Abstract:
BACKGROUND:Rett syndrome is characterized by psychomotor regression during early childhood, autistic-like behaviors, and aberrant breathing patterns. Dysfunction of the serotonergic system has been postulated to play a role in the pathophysiology of these symptoms. PATIENT DESCRIPTION:We present an 11-year-old girl with Rett syndrome who exhibited marked respiratory symptoms, including frequent apneic events during sleep. She had been treated for these respiratory symptoms using noninvasive positive pressure ventilation since age six years. Treatment with serotonin 1A receptor agonist was initiated at age eight years, whereas treatment using a selective serotonin reuptake inhibitor began at age nine years. Noninvasive positive pressure ventilation therapy was effective in reducing symptoms of sleep apnea, and administration of serotonergic agents resulted in amelioration of sleep apneic events even in the absence of noninvasive positive pressure ventilation. In addition, improvements in hand stereotypy and social skills were observed after initiation of serotonin-based therapy. DISCUSSION:The respiratory difficulties our patient experienced during non-rapid eye movement (REM) sleep are characteristic of post-sigh central apnea. Exaggerated activity of expiratory neurons during such apneic events has been observed in mouse models of Rett syndrome. We suggest that prescribed serotonergic agents might serve to inhibit such activity, attenuating the imbalance between inspiratory and expiratory neurons. These agents might also be useful in the treatment of autistic-like behaviors caused by impaired serotonergic transmission in the brain.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Ohno K,Saito Y,Ueda R,Togawa M,Ohmae T,Matsuda E,Fujiyama M,Maegaki Ydoi
10.1016/j.pediatrneurol.2016.03.016subject
Has Abstractpub_date
2016-07-01 00:00:00pages
54-59.e1eissn
0887-8994issn
1873-5150pii
S0887-8994(16)30064-9journal_volume
60pub_type
杂志文章abstract::As part of the implementation of a population-based registry of children with cerebral palsy, caregiver satisfaction with the process by which diagnosis was originally communicated by a professional was assessed. Satisfaction with various aspects of the diagnosis process was assessed using a five-point Likert scale an...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2006.07.006
更新日期:2006-12-01 00:00:00
abstract:BACKGROUND:Weight loss is one of the most frequent side effects of topiramate treatment. The aim of our study was to investigate the effect of topiramate on body mass index, serum glucose, insulin, cortisol, leptin, and neuropeptide-Y levels and the role of these variables on the pathogenesis of weight loss in prepuber...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2014.05.001
更新日期:2014-08-01 00:00:00
abstract::Forty patients with Sturge-Weber syndrome were studied over a 26-year period. The nevus flammeus was unilateral in 27 patients (twice as often on left side) and bilateral in 13 patients. Only 3 of these 13 patients had bilateral cerebral lesions. Seizures, most of which were focal, were present in 32 patients (80%). T...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(93)90064-j
更新日期:1993-07-01 00:00:00
abstract::Three siblings, devoid of hair at birth, had an unusual autosomal recessive disorder characterized by universal congenital alopecia, microcephaly, seizures, psychomotor retardation, and severe growth failure. Metabolic and chromosome studies were normal. Skin biopsies disclosed immature hair follicles, some of which w...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/0887-8994(87)90037-3
更新日期:1987-03-01 00:00:00
abstract:BACKGROUND:Rituximab (anti-CD20) has been used as B-cell-targeted intervention to treat opsoclonus-myoclonus syndrome. Due to isolated reports of chronic hypogammaglobulinemia and B lymphopenia following rituximab in several disorders, and rapid B-cell depletion after a few doses, we reduced the dosage 20% in our clini...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2018.05.003
更新日期:2018-08-01 00:00:00
abstract::A 16-month-old girl with a history of Prader-Willi syndrome and progressive macrocephaly manifested large, bilateral, subdural hemorrhages of differing ages on magnetic resonance imaging. Subsequent evaluation revealed a deficiency of von Willebrand factor, but after repeated evaluations, no conclusive evidence of non...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.pediatrneurol.2012.03.011
更新日期:2012-07-01 00:00:00
abstract::We report on a previously healthy 11-year-old boy with unilateral periorbital mild headache and facial nerve palsy, followed during the next 5 months by recurrent unilateral headaches and subsequent extrinsic paresis of the third cranial nerve and paresis of the sixth cranial nerve, each of which improved with steroid...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2010.08.018
更新日期:2011-01-01 00:00:00
abstract::To explore the mechanisms of central nervous system involvement in children with Henoch-Schönlein purpura, levels of lupus anticoagulant, anticardiolipin antibodies, and anti-β2 glycoprotein I antibodies in serum and cerebrospinal fluid were determined in 46 cases of Henoch-Schönlein purpura with central nervous syste...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2012.05.024
更新日期:2012-09-01 00:00:00
abstract::A young child with Hallervorden-Spatz syndrome is presented. She was well until 8 years of age when she lost interest in activities and her school performance declined. At age 11 years, she began having episodes of blepharospasm, accompanied by bilateral ptosis and occasional episodes of oculogyric crisis. By age 12 y...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(90)90030-5
更新日期:1990-09-01 00:00:00
abstract::Pseudotumor cerebri is a clinical syndrome characterized by increased intracranial pressure in the absence of an intracranial tumor. It is most frequently diagnosed in obese young women, but it is also reported in children of all age groups, including infants. A variety of medical conditions have been suggested as pos...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(98)00035-6
更新日期:1998-08-01 00:00:00
abstract::The distribution of leukomalacia and glial fibrillary acidic protein (GFAP)-positive glial cells in prenatal- and postnatal-onset leukomalacia were compared and diagnosed histologically in 128 autopsied infants and the different pathogeneses were examined. Prenatal-onset leukomalacia was diagnosed in 12 of 71 still-bi...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(93)90009-2
更新日期:1993-01-01 00:00:00
abstract:BACKGROUND:Patients in China with juvenile-onset myasthenia gravis present early, with a high prevalence of purely ocular symptoms, spontaneous remission rates, and low antibody seropositivity. Antibody detection using a cell-based assay has been reported to increase the diagnostic sensitivity in adult-onset myasthenia...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2019.01.016
更新日期:2019-09-01 00:00:00
abstract::We investigated whether children presenting with a first seizure experienced anxiety and depressive signs. Children (aged 7-17 years) with a first unprovoked afebrile seizure participated. These patients (mean age, 12 +/- 2.7 years S.D.; 14 female/8 male) completed the Revised Child Manifest Anxiety Scale (n = 22) and...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2008.07.005
更新日期:2008-10-01 00:00:00
abstract:BACKGROUND:Prevalence and contribution of intracranial and extracranial arterial stenosis to stroke risk were assessed prospectively in children and young adults with sickle cell disease. METHODS:In this cross-sectional study, children and young adults (mean = 19.4 years) with sickle cell disease underwent neurologica...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2020.10.006
更新日期:2021-01-01 00:00:00
abstract::We describe two children from a consanguineous family who manifested mega-corpus callosum, polymicrogyria, and psychomotor retardation. These patients also exhibited the brain anomalies of pontine hypoplasia and an abnormal cerebellar vermis. Our report confirms the genetic nature of megalencephaly-polymicrogyria-mega...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2009.09.012
更新日期:2010-02-01 00:00:00
abstract::The object of this study was to investigate the potential association of infections, especially group A hemolytic streptococcal infection, with the abrupt onset/exacerbation of tics or obsessive-compulsive behaviors. A structured clinical interview was used to evaluate 80 consecutive children, 5-17 years of age, with ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(00)00131-4
更新日期:2000-05-01 00:00:00
abstract:PURPOSE:We evaluated the clinical, electrophysiological, imaging, and ultrastructural features of neuronal ceroid lipofuscinoses and its subtypes. METHODS:The clinical, electrophysiological, imaging, histopathological, and ultrastructural features of 68 (age at onset: 4.3 ± 5.4 years) neuronal ceroid lipofuscinoses an...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2013.08.008
更新日期:2014-01-01 00:00:00
abstract::Three children ranging in age from 2 to 5 years with acute disseminated encephalomyelitis (ADEM) were successfully treated with high-dose intravenous immunoglobulin (IVIG). Their symptoms were somnolence, fever, headache, vomiting, and resting tremor. In all of these patients, it was difficult to distinguish the condi...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(99)00042-9
更新日期:1999-08-01 00:00:00
abstract::The Fontan operation is one of the most common cardiac operations for children with congenital heart disease beyond the first year of age. Although the surgical mortality of this procedure has improved over the past 2 decades, the neurologic outcome in this population is not well described. We performed a retrospectiv...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(95)00027-d
更新日期:1995-04-01 00:00:00
abstract:BACKGROUND:Insomnia and low iron stores are common in children with autism spectrum disorders, and low iron stores have been associated with sleep disturbance. METHODS:We performed a randomized placebo-controlled trial of oral ferrous sulfate to treat insomnia in children with autism spectrum disorders and low normal ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2019.07.015
更新日期:2020-03-01 00:00:00
abstract::To assess the incidence of postneonatal epilepsy in term infants treated with antiepileptic drugs for neonatal seizure discharges that were detected with amplitude-integrated electroencephalography (aEEG), 206 term infants were monitored using this modality. They received antiepileptic drugs for clinical as well as su...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2004.11.005
更新日期:2005-04-01 00:00:00
abstract::Childhood intracranial varix is rare and has been associated mostly with vein of Galen fistula or arteriovenous malformation. We present one patient with intracranial arteriovenous fistula with concomitant giant varix in a child. We treated the patient with endovascular embolization and obtained complete closure of fi...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(02)00424-1
更新日期:2002-10-01 00:00:00
abstract::The etiology of Behr syndrome remains uncertain. A 6-year-old girl with a progressive syndrome of optic atrophy, ataxia, myoclonic epilepsy, urinary incontinence, and pyramidal tract degeneration suggestive of Behr syndrome is described. Diffuse, symmetric white matter abnormalities were demonstrated by magnetic reson...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(94)90033-7
更新日期:1994-05-01 00:00:00
abstract:BACKGROUND:Distinguishing patients with psychogenic nonsyncopal collapse (PNSC), a conversion disorder that resembles syncope, can pose a difficult clinical challenge. Using the open-ended question "what does it feel like to faint?," the present study aimed to characterize how patients with PNSC perceive and communicat...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.pediatrneurol.2019.02.006
更新日期:2019-06-01 00:00:00
abstract::This study investigates the expression of some neurotrophic factors (brain-derived neurotrophic factor, glial-derived neurotrophic factor, and nerve growth factor) in the cerebrospinal fluid of infants suffering from idiopathic congenital central hypoventilation syndrome and determines their correlations with this syn...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2005.05.014
更新日期:2005-11-01 00:00:00
abstract::A boy diagnosed as having glycogenosis type II at three years of age, underwent a sural nerve biopsy at the age of seven years. The distribution of the diameters of myelinated nerve fibers did not clearly demonstrate a bimodal pattern. However, larger fibers of 8 microns or more in diameter were more abundant. This fi...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(86)90075-5
更新日期:1986-11-01 00:00:00
abstract::This report describes a female with eyelid fluttering with absence seizures, infrequent generalized tonic-clonic seizures, and mild mental retardation. Interictal and video-electroencephalography evaluations revealed normal activity while eyes were open but continuous generalized discharges with eyes closed (eyes clos...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2006.05.010
更新日期:2006-11-01 00:00:00
abstract::Central nervous system tumors occur considerably less often in the fetus and neonate than in the older child. They are not entirely the same as those present later in life. Their location, biologic behavior, response to therapy, and histologic types are different. Fetal and neonatal brain tumors (n = 250) were collect...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/s0887-8994(02)00459-9
更新日期:2002-11-01 00:00:00
abstract:BACKGROUND:Clinically mild encephalopathy with a reversible splenial lesion (MERS) is the second commonest cause of encephalopathy. Several pathogens have been detected in patients with MERS type 2, such as influenza A and B, but little is known about the proportion of cases of MERS type 2 with this pathogenesis. Human...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2020.08.021
更新日期:2020-12-01 00:00:00
abstract:BACKGROUND:The Hammersmith Infant Neurological Examination is one of several useful tools for early identification of cerebral palsy; however, cut-off scores for cerebral palsy do not consistently distinguish infants with hemiplegia from those typically developing. We hypothesized that use of an asymmetry score, in add...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2018.07.002
更新日期:2018-10-01 00:00:00