Abstract:
BACKGROUND:A cause cannot be determined in 30% to 50% of patients with intellectual disability. Determining the etiology of intellectual disability is important and useful for pediatric neurologists, geneticists, pediatricians, and patients' families because it allows assessment of recurrence risk, appropriate genetic counseling, and focus on treatment options and prognosis. This study aims to determine the prevalence, origin, and characterization of subtelomeric rearrangements through the Multiplex Ligation-Dependent Probe Amplification method in pediatric patients with idiopathic intellectual disability. METHODS:A cross-sectional descriptive study was undertaken with patients seen in consultation at the neuropediatrics or genetic service of the Central Military Hospital, the Mercy' Hospital, or the Genetics Institute National University of Colombia. Patients were diagnosed with idiopathic intellectual disability between December 2010 and September 2011 and underwent a complete medical history, physical examination, and assessment to rule out other etiologies of intellectual disability. Then we applied the genetic test of Multiplex Ligation-Dependent Probe Amplification to each patient's sample of peripheral blood to determine subtelomeric rearrangements. RESULTS:We studied a group of 119 patients with idiopathic intellectual disability; Multiplex Ligation-Dependent Probe Amplification showed subtelomeric rearrangements in five. In the group with subtelomeric rearrangements, the most frequent results were de novo rearrangements (80%), deletion type (60%), moderate and severe intellectual disability (80%), minor phenotypic abnormalities (80%), and family history of neurological disorders (80%). No dependence relationship was observed between subtelomeric rearrangements and family history of neurological disorders, family history of intellectual disability, severity of intellectual disability, phenotypic abnormalities, and consanguinity. CONCLUSIONS:This study determined a prevalence of subtelomeric rearrangements of 4.2% in a group of Colombian pediatric patients with idiopathic intellectual disability using the genetic test Multiplex Ligation-Dependent Probe Amplification.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Medina A,Piñeros L,Arteaga C,Velasco H,Izquierdo A,Giraldo A,Espinosa Edoi
10.1016/j.pediatrneurol.2013.10.017subject
Has Abstractpub_date
2014-03-01 00:00:00pages
250-4issue
3eissn
0887-8994issn
1873-5150pii
S0887-8994(13)00659-0journal_volume
50pub_type
杂志文章abstract::Syncope is a common problem in children and adolescents. It is typically caused by benign neurally mediated hypotension, but other, more concerning, etiologies of syncope must be considered. In most instances, the underlying cause of syncope in the pediatric patient can be determined by obtaining a thorough history an...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.pediatrneurol.2015.10.018
更新日期:2016-02-01 00:00:00
abstract::This report describes the outcomes of 28 children who had severe head injuries between 13-18 years of age. All were unconscious at least 24 hours and have been followed at least 2 years after injury. At present, their ages range from 18 to 27 years. Their educational achievements, social activities, marital status, fu...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(88)90079-3
更新日期:1988-11-01 00:00:00
abstract::Intrauterine cocaine exposure has been associated with multiple transient and permanent neurologic sequelae. Although dystonic reactions have been reported in cocaine users, infantile dystonia following intrauterine exposure has not. We describe 4 infants testing positive for cocaine metabolite at birth with subsequen...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(95)00050-p
更新日期:1995-05-01 00:00:00
abstract::A previously healthy 7-month-old child was treated with homeopathic preparations of thuja, a potentially convulsant compound, for the purpose of providing a calming effect around times of immunizations. The child developed eight generalized tonic-clonic seizures with no other obvious cause, in the context of normal el...
journal_title:Pediatric neurology
pub_type: 临床试验,杂志文章
doi:10.1016/j.pediatrneurol.2007.07.008
更新日期:2007-12-01 00:00:00
abstract:BACKGROUND:Transient bulbar palsy without involvement of the facial or extraocular muscles is a rare presentation. It is considered a form of cranial polyneuropathy, a variant of Guillain-Barré syndrome that is related to the autoimmune mechanisms induced by preceding infections or vaccinations. However, drug-induced c...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2016.07.011
更新日期:2017-01-01 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::In a prospective study, we analyzed the intraoperative electroencephalographic (EEG) changes during open heart surgery with deep hypothermia in 66 infants aged 6 months or younger, 70% of whom were neonates. Suppression of amplitude and continuity at the nadir of temperature reduction and following rewarming, and the ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(94)90044-2
更新日期:1994-03-01 00:00:00
abstract::Cardiac abnormalities, often heralded by electrocardiographic alterations, at times may become a serious problem in patients with neuromuscular disorders and occasionally lead to death. Electrocardiographic monitoring can identify patients whose conduction defects will benefit from the use of demand pacemakers. ...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/0887-8994(85)90039-6
更新日期:1985-03-01 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::Polyneuritis cranialis is a rare disorder of multiple cranial nerve palsies without spinal cord involvement. The case reported is of a 10-year-old boy with multiple palsies involving cranial nerves III, IV, V, VI, VII, IX, X, XI, and XII cranial nerves, unilaterally or bilaterally. After initial, unsuccessful treatmen...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2007.05.002
更新日期:2007-09-01 00:00:00
abstract::Many investigators have identified localized cortical involvement in subacute sclerosing panencephalitis (SSPE) by clinical and electrophysiologic criteria. Some investigators have reported such abnormalities in the posterior cerebrum early in the course of the disease, but without radiologic correlation. Recently, ma...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(87)90074-9
更新日期:1987-09-01 00:00:00
abstract::We analyzed the clinical manifestations, genetic mutations, treatment responses to L-dopa, and long-term neurologic outcomes in Taiwanese infants with tyrosine hydroxylase deficiency. From 1999 to May 2011, we enrolled six infants who had been diagnosed with tyrosine hydroxylase deficiency by identifying point mutatio...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2011.11.012
更新日期:2012-02-01 00:00:00
abstract::Amiel-Tison neurologic assessment at term has recently been updated for clinical application. Experience in this field, in addition to a better understanding of pathophysiologic characteristics of the immature brain, has taught us that an increased precision in assessing central nervous system function in the neonate ...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/s0887-8994(02)00436-8
更新日期:2002-09-01 00:00:00
abstract::We used two strategies to investigate a possible link between predisposition for epilepsy and mutations in the fragile X mental retardation-1 gene. The first entailed performing electroencephalography on 14 patients with an amplification in the fragile X mental retardation-1 gene, and the second involved molecular gen...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(96)00251-2
更新日期:1996-11-01 00:00:00
abstract:BACKGROUND:Peroxisomal disorders are classified in two major groups: (1) peroxisome biogenesis disorders and (2) single peroxisomal enzyme/transporter deficiencies. D-bifunctional protein deficiency (OMIM #261515) is included in this last group of rare diseases and leads to an impaired peroxisomal beta-oxidation. D-bif...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2015.01.007
更新日期:2015-05-01 00:00:00
abstract::Seizures are an early sign of brain injury in newborns. These seizures are in most cases repetitive or associated with asymptomatic electrographic seizures. Despite the relative resistance of the immature brain to seizure-induced brain damage, there is more and more evidence that neonatal seizures impair normal brain ...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.pediatrneurol.2008.10.026
更新日期:2009-03-01 00:00:00
abstract::Guillain-Barré syndrome and acute myelitis represent common and very rare etiologies of acute limb weakness in children, respectively. Typically, demyelination is most common, limited to either the central or peripheral nervous system. Concurrent acute myelitis and Guillain-Barré syndrome are seldom reported. We retro...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2010.08.013
更新日期:2011-02-01 00:00:00
abstract::Brain plasticity refers to its ability to recover after damage. Visual field plasticity is not well recognized. We report a 12-year-old female who first presented with recurrent seizures and was subsequently found to have a large, right occipital cortical dysplasia on magnetic resonance imaging. Her visual field by Go...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(00)00171-5
更新日期:2000-09-01 00:00:00
abstract::A newborn infant with seizures of unknown etiology that were refractory to treatment with phenobarbitone, phenytoin, midazolam, clonazepam, and vigabatrin is reported. The introduction of the new antiepileptic drug lamotrigine was followed by rapid and sustained control of the seizures. ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(98)00125-8
更新日期:1999-02-01 00:00:00
abstract::Musicogenic epilepsy is a relatively rare form of epilepsy. In its pure form, it is characterized by epileptic seizures that are provoked exclusively by listening to music. The usual type of seizure is partial complex or generalized tonic-clonic. Precipitating factors are quite specific, such as listening to only one ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(03)00011-0
更新日期:2003-05-01 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::A retrospective review of children with epilepsy and obstructive sleep apnea, treated surgically for their obstructive sleep apnea from January 2008-October 2010, was performed for age, sex, type of epilepsy, antiseizure medications, sleep-study data, and changes in seizure frequency. Twenty-seven subjects (median age...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2012.03.005
更新日期:2012-06-01 00:00:00
abstract::The clinical phenotype of multiple acyl-CoA dehydrogenase deficiency in infancy is characterized by recurrent episodes of hypoketotic hypoglycemia and lipid storage myopathy. Brain damage has been described only as a consequence of severe and protracted hypoglycemia. We describe a child who experienced normal physical...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(95)00187-5
更新日期:1995-11-01 00:00:00
abstract::We present a 5-year survival profile of 42 children and adolescents between 1 to 21 years of age in an immobile minimally conscious state, chronically dependent on supportive ventilation. Data were collected from a 22-bed pediatric unit dedicated to this unique population, within a 350-bed geriatric hospital, between ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2012.12.020
更新日期:2013-04-01 00:00:00
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 wi...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2016.03.016
更新日期:2016-07-01 00:00:00
abstract::We investigated the clinical characteristics of children with continuous spike waves during slow-wave sleep syndrome and their treatment response to levetiracetam. Five boys and one girl, diagnosed with epilepsy with continuous spike waves during slow-wave sleep syndrome, were enrolled. Their clinical characteristics,...
journal_title:Pediatric neurology
pub_type: 临床试验,杂志文章
doi:10.1016/j.pediatrneurol.2008.04.007
更新日期:2008-08-01 00:00:00
abstract::Child neurology has evolved from a primarily diagnostic to a therapeutic subspecialty. Despite well-documented manpower shortages, child neurology programs at major children's hospitals have expanded, and the optimal administrative structure for child neurology programs has not been clearly defined. The Division of Ch...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2010.07.007
更新日期:2011-01-01 00:00:00
abstract::To investigate ophthalmologic manifestations in children with definitive oxidative phosphorylation disorders, a retrospective review was conducted of clinical and laboratory records of all such pediatric patients (n = 103) diagnosed and treated at one center between 1983 and 2006. All were residents of Victoria, Austr...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2008.02.003
更新日期:2008-06-01 00:00:00
abstract::Neurophysiologic intraoperative monitoring, using somatosensory, brainstem auditory, and visual evoked potentials, transcranial electric motor stimulation, and electromyography, is typically used during complex surgeries involving the motor and sensory cortex, brainstem, cranial nerves, spinal cord, nerve root, periph...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.pediatrneurol.2010.11.008
更新日期:2011-03-01 00:00:00
abstract::Hemiconvulsion-hemiplegia-epilepsy syndrome involves sudden and prolonged unilateral seizures, followed by transient or permanent hemiplegia and epilepsy during infancy or early childhood. Some patients with familial hemiplegic migraine and demonstrating the S218L mutation in CACNA1A experience severe attacks with uni...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2011.04.010
更新日期:2011-09-01 00:00:00