Psychiatric Symptoms More Common in PWS than in Other Genetic Diseases, Study Finds

Children and young adults with Prader-Willi syndrome (PWS) have a higher prevalence of psychiatric symptoms than their peers with other genetic disorders associated with intellectual disability (ID), a study shows.

The study, “Systematic Review and Meta-Analysis: Mental Health in Children With Neurogenetic Disorders Associated With Intellectual Disability,” was published in the Journal of the American Academy of Child & Adult Psychiatry.

Studies have shown that aggression and self-injury are more frequently observed in PWS, Cri-du-Chat, Smith-Magenis and Cornelia de Lange syndromes than in Down and Williams syndromes.

Attention deficit/hyperactivity disorder (ADHD) is common in patients with Williams and fragile X syndromes, while those with Down syndrome are at risk for depression.

Better understanding of the prevalence and nature of psychiatric disorders and of specific genetic diseases associated with ID can help healthcare providers plan treatments and guidance. That’s “an essential task, given these syndromes typically occur rarely and are associated with substantial and complex health needs,” the researchers said.

Researchers in Australia reviewed the prevalence of psychiatric disorders and their symptoms in children and young adults with neurogenetic disorders that involve ID.

They used two online databases to search for articles on patients between the ages of 4 and 21, looking for studies that used formal psychiatric assessments or a standardized evaluation of mental health symptoms.

Overall, 39 articles were included, which provided data on 4,039 children and adolescents. Five of these studies were on PWS.

Results indicated the presence of 10 different ID-associated syndromes across all subjects with psychiatric disorders and symptoms. The five most frequently observed were PWS, Down, fragile X, Williams, and 22q11.2 deletion syndromes.

The Child Behavior Checklist (CBCL) was the most frequently used tool to analyze mental health symptoms.

The prevalence of these symptoms was highest in PWS (74%).  In contrast, the prevalence of psychiatric problems was lowest in Down syndrome (32%).

The prevalence of internalizing symptoms — mood disturbance, anxiety, depression, and social withdrawal — was similar to the general population for Down syndrome patients but higher in the other syndromes, including PWS.

The prevalence of externalizing symptoms — such as aggressive behavior — relative to the general population was significantly higher (51%) in patients with PWS, but similar to the general population in the other syndromes.

The findings indicate a variable vulnerability to mental health disorders across these genetic disorders, the scientists said.

“[C]urrent findings indicate substantial psychiatric vulnerabilities, but more prevalence data are required to establish a platform to support evidence-based practice and thereafter reduce barriers to service access,” they wrote.