Social anxiety and autism spectrum traits among adult FMR1 premutation carriers.
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.
PIC, Parc de Recerca UAB, Bellaterra, Spain.
O
O
López-Mourelo
CSM Martí i Julià, Instituto de Neuropsiquiatría y Adicciones (INAD), Parc de Salut Mar, Barcelona, Spain.
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E
Mur
Biochemical and Molecular Genetics Department, Hospital Clínic and IDIBAPS, and CIBERER, Barcelona, Spain.
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I
Madrigal
Biochemical and Molecular Genetics Department, Hospital Clínic and IDIBAPS, and CIBERER, Barcelona, Spain.
M I
MI
Alvarez-Mora
Neuroradiology Unit, Radiology Department, IIB - Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
B
B
Gómez-Ansón
Movement Disorders Unit, Neurology Department, Sant Pau Hospital and IIB UAB and CIBERNED, Barcelona, Spain.
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J
Pagonabarraga
Biochemical and Molecular Genetics Department, Hospital Clínic and IDIBAPS, and CIBERER, Barcelona, Spain.
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L
Rodriguez-Revenga
Biochemical and Molecular Genetics Department, Hospital Clínic and IDIBAPS, and CIBERER, Barcelona, Spain.
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Milà
D000328:Adult; D000368:Aged; D001008:Anxiety Disorders / Q000235:genetics*; D001259:Ataxia / Q000235:genetics; D001321:Autistic Disorder / Q000235:genetics*; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D000072861:Phobia, Social / Q000235:genetics; D012737:Sex Factors; D012920:Social Behavior Disorders / Q000235:genetics*; D011795:Surveys and Questionnaires; D014202:Tremor / Q000235:genetics; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human
FMR1 premutation; FXTAS; autism; autistic traits; social anxiety; social phobia