ABSTRACT
Using a dataset involving 415 individuals with irritability, aggression, agitation and self-injury (IAAS) behaviors from the fragile X syndrome (FXS) FORWARD database, we describe the psychopharmacologic management of IAAS and features of the population of persons with FXS treated with drug therapy for IAAS. Among those with FXS exhibiting IAAS, individuals with FXS receiving drug treatment of IAAS were older, more predominantly male, have more significant intellectual disability, more like to have comorbid autism, hyperarousal, and social impairments. The most commonly utilized medications for IAAS in FXS are antipsychotic medications, specifically aripiprazole and risperidone (37% and 27%, respectively). The majority of subjects (63%) experienced no side effects noted from the use of their psychopharmacologic medications.
Subject(s)
Aggression/drug effects , Antipsychotic Agents/therapeutic use , Fragile X Syndrome/drug therapy , Irritable Mood/drug effects , Psychomotor Agitation/drug therapy , Self-Injurious Behavior/drug therapy , Adolescent , Adult , Aggression/physiology , Aggression/psychology , Antidepressive Agents/pharmacology , Antidepressive Agents/therapeutic use , Antipsychotic Agents/pharmacology , Child , Comorbidity , Cross-Sectional Studies , Female , Fragile X Syndrome/epidemiology , Fragile X Syndrome/psychology , Humans , Irritable Mood/physiology , Male , Middle Aged , Psychomotor Agitation/epidemiology , Psychomotor Agitation/psychology , Risperidone/pharmacology , Risperidone/therapeutic use , Self-Injurious Behavior/epidemiology , Self-Injurious Behavior/psychology , Young AdultABSTRACT
BACKGROUND: Fragile X syndrome (FXS) is the leading inherited cause of autism spectrum disorder, but there remains debate regarding the clinical presentation of social deficits in FXS. The aim of this study was to compare individuals with FXS to typically developing controls (TDC) and individuals with idiopathic autism spectrum disorder (ASD) across two social eye tracking paradigms. METHODS: Individuals with FXS and age- and gender-matched TDC and individuals with idiopathic ASD completed emotional face and social preference eye tracking tasks to evaluate gaze aversion and social interest, respectively. Participants completed a battery of cognitive testing and caregiver-reported measures for neurobehavioral characterization. RESULTS: Individuals with FXS exhibited reduced eye and increased mouth gaze to emotional faces compared to TDC. Gaze aversive findings were found to correlate with measures of anxiety, social communication deficits, and behavioral problems. In the social interest task, while individuals with idiopathic ASD showed significantly less social preference, individuals with FXS displayed social preference similar to TDC. CONCLUSIONS: These findings suggest fragile X syndrome social deficits center on social anxiety without the prominent reduction in social interest associated with autism spectrum disorder. Specifically designed eye tracking techniques clarify the nature of social deficits in fragile X syndrome and may have applications to improve phenotyping and evaluate interventions targeting social functioning impairments.
