The Management of Evolving Neuropsychiatric Symptoms in a Female with Fragile X Syndrome: A Case Report.

Abstract

Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder characterized by cognitive impairment, behavioral dysregulation, and emotional lability. While it is primarily known as a leading cause of inherited intellectual disability, patients with FXS may also present with complex neuropsychiatric symptoms including attention-deficit/hyperactivity disorder (ADHD), anxiety, autistic features, irritability, and self-injurious behaviors as they progress through childhood and adolescence. As such, these patients require close monitoring and routine adjustment of behavioral and pharmacologic treatment. Although pharmacologic sensitivity and fluctuating clinical needs are well-documented in FXS, longitudinal management remains a clinical challenge and further complicated by variable treatment responses and frequent comorbidities such as autism spectrum disorder (ASD) and ADHD. We present longitudinal management of a genetically confirmed female with FXS who was followed from childhood into young adulthood. Her course was characterized by early emerging ASD features, severe ADHD, anxiety, episodic irritability, skin-picking, and comorbid epilepsy. Over time, stimulant medication, adjunctive clonidine, intermittent low-dose antipsychotic use, selective serotonin reuptake inhibitors, and antiseizure medications formed the core of treatment. Behavioral therapy, school-based supports, and caregiver training were consistently emphasized. Medication choices and dosing shifted in response to developmental stage, psychiatric symptom emergence, metabolic side-effects, neurologic comorbidity, and family preference. This case illustrates the need for continuous reassessment, metabolic and neurologic monitoring, and flexible, interdisciplinary management in patients with FXS and evolving psychiatric symptoms.