Autism spectrum disorder in fragile X syndrome: Cooccurring conditions and current treatment

Walter E. Kaufmann, Sharon A. Kidd, Howard F. Andrews, Dejan B. Budimirovic, Amy Esler, Barbara Haas-Givler, Tracy Stackhouse, Catharine Riley, Georgina Peacock, Stephanie L. Sherman, W. Ted Brown, Elizabeth Berry-Kravis

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)S194-S206
JournalPediatrics
Volume139
DOIs
StatePublished - Jun 1 2017
Externally publishedYes

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Fragile X Syndrome
Pervasive Child Development Disorders
Diagnostic and Statistical Manual of Mental Disorders
Antipsychotic Agents
Sleep
Seizures
Logistic Models
Datasets

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Kaufmann, W. E., Kidd, S. A., Andrews, H. F., Budimirovic, D. B., Esler, A., Haas-Givler, B., ... Berry-Kravis, E. (2017). Autism spectrum disorder in fragile X syndrome: Cooccurring conditions and current treatment. Pediatrics, 139, S194-S206. DOI: 10.1542/peds.2016-1159F

Autism spectrum disorder in fragile X syndrome : Cooccurring conditions and current treatment. / Kaufmann, Walter E.; Kidd, Sharon A.; Andrews, Howard F.; Budimirovic, Dejan B.; Esler, Amy; Haas-Givler, Barbara; Stackhouse, Tracy; Riley, Catharine; Peacock, Georgina; Sherman, Stephanie L.; Brown, W. Ted; Berry-Kravis, Elizabeth.

In: Pediatrics, Vol. 139, 01.06.2017, p. S194-S206.

Research output: Contribution to journalArticle

Kaufmann, WE, Kidd, SA, Andrews, HF, Budimirovic, DB, Esler, A, Haas-Givler, B, Stackhouse, T, Riley, C, Peacock, G, Sherman, SL, Brown, WT & Berry-Kravis, E 2017, 'Autism spectrum disorder in fragile X syndrome: Cooccurring conditions and current treatment' Pediatrics, vol 139, pp. S194-S206. DOI: 10.1542/peds.2016-1159F
Kaufmann WE, Kidd SA, Andrews HF, Budimirovic DB, Esler A, Haas-Givler B et al. Autism spectrum disorder in fragile X syndrome: Cooccurring conditions and current treatment. Pediatrics. 2017 Jun 1;139:S194-S206. Available from, DOI: 10.1542/peds.2016-1159F

Kaufmann, Walter E.; Kidd, Sharon A.; Andrews, Howard F.; Budimirovic, Dejan B.; Esler, Amy; Haas-Givler, Barbara; Stackhouse, Tracy; Riley, Catharine; Peacock, Georgina; Sherman, Stephanie L.; Brown, W. Ted; Berry-Kravis, Elizabeth / Autism spectrum disorder in fragile X syndrome : Cooccurring conditions and current treatment.

In: Pediatrics, Vol. 139, 01.06.2017, p. S194-S206.

Research output: Contribution to journalArticle

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abstract = "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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