Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment

American Academy of Pediatrics (AAP) - Tập 139 Số Supplement_3 - Trang S194-S206 - 2017
Walter E. Kaufmann1,2, Sharon A. Kidd3, Howard Andrews4, Dejan B. Budimirovic5, Amy Esler6, Barbara Haas‐Givler7, Tracy Stackhouse8, Catharine Riley9, Georgina Peacock9, Stephanie L. Sherman10, W. Ted Brown11, Elizabeth Berry‐Kravis12
1Department of Neurology, Boston Children's Hospital, Boston, Massachusetts
2Greenwood Genetic Center, Greenwood, South Carolina
3National Fragile X Foundation, Washington, District of Columbia;
4Department of Biostatistics, Columbia University Mailman School of Public Health, New York, New York
5Kennedy Krieger Institute, Baltimore, Maryland
6University of Minnesota, Minneapolis, Minnesota
7Geisinger Health System, Lewisburg, Pennsylvania;
8Developmental FX, Denver, Colorado;
9National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia
10Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia
11New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York; and
12Departments of Pediatrics, Neurological Sciences, and Biochemistry, Rush University Medical Center, Chicago, Illinois;

Tóm tắt

BACKGROUND AND OBJECTIVE:Individuals with fragile X syndrome (FXS) are frequently codiagnosed with autism spectrum disorder (ASD). Most of our current knowledge about ASD in FXS comes from family surveys and small studies. The objective of this study was to examine the impact of the ASD diagnosis in a large clinic-based FXS population to better inform the care of people with FXS.METHODS:The study employed a data set populated by data from individuals with FXS seen at specialty clinics across the country. The data were collected by clinicians at the patient visit and by parent report for nonclinical and behavioral outcomes from September 7, 2012 through August 31, 2014. Data analyses were performed by using χ2 tests for association, t tests, and multiple logistic regression to examine the association between clinical and other factors with ASD status.RESULTS:Half of the males and nearly 20% of females met Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition criteria for current ASD. Relative to the FXS-only group, the FXS with ASD (FXS+ASD) group had a higher prevalence of seizures (20.7% vs 7.6%, P < .001), persistence of sleep problems later in childhood, increased behavior problems, especially aggressive/disruptive behavior, and higher use of α-agonists and antipsychotics. Behavioral services, including applied behavior analysis, appeared to be underused in children with FXS+ASD (only 26% and 16% in prekindergarten and school-age periods, respectively) relative to other populations with idiopathic ASD.CONCLUSIONS:These findings confirm among individuals with FXS an association of an ASD diagnosis with important cooccurring conditions and identify gaps between expected and observed treatments among individuals with FXS+ASD.

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American Academy of Pediatrics (AAP)

Tập 139 Số Supplement_3

S194-S206

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