SUMMARY

This case study focuses on the psychiatric management of a 20-year-old male patient with moderate Intellectual Disability (ID) due to Fragile X Syndrome (FXS). The patient’s comprehensive management approach included regular psychiatric assessments, psychoeducation, counseling, pharmacotherapy with SSRIs and aripiprazole, behavioral interventions like ABA and CBT, social skills training, and a multidisciplinary collaborative care model.
Additional support services, such as speech and language therapy, occupational therapy, genetic counseling, and parent training programs, were also integrated to address his unique needs and improve his overall well-being and adaptive functioning.

INTRODUCTION

ID is characterized by intellectual functioning and adaptive skills limitations, affecting approximately 1-3% of the global population (WHO). This case study delves into the management of psychiatric symptoms in a patient with ID due to Fragile X Syndrome, highlighting the importance of a comprehensive approach to improve overall well-being.

PATIENT PROFILE

Name: Mr. R
Age: 20 years
Diagnosis: Moderate Intellectual Disability secondary to Fragile X Syndrome (FXS)
Clinical Background: Mr. R presented with recurrent signs of ID, including anxiety, social difficulties, and behavioral dysregulation. His cognitive and adaptive functioning deficits significantly impaired his ability to meet educational goals, causing complete dependence on family resources and straining interpersonal relationships.

INITIAL ASSESSMENT

A comprehensive psychiatric assessment was conducted to understand Mr. R’s unique needs. This included:
Clinical interviews with Mr. R and his family
Behavioral observations across various settings
Standardized assessment tools measuring intellectual functioning, adaptive skills, and psychiatric symptomatology

ETIOLOGY

Fragile X Syndrome (FXS):
FXS is caused by a mutation in the FMR1 gene, leading to a deficiency of the fragile X mental retardation protein (FMRP). This protein is crucial for brain development and functioning, and its absence or reduced levels result in various physical, developmental, and neurobehavioral challenges. FXS affects males more severely than females, with a prevalence of approximately 1 in 4,000 to 1 in 5,000 males and 1 in 8,000 to 1 in 10,000 females.

SIGNS & SYMPTOMS

Individuals with FXS typically display:
Intellectual disability
Delayed speech and language development
Hyperactivity and anxiety
Social difficulties and autistic-like behaviors
Physical features such as a long and narrow face, prominent ears, and large testes in males
Sensory integration issues, sleep disturbances, ADHD, and mood disorders

TREATMENT MODALITIES
  • Psychiatric Assessment
    Regular, thorough evaluations are essential to develop individualized management plans. These assessments help understand cognitive, adaptive, and psychiatric symptoms and guide treatment adjustments.
  • Psychoeducation and Counseling
    Educating Mr. R and his family about FXS and ID helps enhance understanding, coping strategies, and communication skills. Counseling supports emotional well-being, addresses adjustment difficulties, and promotes self-advocacy.
  • Pharmacotherapy
    Medications are considered for comorbid psychiatric conditions. For Mr. R, the following pharmacotherapy approach was used:
    Selective Serotonin Reuptake Inhibitors (SSRIs): Escitalopram titrated to 20 mg daily, later switched to fluoxetine (~40 mg daily) for better compliance and reduced side effects.
    Rescue Doses of Aripiprazole: 5-10 mg twice daily as needed for agitation, used when behavioral modification was insufficient.
  • Behavioral Interventions
    Behavior management techniques such as Applied Behavior Analysis (ABA), Positive Behavior Support (PBS), and Cognitive-Behavioral Therapy (CBT) were utilized to address maladaptive behaviors, improve social skills, and promote adaptive functioning.
  • Social Skills Training
    Programs were implemented to enhance Mr. R’s interpersonal interactions and functioning, focusing on communication skills, appropriate social behavior, and problem-solving abilities.
  • Collaborative Care
    A multidisciplinary team involving psychiatrists, psychologists, social workers, educators, and supportive service providers worked together to provide comprehensive care. Regular communication and coordination among team members were essential.
  • Additional Support Services
    Speech and Language Therapy: To improve communication skills
    Occupational Therapy: To address motor and sensory difficulties
    Genetic Counseling: To provide information to Mr. R’s family about FXS inheritance patterns
    Parent Training Programs and Support Groups: To help caregivers manage challenging behaviors and offer emotional support
PROGNOSIS AND FUTURE DIRECTIONS

ID, mainly when secondary to conditions like Fragile X Syndrome, requires a multifaceted and individualized management approach. By incorporating thorough assessments, psychoeducation, counseling, pharmacotherapy, behavioral interventions, social skills training, and collaborative care, individuals with ID can receive the support needed to enhance their overall well-being and optimize functioning.

This case study of Mr. R illustrates the effectiveness of a comprehensive psychiatric management strategy in addressing the complex needs of patients with ID and psychiatric comorbidities.

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