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Phelan McDermid syndrome

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https://www.readbyqxmd.com/read/28862395/phelan-mcdermid-syndrome-data-network-integrating-patient-reported-outcomes-with-clinical-notes-and-curated-genetic-reports
#1
Cartik Kothari, Maxime Wack, Claire Hassen-Khodja, Sean Finan, Guergana Savova, Megan O'Boyle, Geraldine Bliss, Andria Cornell, Elizabeth J Horn, Rebecca Davis, Jacquelyn Jacobs, Isaac Kohane, Paul Avillach
The heterogeneity of patient phenotype data are an impediment to the research into the origins and progression of neuropsychiatric disorders. This difficulty is compounded in the case of rare disorders such as Phelan-McDermid Syndrome (PMS) by the paucity of patient clinical data. PMS is a rare syndromic genetic cause of autism and intellectual deficiency. In this paper, we describe the Phelan-McDermid Syndrome Data Network (PMS_DN), a platform that facilitates research into phenotype-genotype correlation and progression of PMS by: a) integrating knowledge of patient phenotypes extracted from Patient Reported Outcomes (PRO) data and clinical notes-two heterogeneous, underutilized sources of knowledge about patient phenotypes-with curated genetic information from the same patient cohort and b) making this integrated knowledge, along with a suite of statistical tools, available free of charge to authorized investigators on a Web portal https://pmsdn...
September 1, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28807341/ultrastructural-examination-of-skin-biopsies-may-assist-in-diagnosing-mitochondrial-cytopathy-when-muscle-biopsies-yield-negative-results
#2
John L McAfee, Christine B Warren, Richard A Prayson
Ultrastructural evaluation of skin biopsies has been utilized for diagnosis of mitochondrial disease. This study investigates how frequently skin biopsies reveal mitochondrial abnormalities, correlates skin and muscle biopsy findings, and describes clinical diagnoses rendered following the evaluation. A retrospective review of surgical pathology reports from 1990 to 2015 identified skin biopsies examined by electron microscopy for suspected metabolic disease. A total of 630 biopsies were included from 615 patients...
August 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/28754298/a-novel-shank3-interstitial-microdeletion-in-a-family-with-intellectual-disability-and-brain-mri-abnormalities-resembling-unidentified-bright-objects
#3
Gaetano Terrone, Giuseppina Vitiello, Rita Genesio, Alessandra D'Amico, Floriana Imperati, Lorenzo Ugga, Teresa Giugliano, Giulio Piluso, Lucio Nitsch, Nicola Brunetti-Pierri, Ennio Del Giudice
BACKGROUND: SHANK3 mutations are responsible for Phelan-McDermid syndrome but they are also associated with autism and/or intellectual disability. CASE REPORT: We report a family with four affected individuals including the 37 year-old mother, her 12 year-old male monozygotic twins and 8 year-old daughter harboring a novel SHANK3 interstitial microdeletion. All four members presented with intellectual disability of variable severity. The twins showed brain abnormalities similar to Unidentified Bright Objects (UBOs), typically detected in patients with Neurofibromatosis type 1 (NF1), but they did not display causative mutations in NF1 gene...
July 20, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28753255/comprehensive-analysis-of-two-shank3-and-the-cacna1c-mouse-models-of-autism-spectrum-disorder
#4
Patricia Kabitzke, Daniela Brunner, Dansha He, Pamela A Fazio, Kimberly Cox, Jane Sutphen, Lucinda Thiede, Emily Sabath, Taleen Hanania, Vadim Alexandrov, Randall Rasmusson, Will Spooren, Anirvan Ghosh, Pamela Feliciano, Barbara Biemans, Marta Benedetti, Alice Luo Clayton
To expand, analyze, and extend published behavioral phenotypes relevant to autism spectrum disorder (ASD), we present a study of three ASD genetic mouse models: Feng's Shank3(tm2Gfng) model, hereafter Shank3/F, Jiang's Shank3(tm1Yhj) model, hereafter Shank3/J, and the Cacna1c deletion model. The Shank3 models mimick gene mutations associated with Phelan-McDermid Syndrome and the Cacna1c model recapitulates the deletion underlying Timothy syndrome. The current study utilizes both standard and novel behavioral tests with the same methodology used in our previously published companion report on the Cntnap2 null and 16p11...
July 28, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28576520/clinical-characterization-of-novel-chromosome-22q13-microdeletions
#5
Jennifer F Ha, Ayesha Ahmad, Marci M Lesperance
INTRODUCTION: The advent of chromosome microarray analysis (CMA) for evaluation of patients with multiple congenital anomalies has made it possible to define chromosomal imbalances with greater precision and resolutions significantly smaller than possible by standard G-banded chromosome analysis. We describe two patients with novel chromosomal anomalies involving chromosome 22q13, a locus also associated with Phelan-McDermid syndrome (PMS). OBJECTIVE: We aim to characterize the novel phenotypic and genotypic findings of two patients with 22q13 microdeletions, distinct from PMS, comparing and contrasting with features of PMS...
April 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28428614/homer1b-c-clustering-is-impaired-in-phelan-mcdermid-syndrome-ipscs-derived-neurons
#6
C Vicidomini, L Ponzoni, D Lim, M J Schmeisser, D Reim, N Morello, D Orellana, A Tozzi, V Durante, P Scalmani, M Mantegazza, A A Genazzani, M Giustetto, M Sala, P Calabresi, T M Boeckers, C Sala, C Verpelli
No abstract text is available yet for this article.
May 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28364490/sleep-disturbances-in-individuals-with-phelan-mcdermid-syndrome-correlation-with-caregivers-sleep-quality-and-daytime-functioning
#7
Della Bro, Ruth O'Hara, Michelle Primeau, Andrea Hanson-Kahn, Joachim Hallmayer, Jonathan A Bernstein
Study Objectives: The aims of this study were to document sleep disturbances in individuals with Phelan-McDermid syndrome (PMS), to assess whether these individuals had been evaluated for sleep disorders, and to examine relationships between the sleep behavior of these individuals and the sleep behavior and daytime functioning of their caregivers. Methods: Participants were 193 caregivers of individuals with PMS recruited by the Phelan-McDermid Syndrome Foundation...
February 1, 2017: Sleep
https://www.readbyqxmd.com/read/28346892/characterizing-regression-in-phelan-mcdermid-syndrome-22q13-deletion-syndrome
#8
Gillian Reierson, Jon Bernstein, Wendy Froehlich-Santino, Alexander Urban, Carolin Purmann, Sean Berquist, Josh Jordan, Ruth O'Hara, Joachim Hallmayer
PURPOSE: To describe the frequency and characteristics of developmental regression in a sample of 50 patients with Phelan McDermid Syndrome (PMS) and investigate the possibility of association between regression, epilepsy, and electroencephalogram (EEG) abnormalities and deletion size. METHODS: The Autism Diagnostic Interview-Revised (ADI-R) was used to evaluate regression in patients with a confirmed diagnosis of PMS. Information on seizure history and EEGs was obtained from medical record review...
August 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/28345660/zinc-deficiency-and-low-enterocyte-zinc-transporter-expression-in-human-patients-with-autism-related-mutations-in-shank3
#9
Stefanie Pfaender, Ann Katrin Sauer, Simone Hagmeyer, Katharina Mangus, Leonhard Linta, Stefan Liebau, Juergen Bockmann, Guillaume Huguet, Thomas Bourgeron, Tobias M Boeckers, Andreas M Grabrucker
Phelan McDermid Syndrome (PMDS) is a genetic disorder characterized by features of Autism spectrum disorders. Similar to reports of Zn deficiency in autistic children, we have previously reported high incidence of Zn deficiency in PMDS. However, the underlying mechanisms are currently not well understood. Here, using inductively coupled plasma mass-spectrometry to measure the concentration of Zinc (Zn) and Copper (Cu) in hair samples from individuals with PMDS with 22q13.3 deletion including SHANK3 (SH3 and multiple ankyrin repeat domains 3), we report a high rate of abnormally low Zn/Cu ratios...
March 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28320496/phelan-mcdermid-syndrome
#10
Gayle Leary Omansky, Elisa Abdulhayoglu, Bella Zhurbilo
Phelan-McDermid syndrome is a rare neurodevelopmental syndrome associated with severe intellectual disability, motor delay, and autistic traits. This article reviews a case of a complicated presentation of Phelan-McDermid syndrome and addresses etiology, diagnosis, and management.
March 1, 2017: Neonatal Network: NN
https://www.readbyqxmd.com/read/28289594/a-9-year-old-girl-with-phelan-mcdermid-syndrome-who-had-been-diagnosed-with-an-autism-spectrum-disorder
#11
I Görker, H Gürkan, S Demir Ulusal, E Atlı, E Ikbal Atlı
Phelan McDermid Syndrome (PHMDS) (OMIM #606232), is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. The 22q13.3 deletions and mutations that lead to a loss of a functional copy of SHANK3 (OMIM *606230) cause the syndrome, characterized by moderate to profound intellectual disability, severely delayed or absent speech, hypotonia, and autism spectrum disorder (ASD) or ASD traits. In this study, we present the case of a 9-year-old girl who had earlier been diagnosed with an ASD...
December 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28284396/pyridoxal-phosphate-supplementation-in-neuropediatric-disorders
#12
Elisenda Cortès-Saladelafont, Marta Molero-Luis, Hsjd Working Group, Rafael Artuch, Àngels García-Cazorla
Pyridoxal phosphate (PLP) is the active form of vitamin B6 and a cofactor in many enzyme reactions including neurotransmitter metabolism. PLP metabolism disturbances may mostly lead to refractory seizures. In this report, we review the main pathophysiological factors related with PLP deficiency and our experience in PLP treatment in pediatric patients with low-normal cerebrospinal fluid PLP values who presented epilepsy. Only one case had a definite diagnosis (Phelan-McDermid syndrome). The results of extensive metabolic workups and targeted genetic studies were normal for all patients...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28261056/proteomic-analysis-of-post-synaptic-density-fractions-from-shank3-mutant-mice-reveals-brain-region-specific-changes-relevant-to-autism-spectrum-disorder
#13
Dominik Reim, Ute Distler, Sonja Halbedl, Chiara Verpelli, Carlo Sala, Juergen Bockmann, Stefan Tenzer, Tobias M Boeckers, Michael J Schmeisser
Disruption of the human SHANK3 gene can cause several neuropsychiatric disease entities including Phelan-McDermid syndrome, autism spectrum disorder (ASD), and intellectual disability. Although, a wide array of neurobiological studies strongly supports a major role for SHANK3 in organizing the post-synaptic protein scaffold, the molecular processes at synapses of individuals harboring SHANK3 mutations are still far from being understood. In this study, we biochemically isolated the post-synaptic density (PSD) fraction from striatum and hippocampus of adult Shank3Δ11(-/-) mutant mice and performed ion-mobility enhanced data-independent label-free LC-MS/MS to obtain the corresponding PSD proteomes (Data are available via ProteomeXchange with identifier PXD005192)...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28255759/language-environment-analysis-lena-in-phelan-mcdermid-syndrome-validity-and-suggestions-for-use-in-minimally-verbal-children-with-autism-spectrum-disorder
#14
Jacquelin Rankine, Erin Li, Stacey Lurie, Hillary Rieger, Emily Fourie, Paige M Siper, A Ting Wang, Joseph D Buxbaum, Alexander Kolevzon
Phelan-McDermid syndrome (PMS) is a single-locus cause of developmental delay, autism spectrum disorder, and minimal verbal abilities. There is an urgent need to identify objective outcome measures of expressive language for use in this and other minimally verbal populations. One potential tool is an automated language processor called Language ENvironment Analysis (LENA). LENA was used to obtain over 542 h of audio in 18 children with PMS. LENA performance was adequate in a subset of children with PMS, specifically younger children and those with fewer stereotypic vocalizations...
March 2, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28139198/oxytocin-improves-behavioral-and-electrophysiological-deficits-in-a-novel-shank3-deficient-rat
#15
Hala Harony-Nicolas, Maya Kay, Johann du Hoffmann, Matthew E Klein, Ozlem Bozdagi-Gunal, Mohammed Riad, Nikolaos P Daskalakis, Sankalp Sonar, Pablo E Castillo, Patrick R Hof, Matthew L Shapiro, Mark G Baxter, Shlomo Wagner, Joseph D Buxbaum
Mutations in the synaptic gene SHANK3 lead to a neurodevelopmental disorder known as Phelan-McDermid syndrome (PMS). PMS is a relatively common monogenic and highly penetrant cause of autism spectrum disorder (ASD) and intellectual disability (ID), and frequently presents with attention deficits. The underlying neurobiology of PMS is not fully known and pharmacological treatments for core symptoms do not exist. Here, we report the production and characterization of a Shank3-deficient rat model of PMS, with a genetic alteration similar to a human SHANK3 mutation...
January 31, 2017: ELife
https://www.readbyqxmd.com/read/28018439/phelan-mcdermid-syndrome-presenting-with-developmental-delays-and-facial-dysmorphisms
#16
Yoon-Myung Kim, In-Hee Choi, Jun Suk Kim, Ja Hye Kim, Ja Hyang Cho, Beom Hee Lee, Gu-Hwan Kim, Jin-Ho Choi, Eul-Ju Seo, Han-Wook Yoo
Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3, RAB, RABL2B, and IB2 are responsible for the neurological features. This study describes the clinical features and outcomes of Korean patients with Phelan-McDermid syndrome. Two patients showing global developmental delay, hypotonia, and speech delay were diagnosed with Phelan-McDermid syndrome via chromosome analysis, fluorescent in situ hybridization, and multiplex ligation-dependent probe amplification analysis...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/27923425/sleep-disturbances-in-individuals-with-phelan-mcdermid-syndrome-correlation-with-caregivers-sleep-quality-and-daytime-functioning
#17
Della Bro, Ruth O'Hara, Michelle Primeau, Andrea Hanson-Kahn, Joachim Hallmayer, Jonathan A Bernstein
STUDY OBJECTIVES: The aims of this study were: to document sleep disturbances in individuals with Phelan-McDermid syndrome, to assess whether these individuals had been evaluated for sleep disorders, and to examine relationships between the sleep behavior of these individuals and the sleep behavior and daytime functioning of their caregivers. METHODS: Participants were 193 caregivers of individuals with Phelan-McDermid Syndrome recruited by the Phelan-McDermid Syndrome Foundation...
November 28, 2016: Sleep
https://www.readbyqxmd.com/read/27856360/sensitivity-to-isoflurane-anesthesia-increases-in-autism-spectrum-disorder-shank3-%C3%A2-c-mutant-mouse-model
#18
Changsheng Li, Michele Schaefer, Christy Gray, Ya Yang, Orion Furmanski, Sufang Liu, Paul Worley, C David Mintz, Feng Tao, Roger A Johns
Autism is a heterogeneous developmental disorder characterized by impaired social interaction, impaired communication skills, and restricted and repetitive behavior. The abnormal behaviors of these patients can make their anesthetic and perioperative management difficult. Evidence in the literature suggests that some patients with autism or specific autism spectrum disorders (ASD) exhibit altered responses to pain and to anesthesia or sedation. A genetic mouse model of one particular ASD, Phelan McDermid Syndrome, has been developed that has a Shank3 haplotype truncation (Shank3(+/Δc))...
March 2017: Neurotoxicology and Teratology
https://www.readbyqxmd.com/read/27746717/insulin-like-growth-factor-1-and-related-compounds-in-the-treatment-of-childhood-onset-neurodevelopmental-disorders
#19
REVIEW
Cyrus Vahdatpour, Adam H Dyer, Daniela Tropea
Insulin-Like Growth Factor 1 (IGF-1) is a neurotrophic polypeptide with crucial roles to play in Central Nervous System (CNS) growth, development and maturation. Following interrogation of the neurobiology underlying several neurodevelopmental disorders and Autism Spectrum Disorders (ASD), both recombinant IGF-1 (mecasermin) and related derivatives, such as (1-3)IGF-1, have emerged as potential therapeutic approaches. Clinical pilot studies and early reports have supported the safety/preliminary efficacy of IGF-1 and related compounds in the treatment of Rett Syndrome, with evidence mounting for its use in Phelan McDermid Syndrome and Fragile X Syndrome...
2016: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/27741506/clinical-and-genomic-evaluation-of-a-chinese-patient-with-a-novel-deletion-associated-with-phelan-mcdermid-syndrome
#20
Dongzhu Lei, Shaoyuan Li, Santasree Banerjee, Haoqing Zhang, Caiyun Li, Shuai Hou, Danjing Chen, Haiying Yan, Hanmei Li, Huan Huan Peng, Saijun Liu, Xinxin Zhang, Zhiyu Peng, Jian Wang, Huanming Yang, Hui Huang, Jing Wu
Phelan-McDermid syndrome is a neurodevelopmental disorder caused by the terminal deletion of chromosome 22 (22q13) followed by the loss of function of the SHANK3 gene. Various terminal deletions of chromosome 22q13 are associated with Phelan-McDermid with a spectrum of phenotypic severity. Here, we have done a clinical molecular study of a Chinese proband with Phelan-McDermid syndrome. Both the proband and her younger brother are associated with this syndrome while their parents are phenotypically normal. We used a karyotype in order to detect the genotype of the proband and her younger brother...
December 6, 2016: Oncotarget
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