| Observations on intelligence and behavior in 15 patients with Legius syndrome. | |
| | |
MedLine Citation:
|
PMID: 21495177 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Legius syndrome is a RAS-MAPK syndrome characterized by pigmentary findings similar to neurofibromatosis type 1 (NF1), but without tumor complications. Learning difficulties and behavioral problems have been reported to be associated with Legius syndrome, but have not been studied systematically. We investigated intelligence and behavior in 15 patients with Legius syndrome and 7 unaffected family members. We report a mean full-scale IQ of 101.57 in patients with Legius syndrome, which does not differ from the control group. We find a significantly lower Performance IQ in children with Legius syndrome compared to their unaffected family members. Few behavioral problems are present as assessed by the Child Behavior Checklist (CBCL) questionnaire. Our observations suggest that, akin to the milder somatic phenotype, the cognitive phenotype in Legius syndrome is less severe than that of NF1. |
| | |
Authors:
|
Ellen Denayer; Mie-Jef Descheemaeker; Douglas R Stewart; Kathelijn Keymolen; Ellen Plasschaert; Sarah L Ruppert; Joseph Snow; Audrey E Thurm; Lisa A Joseph; Jean-Pierre Fryns; Eric Legius |
Related Documents
:
|
21548127 - Balanced information about down syndrome: what is essential? 3214367 - Cardiomyopathy and woolly haircoat syndrome of poll hereford cattle: electrocardiograph... 17903407 - Left ventricular apical ballooning syndrome. 17116277 - Is sudden cardiac death predictable in leopard syndrome? 11872187 - Should butalbital-containing analgesics be banned? yes. 21845587 - Ulnar nerve entrapment in guyon's canal due to recurrent carpal tunnel syndrome: case r... |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2011-04-14 |
Journal Detail:
|
Title: American journal of medical genetics. Part C, Seminars in medical genetics Volume: 157 ISSN: 1552-4876 ISO Abbreviation: Am J Med Genet C Semin Med Genet Publication Date: 2011 May |
Date Detail:
|
Created Date: 2011-04-20 Completed Date: 2011-08-09 Revised Date: 2012-05-18 |
Medline Journal Info:
|
Nlm Unique ID: 101235745 Medline TA: Am J Med Genet C Semin Med Genet Country: United States |
Other Details:
|
Languages: eng Pagination: 123-8 Citation Subset: IM |
Copyright Information:
|
2011 Wiley-Liss, Inc. |
Affiliation:
|
Center of Human Genetics from the Catholic University of Leuven, Belgium. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adolescent Behavioral Symptoms / physiopathology* Belgium Cafe-au-Lait Spots / physiopathology Child Child, Preschool Cognition Disorders / physiopathology* Female Humans Intelligence / physiology* Intelligence Tests Male Questionnaires Statistics, Nonparametric |
| Grant Support | |
ID/Acronym/Agency:
|
Z01 HG200329-03/HG/NHGRI NIH HHS |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: The musculoskeletal phenotype of the RASopathies.
Next Document: Skeletal muscle pathology in Costello and cardio-facio-cutaneous syndromes: Developmental consequenc...