Literature DB >> 15739722

Disabilities and cognition in children and adolescents with 22q11 deletion syndrome.

S Oskarsdóttir1, M Belfrage, E Sandstedt, G Viggedal, P Uvebrant.   

Abstract

The purpose of this study was to investigate cognitive and other disabilities in children and adolescents with 22q11 deletion syndrome. Thirty-three children (15 females, 18 males; age range 3 to 19y, median 7y 6mo) with 22q11 deletion were investigated for growth, development, neurology, cognition, motor function, and participation (measured as handicap**). Half of the children had never crawled, although they had shuffled, and commencement of walking was delayed (mean 18mo, SD 6mo). Hypotonia was found in 25 and poor balance in 24 of the 33 children; 17 out of 27 had definite motor problems, including two with spastic hemiplegia. Intelligence quotient (IQ) range was 50 to 100. Eleven patients had an IQ below 70, and 15 between 70 and 84. Verbal IQ was higher than Performance IQ. Level of handicap within the study group was considered moderate, and all but one child had extra support at school. We conclude that children with 22q11 deletion syndrome have multiple neurological, motor, and cognitive problems. Although the severity and number of problems varies, the combination of impairments and disabilities results in a low level of participation.

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Year:  2005        PMID: 15739722     DOI: 10.1017/s0012162205000320

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN: 0012-1622            Impact factor:   5.449


  13 in total

1.  22q11.2 deletion syndrome: are motor deficits more than expected for IQ level?

Authors:  Nancy J Roizen; Anne M Higgins; Kevin M Antshel; Wanda Fremont; Robert Shprintzen; Wendy R Kates
Journal:  J Pediatr       Date:  2010-06-19       Impact factor: 4.406

Review 2.  Behavioral and Psychiatric Phenotypes in 22q11.2 Deletion Syndrome.

Authors:  Kerri L Tang; Kevin M Antshel; Wanda P Fremont; Wendy R Kates
Journal:  J Dev Behav Pediatr       Date:  2015-10       Impact factor: 2.225

3.  Neuromotor deficits in children with the 22q11 deletion syndrome.

Authors:  Christina Sobin; Samantha H Monk; Karen Kiley-Brabeck; Jananne Khuri; Maria Karayiorgou
Journal:  Mov Disord       Date:  2006-12       Impact factor: 10.338

4.  Children with chromosome 22q11.2 deletion syndrome exhibit impaired spatial working memory.

Authors:  Ling M Wong; Tracy Riggins; Danielle Harvey; Margarita Cabaral; Tony J Simon
Journal:  Am J Intellect Dev Disabil       Date:  2014-03

5.  Cognitive and psychiatric predictors to psychosis in velocardiofacial syndrome: a 3-year follow-up study.

Authors:  Kevin M Antshel; Robert Shprintzen; Wanda Fremont; Anne Marie Higgins; Stephen V Faraone; Wendy R Kates
Journal:  J Am Acad Child Adolesc Psychiatry       Date:  2010-04       Impact factor: 8.829

Review 6.  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

7.  HIV associated dementia and HIV encephalitis II: Genes on chromosome 22 expressed in individually microdissected Globus pallidus neurons (Preliminary analysis).

Authors:  Paul Shapshak; Robert Duncan; Pandajarasamme Kangueane; Charurut Somboonwit; John Sinnott; Deborah Commins; Elyse Singer; Andrew Levine
Journal:  Bioinformation       Date:  2011-05-26

8.  Histology of the pharyngeal constrictor muscle in 22q11.2 deletion syndrome and non-syndromic children with velopharyngeal insufficiency.

Authors:  Josine C C Widdershoven; Nicole E Spruijt; Wim G M Spliet; Corstiaan C Breugem; Moshe Kon; Aebele B Mink van der Molen
Journal:  PLoS One       Date:  2011-06-28       Impact factor: 3.240

Review 9.  Genetic Syndromes associated with Congenital Heart Disease.

Authors:  Jung Min Ko
Journal:  Korean Circ J       Date:  2015-07-07       Impact factor: 3.243

10.  Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects.

Authors:  Yingjie Zhao; Tingwei Guo; Ania Fiksinski; Elemi Breetvelt; Donna M McDonald-McGinn; Terrence B Crowley; Alexander Diacou; Maude Schneider; Stephan Eliez; Ann Swillen; Jeroen Breckpot; Joris Vermeesch; Eva W C Chow; Doron Gothelf; Sasja Duijff; Rens Evers; Thérèse A van Amelsvoort; Marianne van den Bree; Michael Owen; Maria Niarchou; Carrie E Bearden; Claudia Ornstein; Maria Pontillo; Antonino Buzzanca; Stefano Vicari; Marco Armando; Kieran C Murphy; Clodagh Murphy; Sixto Garcia-Minaur; Nicole Philip; Linda Campbell; Jaume Morey-Cañellas; Jasna Raventos; Jordi Rosell; Damian Heine-Suner; Robert J Shprintzen; Raquel E Gur; Elaine Zackai; Beverly S Emanuel; Tao Wang; Wendy R Kates; Anne S Bassett; Jacob A S Vorstman; Bernice E Morrow
Journal:  Am J Med Genet A       Date:  2018-10-05       Impact factor: 2.802

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