Literature DB >> 10907715

Communication disorders in the 22Q11.2 microdeletion syndrome.

C B Solot1, C Knightly, S D Handler, M Gerdes, D M McDonald-McGinn, E Moss, P Wang, M Cohen, P Randall, D Larossa, D A Driscoll.   

Abstract

The 22q11.2 microdeletion syndrome is a genetic disorder that is being recognized with increasing frequency. Confirmation of the diagnosis can be made using fluorescence in situ hybridization. Many medical and developmental problems are present in children with this syndrome. Communication disorders are among the most common features of this syndrome and include articulation, language, resonance, and voice problems. The purpose of this paper is to provide a description of the communicative and developmental features in a sample of children with the 22q11.2 microdeletion syndrome seen for evaluation. Because communication and feeding disorders may be presenting features of this syndrome, speech and language pathologists must be familiar with this syndrome and its various characteristics. Awareness of these features and a multidisciplinary approach are necessary for the identification and treatment of the complex communicative and medical problems present in this population.

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Year:  2000        PMID: 10907715     DOI: 10.1016/s0021-9924(00)00018-6

Source DB:  PubMed          Journal:  J Commun Disord        ISSN: 0021-9924            Impact factor:   2.288


  13 in total

1.  Early language measures associated with later psychosis features in 22q11.2 deletion syndrome.

Authors:  Cynthia B Solot; Tyler M Moore; Terrence Blaine Crowley; Marsha Gerdes; Edward Moss; Daniel E McGinn; Beverly S Emanuel; Elaine H Zackai; Sean Gallagher; Monica E Calkins; Kosha Ruparel; Ruben C Gur; Donna M McDonald-McGinn; Raquel E Gur
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2020-07-27       Impact factor: 3.568

Review 2.  A review of neurocognitive and behavioral profiles associated with 22q11 deletion syndrome: implications for clinical evaluation and treatment.

Authors:  Opal Ousley; Kimberly Rockers; Mary Lynn Dell; Karlene Coleman; Joseph F Cubells
Journal:  Curr Psychiatry Rep       Date:  2007-04       Impact factor: 5.285

Review 3.  22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia.

Authors:  Maria Karayiorgou; Tony J Simon; Joseph A Gogos
Journal:  Nat Rev Neurosci       Date:  2010-06       Impact factor: 34.870

4.  Differences in the Tensor Veli Palatini Muscle and Hearing Status in Children With and Without 22q11.2 Deletion Syndrome.

Authors:  Jamie L Perry; Katelyn J Kotlarek; Kelly Spoloric; Adriane Baylis; Lakshmi Kollara; Jonathan M Grischkan; Richard Kirschner; David Gregory Bates; Mark Smith; Ursula Findlen
Journal:  Cleft Palate Craniofac J       Date:  2019-08-25

Review 5.  LINE-1 retrotransposons in healthy and diseased human brain.

Authors:  Nicole A Suarez; Angela Macia; Alysson R Muotri
Journal:  Dev Neurobiol       Date:  2017-12-29       Impact factor: 3.964

6.  Quality of life among children with velocardiofacial syndrome.

Authors:  Wendy S Looman; Anna K Thurmes; Susan K O'Conner-Von
Journal:  Cleft Palate Craniofac J       Date:  2010-05

7.  Tbx1: identification of a 22q11.2 gene as a risk factor for autism spectrum disorder in a mouse model.

Authors:  Takeshi Hiramoto; Gina Kang; Go Suzuki; Yasushi Satoh; Raju Kucherlapati; Yasuhiro Watanabe; Noboru Hiroi
Journal:  Hum Mol Genet       Date:  2011-09-09       Impact factor: 6.150

8.  Congenital portosystemic venous shunt associated with 22q11.2 deletion syndrome: a case report.

Authors:  Toshinobu Ifuku; Sayo Suzuki; Yusaku Nagatomo; Ryohei Yokoyama; Yoshiko Yamamura; Keigo Nakatani
Journal:  BMC Pediatr       Date:  2022-06-29       Impact factor: 2.567

Review 9.  22q11.2 deletion syndrome.

Authors:  Donna M McDonald-McGinn; Kathleen E Sullivan; Bruno Marino; Nicole Philip; Ann Swillen; Jacob A S Vorstman; Elaine H Zackai; Beverly S Emanuel; Joris R Vermeesch; Bernice E Morrow; Peter J Scambler; Anne S Bassett
Journal:  Nat Rev Dis Primers       Date:  2015-11-19       Impact factor: 52.329

10.  Mouse Models of 22q11.2-Associated Autism Spectrum Disorder.

Authors:  Noboru Hiroi; Takeshi Hiramoto; Kathryn M Harper; Go Suzuki; Shuken Boku
Journal:  Autism Open Access       Date:  2012
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