalities. Thirty nine children (7.3%) went off autism and recovered entirely their intellectual and social abilities. Few of them included examples of pharmacologically treated Landau and Kleffner syndrome and other similar complex cases with abnormal EEG. The majority was represented by 36 (6.7%) children, mostly males, with a dysmaturational syndrome: their development was initially normal up to 18 months when an autistic regression occurred accompanied by the appearance of motor and vocal tics. Relational therapies were followed by rapid improvement. By 6 years all children had lost features of ASD and their I.Q. was in most cases between 90 and 110. Convulsions were absent and EEG was normal in all cases except one. In a few of them recovery was spontaneous. Seventeen children were followed after 5 years 6 months: 12 (70%) had ADHD, 10 (56%) persistent tics. Tics were often present in parents and relatives, ASD absent, suggesting a genetic background different from cases with persistent ASD. With one exception all "off autism" children had a previous autistic regression. CONCLUSIONS:In this series "off autism" children had either early onset epilepsy and/or EEG abnormalities or cases of dysmaturational syndrome. Autistic regression was present in almost all.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Zappella Mdoi
10.1016/j.braindev.2010.05.004subject
Has Abstractpub_date
2010-10-01 00:00:00pages
739-45issue
9eissn
0387-7604issn
1872-7131pii
S0387-7604(10)00123-3journal_volume
32pub_type
杂志文章abstract：:Norrie disease is an X-linked recessive disorder that is characterized by congenital blindness. Although epileptic seizures are observed in some patients with Norrie disease, little is known about this phenomenon. Here, we report the manifestation of epilepsy in siblings with Norrie disease to increase our knowledge o...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2015.04.004
更新日期：2015-11-01 00:00:00
abstract：:As a treatable cause of CNS dysfunctions in the fetal alcohol syndrome (FAS), low-zinc-status in addition to hypoglycemia has been investigated in experimental rat models. During the premating period female rats of an ethanol group and a control group received 30% ethanol (E) and water (W), respectively. During pregna...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(82)80070-3
更新日期：1982-01-01 00:00:00
abstract：OBJECTIVES:Preterm children with severe dyskinetic cerebral palsy due to bilirubin encephalopathy often suffer from marked generalised hypertonus as they age. We performed a questionnaire survey to investigate patient-reported outcomes of treatments for improving their activities of daily life. METHODS:A mail question...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2020.01.006
更新日期：2020-04-01 00:00:00
abstract：PURPOSE:This study aimed to analyze the topological characteristics of brain structural network in pediatric epilepsy patients with vagus nerve stimulation (VNS) by applying graph theoretical approaches. METHODS:Nine patients with generalized seizures and eight normal controls (NC) were enrolled. Based on diffusion te...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2020.07.006
更新日期：2021-01-01 00:00:00
abstract：:The autopsy report of the juvenile type of metachromatic leukodystrophy is rare. The clinical and pathological difference between the juvenile and the late infantile type of metachromatic leukodystrophy was described. Loss of myelin sheaths was much less in the brain stem and spinal cord in the juvenile type than in t...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(81)80065-4
更新日期：1981-01-01 00:00:00
abstract：:713 children (from newborn to 12-month-old) with delayed motor development were carefully examined and classified into normal, very light cerebral coordination disturbance (CCD, Vojta), light CCD, moderate CCD, severe CCD, suspected cerebral palsy (CP) and other diseases at their first visit, and were followed up care...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(83)80024-2
更新日期：1983-01-01 00:00:00
abstract：:Pelizaeus-Merzbacher-like disease (PMLD) is a hypomyelinating disorder of the central nervous system caused by mutation in the gap junction protein alpha 12 (GJA12) gene. Uniparental disomy (UPD) is defined as the presence of a chromosome pair, in a diploid individual, that derives from only one parent. Here, we analy...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.03.013
更新日期：2010-03-01 00:00:00
abstract：:We investigated the neuroprotective effects of human placental extracts (HPE) and the effects of HPE on recovery of cognitive and behavioral function on hypoxic-ischemic brain injury in the newborn rat. The right common carotid arteries of 7-day-old rats were coagulated, and rats were then exposed to 8% oxygen. Immedi...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.01.009
更新日期：2013-01-01 00:00:00
abstract：:We report a 22-year-old male patient with pharmacoresistant epilepsy, mental retardation and dysmorphisms. Standard cytogenetic analysis revealed a de novo interstitial duplication of the short arm of chromosome 11 (11p). High density array-CGH analysis showed that the rearrangement spans about 35Mb on chromosome 11p1...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.01.003
更新日期：2010-03-01 00:00:00
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：: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
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 stereotyped movement of hands, one of the core symptoms of the Rett syndrome (RS), was analyzed to study the pathophysiology. The development of hand function was delayed after mid-infancy and handedness was undetermined in most cases. Before the onset of the pathognomonic stereotypy, patients showed excessive or ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80170-7
更新日期：1990-01-01 00:00:00
abstract：:Fluorescence in situ hybridization (FISH) of DNA-DNA or DNA-RNA using post-mortem brain samples is one approach to study low-level chromosomal aneuploidy and selective expression of specific genes in the brain of patients with neuropsychiatric diseases. We have performed a pilot molecular-cytogenetic analysis of post-...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00363-1
更新日期：2001-12-01 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：: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：:A study of epileptic drop attacks (EDA) by simultaneous video-polygraphic recordings was carried out in one epileptic patient with myoclonic astatic seizures (Doose syndrome). EDA was shown to correspond to a burst of generalized bilaterally synchronous spike and wave complexes (GBSSW) at 3 Hz. Absence seizures were a...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(93)90070-o
更新日期：1993-05-01 00:00:00
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...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(87)80076-1
更新日期：1987-01-01 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：BACKGROUND:Multifocal motor neuropathy (MMN) is an acquired immune-mediated form of neuropathy characterized by upper and asymmetric limb weakness without sensory loss. The mean age of onset is 40 years (range, 20-70 years), and childhood-onset MMN is extremely rare. In the present report, we discuss a case of childhoo...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2019.08.013
更新日期：2020-01-01 00:00:00
abstract：OBJECTIVE:To analyze the electroclinical features of children with childhood absence epilepsy (CAE) and discuss the diagnostic criteria for CAE. METHODS:The video-electroencephalogram (VEEG) database in our hospital was searched using "absence seizures" and "3-Hz generalized spike and waves (GSW)" as key-words. Other ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.02.004
更新日期：2011-02-01 00:00:00
abstract：:Ring chromosome 20 [r(20)] syndrome is a rare chromosomal disorder that is characterized by the development of refractory epilepsy during childhood with gradual declines in cognitive performance and behavior. Although the prognoses of seizures and intellectual disability associated with this condition are poor, life-t...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2016.02.013
更新日期：2016-09-01 00:00:00
abstract：OBJECTIVE:We aimed to examine (1) the prevalence and characteristics of ADHD in preschool children, and (2) differential diagnoses among children who display symptoms of inattention and hyperactivity-impulsivity in early childhood. METHODS:The participants were children living in Kanie-cho, in Japan's Aichi Prefecture...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2013.11.004
更新日期：2014-10-01 00:00:00
abstract：:In 1908 a Viennese remedial educator Theodor Heller described six children under the name of dementia infantilis who had insidiously developed a severe mental regression between the 3rd and 4th years of life after normal mental development. Neuropathological and other medical conditions are sometimes associated with t...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(02)00228-0
更新日期：2003-06-01 00:00:00
abstract：PURPOSE:Ictal fear is an uncommon condition in which fear manifests as the main feature of epileptic seizures. The literature has suggested that ictal fear is generally associated with poor seizure outcomes. We wanted to clarify the variability in seizure outcome of children with ictal fear. SUBJECTS AND METHODS:We id...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2013.11.011
更新日期：2014-10-01 00:00:00
abstract：BACKGROUND:Acute disseminated encephalomyelitis (ADEM) is clinically characterized by the acute onset of neurological symptoms after a viral infection or immunization, and is thought to represent an autoimmune disease directed against myelin. Tau protein is a phosphorylated microtubule-associated protein, primarily loc...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.11.013
更新日期：2014-01-01 00:00:00
abstract：:Head angular stability is essential for postural control in whole body movement. Using the opto-electronic ELITE system, we have studied head orientation during the movements of squatting from the standing position and straightening-up from the squatting position in 12 children with spastic diplegia and 12 age-matched...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(99)00123-0
更新日期：2000-03-01 00:00:00
abstract：:Three cases of Lesch-Nyhan syndrome (LNS) were examined by polysomnography to assess the brainstem function, and to determine the causes of the neurological manifestations and sudden death in this syndrome. In the two older cases, the amount of slow wave and rapid eye movement (REM) sleep, the REM density and the freq...
journal_title：Brain & development
pub_type： 临床试验,杂志文章
doi：10.1016/s0387-7604(98)00052-7
更新日期：1998-12-01 00:00:00
abstract：:Germ cell tumors originating in the posterior fossa are very rare. Described herein is a case of primary germ cell tumor (yolk sac tumor) found in the cerebellar vermis. A 5-year-old boy who complained of headache was admitted. CT and MRI revealed a tumor with diffuse enhancement by contrast medium in the right cerebe...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(94)90128-7
更新日期：1994-09-01 00:00:00
abstract：:Autism spectrum disorders (ASD) are manifest as impairments in social interaction, language and speech development, and the appearance of repetitive behaviors with restricted interests. Motor impairments in individuals with ASD have been categorized as "associated symptoms". The objective of this study was to describe...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2007.03.002
更新日期：2007-10-01 00:00:00
