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https://www.readbyqxmd.com/read/26836830/a-novel-mutation-in-dmd-c-10797-5g-a-causes-becker-muscular-dystrophy-associated-with-intellectual-disability
#1
Rudaina Banihani, Berivan Baskin, William Halliday, Jeff Kobayashi, Anne Kawamura, Laura McAdam, Peter N Ray, Grace Yoon
BACKGROUND: Severe intellectual disability has been reported in a subgroup of patients with Duchenne muscular dystrophy but is not typically associated with Becker muscular dystrophy. PATIENT: The authors report a 13-year-old boy, with severe intellectual disability (Wechsler Intelligence Scales for Children-IV, Full Scale IQ < 0.1 percentile), attention-deficit hyperactivity disorder, and mild muscle weakness. He had elevated serum creatine kinase and dystrophic changes on muscle biopsy...
April 2016: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/26821169/altered-posterior-cingulate-brain-metabolites-and-cognitive-dysfunction-in-preterm-adolescents
#2
Jeanie L Y Cheong, Alan Bainbridge, Peter J Anderson, Katherine J Lee, Alice C Burnett, Deanne K Thompson, Gehan Roberts, Stephen J Wood, Lex W Doyle, Nicola J Robertson
BACKGROUND: Extremely preterm (EP, <28 wk gestation) individuals have increased the risk of cognitive deficits compared with controls. The posterior cingulate region has an important role in cognitive function, but how this is affected by preterm birth is unknown. We aimed to compare brain metabolite ratios of neurons and cell membranes between EP 18-y olds and controls, and explore the association between metabolite ratios and cognitive outcomes. METHOD: A regional cohort of 150 EP and 134 controls were recruited for the study...
May 2016: Pediatric Research
https://www.readbyqxmd.com/read/26526126/biochemistry-of-the-cingulate-cortex-in-autism-an-mr-spectroscopy-study
#3
Lauren E Libero, Meredith A Reid, David M White, Nouha Salibi, Adrienne C Lahti, Rajesh K Kana
Neuroimaging studies have uncovered structural and functional alterations in the cingulate cortex in individuals with autism spectrum disorders (ASD). Such abnormalities may underlie neurochemical imbalance. In order to characterize the neurochemical profile, the current study examined the concentration of brain metabolites in dorsal ACC (dACC) and posterior cingulate cortex (PCC) in high-functioning adults with ASD. Twenty high-functioning adults with ASD and 20 age-and-IQ-matched typically developing (TD) peers participated in this Proton magnetic resonance spectroscopy (1H-MRS) study...
June 2016: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/25919578/relationship-among-glutamine-%C3%AE-aminobutyric-acid-and-social-cognition-in-autism-spectrum-disorders
#4
David M Cochran, Elif M Sikoglu, Steven M Hodge, Richard A E Edden, Ann Foley, David N Kennedy, Constance M Moore, Jean A Frazier
OBJECTIVE: An imbalance of excitatory and inhibitory neurotransmission in autism spectrum disorder (ASD) has been proposed. We compared glutamate (Glu), glutamine (Gln), and γ-aminobutyric acid (GABA) levels in the anterior cingulate cortex (ACC) of 13 males with ASD and 14 typically developing (TD) males (ages 13-17), and correlated these levels with intelligence quotient (IQ) and measures of social cognition. METHODS: Social cognition was evaluated by administration of the Social Responsiveness Scale (SRS) and the Reading the Mind in the Eyes Test (RMET)...
May 2015: Journal of Child and Adolescent Psychopharmacology
https://www.readbyqxmd.com/read/25633678/decreases-in-short-term-memory-iq-and-altered-brain-metabolic-ratios-in-urban-apolipoprotein-%C3%AE%C2%B54-children-exposed-to-air-pollution
#5
Lilian Calderón-Garcidueñas, Antonieta Mora-Tiscareño, Maricela Franco-Lira, Hongtu Zhu, Zhaohua Lu, Edelmira Solorio, Ricardo Torres-Jardón, Amedeo D'Angiulli
Children's urban air pollution exposures result in systemic and brain inflammation and the early hallmarks of Alzheimer's disease (AD). The apolipoprotein E (APOE) ε4 allele is the most prevalent genetic risk for AD. We assessed whether APOE in healthy children modulates cognition, olfaction, and metabolic brain indices. The Wechsler Intelligence Scale for Children (WISC-R) and the University of Pennsylvania Smell Identification Test were administered to 50 Mexico City Metropolitan Area children (13.4 ± 4...
2015: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/25437375/abnormal-relationship-between-gaba-neurophysiology-and-impulsive-behavior-in-neurofibromatosis-type-1
#6
Maria J Ribeiro, Inês R Violante, Inês Bernardino, Richard A E Edden, Miguel Castelo-Branco
Neurofibromatosis type 1 (NF1) is a neurodevelopmental disorder characterized by a broad spectrum of cognitive deficits. In particular, executive dysfunction is recognized as a core deficit of NF1, including impairments in executive attention and inhibitory control. Yet, the neural mechanisms behind these important deficits are still unknown. Here, we studied inhibitory control in a visual go/no-go task in children and adolescents with NF1 and age- and gender-matched controls (n = 16 per group). We applied a multimodal approach using high-density electroencephalography (EEG), to study the evoked brain responses, and magnetic resonance spectroscopy (MRS) to measure the levels of GABA and glutamate + glutamine in the medial frontal cortex, a brain region that plays a pivotal role in inhibitory control, and also in a control region, the occipital cortex...
March 2015: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
https://www.readbyqxmd.com/read/25060166/minimal-hepatic-encephalopathy-in-children-with-liver-cirrhosis-diffusion-weighted-mr-imaging-and-proton-mr-spectroscopy-of-the-brain
#7
Ahmed Abdel Khalek Abdel Razek, Ahmed Abdalla, Amany Ezzat, Ahmed Megahed, Tarek Barakat
INTRODUCTION: The aim of this work was to detect minimal hepatic encephalopathy (minHE) in children with diffusion-weighted MR imaging (DWI) and proton magnetic resonance spectroscopy (1H-MRS) of the brain. METHODS: Prospective study conducted upon 30 consecutive children (age range 6-16 years, 21 boys and 9 girls) with liver cirrhosis and 15 age- and sex-matched healthy control children. Patients with minHE (n = 17) and with no minHE (n = 13) groups and control group underwent DWI, 1H-MRS, and neuropsychological tests (NPTs)...
October 2014: Neuroradiology
https://www.readbyqxmd.com/read/24643164/glutamate-glutamine-and-neuronal-integrity-in-adults-with-adhd-a-proton-mrs-study
#8
S Maltezos, J Horder, S Coghlan, C Skirrow, R O'Gorman, T J Lavender, M A Mendez, M Mehta, E Daly, K Xenitidis, E Paliokosta, D Spain, M Pitts, P Asherson, D J Lythgoe, G J Barker, D G Murphy
There is increasing evidence that abnormalities in glutamate signalling may contribute to the pathophysiology of attention-deficit hyperactivity disorder (ADHD). Proton magnetic resonance spectroscopy ([1H]MRS) can be used to measure glutamate, and also its metabolite glutamine, in vivo. However, few studies have investigated glutamate in the brain of adults with ADHD naive to stimulant medication. Therefore, we used [1H]MRS to measure the combined signal of glutamate and glutamine (Glu+Gln; abbreviated as Glx) along with other neurometabolites such as creatine (Cr), N-acetylaspartate (NAA) and choline...
2014: Translational Psychiatry
https://www.readbyqxmd.com/read/24268530/guanidinoacetate-methyltransferase-gamt-deficiency-outcomes-in-48-individuals-and-recommendations-for-diagnosis-treatment-and-monitoring
#9
Sylvia Stockler-Ipsiroglu, Clara van Karnebeek, Nicola Longo, G Christoph Korenke, Saadet Mercimek-Mahmutoglu, Iris Marquart, Bruce Barshop, Christiane Grolik, Andrea Schlune, Brad Angle, Helena Caldeira Araújo, Turgay Coskun, Luisa Diogo, Michael Geraghty, Goknur Haliloglu, Vassiliki Konstantopoulou, Vincenzo Leuzzi, Alina Levtova, Jennifer Mackenzie, Bruno Maranda, Aizeddin A Mhanni, Grant Mitchell, Andrew Morris, Theresa Newlove, Deborah Renaud, Fernando Scaglia, Vassili Valayannopoulos, Francjan J van Spronsen, Krijn T Verbruggen, Nataliya Yuskiv, William Nyhan, Andreas Schulze
We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase (GAMT) deficiency. Global developmental delay/intellectual disability (DD/ID) with speech/language delay and behavioral problems as the most affected domains was present in 44 participants, with additional epilepsy present in 35 and movement disorder in 13. Treatment regimens included various combinations/dosages of creatine-monohydrate, l-ornithine, sodium benzoate and protein/arginine restricted diets. The median age at treatment initiation was 25...
January 2014: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/23838890/reduced-subcortical-glutamate-glutamine-in-adults-with-autism-spectrum-disorders-a-%C3%A2-h-mrs-study
#10
J Horder, T Lavender, M A Mendez, R O'Gorman, E Daly, M C Craig, D J Lythgoe, G J Barker, D G Murphy
Dysfunctional glutamatergic neurotransmission has been implicated in autism spectrum disorder (ASD). However, relatively few studies have directly measured brain glutamate in ASD adults, or related variation in glutamate to clinical phenotype. We therefore set out to investigate brain glutamate levels in adults with an ASD, comparing these to healthy controls and also comparing results between individuals at different points on the spectrum of symptom severity. We recruited 28 adults with ASD and 14 matched healthy controls...
2013: Translational Psychiatry
https://www.readbyqxmd.com/read/22848344/elevated-glutamatergic-compounds-in-pregenual-anterior-cingulate-in-pediatric-autism-spectrum-disorder-demonstrated-by-1h-mrs-and-1h-mrsi
#11
Anthony Bejjani, Joseph O'Neill, John A Kim, Andrew J Frew, Victor W Yee, Ronald Ly, Christina Kitchen, Noriko Salamon, James T McCracken, Arthur W Toga, Jeffry R Alger, Jennifer G Levitt
Recent research in autism spectrum disorder (ASD) has aroused interest in anterior cingulate cortex and in the neurometabolite glutamate. We report two studies of pregenual anterior cingulate cortex (pACC) in pediatric ASD. First, we acquired in vivo single-voxel proton magnetic resonance spectroscopy ((1)H MRS) in 8 children with ASD and 10 typically developing controls who were well matched for age, but with fewer males and higher IQ. In the ASD group in midline pACC, we found mean 17.7% elevation of glutamate + glutamine (Glx) (p<0...
2012: PloS One
https://www.readbyqxmd.com/read/22215917/magnetic-resonance-spectroscopy-and-neurocognitive-dysfunction-in-obstructive-sleep-apnea-before-and-after-cpap-treatment
#12
Fergal J O'Donoghue, R Mark Wellard, Peter D Rochford, Andrew Dawson, Maree Barnes, Warren R Ruehland, Melinda L Jackson, Mark E Howard, Robert J Pierce, Graeme D Jackson
STUDY OBJECTIVES: To determine whether cerebral metabolite changes may underlie abnormalities of neurocognitive function and respiratory control in OSA. DESIGN: Observational, before and after CPAP treatment. SETTING: Two tertiary hospital research institutes. PARTICIPANTS: 30 untreated severe OSA patients, and 25 age-matched healthy controls, all males free of comorbidities, and all having had detailed structural brain analysis using voxel-based morphometry (VBM)...
January 2012: Sleep
https://www.readbyqxmd.com/read/22212131/treatable-inborn-errors-of-metabolism-causing-intellectual-disability-a-systematic-literature-review
#13
REVIEW
Clara D M van Karnebeek, Sylvia Stockler
BACKGROUND: Intellectual disability ('developmental delay' at age<5 years) affects 2.5% of population worldwide. Recommendations to investigate genetic causes of intellectual disability are based on frequencies of single conditions and on the yield of diagnostic methods, rather than availability of causal therapy. Inborn errors of metabolism constitute a subgroup of rare genetic conditions for which an increasing number of treatments has become available. To identify all currently treatable inborn errors of metabolism presenting with predominantly intellectual disability, we performed a systematic literature review...
March 2012: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/21983183/n-acetylaspartate-concentration-in-corpus-callosum-is-positively-correlated-with-intelligence-in-adolescents
#14
Kubilay Aydin, Seda Uysal, Azize Yakut, Birgul Emiroglu, Fatma Yılmaz
The corpus callosum is the largest white matter bundle in the brain and integrates inter-hemispheric cortices during sensory-motor and high-order cognitive processes. The aim of the present study was to investigate the associations between the metabolite concentrations in the corpus callosum and intelligence among adolescents. Thirty male adolescents aged between 14 and 16 years were included into the study. We measured the intelligence quotient (IQ) scores of the subjects by using the Wechsler Intelligence Scale for Children-Revised (verbal, performance and full-scale IQ) test...
January 16, 2012: NeuroImage
https://www.readbyqxmd.com/read/21556832/long-term-follow-up-and-treatment-in-nine-boys-with-x-linked-creatine-transporter-defect
#15
Jiddeke M van de Kamp, Petra J W Pouwels, Femke K Aarsen, Leontine W ten Hoopen, Dirk L Knol, Johannes B de Klerk, Ireneus F de Coo, Jan G M Huijmans, Cornelis Jakobs, Marjo S van der Knaap, Gajja S Salomons, Grazia M S Mancini
The creatine transporter (CRTR) defect is a recently discovered cause of X-linked intellectual disability for which treatment options have been explored. Creatine monotherapy has not proved effective, and the effect of treatment with L-arginine is still controversial. Nine boys between 8 months and 10 years old with molecularly confirmed CRTR defect were followed with repeated (1)H-MRS and neuropsychological assessments during 4-6 years of combination treatment with creatine monohydrate, L-arginine, and glycine...
January 2012: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/21135758/anterior-cingulate-and-frontal-lobe-white-matter-spectroscopy-in-early-childhood-of-former-very-lbw-premature-infants
#16
John P Phillips, David Ruhl, Erica Montague, Charles Gasparovic, Arvind Caprihan, Robin K Ohls, Ronald Schrader, Jean R Lowe
Neurometabolic sequelae of children born at very LBW (VLBW) are not well characterized in early childhood. Proton magnetic resonance spectroscopy (1H-MRS) and developmental assessments were acquired from children age 18-22 mo (16 VLBW/7 term) and 3-4 y (12 VLBW/8 term) from the anterior cingulate and left frontal periventricular white matter. Metabolites obtained included combined N-acetylaspartylglutamate and N-acetylaspartate (NAA), total choline-containing compounds (Cho), combined glutamate and glutamine (Glx), combined creatine and phosphocreatine (Cr), myoinositol (mI), and the following ratios: NAA/Cr, Cho/Cr, Glx/Cr, mI/Cr, and NAA/Cho...
March 2011: Pediatric Research
https://www.readbyqxmd.com/read/20682460/l-arginine-glycine-amidinotransferase-agat-deficiency-clinical-presentation-and-response-to-treatment-in-two-patients-with-a-novel-mutation
#17
Simon Edvardson, Stanley H Korman, Amir Livne, Avraham Shaag, Ann Saada, Ruppen Nalbandian, Hyla Allouche-Arnon, J Moshe Gomori, Rachel Katz-Brull
Creatine and creatine phosphate provide storage and transmission of phosphate-bound energy in muscle and brain. Of the three inborn errors of creatine metabolism causing brain creatine depletion, l-arginine:glycine amidinotransferase (AGAT) deficiency has been described in only two families. We describe clinical and biochemical features, magnetic resonance spectroscopy (MRS) findings and response to creatine supplementation in two siblings with a novel mutation in the AGAT-encoding GATM gene. The sister and brother were evaluated at age 12 and 18years, respectively, because of mild mental retardation, muscle weakness and low weight...
October 2010: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/20299741/function-of-the-frontal-lobe-in-autistic-individuals-a-proton-magnetic-resonance-spectroscopic-study
#18
Emiko Fujii, Kenji Mori, Masahito Miyazaki, Toshiaki Hashimoto, Masafumi Harada, Shoji Kagami
PURPOSE: In this investigation, we studied differences in chemical metabolites in certain brain regions between autistic patients and normal control subjects. METHODS: Proton magnetic resonance spectroscopy ((1)H-MRS) was used to evaluate functional activity in these regions. Specific regions studied were right and left dorsolateral prefrontal cortex(DLPFC) and the anterior cingulated cortex(ACC). RESULTS: In the ACC, the N-acetylaspartate(NAA)/creatine/phosphocreatine(Cr) ratio in autistic patients (n=31) was significantly lower than that in control subjects (n=28)...
February 2010: Journal of Medical Investigation: JMI
https://www.readbyqxmd.com/read/20159196/-catatonia-in-a-14-year-old-girl-treatment-with-clorazepam-and-carbamazepine-a-10-year-follow-up
#19
F Askenazy, E Dor, M Benoit, G Dupuis, S Serret, M Myquel, Y Seddiki
INTRODUCTION: Child and adolescent catatonia has been poorly investigated. Moreover, diagnosis criteria only exist for adult psychiatry, and there are no therapeutic guidelines. The aim of this paper is to describe the case of a 14-year-old girl presenting an overlap between psychogenic and neuroleptic induced catatonia, acute treatment and ten year's follow-up. CASE REPORT: A 14-year-old Caucasian French girl, Elsa, was admitted in February 1998 to a University adolescent mental health center with an acute psychotic disorder...
February 2010: L'Encéphale
https://www.readbyqxmd.com/read/19854108/correlation-between-memory-proton-magnetic-resonance-spectroscopy-and-interictal-epileptiform-discharges-in-temporal-lobe-epilepsy-related-to-mesial-temporal-sclerosis
#20
Marcele Araújo Silva Mantoan, Luís Otávio Sales Ferreira Caboclo, Laura Maria de Figueiredo Ferreira Guilhoto, Katia Lin, Maria Helena da Silva Noffs, Ivanda de Souza Silva Tudesco, Erich Belzunces, Henrique Carrete, Renato Tavares Bussoletti, Ricardo Silva Centeno, Américo Ceiki Sakamoto, Elza Márcia Targas Yacubian
OBJECTIVE: The aim of the study described here was to examine the relationship between memory function, proton magnetic resonance spectroscopy ((1)H-MRS) abnormalities, and interictal epileptiform discharge (IED) lateralization in patients with temporal lobe epilepsy (TLE) related to unilateral mesial temporal sclerosis. METHODS: We assessed performance on tests of memory function and intelligence quotient (IQ) in 29 right-handed outpatients and 24 controls. IEDs were assessed on 30-minute-awake and 30-minute-sleep EEG samples...
November 2009: Epilepsy & Behavior: E&B
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