Social anxiety and autism spectrum traits among adult FMR1 premutation carriers
Por:
Lopez-Mourelo, O, Mur, E, Madrigal, I, Alvarez-Mora, MI, Gomez-Anson, B, Pagonabarraga, J, Rodriguez-Revenga, L, Mila, M
Publicada:
1 ene 2017
Resumen:
Behavioral symptoms and traits have been proposed as early markers in neurodegenerative diseases. The aim of this study was to evaluate social anxiety and autism in FMR1 premutation carriers using the Social Phobia Inventory (SPIN) and the Autism-Spectrum Quotient (AQ) questionnaires. Fifty-nine premutation carriers were compared with 50 controls. The SPIN test showed statistically significant differences between female but not male carriers. The AQ questionnaire found statistically significant differences between premutation carriers and controls in the total AQ as well as in the social skills and attention switching subdomains. A gender effect was only observed for the social skills subdomain. Spearman's correlation analysis revealed a moderately positive correlation with the total AQ scores as well as the social skills and communication subdomains. Our results show that fragile X-associated tremor/ataxia syndrome (FXTAS) patients have higher AQ scores. Moreover, this is the first study to find statistically significant differences between FXTAS and no-FXTAS premutation carriers in the communication and the imagination subdomains, suggesting that FXTAS patients present a broader autistic phenotype than premutation carriers without FXTAS. Based on our results, a wide range of behavioral/psychiatric traits should be included within the broader phenotypic presentation of individuals with the FMR1 premutation.
Filiaciones:
Lopez-Mourelo, O:
PIC, Parc Recerca UAB, Bellaterra, Spain
Mur, E:
Inst Neuropsiquiatria & Adicc INAD, CSM Marti & Julia, Parc Salut Mar, Barcelona, Spain
Madrigal, I:
Hosp Clin Barcelona, Biochem & Mol Genet Dept, C Villarroel,17008036, Barcelona, Spain
IDIBAPS, Barcelona, Spain
CIBERER, Barcelona, Spain
Alvarez-Mora, MI:
Hosp Clin Barcelona, Biochem & Mol Genet Dept, C Villarroel,17008036, Barcelona, Spain
IDIBAPS, Barcelona, Spain
CIBERER, Barcelona, Spain
Gomez-Anson, B:
Hosp Santa Creu & Sant Pau, IIB, Dept Radiol, Neuroradiol Unit, Barcelona, Spain
Pagonabarraga, J:
St Pau Hosp, Dept Neurol, Movement Disorders Unit, Barcelona, Spain
IIB UAB, Barcelona, Spain
CIBERNED, Barcelona, Spain
Rodriguez-Revenga, L:
Hosp Clin Barcelona, Biochem & Mol Genet Dept, C Villarroel,17008036, Barcelona, Spain
IDIBAPS, Barcelona, Spain
CIBERER, Barcelona, Spain
Mila, M:
Hosp Clin Barcelona, Biochem & Mol Genet Dept, C Villarroel,17008036, Barcelona, Spain
IDIBAPS, Barcelona, Spain
CIBERER, Barcelona, Spain
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