Literature DB >> 22754604

Children with 7q11.23 Duplication Syndrome: Speech, Language, Cognitive, and Behavioral Characteristics and their Implications for Intervention.

Shelley L Velleman1, Carolyn B Mervis.   

Abstract

7q11.23 duplication syndrome is a recently-documented genetic disorder associated with severe speech delay, language delay, a characteristic facies, hypotonia, developmental delay, and social anxiety. Developmentally appropriate nonverbal pragmatic abilities are demonstrated in socially comfortable situations. Motor speech disorder (Childhood Apraxia of Speech and/or dysarthria), oral apraxia, and/or phonological disorder or symptoms of these disorders are common as are characteristics consistent with expressive language disorder. Intensive speech/language therapy is critical for maximizing long-term outcomes.

Entities:  

Year:  2011        PMID: 22754604      PMCID: PMC3383616          DOI: 10.1044/lle18.3.108

Source DB:  PubMed          Journal:  Perspect Lang Learn Educ        ISSN: 1940-7742


  12 in total

1.  Developmental apraxia of speech: III. A subtype marked by inappropriate stress.

Authors:  L D Shriberg; D M Aram; J Kwiatkowski
Journal:  J Speech Lang Hear Res       Date:  1997-04       Impact factor: 2.297

Review 2.  Copy number variants at Williams-Beuren syndrome 7q11.23 region.

Authors:  Giuseppe Merla; Nicola Brunetti-Pierri; Lucia Micale; Carmela Fusco
Journal:  Hum Genet       Date:  2010-05-01       Impact factor: 4.132

3.  Varieties of repetitive behavior in autism: comparisons to mental retardation.

Authors:  J W Bodfish; F J Symons; D E Parker; M H Lewis
Journal:  J Autism Dev Disord       Date:  2000-06

4.  Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.

Authors:  Stephan J Sanders; A Gulhan Ercan-Sencicek; Vanessa Hus; Rui Luo; Michael T Murtha; Daniel Moreno-De-Luca; Su H Chu; Michael P Moreau; Abha R Gupta; Susanne A Thomson; Christopher E Mason; Kaya Bilguvar; Patricia B S Celestino-Soper; Murim Choi; Emily L Crawford; Lea Davis; Nicole R Davis Wright; Rahul M Dhodapkar; Michael DiCola; Nicholas M DiLullo; Thomas V Fernandez; Vikram Fielding-Singh; Daniel O Fishman; Stephanie Frahm; Rouben Garagaloyan; Gerald S Goh; Sindhuja Kammela; Lambertus Klei; Jennifer K Lowe; Sabata C Lund; Anna D McGrew; Kyle A Meyer; William J Moffat; John D Murdoch; Brian J O'Roak; Gordon T Ober; Rebecca S Pottenger; Melanie J Raubeson; Youeun Song; Qi Wang; Brian L Yaspan; Timothy W Yu; Ilana R Yurkiewicz; Arthur L Beaudet; Rita M Cantor; Martin Curland; Dorothy E Grice; Murat Günel; Richard P Lifton; Shrikant M Mane; Donna M Martin; Chad A Shaw; Michael Sheldon; Jay A Tischfield; Christopher A Walsh; Eric M Morrow; David H Ledbetter; Eric Fombonne; Catherine Lord; Christa Lese Martin; Andrew I Brooks; James S Sutcliffe; Edwin H Cook; Daniel Geschwind; Kathryn Roeder; Bernie Devlin; Matthew W State
Journal:  Neuron       Date:  2011-06-09       Impact factor: 17.173

5.  Rare de novo and transmitted copy-number variation in autistic spectrum disorders.

Authors:  Dan Levy; Michael Ronemus; Boris Yamrom; Yoon-ha Lee; Anthony Leotta; Jude Kendall; Steven Marks; B Lakshmi; Deepa Pai; Kenny Ye; Andreas Buja; Abba Krieger; Seungtai Yoon; Jennifer Troge; Linda Rodgers; Ivan Iossifov; Michael Wigler
Journal:  Neuron       Date:  2011-06-09       Impact factor: 17.173

6.  Severe expressive-language delay related to duplication of the Williams-Beuren locus.

Authors:  Martin J Somerville; Carolyn B Mervis; Edwin J Young; Eul-Ju Seo; Miguel del Campo; Stephen Bamforth; Ella Peregrine; Wayne Loo; Margaret Lilley; Luis A Pérez-Jurado; Colleen A Morris; Stephen W Scherer; Lucy R Osborne
Journal:  N Engl J Med       Date:  2005-10-20       Impact factor: 91.245

7.  Phonological awareness intervention for children with childhood apraxia of speech.

Authors:  Brigid C Moriarty; Gail T Gillon
Journal:  Int J Lang Commun Disord       Date:  2006 Nov-Dec       Impact factor: 3.020

8.  Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

Authors:  A K Ewart; C A Morris; D Atkinson; W Jin; K Sternes; P Spallone; A D Stock; M Leppert; M T Keating
Journal:  Nat Genet       Date:  1993-09       Impact factor: 38.330

Review 9.  Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development.

Authors:  Lucy R Osborne; Carolyn B Mervis
Journal:  Expert Rev Mol Med       Date:  2007-06-13       Impact factor: 5.600

10.  Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.

Authors:  Nathalie Van der Aa; Liesbeth Rooms; Geert Vandeweyer; Jenneke van den Ende; Edwin Reyniers; Marco Fichera; Corrado Romano; Barbara Delle Chiaie; Geert Mortier; Björn Menten; Anne Destrée; Isabelle Maystadt; Katrin Männik; Ants Kurg; Tiia Reimand; Dom McMullan; Christine Oley; Louise Brueton; Ernie M H F Bongers; Bregje W M van Bon; Rolph Pfund; Sebastien Jacquemont; Alessandra Ferrarini; Danielle Martinet; Connie Schrander-Stumpel; Alexander P A Stegmann; Suzanna G M Frints; Bert B A de Vries; Berten Ceulemans; R Frank Kooy
Journal:  Eur J Med Genet       Date:  2009-02-26       Impact factor: 2.708

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  22 in total

1.  Children with 7q11.23 duplication syndrome: psychological characteristics.

Authors:  Carolyn B Mervis; Bonita P Klein-Tasman; Myra J Huffman; Shelley L Velleman; C Holley Pitts; Danielle R Henderson; Janet Woodruff-Borden; Colleen A Morris; Lucy R Osborne
Journal:  Am J Med Genet A       Date:  2015-04-21       Impact factor: 2.802

Review 2.  Unraveling the genetic architecture of copy number variants associated with schizophrenia and other neuropsychiatric disorders.

Authors:  Timothy P Rutkowski; Jason P Schroeder; Georgette M Gafford; Stephen T Warren; David Weinshenker; Tamara Caspary; Jennifer G Mulle
Journal:  J Neurosci Res       Date:  2016-11-08       Impact factor: 4.164

3.  Modeling Williams syndrome with induced pluripotent stem cells.

Authors:  Thanathom Chailangkarn; Alysson R Muotri
Journal:  Neurogenesis (Austin)       Date:  2017-02-06

4.  Molecularly confirmed Kabuki (Niikawa-Kuroki) syndrome patients demonstrate a specific cognitive profile with extensive visuospatial abnormalities.

Authors:  J Harris; E M Mahone; H T Bjornsson
Journal:  J Intellect Disabil Res       Date:  2019-02-14

5.  The Behavioral Phenotype of 7q11.23 Duplication Syndrome Includes Risk for Oppositional Behavior and Aggression.

Authors:  Bonita P Klein-Tasman; Brianna D Yund; Carolyn B Mervis
Journal:  J Dev Behav Pediatr       Date:  2022-05-17       Impact factor: 2.988

6.  7q11.23 Duplication syndrome: Physical characteristics and natural history.

Authors:  Colleen A Morris; Carolyn B Mervis; Alex P Paciorkowski; Omar Abdul-Rahman; Sarah L Dugan; Alan F Rope; Patricia Bader; Laura G Hendon; Shelley L Velleman; Bonita P Klein-Tasman; Lucy R Osborne
Journal:  Am J Med Genet A       Date:  2015-09-03       Impact factor: 2.802

Review 7.  The 7q11.23 Microduplication Syndrome: A Clinical Report with Review of Literature.

Authors:  Elham Abbas; Devin M Cox; Teri Smith; Merlin G Butler
Journal:  J Pediatr Genet       Date:  2016-06-15

8.  Duplication of GTF2I results in separation anxiety in mice and humans.

Authors:  Carolyn B Mervis; Joana Dida; Emily Lam; Nicole A Crawford-Zelli; Edwin J Young; Danielle R Henderson; Tuncer Onay; Colleen A Morris; Janet Woodruff-Borden; John Yeomans; Lucy R Osborne
Journal:  Am J Hum Genet       Date:  2012-05-10       Impact factor: 11.025

Review 9.  Autism genetics: opportunities and challenges for clinical translation.

Authors:  Jacob A S Vorstman; Jeremy R Parr; Daniel Moreno-De-Luca; Richard J L Anney; John I Nurnberger; Joachim F Hallmayer
Journal:  Nat Rev Genet       Date:  2017-03-06       Impact factor: 53.242

10.  Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.

Authors:  Jennifer Gladys Mulle; Ann E Pulver; John A McGrath; Paula S Wolyniec; Anne F Dodd; David J Cutler; Jonathan Sebat; Dheeraj Malhotra; Gerald Nestadt; Donald F Conrad; Matthew Hurles; Chris P Barnes; Masashi Ikeda; Nakao Iwata; Douglas F Levinson; Pablo V Gejman; Alan R Sanders; Jubao Duan; Adele A Mitchell; Inga Peter; Pamela Sklar; Colm T O'Dushlaine; Detelina Grozeva; Michael C O'Donovan; Michael J Owen; Christina M Hultman; Anna K Kähler; Patrick F Sullivan; George Kirov; Stephen T Warren
Journal:  Biol Psychiatry       Date:  2013-07-17       Impact factor: 13.382

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