Language skills and neuropsychological performance in patients with SHH mutations and a holoprosencephaly-like phenotype.
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.
Santiago
Giselda
G
Division of Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, University of São Paulo, Bauru, Brazil.
Abramides
Dagma Venturini Marques
DV
De-Vitto
Luciana Paula Maximino
LP
Ribeiro
Lucilene Arilho
LA
Meira
Silvio Garcia
SG
Richieri-Costa
Antonio
A
D000293:Adolescent; D000328:Adult; D001938:Brazil; D002648:Child; D002675:Child, Preschool; D003071:Cognition; D005260:Female; D053823:Hedgehog Proteins / Q000235:genetics*; D016142:Holoprosencephaly / Q000235:genetics* / Q000473:pathology / Q000523:psychology*; D006801:Humans; D007360:Intelligence; D007805:Language Development Disorders / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D009483:Neuropsychological Tests; D010641:Phenotype
D053823:Hedgehog Proteins; C509239:SHH protein, human