Literature DB >> 15762820

From research to practice: teacher and pediatrician awareness of phenotypic traits in neurogenetic syndromes.

Tammy H Lee1, Christine M Blasey, Jennifer Dyer-Friedman, Bronwyn Glaser, Allan L Reiss, Stephan Eliez.   

Abstract

Pediatricians' and teachers' knowledge of physical, cognitive, and behavioral features associated with three genetic syndromes were assessed and the effectiveness of information sources about these syndromes evaluated. The surveyed sample included 53 pediatricians and 69 teachers from Northern and Central California. Respondents demonstrated limited knowledge regarding the physical phenotype of fragile X syndrome and significantly less knowledge of velo-cardio-facial syndrome (VCFS). In the cognitive and behavioral domains, significantly more was known about Down and fragile X syndromes than VCFS. Pediatricians and teachers make critical treatment and education decisions for children with these syndromes and would benefit from continued professional development about these syndromes through conferences, professional/association publications, in-service teacher training, and journals.

Entities:  

Mesh:

Year:  2005        PMID: 15762820     DOI: 10.1352/0895-8017(2005)110<100:FRTPTA>2.0.CO;2

Source DB:  PubMed          Journal:  Am J Ment Retard        ISSN: 0895-8017


  5 in total

1.  Caregiver and adult patient perspectives on the importance of a diagnosis of 22q11.2 deletion syndrome.

Authors:  G Costain; E W C Chow; P N Ray; A S Bassett
Journal:  J Intellect Disabil Res       Date:  2011-12-06

2.  Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome.

Authors:  Lisa D Palmer; Nancy J Butcher; Erik Boot; Kathleen A Hodgkinson; Tracy Heung; Eva W C Chow; Alina Guna; T Blaine Crowley; Elaine Zackai; Donna M McDonald-McGinn; Anne S Bassett
Journal:  Am J Med Genet A       Date:  2018-04       Impact factor: 2.802

3.  Perceived burden and neuropsychiatric morbidities in adults with 22q11.2 deletion syndrome.

Authors:  D J Karas; G Costain; E W C Chow; A S Bassett
Journal:  J Intellect Disabil Res       Date:  2012-10-29

4.  Neurodevelopment of children under 3 years of age with Smith-Magenis syndrome.

Authors:  Pamela L Wolters; Andrea L Gropman; Staci C Martin; Michaele R Smith; Hanna L Hildenbrand; Carmen C Brewer; Ann C M Smith
Journal:  Pediatr Neurol       Date:  2009-10       Impact factor: 3.372

5.  Identifying Atypical Development: A Role of Day-Care Workers?

Authors:  Dajie Zhang; Iris Krieber-Tomantschger; Luise Poustka; Herbert Roeyers; Jeff Sigafoos; Sven Bölte; Peter B Marschik; Christa Einspieler
Journal:  J Autism Dev Disord       Date:  2019-09
  5 in total

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