Mental health concerns found prevalent in PWS across age groups
Anxiety tops list of conditions, though children often go undiagnosed
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Mental health conditions are common in PWS, affecting nearly half of children younger than 12, a study found. (Photo by iStock)
Nearly three-quarters of people with Prader-Willi syndrome (PWS) had a diagnosed or parent-reported mental health condition, with anxiety being the most common concern, a small study from Australia showed.
Mental health concerns were also reported in nearly half of children younger than 12. Many lacked a formal diagnosis, highlighting the importance of early screening and specialized mental health support.
“The complex interplay between cognitive, emotional and behavioral factors in PWS … emphasizes the critical need for mental health surveillance, proactive monitoring and increased specialized mental health support for individuals with PWS and their families,” the researchers wrote. “Further research is essential to disentangle the overlap between the PWS behavioral [profile], mental illness, and [simultaneous] conditions.”
The study, “Mental health outcomes in Prader-Willi Syndrome: An Australian cohort study,” was published in the Journal of Psychiatric Research.
PWS is caused by genetic mutations affecting a specific region of the paternal copy of chromosome 15. The most common is a chromosomal deletion, where that section of DNA is entirely missing.
Overlapping features
PWS symptoms include intellectual disability, delayed development, insatiable hunger, and mood and behavioral problems. People with PWS are also at higher risk of developing mental health issues such as anxiety and neurodevelopmental conditions such as autism.
“Given the overlapping nature of these co-occurring conditions and the many shared features between them it is difficult to distinguish whether behaviors stem from differences between molecular classes of PWS (i.e. deletion vs non-deletion) and/or co-occurring conditions such as cognitive impairments or independently occurring mental health conditions,” the researchers wrote.
This may contribute to delays in recognizing and diagnosing mental health problems, and in the subsequent access to appropriate treatment, in people with PWS.
The team explored the relationship between mental health conditions and behavioral profiles in 30 people with PWS, ages 3 to 45. Women and girls made up 56.7% of the participants.
In 14 participants, PWS was caused by a deletion, while 16 had non-deletion, genetic causes. Those in the deletion group were significantly older than those in the non-deletion group (26.52 vs. 11.14).
Parents or caregivers completed questionnaires about mental health conditions, indicating whether a condition had been formally diagnosed or was suspected, and behaviors commonly associated with PWS. Patients underwent assessments of intellectual functioning and autistic traits, including social communication skills and repetitive/restrictive behaviors.
Overall, 73.3% of participants with PWS were had a mental health condition, confirmed or parent-reported, most commonly anxiety (65.5%). This was true regardless of the underlying genetic cause.
Anxiety was also the most frequently diagnosed mental health issue. However, 42% of participants with reported anxiety symptoms lacked a formal diagnosis.
Among children younger than 12, six (46%) had parent-reported mental health concerns, including depression, anxiety, and/or obsessive-compulsive disorder, a condition involving recurring, unwanted thoughts and repetitive behaviors. However, only three of them had a confirmed diagnosis. The youngest patient with confirmed diagnosis of a mental health condition — anxiety — was 6.
“Given the high prevalence of mental health conditions across subtypes, early surveillance and routine mental health screening should be part of the general management of all individuals with PWS,” the researchers wrote.
Participants with confirmed or parent-reported mental health conditions had significantly lower verbal IQ scores — indicating poorer language-based reasoning, vocabulary, and verbal comprehension — and significantly more pronounced autistic traits than those without such conditions.
They also showed significantly higher levels of other behavioral problems, including irritability and food-seeking behaviors, and scored significantly higher on measures of behavioral difficulties.
However, when the researchers considered only individuals with a confirmed diagnosis of a mental health condition, increased autistic traits were the only findings that remained significantly different between the groups.
Comparisons between genetic subgroups suggested that individuals with a deletion were significantly more likely to have a mental health condition and to experience depression than those in the non-deletion group. However, these links did not remain statistically significant after the team applied stricter statistical analyses, meaning they could be due to chance.
“This study highlighted elevated rates of mental health conditions and additional cognitive and behavioral challenges among individuals with PWS, including in young children with PWS,” the researchers wrote.
Among the study’s limitations, the team noted its small sample size, differences in participants’ ages, and reliance on caregiver reports rather than independent clinical confirmation of mental health conditions.
The researchers emphasized the need for further studies to better distinguish mental health conditions from behavioral features of PWS and coexisting conditions. A better understanding of these differences and how they relate to the underlying genetic cause may “enhance early detection and inform the development of more effective interventions,” they concluded.
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