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https://www.readbyqxmd.com/read/27891417/a-commonly-missed-well-known-entity-acute-intermittent-porphyria-a-case-report
#1
Smilu Mohanlal, Radha Gulati Ghildiyal, Alpana Kondekar, Poonam Wade, Richa Sinha
Acute Intermittent Porphyria (AIP) usually presents with abdominal pain, peripheral neuropathy and psychiatric manifestations. Incidence of AIP being 5 in 1,00,000. We present a case of an 11-year-old male child with multiple cranial nerve involvement, quadriparesis, focal convulsions, hypertension, hyponatremia with history of recurrent abdominal pain. His complete haemogram, ultrasonography (USG) abdomen, renal function tests were normal, he was also evaluated for tuberculosis which was negative. On further evaluation Electroencephalography (EEG) was suggestive of a generalised seizure disorder, MRI Brain suggestive of Posterior Reversible Encephalopathy Syndrome (PRES), Electromyography revealed a sensory motor axonal polyneuropathy and urine UV fluoresence test was positive for porphobilinogen which clinched the diagnosis of AIP...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27889818/somatosensory-reflex-seizures-in-a-child-with-epilepsy-related-to-novel-scn1a-mutation
#2
Pinar Arican, Nihal Olgac Dundar, Dilek Cavusoglu, Taha Resid Ozdemır, Pinar Gencpinar
INTRODUCTION: Mutations in SCN1A have been reported in patients with different types of epilepsy, including generalized epilepsy with febrile seizures plus, severe myoclonic epilepsy in infancy, malignant migrating partial seizures in infancy, and other infantile epileptic encephalopathies. CASE REPORT: We report a case of a 10-month-old girl presented with reflex epileptic seizures provoked by somatosensory stimuli with a novel de novo mutation of SCN1A gene. She was observed to have seizures with eye deviation, unresponsiveness provoked by somatosensory stimuli of the face...
November 26, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27861851/infant-social-attention-an-endophenotype-of-asd-related-traits
#3
Emily J H Jones, Kaitlin Venema, Rachel K Earl, Rachel Lowy, Sara J Webb
BACKGROUND: As a neurodevelopmental disorder, symptoms of ASD likely emerge from a complex interaction between preexisting genetic vulnerabilities and the child's environment. One way to understand causal paths to ASD is to identify dimensional ASD-related traits that vary in the general population and that predispose individuals with other risk factors toward ASD. Moving beyond behavioral traits to explore underlying neurocognitive processes may further constrain the underlying genetics...
November 8, 2016: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/27806794/-follow-up-of-survived-children-supported-by-extracorporeal-membrane-oxygenation
#4
Y Cheng, Z J Lu, X G Yan, J He, G F Yan, X D Cai, W J Shen, A L Jin, G P Lu
Objective: To summarize the follow-up of children treated with venoarterial extracorporeal membrane oxygenation (ECMO) by incision of internal carotid artery-vein. Method: This was a retrospective study, 10 children in whom the conventional therapy failed, but survived after treatment with ECMO technique through right internal jugular artery-venous incision and ligation after ECMO in pediatric intensive care unit (PICU) of Fudan University were followed up from December 2011 to December 2015. Primary disease situation, neurological development, growth and development, quality of life and personality development were included...
November 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27707435/progression-of-polysomnographic-abnormalities-in-mucolipidosis-ii-i-cell-disease
#5
William I Wooten, Marianne S Muhlebach, Joseph Muenzer, Ceila E Loughlin, Bradley V Vaughn
Mucolipidosis II (Inclusion cell or I-cell disease) is an autosomal recessive lysosomal storage disorder clinically comparable to the mucopolysaccharidoses (MPS), characterized by progressive respiratory and neurologic deterioration. Sleep problems, especially obstructive sleep apnea (OSA) and disrupted sleep architecture, are observed in other lysosomal storage diseases but have not been described in mucolipidosis II. We report the progression of polysomnographic abnormalities in a child with mucolipidosis II, demonstrated by worsening sleep-related hypoventilation, OSA, and sleep state fragmentation despite advancing PAP therapy...
September 29, 2016: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/27668180/a-case-report-on-the-efficacy-of-vigabatrin-analogue-1s-3s-3-amino-4-difluoromethylenyl-1-cyclopentanoic-acid-cpp-115-in-a-patient-with-infantile-spasms
#6
Kyra Doumlele, Erin Conway, Julie Hedlund, Patricia Tolete, Orrin Devinsky
West Syndrome is characterized by infantile spasms, a hypsarrhythmic electroencephalogram (EEG) pattern, and a poor neurodevelopmental prognosis. First-line treatments include adrenocorticotrophic hormone (ACTH) and vigabatrin, but adverse effects often limit their use. CPP-115 is a high-affinity vigabatrin analogue developed to increase therapeutic potency and to limit retinal toxicity. Here, we present a child treated with CPP-115 through an investigational new drug protocol who experienced a marked reduction of seizures with no evidence of retinal dysfunction...
2016: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/27659837/mri-guided-laser-interstitial-thermal-therapy-for-the-treatment-of-low-grade-gliomas-in-children-a-case-series-review-description-of-the-current-technologies-and-perspectives
#7
Zulma Tovar-Spinoza, Hoon Choi
BACKGROUND: Pediatric low-grade gliomas (LGGs) account for approximately half of all pediatric central nervous system tumors. The low-grade gliomas' first line of treatment is gross total resection. However, when gross total resection is not possible, options for adjuvant therapy are limited. MRI-guided laser ablation (magnetic resonance-guided laser interstitial thermal therapy (MRgLITT)) offers a new option for treatment in selected cases. We present a description of the current MRgLITT technology and an exemplary case-series review of our experience in its use in LGGs...
October 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27622854/exercise-during-pregnancy-enhances-cerebral-maturation-in-the-newborn-a-randomized-controlled-trial
#8
Elise Labonte-Lemoyne, Daniel Curnier, Dave Ellemberg
Accumulating research indicates that the regular practice of physical exercise is beneficial to the human brain. From the improvement of academic achievement in children to the prevention of Alzheimer's disease in the elderly, exercise appears beneficial across the developmental spectrum. Recent work from animal studies also indicates that a pregnant mother can transfer the benefits of exercise during gestation to her offspring's brain. Exercising pregnant rats give birth to pups that have better memory and spatial learning as well as increased synaptic density...
September 13, 2016: Journal of Clinical and Experimental Neuropsychology
https://www.readbyqxmd.com/read/27613780/authoritarian-parenting-predicts-reduced-electrocortical-response-to-observed-adolescent-offspring-rewards
#9
Amanda R Levinson, Brittany C Speed, Brady Nelson, Jennifer N Bress, Greg Hajcak
Parenting styles are robust predictors of offspring outcomes, yet little is known about their neural underpinnings. In this study, 44 parent-adolescent dyads (Mage of adolescent=12.9) completed a laboratory guessing task while EEG was continuously recorded. In the task, each pair member received feedback about their own monetary wins and losses and also observed the monetary wins and losses of the other member of the pair. We examined the association between self-reported parenting style and parents' electrophysiological responses to watching their adolescent winning and losing money, dubbed the observational Reward Positivity (RewP) and observational Feedback Negativity (FN), respectively...
September 9, 2016: Social Cognitive and Affective Neuroscience
https://www.readbyqxmd.com/read/27596361/hypersomnolence-hyperkinetic-movement-disorder-in-a-child-with-compound-heterozygous-mutation-in-4-aminobutyrate-aminotransferase-abat-gene
#10
Madhu Nagappa, Parayil Sankaran Bindu, Shwetha Chiplunkar, Periasamy Govindaraj, Gayathri Narayanappa, Ayyappan Krishnan, M M Srinivas Bharath, Aarthi Swaminathan, Jitender Saini, Hanumanthapura R Arvinda, Sanjib Sinha, Pavagada S Mathuranath, Arun B Taly
Deficiency of gamma-amino-butyrate aminotransferase (ABAT) is a rare inherited disorder. A six-month-old girl presented with hyper-somnolence, hyperkinetic movements of distal extremities during wakefulness, hypotonia, bi-pyramidal signs, and impaired response to sound and visual stimuli. Brain MRI at five months showed restricted diffusion along the internal capsule and genu of corpus callosum. A follow up MRI at 18months, showed hyperintensities in brainstem, external and internal capsule, 'trilaminated' appearance of posterior limb of internal capsule and dysmyelination of sub-cortical white matter...
September 2, 2016: Brain & Development
https://www.readbyqxmd.com/read/27566740/the-child-neurology-clinical-workforce-in-2015-report-of-the-aap-cns-joint-taskforce
#11
Peter B Kang, James F Bale, Mark Mintz, Sucheta M Joshi, Donald L Gilbert, Carrie Radabaugh, Holly Ruch-Ross
OBJECTIVES: More than a decade has passed since the last major workforce survey of child neurologists in the United States; thus, a reassessment of the child neurology workforce is needed, along with an inaugural assessment of a new related field, neurodevelopmental disabilities. METHODS: The American Academy of Pediatrics and the Child Neurology Society conducted an electronic survey in 2015 of child neurologists and neurodevelopmental disabilities specialists...
September 27, 2016: Neurology
https://www.readbyqxmd.com/read/27554343/the-spectrum-of-epilepsy-and-electroencephalographic-abnormalities-due-to-shank3-loss-of-function-mutations
#12
J Lloyd Holder, Michael M Quach
OBJECTIVE: The coincidence of autism with epilepsy is 27% in those individuals with intellectual disability.(1) Individuals with loss-of-function mutations in SHANK3 have intellectual disability, autism, and variably, epilepsy.(2-5) The spectrum of seizure semiologies and electroencephalography (EEG) abnormalities has never been investigated in detail. With the recent report that SHANK3 mutations are present in approximately 2% of individuals with moderate to severe intellectual disabilities and 1% of individuals with autism, determining the spectrum of seizure semiologies and electrographic abnormalities will be critical for medical practitioners to appropriately counsel the families of patients with SHANK3 mutations...
October 2016: Epilepsia
https://www.readbyqxmd.com/read/27505693/maternal-behavior-predicts-infant-neurophysiological-and-behavioral-attention-processes-in-the-first-year
#13
Margaret M Swingler, Nicole B Perry, Susan D Calkins, Martha Ann Bell
We apply a biopsychosocial conceptualization to attention development in the 1st year and examine the role of neurophysiological and social processes on the development of early attention processes. We tested whether maternal behavior measured during 2 mother-child interaction tasks when infants (N = 388) were 5 months predicted infant medial frontal (F3/F4) EEG power and observed attention behavior during an attention task at 10 months. After controlling for infant attention behavior and EEG power in the same task measured at an earlier 5-month time point, results indicated a significant direct and positive association from 5-month maternal positive affect to infant attention behavior at 10 months...
August 8, 2016: Developmental Psychology
https://www.readbyqxmd.com/read/27493489/eeg-power-spectrum-analysis-in-children-with-adhd
#14
Akira Kamida, Kenta Shimabayashi, Masayoshi Oguri, Toshihiro Takamori, Naoyuki Ueda, Yuki Koyanagi, Naoko Sannomiya, Haruki Nagira, Saeko Ikunishi, Yuiko Hattori, Kengo Sato, Chisako Fukuda, Yasuaki Hirooka, Yoshihiro Maegaki
BACKGROUND: Attention deficit disorder/hyperactivity disorder (ADHD) is a pathological condition that is not fully understood. In this study, we investigated electroencephalographic (EEG) power differences between children with ADHD and healthy control children. METHODS: EEGs were recorded as part of routine medical care received by 80 children with ADHD aged 4-15 years at the Department of Pediatric Neurology in Tottori University Hospital. Additionally, we recorded in 59 control children aged 4-15 years after obtaining informed consent...
June 2016: Yonago Acta Medica
https://www.readbyqxmd.com/read/27486995/early-cord-metabolite-index-and-outcome-in-perinatal-asphyxia-and-hypoxic-ischaemic-encephalopathy
#15
C E Ahearne, N M Denihan, B H Walsh, S N Reinke, L C Kenny, G B Boylan, D I Broadhurst, D M Murray
BACKGROUND: A 1H-NMR-derived metabolomic index based on early umbilical cord blood alterations of succinate, glycerol, 3-hydroxybutyrate and O-phosphocholine has shown potential for the prediction of hypoxic-ischaemic encephalopathy (HIE) severity. OBJECTIVE: To evaluate whether this metabolite score can predict 3-year neurodevelopmental outcome in infants with perinatal asphyxia and HIE, compared with current standard biochemical and clinical markers. METHODS: From September 2009 to June 2011, infants at risk of perinatal asphyxia were recruited from a single maternity hospital...
2016: Neonatology
https://www.readbyqxmd.com/read/27476614/-subacute-anti-n-methyl-d-aspartate-receptor-encephalitis-a-serie-of-13-paediatric-cases
#16
Ricardo Erazo, Jaime González, Consuelo Quintanilla, Claudia Devaud, Consuelo Gayoso, Ximena Toledo, Erna Rauch, Claudia Riffo, Carolina Alvarez, Marne Salazar, Daniela Salvo, Josep Dalmau, Orietta Carmona
INTRODUCTION: Subacute anti-NMDA receptor encephalitis was recognised in 2007 as a clinical entity, and was first described in young women with ovarian teratoma. The first paediatric series unrelated with tumours was reported in 2009. OBJECTIVE: To present the clinical features, treatment, and prognosis of 13 patients with anti-NMDA receptor encephalitis in Chile. PATIENTS AND METHOD: A description is presented of 13 children, 9 males, aged between 1 and 16 years, diagnosed between 2009 and 2016 in 7 hospitals...
July 29, 2016: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/27435520/idiopathic-focal-epilepsies-the-lost-tribe
#17
Deb K Pal, Colin Ferrie, Laura Addis, Tomoyuki Akiyama, Giuseppe Capovilla, Roberto Caraballo, Anne de Saint-Martin, Natalio Fejerman, Renzo Guerrini, Khalid Hamandi, Ingo Helbig, Andreas A Ioannides, Katsuhiro Kobayashi, Dennis Lal, Gaetan Lesca, Hiltrud Muhle, Bernd A Neubauer, Tiziana Pisano, Gabrielle Rudolf, Caroline Seegmuller, Takashi Shibata, Anna Smith, Pasquale Striano, Lisa J Strug, Pierre Szepetowski, Thalia Valeta, Harumi Yoshinaga, Michalis Koutroumanidis
The term idiopathic focal epilepsies of childhood (IFE) is not formally recognised by the ILAE in its 2010 revision (Berg et al., 2010), nor are its members and boundaries precisely delineated. The IFEs are amongst the most commonly encountered epilepsy syndromes affecting children. They are fascinating disorders that hold many "treats" for both clinicians and researchers. For example, the IFEs pose many of the most interesting questions central to epileptology: how are functional brain networks involved in the manifestation of epilepsy? What are the shared mechanisms of comorbidity between epilepsy and neurodevelopmental disorders? How do focal EEG discharges impact cognitive functioning? What explains the age-related expression of these syndromes? Why are EEG discharges and seizures so tightly locked to slow-wave sleep? In the last few decades, the clinical symptomatology and the respective courses of many IFEs have been described, although they are still not widely appreciated beyond the specialist community...
September 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27433986/neural-encoding-of-the-speech-envelope-by-children-with-developmental-dyslexia
#18
Alan J Power, Lincoln J Colling, Natasha Mead, Lisa Barnes, Usha Goswami
Developmental dyslexia is consistently associated with difficulties in processing phonology (linguistic sound structure) across languages. One view is that dyslexia is characterised by a cognitive impairment in the "phonological representation" of word forms, which arises long before the child presents with a reading problem. Here we investigate a possible neural basis for developmental phonological impairments. We assess the neural quality of speech encoding in children with dyslexia by measuring the accuracy of low-frequency speech envelope encoding using EEG...
September 2016: Brain and Language
https://www.readbyqxmd.com/read/27404674/head-up-tilt-test-results-in-child-twins-with-nervous-mediated-syncope
#19
Wenhua Zhang, Shuo Wang, Cheng Wang, Liping Liu, Ping Lin, Fang Li, Lijia Wu, Runmei Zou
OBJECTIVE: To investigate the familial genetic characteristics of syncope in children. METHODS: A detailed medical history was taken from four twin pairs of children complaining of dizziness, headache, chest tightness, chest pain, prodromal symptoms of syncope or syncope, meanwhile, these patients were given routine physical examination, 12-lead ECG, echocardiography, Holter ECG, EEG, MRI of the head and other tests to exclude cardio-cerebrovascular and pulmonary diseases, with those with unknown origin for syncope undergoing head-up tilt test (HUTT) and inquiry of detailed family history...
October 15, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/27354097/mother-child-interaction-links-between-mother-and-child-frontal-electroencephalograph-asymmetry-and-negative-behavior
#20
Naama Atzaba-Poria, Kirby Deater-Deckard, Martha Ann Bell
It is well accepted that parent-child interactions are bidirectional by nature, yet not much is known about the psychophysiological activity underlying these interactions. This study examined, during a parent-child interaction, how a child's negativity statistically predicted maternal frontal electroencephalograph (EEG) asymmetry and how a mother's negativity statistically predicted child frontal EEG asymmetry. Thirty-four mother-child dyads participated in the study. Maternal and child behaviors and physiology were measured during a puzzle task...
June 29, 2016: Child Development
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