UMN research works toward early diagnosis for rare developmental disorder

Researchers found that differences in brain development of Fragile X patients as early as age one.

Ella Johnson

When Minnesota resident Dayna Klein’s twins were about three years old, she knew something wasn’t quite right. 

The toddlers weren’t speaking, and some of their developmental skills lagged behind their peers’. Teachers and specialists suggested the twins had autism or an intellectual disability, or that nothing was amiss. Finally, a doctor diagnosed them with fragile X, a rare developmental disorder similar to autism. 

Fragile X is uncommon and difficult to diagnose, resulting in delayed diagnosis for many patients, like Klein’s twins. Research from the University of Minnesota published this month could help doctors identify the disorder based on neurological signs, allowing for earlier diagnosis and intervention. 

Fragile X is caused by a gene mutation that turns off a protein critical in regulation of brain development. The behavioral symptoms doctors use to diagnose the disorder include anxiety and aggression as well as social, intellectual and motor impairments.

While newborns can be diagnosed with fragile X, the average age of diagnosis is 3-4 years old. Many doctors aren’t aware of the rare disease, and when children present the symptoms, experts frequently test several other possibilities before considering fragile X.

The University study found that significant differences in brain development – specifically, white matter – are identifiable in children with fragile X as young as one year old. The study is the first to pinpoint differences at such an early age, said Dr. Jason Wolff, and provides evidence for the importance and potential efficacy of interventions with infants. 

While there are no drug treatments for fragile X, behavioral treatments have proven to be effective and could be adapted for infants, Wolff said. With earlier diagnosis, those behavioral interventions could begin sooner and enhance patients’ quality of life.

Wolff said that while implementing regular screening for infants could help children receive treatment sooner, raising awareness among doctors and the public could improve outcomes for kids with fragile X. 

Dayna said earlier diagnosis would benefit both children and families.

“Had I not met [the doctor who diagnosed the twins], it would [have] been so frustrating … An earlier diagnosis on parents and the child would be beneficial,” she said.

Going forward, Wolff and his team will continue to work with fragile X patients, as well as a group of patients with autism, to better understand the changes in brain development associated with the two disorders.