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Language skills and neuropsychological performance in patients with SHH mutations and a holoprosencephaly‐like phenotype
Author(s) -
Santiago Giselda,
Abramides Dagma Venturini Marques,
DeVitto Luciana Paula Maximino,
Ribeiro Lucilene Arilho,
Meira Silvio Garcia,
RichieriCosta Antonio
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31311
Subject(s) - holoprosencephaly , neuropsychology , magnetic resonance imaging , phenotype , hypoplasia , anterior commissure , psychology , neuropsychological assessment , cyst , cognition , pathology , neuroscience , medicine , audiology , biology , genetics , radiology , gene , pregnancy , fetus
Here, we evaluate linguistic skills and neuropsychological performance in a sample of patients with SHH mutations and a holoprosencephaly (HPE)‐like phenotype, a minor form of classic HPE. Our findings suggest that patients with SHH mutations and a HPE‐like phenotype have normal cognitive ratios and significant language impairment. Imaging evaluation by magnetic resonance imaging (MRI) was normal in three patients and in one there was hypoplasia of the anterior commissure and the presence of a temporal cyst, apparently not related to the clinical findings. © 2006 Wiley‐Liss, Inc.