Depression, Anxiety of Death, and Fear of Death in Family Caregivers of People With Prader-Willi Syndrome: A Mixed Study

Abstract

Background

Family caregivers of individuals with Prader-Willi syndrome face significant challenges that affect their social, economic, personal, and emotional well-being. The mental health of these caregivers remains largely unexplored, particularly regarding their own premature death.

Objective

This study seeks to explicate how caregivers manage their responsibility of providing continuous specialized care for individuals with Prader-Willi syndrome. A mixed research approach was used to uncover depression, death anxiety, and anticipated fear of own death among caregivers of patients with SPW who access a foundation in the state of Hidalgo, Mexico.

Method

A mixed-methods approach was employed, using a sequential explanatory design. The quantitative sample included 15 volunteer participants between 35 and 66 years old, belonging to a foundation in Hidalgo, Mexico. Research instruments had an internal consistency of r = >0.70. Qualitative data was gathered through a focus group, using interpretive description to explore caregivers’ emotional experiences.

Results

Statistical analyses, including Gamma and Kendall Tau tests, revealed significant correlations (P = 0.01) between caregivers’ anticipated fear of death and the levels of death anxiety and depression. The qualitative findings yielded 3 principal themes: uncertainty about future self-sufficiency, fear of the future if they pass away, and the crucial role of community support.

Discussion and Conclusion

This methodological mixed study reveals a correlation between anxiety about the future, fear of death, and the emotional need for support. Continual emotional support and counselling are crucial for caregivers responsible for PWS patients’ care.

Introduction

Prader-Willi Syndrome (PWS) is a rare congenital alteration that results from the loss of genetic expression within a segment of the paternal chromosome 15q11-q13. In other cases, uniparental disomy appears with 2 pairs of chromosome 15 of the mother’s PWS child. ¹

PWS presents an unknown aetiology at a time ranging from during or near the moment of conception. Worldwide statistics reveal that between 12 000 and 15 000 people suffer from it, regardless of gender and race.^1,2

The PWS presents different phases. The first is Phase 0, which occurs during gestational age and is marked by decreased fetal movements and lower birth weight. The second is Phase 1a, characterized by hypotonia and feeding difficulties, such as minimal or no signs of hunger and weak sucking that requires assistance, either through feeding tubes or orally with specially designed widened nipples. The third is Phase 1b (9-25 months), during which children grow steadily along the growth curve with normal feeding. In Phase 2a (2.1-4.5 years), children experience weight gain without an increase in appetite or excess calorie intake but may become obese if they follow a “typical” toddler diet consisting of 70% carbohydrates. In Phase 2b (4.5-8 years), there is weight gain accompanied by increased appetite; they may consume more food than a typical child but may feel satiated and voluntarily stop eating. By the time children reach Phase 3 (8 years-adulthood), they develop hyperphagia and rarely feel satiated, constantly thinking about food, and may resort to stealing food or money for food, eating from garbage or other undesirable sources, or breaking into neighbors’ houses in search of food, which can lead to significant weight gain if unsupervised. Finally, in Phase 4 (adulthood), the appetite may fluctuate. Still, a key component is a marked improvement in appetite control compared to their younger years, along with a reduction in major tantrums and food-related crises. However, most adults have not reached this phase, and some may never do so. ³

Additionally, maladaptive or oppositional behaviours, obsessive-compulsive behaviours, aggression, and anxiety are observed. ⁴

Due to the physical, cognitive, and psychiatric changes associated with PWS, caregiving becomes a challenge that may be intensified in the Latin context, ⁵ particularly in Mexico, where care is predominantly provided by women. ⁶ As a result, caregivers of PWS patients encounter multifaceted barriers, such as the negative perception of psychosocial labour that they experience and lower income. ⁷

The psychological effects on family caregivers of patients diagnosed with this PWS may result in unfavourable emotional responses to the condition. Frequently, they need to know about PWS but have never been in contact with it. ⁴ These reactions could include emotions of despair, ambiguity, helplessness, remorse, and social detachment, which might cause anxiety and depression. Due to the increasing complexity of PWS symptoms in patients, the family caregivers’ duties expand, making it a full-time job.^6,7

Caregiver syndrome resembles burnout syndrome and can impact family caregivers, inducing a sense of ineffectiveness, along with expected grief for the patient’s potential future helplessness and intense emotional responses. ⁸ These emotional responses refer to separation anxiety, loneliness, denial, sadness, anger, guilt, exhaustion, and despair.^9-11

The impact of these emotional responses is well-documented in empirical research. For instance, Aranda-Paniora ¹² discovered that 17% of a population of 240 primary caregivers had depression, while 13.5% demonstrated suggestive anxiety scores. In a related study, Cabada and Martínez ¹³ discovered that among the 56 primary caregivers surveyed, 98% displayed symptoms of anxiety ranging from mild to severe, whereas 36% of the group displayed mild to severe depressive symptoms, as measured by the Beck Anxiety and Depression Inventory. In a comparable dissertation, Vice ¹⁴ discovered a significant correlation between the patient’s hyperphagia and the caregiver’s stress levels among a sample of 278 caregivers (226 women) experiencing mild-to-moderate stress (84.1%). The evaluation results indicated a moderate correlation between perceived social support and stress management. Moreover, the caregivers had minimal free time outside their caregiving duties (60% reported dedicating 40 or more hours per week to caregiving, and 70% of these individuals mentioned not having a backup or relay for their caregiving activities the year before their evaluation). Lastly, 46% of these caregivers stated that the individuals they were caring for had no leisure activities without their presence.

In addition, during an interview conducted by Prader-Willi Catalunya ¹⁵ with two family caregivers of individuals with Prader-Willi syndrome, they voiced their concerns about the welfare of their ill family member after their passing. One caregiver expressed their main concern, stating, “Our primary concern is the future of our son after we are no longer here.” Similarly, another caregiver acknowledged the issue, saying, “I try not to think about it, but it is the future,” and expressed hope that their loved 1 would be surrounded by caring individuals when they are no longer present.

These personal fears reflect a broader phenomenon in which caregivers experience significant anxiety about death and the future. This death anxiety is often intertwined with feelings of fear, worry, or depression related to the anticipated death of their loved one. ¹⁶ For instance, Braun et al ¹⁷ investigated fear of cancer recurrence in patients with primary brain tumors and their caregivers, finding that symptoms of depression, generalized anxiety, and death anxiety were associated with fears of cancer recurrence in both patients and caregivers. Consequently, heightened death anxiety in caregivers was linked to reduced fear of cancer recurrence in patients. However, the connection between depressive symptoms and fear of cancer recurrence was more pronounced in caregivers than in patients.

This broader phenomenon is further illustrated through qualitative research on family caregivers of individuals with Prader-Willi Syndrome. These caregivers face a range of crises that contribute to their emotional strain and acceptance of their caregiving roles. Among the crises, the emotional strain of managing the dietary habits of a dependent individual was particularly significant, particularly during the period of motor development when hyperphagia was evident. Furthermore, the restriction of social interaction was caused by the adjacent social community’s inadequate understanding of the consequences of care, contributing to the psychological strain. Lack of public awareness and the need for more health care systems to prepare for infrequent diseases contribute to the problem. ¹⁸

This study examines the experiences of caregivers responsible for individuals with PWS who needs specialized medical attention and dietary restrictions, in addition to facing cognitive and behavioral symptoms, as well as associated psychopathologies.

The findings of this study will enhance our understanding of the caregiver’s role and inform the development of tailored care guidelines and psychological intervention programs; hence, a mixed research approach is utilized to present the occurrence of depression, death anxiety, and fear of death among caregivers of PWS patients who benefit from a foundation that offers opportunities and resources to individuals with Prader-Willi syndrome by supporting diagnosis and treatment, as well as training for parents and primary caregivers, located in the state of Hidalgo, México.

Method

Study Design

The study employed a mixed methodology of sequential explanatory design, encompassing both quantitative and qualitative perspectives. The quantitative aspect correlated dimensions of anticipated fear of death, level of death anxiety, and depression. The qualitative analysis utilized an interpretive description study, ¹⁹ to explore the emotional experiences of primary caregivers of individuals with Prader-Willi Syndrome (PWS)—the qualitative analysis aimed to provide visibility of the caregivers’ struggles, fears, and coping mechanisms. To add more support to the qualitative study, it employed a systematic approach that included participant identification, data collection, coding, interpretation, and validation.

Participants

Fifteen Mexican caregivers were selected to participate in the study, aged 35 to 66 years, including 13 females (86.7%) and 2 (13.3%) males. Participants volunteered from either rural or urban areas. Caregivers were recruited through flyers distributed within the Foundation and via the Foundation´s WhatsApp group with its members. The only inclusion criteria was the principal caregiver a person with PWS in the foundation. Nobody declines to participate. Forty percent (n = 6) of the caregivers were informed of the diagnosis before individuals with Prader-Willi Syndrome (PWS) reached their first year of life. Another 40% (n = 6) received the diagnosis when the individuals with PWS were between 1 and 5 years old. The remaining 20% (n = 3) received the diagnosis when the individuals were between 6 and 11 years old. Concerning the caregivers’ kinship, it can be observed from Table 1 that out of a total of n = 15 caregivers, only n = 1 was a sister. At the same time, the remaining n = 14 were parents of individuals with PWS. A qualitative analysis involved 7 out of 15 participants, consisting of 2 men and five women from various regions of Mexico. Inclusion criteria were determined to be individuals who meet the following conditions: the primary unpaid caregiver of a person diagnosed with PWS, be at least 18 years old (legal age in Mexico), residing in Mexico, and belonging to the Hidalgo Foundation.

Table 1.

Demographic Data of Family Caregivers and Individuals Diagnosed With PWS.

Primary Caregivers
Female	Married	9 (60%)
	Divorced	2 (13.3%)
	Extramarital partnership	2 (13.3%)
	Single	-
Male	Married	1 (6.57%)
	Divorced	-
	Extramarital partnership	-
	Single	1 (6.57%)
Age		M = 44.67, DE = 8.38
Individuals with a diagnosis of PWS
Female	6
Male	9
Age	Range 1.75-49; M = 13.78, DE = 11.55
Age of diagnosis	Range 0-10; M = 3.67, DE = 3.27

Source: In-home.

Data Collection

The Death Anxiety Scale (DAS) is a self-administered instrument developed by Templer. ²⁰ In the assessment of items, a score of 1 was assigned to 9 items when the accurate response was selected, while the remaining 6 were awarded a score of 1 when they were answered as false. The death anxiety score ranges from zero to fifteen, with the lowest and highest scores being zero and fifteen, respectively. The validation process was conducted in Mexico by Rivera-Ledesma and Montero-López, ²¹ who collected a total sample of 314 individuals. The sample was categorized into elderly participants (n = 165) and university students (n = 149). An internal Cronbach alpha consistency of r = .91 was observed on the scale.

The standardization of the Beck Depression Inventory (BDI) was carried out by Jurado, ²² and it involves 21 items. The scores range from 0 to 63, with the maximum indicating severe depression. In the analysis of internal consistency, the value of r = .87 was determined. Mexican standards were acquired for each subsample by the authors utilizing the percentile range procedure. The BDI and the Zung scale were found to have a concurrent validity of r = 0.70 and r = 0.65 among patients diagnosed with depression and high school students, respectively. ²³

The Spanish-adapted version of the Collett/Lester Scale of Fear of Death is composed of 4 subscales: Fear of Own Death, Fear of the Process of Dying Own, Fear of the Death of Others, and Fear of the Process of Dying of Others. With 28 items, each of the subscales contains 7 items. The participants’ responses were measured using a Likert scale ranging from 1 to 5, with 1 indicating no fear and 5 indicating a considerable fear of death or the dying process. Romero’s ²⁴ study demonstrated a reliability of r = .95.

Following this, the researchers moderated a focus group on Zoom and formulated 3 questions to address key areas of concern identified in the literature about caregivers emotional suffering. The researcher used these questions to support the Focus Group, which focused on the emotional situation descriptions.

• 1. What worries you, causes anxiety, or makes you uncertain about being the principal caregiver of a person with PWS?

• 2. How prepared would you like your children to be when you are no longer with them?

• 3. How much do you care for your physical and mental health?

Procedures

The written informed consent was explicitly established, with the participants agreeing to voluntary involvement. The confidentiality of the information collected was guaranteed, with its usage strictly limited to research purposes. Additionally, the participants could withdraw from the study at any time. After obtaining written authorization for instrument application and focal group implementation, an expert in the use of psychological instruments administered individual applications lasting approximately 20 minutes via a video call on Zoom ²⁵ in response to the geographical distance. Participants were requested to be in a well-ventilated and well-lit environment with minimal stimuli.

Subsequently, the focus group was conducted via videoconference, using questions from the proposed questionnaire. The session lasted for 1 hour and 30 minutes, with 7 out of the 15 Family Caregivers in attendance. The methodology employed enabled the reliable collection of data through a consent process in which participants gave permission to record their voices and were offered the option to withdraw from the study at any time without consequences. To ensure confidentiality, all audio and video recordings were securely stored on one of the researchers’ personal computers, and each participant was assigned a number instead of using names. This approach allowed for the creation of detailed and verbatim transcriptions. Following the framework of Miles and Huberman, ²⁶ the data’s meaning, quality, and interpretations were assessed for internal consistency and reliability.

Ethical Considerations

The present study was conducted in 2 phases, following the provisions outlined in the Mexican General Law on Health in Research. The first phase was an evaluation carried out from September to December of 2023, while the second phase was a focus group held in July of the same year. The study was classified as non-invasive and did not pose any risk to the physical or psychological well-being of the participants. It was submitted and approved by the Ethics Committee of the Health Sciences Institute with the registration number ICSa228/2023. Additionally, the study followed the guidelines outlined in the Declaration of Helsinki from 1964.

Statistical Analyses

Descriptive statistics using a statistical package, SPSS ver.25, were utilized to obtain frequencies and percentages to synthesize and characterize study variables. In addition, non-parametric statistics, such as contingency tables and association measures such as Kendall’s Tau-b and c coefficients and Gamma index, were employed to establish correlations between the expected fear of death and its dimensions and the levels of depression and death anxiety.

Results

A data analysis was conducted using frequencies and percentages to address the research objectives. During the first stay, frequencies were determined for each level of depression by administering the Beck Depression Inventory (BDI). The results showed that n = 10 (66.7%) of the participants were identified as having minimal depression, while n = 5 (33.4%) were found to have mild to severe depression (Table 2). In regards to the levels of death anxiety, it was detected that 9 caregivers (60%) displayed an average death anxiety level. Concerning the fear of death, 33.3% of caregivers (n = 5) expressed a high, moderate level of fear in the subscale of Fear of the Process of Dying Own (MPrP). In contrast, moderate low dominated the dimension of Fear of Death Own (MMP) with 33.3% of participants (n = 5). Concerning the Fear of Death of Others factor (MMO), a moderate-high level was detected in 7 participants (46.7%). The Fear of Dying of Others dimension (MPO) also revealed moderate and high levels, with 5 (33.3%) participants each.

Table 2.

Test Findings on Early Death Anxiety, Anxiety, and Fear.

Depression Inventory	GFD	FDP	FOD	FDO	FDPO
Kendall Tau-b	.713**	.698**	.683**	.612**	.641**
Kendall Tau-c	.545**	.569**	.557**	.474**	.510**
Gamma	.958**	1.00**	.959**	.909**	.959**
Death anxiety
Kendall Tau-b	.723**	.622**	.733**	.698**	.723**
Kendall Tau-c	.653**	.600**	.707**	.640**	.680**
Gamma	1.00**	.882**	1.00**	.889**	1.00**

Note. FDP: Fear of the Dying Process, FOD: Fear of Own Death, FDO: Fear of the Death of Others, FDPO: Fear of the Dying Process of Others, GFD: General Fear of Death.

Ultimately, we achieved the categorization of the scores derived from the Collett/Lester Fear of Death Scale. Our findings revealed that the caregivers exhibited a General Fear of Death (MGM) that spanned from moderately low (n = 1, 6.7%) to an intense fear of death (n = 2, 13.3%, as presented in Table 2).

To establish a correlation between the perception of caregivers regarding the anticipation of death and its dimensions (FOD, FDP, FDPO, and FDPO) with the level of depression and anxiety before death, various association measures were used by applying contingency tables for ordinal measurement scales. All variable pairs displayed significant magnitudes, as shown in Table 3.

Table 3.

The Statistical Correlation Between the Dimensions of Anticipated Fear of Death and the Levels of Death Anxiety and Depression.

Beck Depression Inventory	Female	Male	Total
Minimum	8 (53.3%)	2 (13.3%)	10 (66.7%)
Light	3 (20.0%)	-	3 (20.0%)
Moderate	1 (6.7%)	-	1 (6.7%)
Severe	1 (6.7%)	-	1 (6.7%)
Death anxiety
Low	1 (6.7%)	2 (13.3%)	3 (20.0%)
Medium	9 (60.0%)	-	9 (60.0)
High	3 (20.0%)	-	3 (20.0%)
Death fear		FDP
Moderate low	2 (13.3%)	2 (13.3%)	4 (26.7%)
Moderate	3 (20.0%)	-	3 (20.0%)
Moderate high	5 (33.3%)	-	5 (33.3%)
High	3 (20.3%)	-	3 (20.3%)
		FOD
Low	1 (6.7%)	-	1 (6.7%)
Moderate low	3 (20.0%)	2 (13.3%)	5 (33.3%)
Moderate	4 (26.7%)	-	4 (26.7%)
Moderate high	4 (26.7%)	-	4 (26.7%)
High	1 (6.7%)	-	1 (6.7%)
		FDO
Moderate low	-	1 (6.7%)	1 (6.7%)
Moderate	4 (26.7%)	-	4 (26.7%)
Moderate high	6 (40.0%)	1 (6.7%)	7 (46.7%)
High	3 (20.0%)	-	3 (20.0%)
		FDPO
Moderate low	-	1 (6.7%)	1 (6.7%)
Moderate	4 (26.7%)	1 (6.7%)	5 (33.3%)
Moderate high	4 (26.7%)	-	4 (26.7%)
High	5 (33.3%)	-	5 (33.3%)
		GFD
Moderate low	1 (6.7%)	-	1 (6.7%)
Moderate	6 (40.0%)	1 (6.7%)	7 (46.7%)
Moderate high	5 (33.3%)	-	5 (33.3%)
High	2 (13.3%)	-	2 (13.3%)

Note. GFD: General Fear of Death, FDP: Fear of the Dying Process, FOD: Fear of Own Death, FDO: Fear of the Death of Others, FDPO: Fear of the Dying Process of Others, **P = 0.01; *P = 0.05.

Qualitative Analysis

This qualitative analysis is anchored to an interpretive description study, ¹⁹ which provides an understanding of this methodological alternative approach to investigating complex human experiences. According to Kirkham & O’Flynn, ¹⁹ the design strategies in interpretive description borrow strongly from some aspects of grounded theory, naturalistic inquiry, and ethnography, drawing on values associated with phenomenological approaches inherent in the methods of data collection. The study’s framework sheds light on describing caregivers’ struggles, fears, and emotionally challenging interpretings, This understanding guided the formulation of the research question: Does the ongoing management of responsibilities by primary caregivers of individuals with Prader-Willi Syndrome (PWS) heighten their anxiety about the future, fear of death, and need for social support?

The researchers’ intuition was pivotal in shaping the qualitative analysis, facilitating a deeper exploration of caregivers’ emotional experiences. As a research group, we collectively integrated our intuitions, perceptions, and insights drawn from the caregivers’ narratives, aiming to illuminate the intricate emotional landscape caused by their caregiving roles.

Emotions expressed during the focus group were documented, especially concerning fear of death and hopelessness about potential caregiver loss. Impressions and feelings were also conveyed through this medium. In the retrospective review of reflective notes, comments like “This sadness is overwhelming; what about hope? It is like watching parents fade away behind the screen” were recorded, along with reflections like, “The children are important, but the parents are important too. It is an emotional release that needs constant work with them.”

The analysis of the naratives and transciptions was conducted through the following strategies:

Coding Process

A coding framework was employed, which included open, axial, and selective coding. ²⁷ This coding process used an open coding proposal that helped in the identification of the general ideas, phrases tnat conducted axial coding for conexions between this phrases and ideas of the caregivers. Finally, there was applied a selective coding to build up the final categorial system. The final category system was analysed in the QDA Miner Lite qualitative software were researchers analysed the frequency of each code. ²⁸ The emerging voices of primary caregivers enriched the research, fueling reflections on the fear of death. For this coding process, researchers relied on their intuition to approach the experience of being a full-time caregiver for a person with PWS. The following elements supported them:

Emerging Questions from Caregivers

Caregivers shared concerns reflecting their distress and anxiety. The most significant questions for this research were identified (see Table 4). Notably, the emotional content of each question posed by participants was perceived as deeply rooted in pain and anguish. Researchers intuited that these questions not only reflect a fear of death but also the emotional burden and responsibility felt as caregivers, which in turn fostered reflection on the topic.

Table 4.

Emerging Questions and Insights From the Primary Caregiver During the Focus Group.

Caregiver Number	Emerging Questions and Insights from the Primary Caregiver during the Focus Group	Relationship	Age and Gender of the Person with PWS Being Cared for
1	If I am gone, who will take care of him? I Must handle the will to ensure he is not left without support if I suddenly die	Mother	13, male
2	I am preparing my daughter to care for her brother when I am gone. What other option do we have?	Mother	6, male
3	Who will take on the role of guardian?	Father	7, female
4	There is much information about down syndrome, but what about us?	Father	5, male
5	What happens if they take my son out of the dining room? He goes to the trash can. There is no sense of fullness	Mother	8, male
6	Being a caregiver for PWS means being available 24/7	Mother	5, female
7	“Let me get my PWS out, and I will listen to you”?	Sister. Mother is deceased	49, female

Source: In-home.

Emerging Categories

The analysis revealed 3 primary categories:

• a. Uncertainty about the future: Caregivers expressed concerns about their children’s future independence and care needs, articulating deep fears regarding what will happen to their children after their death.

• b. Ongoing caregiver responsibilities: They expressed the necessity of fulfilling ongoing responsibilities to ensure the survival of the individual with PWS.

• c. Learning and emotional climate: Most caregivers indicated that daily tasks caring for individuals with PWS lead to community learning about PWS. Although the emotional climate is often hopeless, caregivers support 1 another.

Simultaneously, the categorical analysis was conducted through a continuous iterative process, described below:

Throughout the study, continuous comparisions were made between new data and existing codes, ²⁹ allowing for refinement and the creation of new codes, particularly regarding the prevalent fear of death in the narratives. The results and the final categorical system are presented in Table 5. Specific categories were eliminated as they did not contribute to the focus on primary caregivers and diverted attention toward individuals with PWS. For the researchers, this represented a collective decision-making exercise involving debate and a sense of frustration regarding categories such as the need for therapeutic support for family members with PWS. This category was ultimately dismissed because, despite the clear need for care and support for individuals with PWS, the primary guiding framework was the qualitative research question. This emphasis focused on primary caregivers and their significant need for support.

Table 5.

Distribution of Codes of Interview Data From Seven Family Caregivers of the 7 Volunteers Diagnosed With Prader-Willi Syndrome (PWS).

Category	Code	Description	Count	%Codes
Anxiety for the future	UNCF	Uncertain future in self-sufficiency	11	15.30
Anxiety for the future	FCD	Fear of the caregiver about the future if die	7	9.70
Anxiety for the future	BED	Uncertain control of the child with a more frequent binge eating disorder	1	1.40
Caregiver task	STS	Complete task required immediately for the survival	2	2.80
Caregiver task	ERM	Essential role of the mother	4	5.60
Caregiver task	FCRS	Future central role as the family caregiver of the sister	5	6.90
Caregiver task	GS	Massive support from the grandmother	3	4.20
Caregiver task	ACRS	The actual central role of the sister	2	2.80
Caregiver task	PEP	Provide a good eating plan	4	5.60
Caregiver task	SPPS	Search for psychological and psychiatric support	2	2.80
Learning and emotional	EP	Empathy of the peers	2	2.80
Learning and emotional	SBP	Stronger blind of the parents and the child	4	5.60
Learning and emotional	TPRE	Trust in the parent´s educative role for future work	4	5.60
Learning and emotional	CSPCS	Community support of the parents of children with the	8	11.10
Learning and emotional	BPED	Barriers of the psycho-educative development	2	2.80
Learning and emotional	ATS	At on older age, increase in tantrums and strength	2	2.80
Family proposals	CPW	Construction of the prader-willi center	2	2.80
Family proposals	WP	Proposal for a handicraft workshop specially designed	3	4.20

Source: In-home.

The interviews were analyzed using the QDA Miner Lite software qualitative data analysis, which involved categorization and a code system. Table 5 presents these results by category, and Figure 1 shows the distribution of the frequency codes.

Figure 1.

Distribution of codes (frequency).

The code UNCF (Uncertain future in the self-sufficiency from the category “Anxiety for the future”) shows the highest response and percentage coding (15.30%) as the 7 family caregivers perceive an uncertain future regarding the degree of self-sufficiency in their children or youngsters diagnosed with PWS. At the same time, caregivers present anxiety about the future when they do not know if their relatives will be self-sufficient; they find a high emotional shelter and community cohesion with other caregivers. They share light, finding resilience and hope. The family caregivers interviewed expressed that the Hidalgo Foundation was central to emotional support and guidance. Thus, the CSPCS code (Community support of the parents of children with the syndrome from the “Learning and Emotional Environment”) is in second place with a coding percentage of 11.10%. In this exact order of ideas, there is a high level of fear of dying in the third place, as found in the quantitative results and the provision of introduction. Fear of dying is recurrent in all family caregivers. Therefore, in third place, there is the code FCD (Fear of the caregiver about the future if it passes from the Category” Anxiety for the future”), with a coding percentage of 9.70%. The family caregivers expressed their concern about dying and, in the future, who will take care of the control of healthy habits and well-being of their relatives diagnosed with PWS. Caregivers report that attending to a person with PWS means a great effort to allocate time, attention, and energy. Furthermore, a family caregiver who has assumed responsibilities from her now-deceased parents expresses deep concern for her sibling’s future when she too is no longer around. Next, we find the frequency coding as follows.

So, in this sequence of finding the frequency of codes that express this binocular vision in the interpretation of the results at a quantitative and qualitative level, we precisely find the code FCRS (Future central role as the family caregiver of the sister from the category “Caregiver tasks”) with a frequency code of 6.90%. This code means that the younger or older sister of the person diagnosed with PWS will be the family caregiver shortly. Since she is a child, it is about learning these central functions in managing a family member with PWS at home. Family caregivers feel guilty for passing this self-fulfilling prophecy to their daughters. However, they consider that only the family can commit to this arduous care for life.

The following frequency code is about daily feeding in this same line of daily care. Code PEP (Provide a good eating plan from the category “Caregiver tasks” appears with a code frequency of 5.60%. The family even expresses that they must make diametrical changes in their eating habits as a family, many times depriving themselves of cravings, hiding sweets, organizing themselves in the market to buy preferentially vegetables and healthy food, all to control binge eating, which they refer, are common and gradually for frequently with age in their relatives with PWS.

In the same frequency range, 3 codes appear from the category “Learning and emotional environment”:

• • TPRB (Trust in the parent’s educative role for the future work)

• • SBP (Stronger Blind of the parents and the child)

• • ERM (Essential part of the mother)

The 3 last-mentioned codes appear with a frequency of 5.60%. The interpretation of the qualitative data indicates that family caregivers carry out, with great effort, daily teaching on self-care, self-regulation, and work skills. Caregivers are confident that these teachings will promote the well-being and future self-sufficiency of their relatives diagnosed with PWS. In addition, future caregivers can learn these lessons and build a family support network. Family caregivers trust that this family network will always be there, even when they pass away. The following code, SPB, was explicitly found in the parents since they are the ones who perceive that the emotional blindness of their daughter or son with a PWS diagnosis has become stronger over the passing years. One father calls this stronger blind a “benefit of the PWS.” As follows, the ERM code lecture reflects that the mother of PWS is a central family caregiver. The life code of a mother states: “I am the 1 who is always at home; who else knows more than me about her?” This last Live Code shows the high commitment of 1 mother of a person diagnosed with PWS.

The commitment mentioned above of the family caregivers about the future self-sufficiency of the PWS familiars gives place to the following code: WP (Proposal for a handicraft workshop specially designed from the category “Family proposals”) and GS (Huge support of the grandmother from the category “Tasks of caregivers”). According to the interviewees’ replies, the code WP is also for daily occupational therapy. They referred to immense energy from their PWS familiars, so providing activities to have a positive learning and productive time with these crafts workshops is substantial. It is essential to mention that family caregivers found craft workshops feasible for all learners with PWS.

The following codes with a frequency coding of 2.80% are:

• • BPE (Barriers in the psycho-educative development from the category “Learning and emotional environment”).

• • ACRS (Actual central role of the sister from the category “Tasks of caregivers”).

• • SPPS (Search for psychological and psychiatric support from the “Caregiver tasks”).

• • ATS (At an older age, there is an increase in tantrums and strength from the category “Learning and emotional environment”).

• • STS (Complete tasks required immediately for survival).

• • PWS (Construction of the Prader-Will centre from the category “Family proposals”) and EP (Empathy of the peers from the category “Learning and emotional environment”).

Accor1ding to the interpreting lecture, BPE responds to diversity and competencies of learning skills in children and youngsters with PWS. Nevertheless, interviewees perceive some failures in educational services. Mainstream schools are not prepared to receive exceptional cases of students w1ith PWS diagnosis. The range of learning to read is around 8 to 15 years old. Children and youngsters develop essential writing and reading competencies at home. Despite these educational barriers, 2 interviewees reported that they wish for their children with PWS to pursue a university degree. Primary teaching, and they believe that reaching this target is possible. As follows, the SPS code has the same frequency relevance. This code states that the family caregivers must search for psychological support since being the family caregiver of a person diagnosed with PWS means significant emotional and psychological energy. They also sometimes feel depressed because there are days with unhappy feelings about the future. Consequently, family caregivers state that maintaining mental health is necessary to continue being the family caregiver of a person with a PWS diagnosis.

In this exact order of ideas, we find the following code, ATS (At an older age, increase in tantrums and strength from the category “Learning and emotional environment”), at the same frequency coding level of 2.80%. The caregivers referenced the ATS code, particularly during the youth period. This indicates that a family with a PWS diagnosis requires significantly more physical strength to manage a person with PWS, and the frequency of their binge eating disorders escalates. Family caregivers report that regulating binge eating disorders becomes increasingly difficult as individual with PWS age. Based on their experience, the frequency of these disorder rises with age.

So, the need for help in containing emotional tasks and the daily functions of a family caregiver is continuous. Then, there is a strong need for support from the code CPW (Construction of the Prader-Willi centre from the category “Family proposals”). Finally, in this same frequency of 2.8%, there is the code EP (Empathy of the peers from the variety “Learning and emotional environment”). This code means that the family caregivers refer to empathy from their children’s and youngsters’ classmates and sympathy from some of their working mates. Finally, the last code is BED (Uncertain control of the child with a more frequent binge eating disorder from the category of “Anxiety for the future”) with a frequency coding of 1.40%. BED anxiety for the future as the binge eating disorder is more frequent with ageing. Again, this last code reveals the caregivers’ need for continuous counselling and emotional contact for the daily tasks that represent being a family caregiver of a person with a PWS diagnosis.

In conclusion, for the qualitative results, family caregivers need continuous counselling and emotional support for the daily tasks that represent being a family caregiver of a person with a PWS diagnosis.

Finally, data validation and internal consistency were studied to assess how well the narratives and interpretations align with the participants’ realities and perspectives. Specifically, 3 checking questions facilitated this análisis:

Are the Individuals Reliable Informants as Primary PWS Caregivers?

All the participants were primary caregivers of individuals with Prader-Willi Syndrome (PWS), making them reliable and well-informed sources. Their long-term experiences and deep emotional involvement with PWS provided rich, authentic insights into the caregiving process.

Are the Descriptions of the Participants Detailed and Rich?

The caregivers’ narratives were comprehensive and deep, allowing for a thorough understanding of their emotional situations and needs. These detailed descriptions enabled the researchers to extract meaningful themes and guided the research questions.

Are the Descriptions of the Participants Detailed and Rich?

The caregivers’ narratives were comprehensive and deep, allowing for a thorough understanding of their emotional situations and needs. These detailed descriptions enabled the researchers to extract meaningful themes and guided the research questions.

Is There Inter-rater Reliability in This Study?

Researchers independently coded the data and then crosschecked the resulting codes and interpretations, The independent coding and crosschecking contribute to the consistency of the categorical system’s coding process. Therefore, this inter-rater process ensured that the final codes reflected a shared understanding of the data.

In conclusion, the qualitative results revealed that primary caregivers of individuals with PWS experience significant emotional strain. These caregivers expressed a clear need for continuous counselling and emotional support to manage their daily tasks and challenges, reinforcing the importance of addressing caregiver well-being.

Mixed Analysis

Caring for a person with PWS creates significant emotional strain, as evidenced by quantitative data indicating that 33.4% of caregivers experience mild to severe depression, while 60% report moderate levels of death anxiety (Table 2). This mental health burden is directly linked to the responsibilities and uncertainties caregivers face, such as concerns about the future self-sufficiency of their loved ones with PWS. Qualitative findings support this, as caregivers voiced their anxiety about the future (coded as “UNCF”), their fear of dying before securing long-term care for their children (coded as “FCD”), and their guilt over transferring caregiving responsibilities to siblings (coded as “FCRS”). These stressors serve as triggers for emotional and psychological effects, including depression, death anxiety, and fear of death.

There is a clear connection between high levels of caregiving demands and increased psychological distress. The quantitative data reveals a correlation between elevated fear of death (46.7% of caregivers reported moderate to high fear of others’ death) and concerns regarding future caregiving. This aligns with qualitative insights, where caregivers often express fears about who will care for their child with PWS if they pass away (coded as “FCD”). The community support they receive, as articulated in qualitative interviews (coded as “CSPCS”), appears to inversely correlate with these fears, suggesting that greater community involvement may alleviate some psychological distress. Thus, the more support caregivers perceive from others, the less isolated and anxious they feel, indicating a potential negative correlation between community support and caregiver stress levels.

In conclusion, the interpretative description study was flexible and provided a basis to integrate the narrative analysis with the researchers’ insights. This method made it more evident that caregiving is complex and multifaceted, providing a more comprehensive perspective on the concerns of caregivers of individuals with PWS.

Discussion and Conclusion

The research objective was achieved as the findings demonstrate that caregivers who are closest to their relatives with PWS may display symptoms of depression and anxiety regarding the death of their family members and their mortality.

Previous studies have examined the effects of caregiver overload, but none have specifically studied those caring for individuals with PWS. However, symptoms of anxiety and depression resulting from overload can be observed in caregivers of patients with various conditions despite each group having unique concerns and responsibilities for their loved ones.

This study found that the prevalence of depression symptoms in caregivers was similar to that of previous studies conducted by Cabada and Martínez ¹³ and Aranda-Paniora. ¹² Around 30% of caregivers were found to have mild to severe depression symptoms.

Some coincidences were discovered in the qualitative research conducted by Kowal, Skrzypek and Kocki. ¹⁸ Family caregivers expressed their concerns about the future and who would care for their loved ones with PWS. This is because they know their children with PWS cannot be self-sufficient. As a result, they are taking action to secure their legal incapacitation. Additionally, considering siblings as possible caregivers increases the moral burden of today’s family caregiver.

This pioneering research on the subject has several advantages. It opens up new lines of research that can help deepen our understanding of the importance and conditions in which individuals with PWS are positioned. These individuals have expressed a desire to be taken more into account, as little is currently known or said about this syndrome and the care it requires.

Studies have explored the anxiety caregivers may feel about their loved one’s potential death from illnesses like cancer.^16,17 This study aimed to explore the emotional experiences of primary caregivers of individuals with PWS. It seemed to researchers that death anxiety not only pertains to the potential loss of a loved one but also extends to the caregivers’ fear of their death. This anxiety is driven by concerns regarding the delegation of care, the loved one’s self-sufficiency, and, in particular, the uncertainty surrounding the maintenance of healthy eating habits. These findings underscore the importance of employing a mixed-methods approach. Thus, highlighting the importance of a mixed-methods approach.

Conducting mixed studies in the health field has the advantage of expanding our knowledge of people’s real-life experiences. ³⁰ Combining quantitative and qualitative data can give us a more comprehensive understanding of the findings. Although mixed approaches have gained acceptance in this sector, only some studies have utilized this method.

The research is limited by the sample size, which needs to be more significant in order to accurately represent the population. As a result, the data on symptom prevalence in family caregivers cannot be generalized. It is recommended that a new study with a larger sample of family caregivers of patients with PWS be conducted to address this issue. Additionally, researchers encountered limitations due to the geographical distance, making it impossible to accompany the caregivers physically. Another limitation of this research was the of analysis regarding the distribution of caregiving roles during the qualitative data collection, which could have offered deeper insights into how these factors influence the caregiving experience. The qualitative methodology faced challenges. It was not the intention of the researchers to reduce the interpretative descriptions by using codification but to provide side elements to enrich this analysis. In this regard, we present just a perspective of our lecture. The interpretative descriptions offered valuable insight and guidance during this challenging process. Additionally, it is crucial to conduct mixed studies on caregivers in this population, as they can provide valuable insights into managing overload and self-care practices for staying healthy, as well as their support networks.

The foundation, as the only organization in Mexico dedicated to PWS, plays a crucial role in supporting individuals with PWS and their families. Without such resources, caregivers may experience emotional deterioration due to isolation and uncertainty. Beyond offering training, courses, and guidance, the foundation has taken important steps by developing psychological support programs for families and groups, especially for parents. These initiatives complement the individual therapy provided to people with PWS by psychological staff, helping families feel understood, supported, and less isolated. This underscores the critical importance of having accessible support systems to alleviate caregiver burden and improve emotional well-being.

In conclusion, family caregivers have levels of depression, mainly mild to moderate, as well as anxiety about death and fear of death of others and their death. In addition, they fear what may happen to their relative with PWS when they die in the future and that no one can take care of them.

ORCID iDs

Monserrat Abigail Mora-Lagunes Recinos https://orcid.org/0009-0005-1829-964X

María Luisa Escamilla Gutiérrez https://orcid.org/0000-0002-6318-4519