Fragile X syndrome and selective mutism.
This is the first report that details an association between fragile X syndrome (FXS) and selective mutism (SM). This 12-year-old girl with heterozygous full mutation at FMR1 has a long history of social anxiety and shyness in addition to SM. Her sister also has the full mutation and a history of SM that resolved in adolescence. A beneficial response to fluoxetine and psychotherapy is described. The FMR1 mutation appears to be the first gene mutation associated with SM and further studies are recommended to assess what percentage of patients with SM have the FMR1 mutation.
Hagerman
R J
RJ
Child Development Unit, The Children's Hospital, JFK Center for Developmental Disabilities, University of Colorado Health Sciences Center, Denver, USA.
Hills
J
J
Scharfenaker
S
S
Lewis
H
H
D002648:Child; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000150:complications / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D006801:Humans; D009155:Mutism / Q000150:complications / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016601:RNA-Binding Proteins
D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human