Behavioral phenotype in adults with Prader-Willi syndrome.
Behavioral issues in Prader-Willi syndrome intensify with age, so adult services need ongoing assessment, not graduation.
01Research in Context
What this study did
Sinnema et al. (2011) asked caregivers of 98 adults with genetically confirmed Prader-Willi syndrome to fill out behavior checklists.
The team wanted to see if behavior problems change as adults with PWS get older and whether the genetic subtype matters.
No one was given an intervention; this was a one-time survey, not an experiment.
What they found
Behavioral problems did not fade with age; they got stronger.
The survey also showed that adults with the deletion subtype acted differently from those with uniparental disomy, so genes shape behavior even in later life.
How this fits with other research
Smith et al. (1997) used the same survey style with 176 Italian adults who had intellectual disability. Both studies prove that large adult samples can map behavior profiles, giving you reference points for your own assessments.
Ballester et al. (2019) and Ring et al. (2020) looked at sleep and memory in adults with autism, not PWS. Together they build a bigger picture: once rare diseases reach adulthood, new issues keep appearing, so assessment must stay lifelong.
Kemner et al. (2008) found a strength—faster visual search—in adults with PDD. Margje shows the flip side: more behavior problems. Both papers remind us that adult phenotypes mix gifts and challenges, not just child data carried forward.
Why it matters
If you serve adults with PWS, expect behavior challenges to grow, not shrink. Schedule regular caregiver interviews and use genetic subtype to guide support plans. The same survey tools these researchers used can fit into your annual review packet, giving you hard numbers for treatment-team meetings and insurance justifications.
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02At a glance
03Original abstract
Prader-Willi syndrome (PWS) is characterized by temper tantrums, impulsivity, mood fluctuations, difficulty with change in routine, skinpicking, stubbornness and aggression. Many studies on behavior in PWS are limited by sample size, age range, a lack of genetically confirmed diagnosis of PWS and inconsistent assessment of behavior. The aim of this study was to explore systematically the relation between behavioral problems and age groups, genetic subtypes and BMI categories in an adult PWS population. Participants were contacted via the Dutch Prader-Willi Parent Association and through physicians specialized in persons with ID. Behaviors were studied using the Developmental Behavior Checklist for Adults (DBC-A). The forms were completed by the main caregivers of 98 adults with a genetically confirmed diagnosis of PWS. Differences between age groups were statistically significant (ANOVA, p=0.03). DBC-A total scores were higher in the consecutive age groups, with the most behavioral problems in the oldest age groups. Differences between genetic subtypes were also statistically significant (ANOVA, p<0.01). Persons with mUPD had higher total scores on the DBC-A than persons with a deletion. Those with a Type I deletion showed higher total DBC-A scores than persons with a Type II deletion. There were no statistically significant differences in DBC-A total scores between the different BMI categories. Individuals with a BMI<25 had higher scores on the self-absorbed subscale compared to persons with a BMI between 25 and 30. Unlike previous descriptions of the behavioral phenotype in adults with PWS, we did not find a reduction in behavioral problems in older adults. Therefore, special attention should be paid to behavioral problems as part of general management of adults with PWS. Longitudinal studies are warranted to gain more insight into the natural history and course of behavioral problems in adults and older people with PWS over the long term and possible risk and preventive factors.
Research in developmental disabilities, 2011 · doi:10.1016/j.ridd.2010.12.014