Access to Care Limitations: When Distance and Lack of Evidence Meet

Area of Science:

• Developmental Pediatrics
• Behavioral Psychology
• Genetics

Background:

• A 13-year-old male with prenatally diagnosed Down syndrome (trisomy 21) presented with co-occurring autism spectrum disorder (ASD).
• The patient exhibited developmental delays, limited language, social withdrawal, and sensory sensitivities since early childhood.
• He experienced escalating repetitive and aggressive behaviors, including self-injury and aggression towards others, particularly in response to demands.

Observation:

• The patient displayed marked startle responses and engaged in stereotyped behaviors like dangling objects and rocking.
• Aggressive behaviors, self-injury, and school refusal intensified, with aggression ceasing when educational demands were removed.
• Multidisciplinary evaluation at a specialty center led to the ASD diagnosis and initiation of behavioral parent training via telehealth.

Findings:

• Behavioral parent training incorporating prevention, reinforcement, and functional communication training reduced elopement and aggression.
• Despite some improvement, self-injurious behaviors and school refusal persisted.
• Limited local resources and a lack of evidence-based guidelines for co-occurring Down syndrome and ASD hindered comprehensive care.

Implications:

• There is a critical need for accessible, evidence-based guidelines and community resources for individuals with both Down syndrome and ASD.
• Enhanced multidisciplinary support and tailored interventions are essential to address complex behavioral challenges in this population.
• Supporting families with integrated care models can mitigate isolation and improve outcomes for children with co-occurring conditions.