Abstract
Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder associated with behavioral and physical challenges that can prevent individuals from developing essential independent daily living skills, such as toileting. Limited research exists on toileting skills in the PWS population, which can impede the development of effective and targeted intervention. This survey study aimed to address this gap by gathering information about current toileting behaviors, training histories, and barriers to training, as reported by caregivers of children with PWS. Forty-one caregivers responded to the survey. Results indicate that while many challenges experienced by children with PWS may be similar to those experienced by other populations with developmental disabilities, several unique features of PWS further complicate the toileting process. These preliminary findings highlight the need for future research to inform interventions tailored to the specific needs of individuals with PWS.
Keywords
Toileting is a socially significant developmental milestone typically acquired in early childhood (Schum et al., 2002). For individuals with developmental disabilities, acquiring toileting skills can be significantly delayed or remain inconsistent, leading to challenges such as incontinence and dependence on caregivers (Equit et al., 2013; Matson et al., 2011). These issues can negatively impact health, self-esteem, and social inclusion (Kroeger & Sorensen, 2010). Research has indicated that more than half of adults with developmental disabilities have daily toileting accidents, with nearly as many unable to engage in necessary toileting-related behaviors (Matson et al., 2011).
In addition to the health-related concerns associated with both urinary and fecal incontinence (e.g., skin irritation, risks for urinary tract infections), a lack of independent toileting skills can have a significant, detrimental effect on an individual’s quality of life (Kroeger & Sorensen, 2010). Physical discomfort, the impact on self-esteem, and the social stigma associated with toileting accidents and/or diaper use can impede an individual’s ability to actively engage with their community and to develop meaningful social connections (Kroeger & Sorensen-Burnworth, 2009; Leader et al., 2018). As a result, effective interventions are needed that can help individuals with developmental disabilities to be successful and independent in this important area.
Behavior-analytic interventions have demonstrated effectiveness in teaching toileting skills to individuals with autism spectrum disorder (ASD) and other developmental disabilities (Azrin & Foxx, 1971; Cicero & Pfadt, 2002; Dabney et al., 2023; Greer et al., 2016; Lapin, 2020; Leblanc et al., 2005; Paquet Croteau et al., 2023; Perez et al., 2020). Such interventions often involve breaking down tasks, creating structured routines, and systematically reinforcing desired behaviors. Historically, these interventions have incorporated punishment procedures such as overcorrection or time-out (Azrin & Foxx, 1971); however, in recent years, training programs have evolved to focus on procedures that are more child-centered, incorporating positive reinforcement and graduated guidance in lieu of restrictive or intrusive practices (e.g., Cocchiola et al., 2012; Paquet Croteau et al., 2023). Several studies have shown that, not only can child-centered, behavior analytic interventions be effective for training children with ASD and developmental disabilities, but caregivers can also be trained to implement these interventions in their home settings (Paquet Croteau et al., 2023). Despite the success of behavior analytic intervention for toilet training, virtually all of this research has focused on individuals with ASD or related developmental delays. However, key to the development of effective interventions, has been the understanding of the needs of the individuals for whom the interventions were developed. Although several research studies have been conducted to examine the specific toilet training needs of individuals with developmental disabilities, along with the best ways to approach training for this population (e.g., Azrin & Foxx, 1971; Cocchiola et al., 2012; Kroeger & Sorensen, 2010; Matson et al., 2011; Meadan, & Daczewitz, 2015; Rinald & Mirenda, 2012), individuals with rare disorders, such as those with Prader-Willi syndrome (PWS), have often been excluded (von Gontard et al., 2010).
Prader-Willi Syndrome
PWS is a rare neurodevelopmental disorder that is caused by genetic mutation. PWS is estimated to impact between 1 in 10,000 to 30,000 live births (Schwartz et al., 2021) and is associated with a variety of physical, neurological, and behavioral symptoms that can impact development and prevent children with PWS from reaching milestones as typically expected (Cassidy & Driscoll, 2009; Cassidy et al., 2012; Driscoll et al., 2017; Schwartz et al., 2021; Yamada et al., 2022). While the most well-known symptom of PWS is likely hyperphagia, or an uncontrollable starving sensation, other physical symptoms of PWS can also have significant impacts on independence and quality of life (Driscoll et al., 2017).
Low muscle tone and deficits in motor planning skills associated with PWS often result in fine and gross motor delays (Driscoll et al., 2017), meaning that children with PWS often have a hard time balancing, grasping, pushing, and pulling, among other skills, which often impacts their level of independence with daily living skills such as toileting (Reus et al., 2011). Additionally, low muscle tone often results in a reduced ability to detect the need to void (Miller et al., 2011; von Gontard et al., 2010). The combination of these two factors means that children with PWS struggle not only to identify the sensations needed to effectively alert them to their need to use the toilet, but, in addition, they often struggle with the ability to physically begin and complete toileting related behaviors such as dressing and undressing, flushing, washing hands, wiping, and even sitting upright on the toilet (Miller et al., 2011; Reus et al., 2011; von Gontard et al., 2010).
As a result, toilet training and independence in toileting related behaviors can be significantly delayed in children with PWS (Equit et al., 2013). These delays, and the attention and physical assistance needed to address them, add to caregiver burden and stress, and can prevent children with PWS from full inclusion in general education settings and meaningful social activities where greater independence in toileting is required. Despite these clear concerns, there is virtually no existing research that has examined toileting behavior and skills for individuals with PWS, or which has evaluated the existing challenges experienced by caregivers when attempting to toilet train their child with PWS.
The lack of research focused on toileting behavior of individuals with PWS or on their histories related to toilet training has resulted in little being known about the scope of their challenges with toileting, or the specific physical and behavioral barriers that may impact attempts to toilet train. As many complicating physiological and medical factors exist for individuals with PWS, having a clear understanding of their level of need and their challenges and barriers with toilet training is a critical first step to developing potential interventions. The purpose of this study was to gather information about current toileting behaviors, training histories, and barriers to training, as reported by caregivers of children with PWS, and to provide recommendations and considerations for future toileting programs to better tailor interventions to the specific needs of individuals with PWS.
Methods
Survey
The Caregiver Questionnaire: PWS Toileting Skills (CQ-PTS) is a brief survey aimed at gaining an understanding of the experiences caregivers of children with PWS have toilet training their child, their perceptions of barriers (physical and behavioral) to effective training, and the current status of their children’s toileting behavior. The survey was developed by the second author based on well-established toileting surveys, including the PQ-EnU (Niemczyk et al., 2018) and POTI (Matson et al., 2011), with questions adapted to evaluate physical and behavioral symptoms of PWS known to complicate toileting (e.g., those described in Miller et al., 2011, von Gontard et al., 2010, and evaluated in the PWS Symptom Acuity Scale, Pittsburgh Partnership, 2018). While established surveys are typically preferred, researchers within rare disease populations often find that existing measures do not appropriately capture the challenges of the population they support and are therefore tasked with creating disease-specific measures (e.g., PADQ, Cotter et al., 2023; PWS Symptom Acuity Scale, Pittsburgh Partnership, 2018). To counter the limitation of using a newly developed measure, the CQ-PTS has been included in Appendix A to allow readers to independently evaluate its content and merits.
The CQ-PTS is comprised of 31 questions that require forced-choice, multi-select, and open-ended responding. The questions sought to gain information across the areas of: (a) caregiver and child demographics, (b) details on their toilet training experience, (c) the physical, behavioral, and communication barriers perceived to impact independence in toileting, and (d) the current toileting behaviors of their children with PWS, including frequency of urinary and bowel accidents. Following the development of the survey by the authors, the survey was sent to professionals with extensive experience toileting children with disabilities for their review. Feedback was requested to ensure that questions covered important behaviors and skills relevant for toilet training and the physical and behavioral characteristics of individuals with PWS, allowing for a final draft that incorporated topics relevant for toilet training this specific population.
The survey was hosted on Questions Pro, an online survey software and distributed via email to PWS parent groups and by PWS specific non-profit organizations. Following the initial distribution by PWS groups and non-profits via email mailing lists and newsletters, recruitment was further facilitated using a snowball method, that allowed recipients of the survey to share the details of the study and the recruitment process with any other individuals or groups that they thought may be interested in participating (Biernacki & Waldorf, 1981). Forty-one participants completed the survey. Although these participants make up only a small number of the caregivers who support individuals with PWS, this number is not inconsistent with other survey research conducted with individuals experiencing rare syndromes such as PWS (e.g., Bedard, Griffith, & Strittman et al., 2023; Nordstrom et al., 2015; Young et al., 2006) and is sufficient for initial exploratory investigations.
Results
Demographic Information
The demographic questions aimed to gather basic information about the survey respondents and their children with PWS. Demographic information is presented in Table 1. Almost all participants indicated that they were mothers (n = 39, 95.1%), and biological caregivers of the children with PWS for whom they referred for the completion of the survey (n = 39, 95.1%). The caregivers were, on average, 41.4 years old (SD = 6.2), with a range from 29 to 62 years of age. Over three-quarters indicated that they were White (n = 32, 78.0%), with the remaining caregivers indicating they were Asian (n = 2, 4.9%), Hispanic (n = 1, 2.4%), Hawaiian/Pacific Islander (n = 1, 2.4%), or Multi-Ethnic (n = 3, 7.3%). Two caregivers preferred not to answer this question (4.9%). The majority reported that they lived in the United States (n = 32, 78.0%), while others lived in Australia (n = 5, 12.2%), Canada (n = 2, 4.9%), South Africa (n = 1, 2.4%), and Costa Rica (n = 1, 2.4%).
Demographics for Participants in Study on Toilet Training and Prader-Willi Syndrome (PWS).
Regarding their children with PWS, caregivers reported that just over half were female (n = 21, 51.2%). They reported that their children were, on average, 6.7 years old (SD = 3.4), ranging from 3 to 15 years of age. Similar to the caregivers, it was reported that the majority of the children were White (n = 30, 73.2%), with the remaining children reported to be Asian (n = 2, 4.9%), Hispanic (n = 1, 2.4%), or Multi-Ethnic (n = 6, 14.6%). There were two caregivers (4.9%) who preferred not to answer this question about their children. Caregivers reported that over one-third of their children communicated vocally with age-appropriate language and syntax (n = 14, 34.1%), however, a large number reported that while their children communicated vocally, they had below age-appropriate language and syntax (n = 20, 48.8%). A smaller number reported that their children use non-vocal modes of communication (n = 7, 17.1%).
History of Toilet Training
Caregivers were asked to report on their individual histories attempting to toilet train their children with PWS. Although the majority of parents reported that they initiated toilet training when their children were between the ages of 2 to 3 (n = 18, 43.9%) or 3 to 4 (n = 16, 39.0%), some indicated that they had started earlier (i.e., before the age of 2; n = 3, 7.3%) or later (i.e., after age 4; n = 3, 7.3%). One caregiver (2.4%) indicated that they had not yet started toilet training. Of the caregivers who had started to train their children, more than half indicated that they had worked on training for over 4 months (n = 23, 57.5%), with over one third indicating that they had worked on toilet training for more than 1 year (n = 14, 35.0%).
At the time of the survey, almost half of the caregivers reported that their child had become fully trained (n = 17, 42.5%). Other parents reported that their child had become partially trained but had stopped making progress; some of these parents reported that despite the lack of progress, they were continuing with training (n = 14, 35.0%), while others indicated that they had stopped training at that time (n = 4, 10.0%). Two caregivers reported that their child had not made any progress, but that they were continuing with training (n = 2, 5.0%), while three caregivers reported that their child did not make progress, so they had stopped training (n = 3, 7.5%).
Caregivers who had started toilet training their children reported using a variety of methods. In order to prompt successful voids, caregivers reported that they would have their child use the toilet at fixed intervals (n = 37, 92.5%), they reduced the use of protection to help children to be more aware of any accidents (n = 25, 62.5%), they would use rewards in an attempt to reinforce success (n = 30, 75.0%), they would wait for their child to ask to use the toilet (n = 15, 37.5%), they would model either themselves or using stuffed toys to prompt imitation (n = 12, 30.0%), and they would increase water consumption to increase opportunities for success (n = 6, 15.0%). A group of parents also reported that they would wake their child in the night to try to avoid bedwetting (n = 9, 22.5%). If children were not successful in voiding in the toilet, caregivers reported that they would take a break and bring their child back to the toilet again later (n = 35, 87.5%), while others reported they would keep their child on the toilet until they voided (n = 1, 2.5%) or that they would put on a diaper or other protection (n = 5, 12.5%). A small number of caregivers indicated that they incorporated punishment for accidents (n = 2, 5.0%).
Barriers to Toilet Training
The third set of questions sought to understand the most common barriers that caregivers face when attempting to toilet train their children with PWS, including skill regression, physical difficulties, and behavioral difficulties. While the majority of caregivers reported that once their children gained toileting skills that they did not show any signs of regression (n = 29, 72.5%), just over one quarter reported that their children had experienced regression in toileting skills at some point in time (n = 11, 27.5%). In addition, several parents reported physical problems that may impact successful toilet training (see Figure 1). These included health challenges, such as constipation (n = 14, 34.1%), urinary tract infections (n = 2, 4.9%), frequent stomach pain (n = 1, 2.4%), and physical difficulties that may be more specific to PWS, such as low muscle tone (n = 37, 90.2%), poor balance (n = 31, 75.6%), difficulty grasping or pulling clothing to remove it as needed (n = 20, 48.8%), difficulty communicating the need to use the toilet (n = 11, 26.8%), difficulties with feeling the physical sensations associated with the need to use the toilet (n = 11, 26.8%), difficulty starting to urinate (n = 2, 4.9%), and difficulty starting to defecate (n = 2, 4.9%).
The percentage of child participants who experience physical barriers to toileting.
While many caregivers reported that behavioral challenges did not impede toilet training for their children, several caregivers identified specific problem behaviors that did interfere (see Figure 2). These parents indicated that their children would refuse to use the toilet (n = 10, 23.8%), and that they would engage in tantrum behavior (n = 7, 16.7%) or aggression (n = 2, 4.8%). Additionally, caregivers provided some anecdotal comments emphasizing the challenges that they had experienced, including their child holding urine when not in diapers, wetting themself on purpose during tantrum behavior, and being unbothered by wet diapers or clothing.
The percentage of child participants who experience behavioral barriers to toileting.
Current Toileting Behavior
The final set of questions sought to gain a snapshot of current toileting behavior for children with PWS, and the current status of their toilet training efforts (see Figure 3). Over half of the children (n = 22, 53.7%) were fully toilet trained during the day, though despite their daytime success several continue to have difficulties with bedwetting (n = 8, 36.4%). The remaining caregivers reported that their children can independently make their toileting needs known but require some assistance to use the restroom (n = 7, 16.7%), or that they are partially trained to stay clean and dry, using the toilet on scheduled intervals (n = 7, 16.7%). A number also indicated that their children are not trained at all (n = 5, 11.9%).
The percentage of child participants across outcomes for toilet training.
While almost one third of caregivers reported that their children do not have any accidents or difficulties with toileting (n = 13, 31%), others reported concerns. Several caregivers reported that their child would not urinate in the toilet at all (n = 7, 16.7%) or would not defecate in the toilet at all (n = 8, 19%). Over half of caregivers reported that their children would experience urine accidents while awake (n = 24, 58.5%; see Figure 4). While these accidents occurred less than once per week for almost one quarter of the children (n = 10, 24.4%), for several they occurred multiple times per week (n = 3, 7.3%) or at least once per day (n = 9, 22.0%). In addition, caregivers reported that bedwetting occurred for more than half of the participants (n = 27, 65.9%; see Figure 4), with over one quarter having at least one nighttime accident per night (n = 12, 29.2%).
The percentage of child participants who experience daytime and nighttime accidents.
Caregivers reported that they dealt with accidents (both daytime and nighttime) using a diaper (n = 9, 22%), a training diaper/pull-up (n = 13, 31.7%), plastic pants (n = 1, 2.4%), or training underwear (n = 4, 9.8%). In addition to difficulties with voiding itself, caregivers reported that full toileting independence was hindered for their children, as they had difficulties wiping correctly and sufficiently (n = 35, 85.4%), pulling their pants up or down (n = 14, 34.1%), washing their hands (n = 13, 31.7%), getting on or off the toilet (n = 11, 26.8%), and flushing the toilet (n = 11, 26.8%).
Discussion
Toileting is an important and socially significant skill that has a very real impact on community engagement and social interactions, yet it has been largely under researched for individuals with PWS. The purpose of this exploratory survey study was to gather initial caregiver perspectives to improve the understanding of the existing barriers to toilet training, and common practices. These preliminary findings suggest that although the majority of the caregivers had worked with their children with PWS for long periods of time to develop toileting skills, many upwards of 1 year, more than two thirds of children were still experiencing accidents and other challenges with toileting. These findings are not fully unexpected, as they are consistent with reports of delays and difficulties with toileting that are experienced by individuals with other disabilities (Equit et al., 2013; Matson et al., 2011). However, in addition to verifying that these challenges extend to the PWS population, the findings bring up the additional concern that many toilet training methods used by caregivers, including many recommended for people with developmental disabilities, were largely unsuccessful. Lack of success in some cases led to the use of punishment, which emphasizes the need for the customization of existing toilet training programs to suit the needs of children with PWS.
There were a variety of physical and developmental characteristics specific to PWS that were reported to play a role in toileting difficulties. The findings suggest that there are some unique features, such as fine and gross motor deficits and low muscle tone that appear to have a significant impact on toileting success. While some reported features are not uncommon among the disability population (e.g., communication difficulties and behavior challenges), over 90% of caregivers reported that low muscle tone, a feature unique to PWS and resulting from growth hormone deficits (Driscoll et al., 2017), played a role in delaying their child’s toileting skills. The presence of low muscle tone was reported to impact a variety of aspects of toileting, including detecting the need to urinate or defecate, physical initiation of urination or defecation, difficulty with balance (e.g., sitting upright on the toilet, climbing potty stairs, balancing to wipe), and difficulty with many fine motor aspects of toileting, including manipulating clothing, wiping, flushing, and washing hands. These challenges further complicate the toileting process for caregivers and increase the likelihood that the toileting process will not only have an increased duration, but is also likely to require the implementation of a very specific and consistent set of strategies. These strategies need to not only support skill development, but also to ensure sufficient reinforcement is present to prevent toileting from becoming aversive, especially when there is slow or minimal progress, as this is important for prevention of escape related behaviors which may further complicate the process.
The results of this study strongly support the need to explore applications of evidence-based interventions to facilitate the development of toilet training for individuals with PWS. There is an extensive amount of research to support the use of behavior analytic intervention to address toileting training needs of individuals with ASD and other developmental delays (e.g., Azrin & Foxx, 1971; Cicero & Pfadt, 2002; Cocchiola et al., 2012; Greer et al., 2016; Paquet Croteau et al., 2023; Rinald & Mirenda, 2012), and a growing body of literature demonstrating the efficacy of behavior analytic programs for addressing a variety of concerns and needs of individuals with PWS (e.g., Bedard, Griffith, Ulm et al., 2023; Bedard et al., 2024). This indicates that modified versions of existing toileting programs may easily be made applicable to the unique needs of children with PWS. However, it is important to note that in addition to the need to manage the unique physical difficulties associated with PWS, many children with PWS do not have access to behavioral therapy or support of any kind (Bedard, Griffith, & Strittman et al., 2023). Therefore, intervention needs to be developed with careful attention to feasibility of implementation by caregivers who are often already over-burdened by the medical demands of PWS (Shivers et al., 2016). Care should be taken to address both PWS specific physical complications, to include medical professionals when needed, and to give strong consideration to easing caregiver burden, especially during intensive programs.
Toileting interventions for individuals with PWS, should focus on positive reinforcement-based procedures and aim to avoid the use of punitive measures. Ethical and effective use of punishment is complex (Ayvaci et al., 2024; Pokorski & Barton, 2021), with potential for detrimental effects, which are not yet fully understood (Fontes & Shahan, 2021). This is particularly relevant for individuals diagnosed with PWS, for whom many physical limitations may impact skill acquisition. To meet this need, toileting interventions for individuals with PWS might incorporate physical supports (such as raised toilet seats or handrails), scheduled bathroom times, positive reinforcement, differential reinforcement, and gradual fading of prompts. These behavior-analytic strategies, hold promise for addressing these unique challenges faced by individuals with PWS, ensuring a compassionate and effective approach to toilet training.
Limitations and Future Directions
The findings from this study offer several important insights into the current status, challenges, and barriers that caregivers face with teaching their children with PWS independent toileting skills, though there are a number of limitations that should be addressed. First and foremost, this study utilized caregiver self-report data. Self-reporting is an efficient and practical way to gain information on caregiver perspectives of their perceived needs and the challenges that they face, however, the findings should be regarded with some caution as self-report data may be influenced by a variety of factors.
Second, all data collected for this study were obtained from caregivers of individuals with PWS. No information was gathered from individuals with PWS themselves. As such, all perceptions and experiences are from the perspectives of the individuals who are assisting with the toilet training procedures, versus the individuals who are actively trying to learn these skills themselves. The specific barriers noted by caregivers may be different from the ones that children with PWS would identify or prioritize. Inclusion of the voices of individuals with PWS, to learn about their perceptions could enhance the information that has been gathered and provide insights that could be used to develop interventions that have higher levels of social validity.
Third, the measure used for this study was developed specifically for the purposes of this study, and as such, has not yet been evaluated for reliability and validity. Additional research is needed to further evaluate this measure to ensure it can, in fact, be used to gather the information that it was developed to gather. Specifically, future research may involve comparisons with established toileting assessments used with other populations or with direct observations, to examine the specificity of the measure as a tool for identifying the barriers and needs that are unique to children with PWS. Additionally, research is needed to evaluate interventions developed based on data collected using this measure. Existing research on toileting interventions for populations with developmental disabilities, particularly ASD, highlights the effectiveness of structured, behavior-analytic approaches (Azrin & Foxx, 1971; Cicero & Pfadt, 2002; Greer et al., 2016). However, no studies have explored the efficacy of such programs for individuals with PWS. Developing an intervention based on these established techniques and adapting them to the unique profiles of individuals with PWS, as guided by information obtained using this measure, would be a significant step forward both in support of this measure as an effective tool for learning about the needs of children with PWS and in the development of interventions to address a crucial developmental milestone for this population.
Finally, this study used a small sample size, specifically comprised of caregivers of children with PWS whose ages ranged from 3 to 15 years. To verify the information gathered, a larger sample size, although often challenging to obtain in the rare disease world, would be preferable. In addition, it would be beneficial to assess whether adults with PWS experience similar degrees of challenges with toileting skills to form a comprehensive picture of the challenges and barriers faced across the life span.
Conclusion
This exploratory study highlights the unique challenges caregivers face in toilet training children with PWS. Tailored interventions, grounded in behavior-analytic principles and adapted to address the physical and behavioral complexities of PWS, are critical for promoting independence and enhancing the quality of life for this population.
Footnotes
Appendix A
Declaration of Conflicting Interests
The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
Funding
This work was supported by a faculty development grant from The Chicago School. The statements in this article do not necessarily represent the views of The Chicago School.
