Medication Utilization for Targeted Symptoms in Children and Adults With Fragile X Syndrome: US Survey Donald B. Bailey Jr, PhD,* Melissa Raspa, PhD,* Ellen Bishop, MA,* Murrey Olmsted, PhD,* Usha G. Mallya, PhD,† Elizabeth Berry-Kravis, MD, PhD‡ ABSTRACT: Objective: To identify the most common neurological and behavioral symptoms treated by med- ications in individuals with fragile X syndrome (FXS), factors associated with treatment variability, and difficulty in swallowing a pill. Method: A total of 1019 caregivers provided information about 1064 sons and 299 daughters with FXS in a US national survey. Caregivers reported (a) current use of medications for attention, anxiety, hyperactivity, mood swings, anger, depression, seizures, self-injury, or sleep; (b) perceived efficacy; and (c) difficulty in swallowing a pill. Results: Sixty-one percent of males and 38% of females were currently taking medication for at least 1 symptom. The most common symptoms were anxiety, attention, and hyperactivity. Treatments for attention and hyperactivity were common in childhood but declined substan- tially after the age of 18 years; anxiety treatment remained high in adults. Children perceived to be more impaired and children diagnosed or treated for autism were more likely to be taking medications. Caregivers considered most medications somewhat effective, but less than one-third rated current medication as “a lot” effective. Many children had difficulty swallowing a pill, but only 11% of adult males and 2% of adult females had a lot of difficulty. Conclusion: Symptom-based medication use is common in FXS, although response is incomplete and there is clearly an unmet need for medications with improved efficacy. The persistent use of medications to treat anxiety, mood, and behavior problems throughout adolescence and into the adult years suggests important outcomes when evaluating the efficacy of new medications. (J Dev Behav Pediatr 33:62–69, 2012) Index terms: Fragile X Syndrome, medication treatments, pill-swallowing. Fragile X syndrome (FXS) is the most common known inherited cause of intellectual disability. Males with FXS typically have moderate intellectual disability, although impairment can range from mild to severe; females typ- ically have mild intellectual disability, ranging from nor- mal cognitive function to moderate impairment. 1,2 FXS is also highly associated with a range of co-occurring con- ditions that can compromise functioning and adaptive behavior in both males and females. The most common of these conditions include attention problems and anx- iety, typically occurring in more than two-thirds of males and more than 40% of females. 3 Other common prob- lems include hyperactivity, autism, self-injury, aggressive behavior, and sleep difficulties. Seizures and depression occur in a small but significant subset. 4 A recent national survey found that the typical male with FXS experienced 4 or more co-occurring conditions, whereas females typ- ically experienced 2 or more. 3 As with almost all neurodevelopmental disorders, psy- chopharmacological treatments for FXS to date have focused on presenting symptoms. Typically, stimulants are the most frequently used medications, targeting symptoms such as attention problems, hyperactivity, and impulsive behavior, although alpha-agonists are used for hyperactivity, especially in young children and when stimulants have side effects. Antidepressants are fre- quently prescribed for anxiety and obsessive-compulsive behavior or to regulate mood swings; antipsychotics are used to treat more severe irritable, aggressive, and op- positional behaviors and in some cases anxiety; these latter 2 medication classes are the most frequently used psychopharmacological medications in adults with FXS. 5,6 In addition, anticonvulsants are used for seizures and sometimes as mood stabilizers. 6,7 Only a single study has examined the efficacy of a common psychopharma- cological intervention (stimulant treatment) through a placebo-controlled trial in a small sample of individuals with FXS. 8 Although several open-label trials 9,10 and sur- vey- or clinic-based descriptive analyses suggest efficacy of 1 or multiple agents or classes of agents, 6,11,12 evi- dence for the efficacy of symptom-based psychopharma- cological treatments in FXS is sparse. 13 From the *RTI International, Research Triangle Park, NC; †Novartis Pharmaceu- tical Corporation; ‡Departments of Pediatrics, Neurological Sciences, Biochem- istry, Rush University Medical Center, Chicago, IL. Received April 2011; accepted September 2011. This study was supported in part by the Centers for Disease Control and Prevention (CDC) and the Association for Prevention Teaching and Research (APTR) Cooperative Agreement No. U50/CCU300860 (Project TS-1380) and in part by Novartis Pharmaceutical Corporation. Disclosure: The authors declare no conflict of interest. Address for reprints: Don Bailey, PhD, RTI International, 3040 Cornwallis Road, Research Triangle Park, NC 27709; e-mail: dbailey@rti.org. Copyright © 2012 Lippincott Williams & Wilkins Original Article 62 | www.jdbp.org Journal of Developmental & Behavioral Pediatrics