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Observations on intelligence and behavior in 15 patients with Legius syndrome
Author(s) -
Denayer Ellen,
Descheemaeker MieJef,
Stewart Douglas R.,
Keymolen Kathelijn,
Plasschaert Ellen,
Ruppert Sarah L.,
Snow Joseph,
Thurm Audrey E.,
Joseph Lisa A.,
Fryns JeanPierre,
Legius Eric
Publication year - 2011
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.30297
Subject(s) - cbcl , neurofibromatosis , child behavior checklist , behavioral syndrome , checklist , psychology , cognition , clinical psychology , intelligence quotient , developmental psychology , phenotype , medicine , pediatrics , audiology , psychiatry , pathology , genetics , cognitive psychology , biology , social psychology , gene , personality
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. © 2011 Wiley‐Liss, Inc.