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Angelman syndrome

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https://www.readbyqxmd.com/read/29774207/overview-of-social-cognitive-dysfunctions-in-rare-developmental-syndromes-with-psychiatric-phenotype
#1
REVIEW
Aurore Morel, Elodie Peyroux, Arnaud Leleu, Emilie Favre, Nicolas Franck, Caroline Demily
Rare neurodevelopmental syndromes often present social cognitive deficits that may underlie difficulties in social interactions and increase the risk of psychosis or autism spectrum disorders. However, little is known regarding the specificities of social cognitive impairment across syndromes while it remains a major challenge for the care. Our review provides an overview of social cognitive dysfunctions in rare diseases associated with psychiatric symptoms (with a prevalence estimated between 1 in 1,200 and 1 in 25,000 live births: 22q11...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29740280/common-ribs-of-inhibitory-synaptic-dysfunction-in-the-umbrella-of-neurodevelopmental-disorders
#2
REVIEW
Rachel Ali Rodriguez, Christina Joya, Rochelle M Hines
The term neurodevelopmental disorder (NDD) is an umbrella term used to group together a heterogeneous class of disorders characterized by disruption in cognition, emotion, and behavior, early in the developmental timescale. These disorders are heterogeneous, yet they share common behavioral symptomatology as well as overlapping genetic contributors, including proteins involved in the formation, specialization, and function of synaptic connections. Advances may arise from bridging the current knowledge on synapse related factors indicated from both human studies in NDD populations, and in animal models...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29737626/identification-of-spatiotemporal-gait-parameters-and-pressure-related-characteristics-in-children-with-angelman-syndrome-a-pilot-study
#3
Joseph C Grieco, Arnaud Gouelle, Edwin J Weeber
BACKGROUND: Angelman syndrome (AS) leads to clinical manifestations that include intellectual impairments, developmental delay and poor motor function. Initiatives to develop therapeutics implie an urgent need to identify methods that accurately measure the motor abilities. METHODS: Six children with AS (6 to 9 years old) walked on an instrumented walkway to get spatiotemporal parameters (STPs) and center of pressure (CoP). These outcomes were compared to typically developing children (TD): 44 TD 6 to 9 years old and 20 TD 4 to 5 years old...
May 8, 2018: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/29737008/two-angelman-families-with-unusually-advanced-neurodevelopment-carry-a-start-codon-variant-in-the-most-highly-expressed-ube3a-isoform
#4
Anjali Sadhwani, Neville E Sanjana, Jennifer M Willen, Stephen N Calculator, Emily D Black, Lora J H Bean, Hong Li, Wen-Hann Tan
We present three children from two unrelated families with Angelman syndrome (AS) whose developmental skills are far more advanced than any other non-mosaic AS individual ever reported. All have normal gait and use syntactic language spontaneously to express their needs. All of them have a c.2T > C (p.Met1Thr) variant in UBE3A, which abrogates the start codon of isoform 1, but not of isoforms 2 and 3. This variant was maternally inherited in one set of siblings, but de novo in the other child from the unrelated family...
May 7, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29719672/abnormal-coherence-and-sleep-composition-in-children-with-angelman-syndrome-a-retrospective-eeg-study
#5
Hanna den Bakker, Michael S Sidorov, Zheng Fan, David J Lee, Lynne M Bird, Catherine J Chu, Benjamin D Philpot
Background: Angelman syndrome (AS) is a neurodevelopmental disorder characterized by intellectual disability, speech and motor impairments, epilepsy, abnormal sleep, and phenotypic overlap with autism. Individuals with AS display characteristic EEG patterns including high-amplitude rhythmic delta waves. Here, we sought to quantitatively explore EEG architecture in AS beyond known spectral power phenotypes. We were motivated by studies of functional connectivity and sleep spindles in autism to study these EEG readouts in children with AS...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29718831/generalized-and-lateralized-rhythmic-patterns
#6
Sarah E Schmitt
The relationship between generalized and lateralized rhythmic delta activity (RDA) and seizures is more ambiguous than the relationship between periodic discharges and seizures. Although frontally predominant generalized RDA is not associated with seizures, occipitally predominant RDA may be associated with the absence of seizures. Lateralized RDA seems to be more strongly associated with the presence of seizure activity. Appropriate recognition of generalized RDA and lateralized rhythmic delta activity may be confounded by benign etiologies of RDA, such as phi rhythm, slow alpha variant, subclinical rhythmic electrographic discharges of adults, or hyperventilation-induced high-amplitude rhythmic slowing...
May 2018: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/29696750/angelman-syndrome-in-adolescence-and-adulthood-a-retrospective-chart-review-of-53-cases
#7
Ankita Prasad, Olivia Grocott, Kimberly Parkin, Anna Larson, Ronald L Thibert
Angelman syndrome is a neurogenetic disorder with varying clinical presentations and symptoms as the individual ages. The goal of this study was to characterize changes over time in the natural history of this syndrome in a large population. We reviewed the medical records of the 53 patients who were born prior to 2000 and seen at the Angelman Syndrome Clinic at Massachusetts General Hospital to assess neurological, sleep, behavioral, gastrointestinal, orthopedic, and ophthalmologic functioning. The average age of this cohort was 24 years...
April 25, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29696471/comprehensive-meta-analysis-reveals-association-between-multiple-imprinting-disorders-and-conception-by-assisted-reproductive-technology
#8
REVIEW
Victoria K Cortessis, Moosa Azadian, James Buxbaum, Fatimata Sanogo, Ashley Y Song, Intira Sriprasert, Pengxiao C Wei, Jing Yu, Karine Chung, Kimberly D Siegmund
PURPOSE: To determine whether a history of conception by assisted reproductive technology (ART) is associated with occurrence of one or more imprinting disorders of either maternal or paternal origin. METHODS: We implemented a systematic review of scholarly literature followed by comprehensive meta-analysis to quantitatively synthesize data from reports relating to use of ART to occurrence of any imprinting disorder of humans, including Beckwith-Wiedemann (BWS), Angelman (AS), Prader-Willi (PWS), and Silver-Russell (SRS) syndromes, as well as transient neonatal diabetes mellitus (TNDB) and sporadic retinoblasoma (RB)...
April 25, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29696118/anesthetic-considerations-for-angelman-syndrome-case-series-and-review-of-the-literature
#9
Mary Ellen Warner, David P Martin, Mark A Warner, Ralitza H Gavrilova, Juraj Sprung, Toby N Weingarten
Background: Angelman syndrome is a rare neurodevelopmental disorder characterized by intellectual disability, severe speech impairment, ataxia, seizures, happy demeanor, distinctive craniofacial features, high vagal tone, and gamma-amino butyric acid receptor abnormalities. The aim of this report is to review our experience of patients with Angelman syndrome undergoing anesthetic management. Methods: We retrospectively reviewed perioperative course of patients with Angelman syndrome who underwent procedures under anesthesia from 2000 to 2016...
October 2017: Anesthesiology and Pain Medicine
https://www.readbyqxmd.com/read/29691480/an-estimation-of-the-prevalence-of-genomic-disorders-using-chromosomal-microarray-data
#10
Madelyn A Gillentine, Philip J Lupo, Pawel Stankiewicz, Christian P Schaaf
Multiple genomic disorders result from recurrent deletions or duplications between low copy repeat (LCR) clusters, mediated by nonallelic homologous recombination. These copy number variants (CNVs) often exhibit variable expressivity and/or incomplete penetrance. However, the population prevalence of many genomic disorders has not been estimated accurately. A subset of genomic disorders similarly characterized by CNVs between LCRs have been studied epidemiologically, including Williams-Beuren syndrome (7q11...
April 24, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29675084/two-sisters-with-angelman-syndrome-a-case-series-report
#11
Çelebi Kocaoğlu
Angelman syndrome (AS) is known as an intellectual disability related to speech impairment, ataxia and behavioral uniqueness, including a combination of frequent laughter and smiling, apparent happy demeanor, excitable personality and hypermotor behavior. In this report, we present a 5-year-old girl with AS associated with atypical clinical manifestations, including developmental dysplasia of the hip and simian line in the right hand, and her elder sister with AS. Even if any gene mutation cannot be demonstrated, it should be kept in mind that different mutations may exist in the cases that are the suggestive of clinical AS...
October 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29671635/mental-health-and-well-being-in-mothers-of-children-with-rare-genetic-syndromes-showing-chronic-challenging-behavior-a-cross-sectional-and-longitudinal-study
#12
Dawn Adams, Samantha Clarke, Gemma Griffith, Pat Howlin, Jo Moss, Jane Petty, Penny Tunnicliffe, Chris Oliver
It is well documented that mothers of children with challenging behavior (CB) experience elevated levels of stress and that this persists over time, but less is known about the experience of mothers of children with rare genetic syndromes. This article describes 2 studies, 1 cross-sectional and 1 longitudinal, comparing well-being in mothers of children with Angelman, Cornelia de Lange and Cri du Chat syndrome who have either shown chronic CB ( n = 18) or low/no CB ( n = 26) in the preceding 7 years. The presence of chronic, long-term CB increased maternal stress but not depression or anxiety, and did not influence positive well-being...
May 2018: American Journal on Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/29643790/a-case-of-fundus-oculi-albinoticus-diagnosed-as-angelman-syndrome-by-genetic-testing
#13
Yurie Fukiyama, Masahiro Tonari, Junko Matsuo, Hidehiro Oku, Jun Sugasawa, Shuichi Shimakawa, Tohru Ogihara, Nobuhiko Okamoto, Tsunehiko Ikeda
Purpose: To report a case of fundus oculi albinoticus diagnosed as Angelman syndrome (AS) via genetic testing. Case Report: This study reports on a 4-year-old boy. Since he had been having respiratory disturbance since birth, he underwent a complete physical examination to investigate the cause. The results indicated that he had various brain congenital abnormalities, such as a thin corpus callosum, as well as hydronephrosis, an atrial septal defect, and skin similar to patients with fundus oculi albinoticus...
January 2018: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/29621152/taurine-administration-recovers-motor-and-learning-deficits-in-an-angelman-syndrome-mouse-model
#14
Sara Guzzetti, Luciano Calzari, Lucia Buccarello, Valentina Cesari, Ivan Toschi, Stefania Cattaldo, Alessandro Mauro, Francesca Pregnolato, Silvia Michela Mazzola, Silvia Russo
Angelman syndrome (AS, MIM 105830) is a rare neurodevelopmental disorder affecting 1:10-20,000 children. Patients show moderate to severe intellectual disability, ataxia and absence of speech. Studies on both post-mortem AS human brains and mouse models revealed dysfunctions in the extra synaptic gamma-aminobutyric acid (GABA) receptors implicated in the pathogenesis. Taurine is a free intracellular sulfur-containing amino acid, abundant in brain, considered an inhibiting neurotransmitter with neuroprotective properties...
April 5, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29597185/diazepam-for-outpatient-treatment-of-nonconvulsive-status-epilepticus-in-pediatric-patients-with-angelman-syndrome
#15
Lila Worden, Olivia Grocott, Amanda Tourjee, Fonda Chan, Ronald Thibert
Nonconvulsive status epilepticus (NCSE) is present in multiple pediatric neurogenetic syndromes with epileptic encephalopathies. While intravenous (IV) medications are used inpatient for treatment of critical illness-related NCSE, there is no consensus on treatment of ambulatory NCSE. Up to 50% of patients with Angelman syndrome (AS) have NCSE with myoclonic or atypical absence status. Here we report our experience in pediatric patients with AS and NCSE treated outpatient with a tapering course of oral diazepam...
March 26, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29572195/biallelic-unc80-mutations-caused-infantile-hypotonia-with-psychomotor-retardation-and-characteristic-facies-2-in-two-chinese-patients-with-variable-phenotypes
#16
Yunjuan He, Xing Ji, Hui Yan, Xiantao Ye, Yu Liu, Wei Wei, Bing Xiao, Yu Sun
Biallelic UNC80 mutations cause infantile hypotonia with psychomotor retardation and characteristic facies 2 (IHPRF2), which is characterized by hypotonia, developmental delay (DD)/intellectual disability (ID), intrauterine growth retardation, postnatal growth retardation and characteristic facial features. We report two unrelated Chinese patients with compound heterozygous UNC80 mutations inherited from their parents, as identified by whole-exome sequencing (WES). Mutations c.3719G>A (p.W1240*)/c.4926_4937del (p...
March 20, 2018: Gene
https://www.readbyqxmd.com/read/29566378/adrenal-insufficiency-sex-reversal-and-angelman-syndrome-due-to-uniparental-disomy-unmasking-a-mutation-in-cyp11a1
#17
Ahlee Kim, Masanobu Fujimoto, Vivian Hwa, Philippe Backeljauw, Andrew Dauber
BACKGROUND/AIMS: Cholesterol side-chain cleavage enzyme (P450scc) deficiency is a rare genetic disorder causing primary adrenal insufficiency with or without a 46,XY disorder of sexual development (DSD). Herein, we report a case of the combination of primary adrenal insufficiency, a DSD (testes with female external genitalia in a setting of a 47,XXY karyotype), and Angelman syndrome. METHODS: Comprehensive genetic analyses were performed, including a single nucleotide polymorphism microarray and whole-exome sequencing...
2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29555100/myoclonus-in-angelman-syndrome
#18
Sarah F Pollack, Olivia R Grocott, Kimberly A Parkin, Anna M Larson, Ronald L Thibert
Angelman syndrome (AS) is a neurogenetic imprinting disorder caused by loss of the maternally inherited Ube3a gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and movement disorders. Myoclonic seizures are often the first seizure type to appear, and myoclonic status, associated with developmental regression, may occur in the first few years of life. Additionally, there have been rare reports of prolonged episodes of myoclonus without electrographic correlate in adults with AS...
March 16, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29524138/purified-protein-delivery-to-activate-an-epigenetically-silenced-allele-in-mouse-brain
#19
Benjamin Pyles, Barbara J Bailus, Henriette O'Geen, David J Segal
The ability to activate or repress specific genes in the brain could have a tremendous impact for understanding and treating neurological disorders. Artificial transcription factors based on zinc finger, TALE, and CRISPR/Cas9 programmable DNA-binding platforms have been widely used to regulate the expression of specific genes in cultured cells, but their delivery into the brain represents a critical challenge to apply such tools in live animals. In previous work, we developed a purified, zinc finger-based artificial transcription factor that could be injected systemically, cross the blood-brain barrier, and alter expression of a specific gene in the brain of an adult mouse model of Angelman syndrome...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29516994/corrigendum-angelman-syndrome-derived-neurons-display-late-onset-of-paternal-ube3a-silencing
#20
Jana Stanurova, Anika Neureiter, Michaela Hiber, Hannah de Oliveira Kessler, Kristin Stolp, Roman Goetzke, Diana Klein, Agnes Bankfalvi, Hannes Klump, Laura Steenpass
This corrects the article DOI: 10.1038/srep30792.
March 8, 2018: Scientific Reports
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