Literature DB >> 8494032

Communication, cognition, and social interaction in the Angelman syndrome.

K A Penner1, J Johnston, B H Faircloth, P Irish, C A Williams.   

Abstract

Persons with Angelman syndrome (AS) have mental retardation, epilepsy, and a characteristic "puppet-like" gait. Behaviorally, they are distinctive because they have no speech and have excessive laughter. A speech and communication evaluation of 7 persons with AS was performed to provide improved understanding of the speech deficit. Assessments included prelanguage and language development, oral motor abilities, and cognitive and social interaction skills. Results indicate that the typical lack of speech may not be due to mental retardation alone. Oral motor dyspraxia, and deficits in social interaction and attention were characteristic of AS and contributed to the lack of speech.

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Year:  1993        PMID: 8494032     DOI: 10.1002/ajmg.1320460108

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  17 in total

1.  Social-emotional processing in nonverbal individuals with Angelman syndrome: evidence from brain responses to known and novel names.

Authors:  A P Key; D Jones
Journal:  J Intellect Disabil Res       Date:  2018-11-23

2.  Alterations in white matter pathways in Angelman syndrome.

Authors:  Sarika U Peters; Walter E Kaufmann; Carlos A Bacino; Adam W Anderson; Pavani Adapa; Zili Chu; Ragini Yallampalli; Elfrides Traipe; Jill V Hunter; Elisabeth A Wilde
Journal:  Dev Med Child Neurol       Date:  2010-12-01       Impact factor: 5.449

3.  Angelman syndrome in adulthood.

Authors:  Anna M Larson; Julianna E Shinnick; Elias A Shaaya; Elizabeth A Thiele; Ronald L Thibert
Journal:  Am J Med Genet A       Date:  2014-11-26       Impact factor: 2.802

Review 4.  Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms.

Authors:  Renzo Guerrini; Romeo Carrozzo; Roberta Rinaldi; Paolo Bonanni
Journal:  Paediatr Drugs       Date:  2003       Impact factor: 3.022

Review 5.  Issues in the taxonomy of psychopathology in mental retardation.

Authors:  S L Einfeld; M Aman
Journal:  J Autism Dev Disord       Date:  1995-04

Review 6.  Angelman syndrome - insights into a rare neurogenetic disorder.

Authors:  Karin Buiting; Charles Williams; Bernhard Horsthemke
Journal:  Nat Rev Neurol       Date:  2016-09-12       Impact factor: 42.937

7.  Case report: Angelman syndrome in an individual with a small SMC(15) and paternal uniparental disomy: a case report with reference to the assessment of cognitive functioning and autistic symptomatology.

Authors:  Russell John Thompson; Patrick F Bolton
Journal:  J Autism Dev Disord       Date:  2003-04

Review 8.  The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13.

Authors:  Amber Hogart; David Wu; Janine M LaSalle; N Carolyn Schanen
Journal:  Neurobiol Dis       Date:  2008-09-18       Impact factor: 5.996

9.  Parent report of stereotyped behaviors, social interaction, and developmental disturbances in individuals with Angelman syndrome.

Authors:  Nicolay Chertkoff Walz
Journal:  J Autism Dev Disord       Date:  2007-05

10.  Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness.

Authors:  Andrés Ingason; George Kirov; Ina Giegling; Thomas Hansen; Anthony R Isles; Klaus D Jakobsen; Kari T Kristinsson; Louise le Roux; Omar Gustafsson; Nick Craddock; Hans-Jürgen Möller; Andrew McQuillin; Pierandrea Muglia; Sven Cichon; Marcella Rietschel; Roel A Ophoff; Srdjan Djurovic; Ole A Andreassen; Olli P H Pietiläinen; Leena Peltonen; Emma Dempster; David A Collier; David St Clair; Henrik B Rasmussen; Birte Y Glenthøj; Lambertus A Kiemeney; Barbara Franke; Sarah Tosato; Chiara Bonetto; Evald Saemundsen; Stefán J Hreidarsson; Markus M Nöthen; Hugh Gurling; Michael C O'Donovan; Michael J Owen; Engilbert Sigurdsson; Hannes Petursson; Hreinn Stefansson; Dan Rujescu; Kari Stefansson; Thomas Werge
Journal:  Am J Psychiatry       Date:  2011-02-15       Impact factor: 18.112

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