Literature DB >> 10926060

Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychological and language phenotypes.

S Eliez1, F Palacio-Espasa, A Spira, M Lacroix, C Pont, F Luthi, C Robert-Tissot, C Feinstein, D F Schorderet, S E Antonarakis, B Cramer.   

Abstract

This is the first clinical description of a detailed psychological, speech, and language phenotype of four young children (< 5 years) with Velo-Cardio-Facial syndrome (VCFS) due to a deletion on chromosome 22 (22q11.2). The reported elevated risk of developing schizophrenia or bipolar disorder in adolescence for individuals with this chromosomal deletion led us to examine the psychiatric and cognitive status of young children with VCFS. Our observations suggest a phenotype comprised of a borderline to mildly retarded level of intellectual functioning, a language delay, a general deficit in social initiation, difficulties with attention/concentration, and a perturbed train of thought.

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Year:  2000        PMID: 10926060     DOI: 10.1007/s007870050005

Source DB:  PubMed          Journal:  Eur Child Adolesc Psychiatry        ISSN: 1018-8827            Impact factor:   4.785


  10 in total

1.  Corpus callosum morphology and ventricular size in chromosome 22q11.2 deletion syndrome.

Authors:  Alexei M C Machado; Tony J Simon; Vy Nguyen; Donna M McDonald-McGinn; Elaine H Zackai; James C Gee
Journal:  Brain Res       Date:  2006-12-13       Impact factor: 3.252

Review 2.  The SERCA2: A Gatekeeper of Neuronal Calcium Homeostasis in the Brain.

Authors:  Aikaterini Britzolaki; Joseph Saurine; Emily Flaherty; Connor Thelen; Pothitos M Pitychoutis
Journal:  Cell Mol Neurobiol       Date:  2018-04-16       Impact factor: 5.046

3.  Facial emotion perception by intensity in children and adolescents with 22q11.2 deletion syndrome.

Authors:  Arnaud Leleu; Guillaume Saucourt; Caroline Rigard; Gabrielle Chesnoy; Jean-Yves Baudouin; Massimiliano Rossi; Patrick Edery; Nicolas Franck; Caroline Demily
Journal:  Eur Child Adolesc Psychiatry       Date:  2015-07-07       Impact factor: 4.785

4.  Autistic spectrum disorders in velo-cardio facial syndrome (22q11.2 deletion).

Authors:  Kevin M Antshel; Alka Aneja; Leslie Strunge; Jena Peebles; Wanda P Fremont; Kimberly Stallone; Nuria Abdulsabur; Anne Marie Higgins; Robert J Shprintzen; Wendy R Kates
Journal:  J Autism Dev Disord       Date:  2006-12-19

Review 5.  A Synaptic Function Approach to Investigating Complex Psychiatric Diseases.

Authors:  Laurie R Earls; Stanislav S Zakharenko
Journal:  Neuroscientist       Date:  2013-08-01       Impact factor: 7.519

6.  Dysregulation of presynaptic calcium and synaptic plasticity in a mouse model of 22q11 deletion syndrome.

Authors:  Laurie R Earls; Ildar T Bayazitov; Robert G Fricke; Raymond B Berry; Elizabeth Illingworth; Guy Mittleman; Stanislav S Zakharenko
Journal:  J Neurosci       Date:  2010-11-24       Impact factor: 6.167

Review 7.  Converging levels of analysis on a genomic hotspot for psychosis: insights from 22q11.2 deletion syndrome.

Authors:  Matthew J Schreiner; Maria T Lazaro; Maria Jalbrzikowski; Carrie E Bearden
Journal:  Neuropharmacology       Date:  2012-10-23       Impact factor: 5.250

8.  Potential Role of Cortisol in Social and Memory Impairments in Individuals with 22q11.2 Deletion Syndrome.

Authors:  Daniel Jacobson; Megan Bursch; Renee Lajiness-O'Neill
Journal:  J Pediatr Genet       Date:  2016-06-20

Review 9.  In search of the optimal surgical treatment for velopharyngeal dysfunction in 22q11.2 deletion syndrome: a systematic review.

Authors:  Nicole E Spruijt; Judith Reijmanhinze; Greet Hens; Vincent Vander Poorten; Aebele B Mink van der Molen
Journal:  PLoS One       Date:  2012-03-28       Impact factor: 3.240

10.  The genetic overlap of attention deficit hyperactivity disorder and autistic spectrum disorder.

Authors:  Arie J Stam; Patricia F Schothorst; Jacob As Vorstman; Wouter G Staal
Journal:  Appl Clin Genet       Date:  2009-03-10
  10 in total

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