Participation and engagement in family activities among girls and young women with Rett syndrome living at home with their parents – a cross-sectional study

Abstract

Purpose

To describe the extent of participation and engagement in family activities and explore variables potentially impacting on these factors in family activities among girls and young women with Rett syndrome (RTT) under the age of 21.

Materials and methods

The Child Participation in Family Activities (Child-PFA) questionnaire was sent to parents in the target group (n = 42). Additionally, age, number of siblings at home, ambulation level, clinical severity and level of hand function were recorded to explore possible impact. Data were analyzed using descriptive statistics, Fishers exact test and cross-tables.

Results

23 families participated. Highest degrees of participation and engagement were seen in social and stationary family activities. Indoor activities were frequent and showed high levels of participation and engagement, Outdoor activities were infrequent and showed low levels of participation despite a high degree of engagement. Routine activities were frequent but showed moderate to low participation and engagement. A negative association was found between participation in watching a movie and number of siblings living at home, and positive associations between engagement and age in three family activities.

Conclusion

Therapists working with this target group may benefit from focusing on engagement in routine activities and modification of family activities.

IMPLICATIONS FOR REHABILITATION

• Therapists may benefit from focusing on engagement in routine activities in the goal setting process and intervention as they occur on a daily basis, giving the opportunity for development of new skills.

• Therapists may benefit from focusing on assistive devices or other compensatory strategies for outdoor activities and activities that require a certain amount of hand function.

• Therapists may benefit from modifying the family’s activities so that they require more social and mental participation and focus on experiencing different types of sensory input e.g., sound, tactile, visual or vestibular input rather than taking part in the activity by using their hands.

Keywords:

• Rett syndrome
• profound intellectual and multiple disabilities
• participation
• engagement
• family activities
• occupational therapy
• occupation

Introduction

Rett syndrome (RTT) is a rare congenital neurodevelopmental disorder, caused by mutations in the MECP2 gene, almost exclusively affecting females, and occurring among all ethnicities with an incidence of approximately one in 10,000 worldwide [1]. RTT is generally characterized by apparently normal development until 6–18 months of age; hereafter the girls begin to show signs of stagnation and regression in developmental milestones. The girls are severely disabled by physical and mental disabilities such as stereotypical hand movements interfering with purposeful use of hands, disturbed ambulation, and a decreased ability to communicate [1–3]. Furthermore, varying degrees of impairments and co-morbidities are seen such as; abnormal muscle tone, epilepsy, gastrointestinal dysfunction and therefore failure to thrive, scoliosis, and breathing abnormalities [2,3]. A significant relationship between gene variant and clinical severity of RTT has been found [4].

The consequences of RTT are extensive for this small group of girls and young women and their families with physical, psychological, and social aspects of everyday life and quality of life being influenced [5–7]. Girls and women with RTT require extensive help from their families and may have paid assistants in activities of everyday life [3,6,8,9]. Their bodily capacity, social functioning and ability to perform activities in the areas of self-care and mobility are decreasing with age [3,6,9] affecting their opportunities to participate and engage in activities of everyday life. This is of concern as participation (i.e., involvement in life situations [10]) and engagement (i.e., degree of involvement [11]) in activities of everyday life is considered a vital part of every child's development [12,13].

Still, research concerning girls and young women with RTT and their participation and engagement in activities of everyday life is sparse. A couple of studies have investigated factors related to participation in community activities. They found that aside from level of functioning (including communication and mobility), age, mother’s educational level, parents’ time and energy, siblings living at home and community support were significant factors for the girls' and young women’s participation in social activities in the community [2,14]. Another study found that bathing/swimming, being outdoors/walking, listening to music, watching TV/DVD/films, and being with family and friends were the activities that were enjoyed the most by girls and women with RTT over time [15].

The family is an essential part of every child's life and the everyday life of the family is hence a central framework in offering the girls and young women with RTT natural opportunities for participation [16–18]. Family members are therefore essential when facilitating the development of a child with special needs [17]. Moreover, interventions that affect the family may, indirectly, affect the child [16], which is why any intervention should be family-centered [19]. Accordingly, it is important to gain insight into factors that influence girls and young women with RTT’s participation and engagement in family activities, i.e., “activities taking place in the family, something that the family does together in everyday life when two or more family members take part” [20]. In a Swedish study, involving children and young people under the age of 21 with profound intellectual and multiple disabilities (PIMD), researchers found only weak associations between the frequency of occurrence of family activities and motor ability, cognition, general health, behavior, family income and the educational level of the parents [21]. Moreover, a weak to moderate correlation was found between cognition as well as age in relation to child engagement [11]. So far, no studies specifically concerning participation and engagement in family activities involving girls and young women with RTT have been published.

For professionals within habilitation, RTT is a particularly challenging condition due to both the severity and complexity of motor and cognitive impairments and the presence of comorbidities. Two studies on girls and young women with RTT reported that the vast majority needed massive support from family and paid assistants to be able to participate in community activities, and hence the girls and young women spend most of their time at home [2,14]. Therefore, girls and young women with RTT have better opportunities for participation if activities take place at home. Establishing the significant factors influencing girls and young women with RTT’s participation and engagement in family activities will enable parents and therapists to promote participation herein. Therefore, the aim of this study was to describe the frequency of participation and engagement in family activities and to explore factors that may impact on participation and engagement in family activities among girls and young women with RTT.

Materials and methods

Design and participants

A descriptive cross-sectional study was performed using the Child Participation in Family Activities questionnaire (Child-PFA) [21]. At the time of the present study, 109 persons diagnosed with RTT lived in Denmark. Parents of all girls and young women under the age of 21 with RTT living at home were invited to participate (n = 42).

Measures

Background information

In order to describe the study sample, parents were asked to fill in the following background information; age of their child, family composition (two biological parents, one biological parent, one biological parent and one stepmother/father), number of siblings living at home, parental employment (full-time, part-time, job seeking, student, other), educational level (lower secondary school, higher secondary school, vocational education and training, graduate education), and family income. Type of gene variant was extracted from the Danish Center for Rett syndrome database.

Instrumentation

The child participation in family activities (Child-PFA)

Data regarding the prevalence of family activities and the girls’ and young women’s participation and engagement were collected through the Child-PFA questionnaire. This questionnaire, developed by Axelsson and Wilder, has been validated for children and young people with PIMD from zero to 20 years of age [21]. As the diagnosis of RTT falls within the criteria for PIMD, it is appropriate to investigate participation and engagement in family activities among girls and young women with RTT by using the Child-PFA.

Child-PFA contains 56 questions concerning six different groups of family activities: Indoor activities, Meals, Routines (for example doing morning routines, picking up after playing), Outdoor activities, Outings, Organized activities (for example going to the child’s, sibling’s or parent’s leisure activity together), and Vacation and holiday cottage. Questions concerning frequency of family activities and the child’s degree of participation are answered as; never/hardly ever, monthly, weekly, daily. Child’s degree of engagement is answered as; not at all, a little, somewhat, much. Questions concerning Organized activities cover the preceding three months, and questions concerning Vacation and holiday cottage cover the preceding year. Data are analysed for each activity alone [21].

Child-PFA is relatively new and has recently been translated from Swedish to Danish by an authorized translation company. A group of therapists and doctors from the Danish Center for Rett syndrome has adjusted for technical terminology and a bilingual Dane/Swede has corrected the language. As Swedish and Danish languages are very similar, no further validation in terms of language has been done.

Clinical Severity Score (CSS)

The CSS is a 13-item rating scale and describes early development and current clinical characteristics based on age of onset of regression, somatic growth, head growth, motor/independent sitting, ambulation, hand use, scoliosis, language, nonverbal communication, respiratory dysfunction, autonomic symptoms, onset of stereotypies, and epilepsy/seizures. Higher scores indicate an overall greater severity. The CSS is administered by observation and interview of caregivers. Changes in the CSS can be monitored through interview of caregivers [1].

Hoffer Ambulation Scale (HAS)

The HAS is used to categorize ambulatory status into five levels as proposed by Vogel et al.; I: Community ambulator (walks indoors and outdoors for most activities with or without support/walking aid. A wheelchair for long trips might be needed), II: Household ambulator (walks indoors for most activities with or without support/walking aid. Uses wheelchair for some indoor activities and for all community activities), III: Therapeutic ambulator (walks in therapy sessions or with parents at home, school or day center with moderate to maximal support), IV: Non-ambulant/standing (requires wheelchair for all daily mobility needs but is able to stand with or without support or in a standing wheelchair or standing frame), V: Non-ambulant/non-standing (requires a wheelchair for all mobility needs). The HAS is administered through interview or observation [22].

Level of hand function

The Level of hand function was used to categorize females with RTT’s purposeful hand function in eight levels as; (1) no observed hand function, (2) able to hold at least one large object >2 s, (3) assistance to grasp but able to pick up and hold at least one large object >2 s, (4) able to grasp, pick up, and hold at least one large object >2 s, (5) able to grasp, pick up, and hold at least one large object >2 s AND use a raking grasp to grasp, pick up and hold a small object >2 s, (6) able to grasp, pick up, and hold at least one large object >2 s AND use the radial side of the hand to grasp, pick up, and hold a small object >2 s, (7) skills for level 6 AND able to transfer an object from one hand to the other. Accurate pre-shaping of the hand is NOT seen, (8) skills for level 7 AND, when hand is approaching an object, hand orientation and size recognition closely approximates the position and size of the object. The Level of hand function is administered through interview or observation [23].

Exposure variables

Based on previously published literature the following variables were chosen to be included in the data analyses: Age [2,11], number of siblings living at home [14], HAS [2,14,21], and CSS [21]. In addition, Level of hand function was also chosen, as hand function is of great importance for participation in many of the activities in the Child-PFA.

Procedures

Child-PFA, background information questions, information about the project and a pre-paid envelope were sent to the families by mail. The mother, father or another adult living with the girl/young woman was asked to complete the questionnaire. Reminders were sent twice by email and once by telephone. Completed questionnaires were returned to the Danish Center for Rett syndrome. For participating families, CSS, HAS, and Level of hand function was assessed during a telephone interview by the research physical therapist (>10 years of experience and specialist in pediatric physical therapy) at the Danish Center for Rett syndrome. All data were collected during November 2015 to February 2016.

Ethics

The parents were asked to sign a consent form, which was returned along with Child-PFA. The consent involved participation in the project and in a phone interview in order to fill in the HAS, CSS and Level of hand function. Consequently, answers were not anonymous. When all data were collected and combined, the data were anonymized for the remaining part of the analyses. This study is part of a larger study approved by the Danish Data Protection Agency (30-1344).

Data analysis

Descriptive statistical methods were employed to describe the study sample. Categorical scale data were reported as numbers and percentages and ordinal scale data as median and range. Frequency of occurrence of family activities as well as the girls' and young women’s participation and engagement were calculated from the ordinal scales and reported as numbers and percentages. In order to apply Fishers Exact test and cross-tables to calculate the odds ratio for exploring possible impacts of the factors on participation and engagement in family activities, all exposures and outcome variables were dichotomized. Age was dichotomized in to <13 and ≥13 years, as previous studies have found that children with disabilities participate less in leisure and community activities when they enter adolescence [2,24–26]. Number of siblings living at home was dichotomized in to ≤1 and ≥2. HAS was dichotomized in to I–II = “functional ambulators” and III–V = “non-functional ambulators”. CSS was dichotomized in to ≤24 points and >24 points based on a median value of 24.5 [27]. Level of hand function was dichotomized into level 1 = “No observed hand function” and levels 2–8 = “Observed hand function”. Answers regarding participation were dichotomized in to “never/hardly ever and monthly = limited/rare participation” and “weekly and daily = frequent degree of participation”. Answers regarding engagement were dichotomized in to “not at all and a little = low degree of engagement” and “somewhat and much = high degree of engagement”. Statistical significance was defined as p < 0.05 [28]. Data analyses were performed using STATA 14.

Results

Participants

A total of 23 families with girls and young women with RTT aged 3.4–19.8 years returned the survey, giving a response-rate of 59%. Table 1 shows the characteristics of the participating girls and young women. The girls and young women had eight different types of gene variants. They covered all five levels of HAS and all eight Levels of hand function with 50% (n = 11) in level 1 – no observed hand function. The CSS score ranged from 10 to 38, with a median of 24.5. Table 2 shows the characteristics of the participating families.

Table 1. Characteristics of the girls and young women (n = 23).

Variables	n (%)
Answering questionnaires
Mother	19 (82.6)
Father	4 (17.4)
Age^a
<13 years, n = 14	7.5 (3.4–12.5)
≥13 years, n = 9	17.0 (15.4 − 19.8)
Type of gene variant
C-terminal	5 (21.7)
Large deletion	4 (17.4)
p.Arg106Trp	1 (4.4)
p.Arg168*	3 (13.0)
p.Arg270*	1 (4.4)
p.Arg294*	1 (4.4)
p.Thr158Met	4 (17.4)
Other	4 (17.4)
HAS^b
Community ambulator	11 (50.0)
Household ambulator	2 (9.1)
Therapeutic ambulator	2 (9.1)
Nonambulant/standing	4 (18.2)
Nonambulant/non-standing	3 (13.6)
CSS^a^,b
≤24 points, n = 11	20 (10–24)
>24 points, n = 11	28 (25–38)
Level of hand function^a^,b	1.5 (1–8)
No observed hand function, n = 11	1.0 (1)
Observed hand function, n = 11	5.0 (2–8)

^amedian (range); ^bn = 22.

Table 2. Family characteristics (n = 23).

Variables	n (%)
Answering questionnaires
Mother	19 (82.6)
Father	4 (17.4)
Mother and stepfather	2 (8.7)
Number of siblings living at home
0	1 (4.4)
1	10 (43.5)
2	9 (39.1)
3	2 (8.7)
4	0 (0)
5	1 (4.4)
Total annual income (USD)^a^,b
<22.199	1 (4.8)
22.200 − 44.399	0 (0)
44.400 − 73.999	4 (19.1)
74.000 − 118.399	10 (47.6)
>118.400	6 (28.6)
Education, mother
Lower secondary school (≤9th grade)	0 (0)
Higher secondary school (10th–12th grade)	2 (8.7)
Vocational education and training	6 (26.1)
Graduate education (academic degree)	15 (65.2)
Education, father/stepfather^a
Lower secondary school (≤9th grade)	1 (4.8)
Higher secondary school (10th–12th grade)	0 (0)
Vocational education and training	10 (47.6)
Graduate education (academic degree)	10 (47.6)
Employment, mother
Full-time	6 (26.1)
Part-time	11 (47.8)
Job seeking	1 (4.4)
Student	2 (8.7)
Economic compensation	3 (13.0)
Employment, father/stepfather^a
Full-time	19 (90.5)
Part-time	0 (0)
Job seeking	0 (0)
Student	0 (0)
Economic compensation	2 (9.5)

^an = 21; ^bconverted from DDK 2019-11-22.

Frequency of occurrence of family activities and participation and engagement herein

Frequency proportions in percentages of occurrence, participation and engagement are presented in Figures 1–3. The highest number of family activities with high degree of frequency of occurrence, participation and engagement was seen within the category Indoor activities and concerned the activities; “Watching a movie”, “Watching TV”, “Joking and fooling around”, “Playing with you or other adult”, “Singing” and “Listening to music”. “Playing with pets” divided the group in two, showing a high degree of participation and engagement within the families having a pet. “Surfing the internet” showed a high degree of occurrence as a family activity, but low degree of participation and engagement among the girls and young women with RTT. “Playing board games”, “Doing handicraft” and “Playing instruments” all showed a low frequency of occurrence and low participation and engagement. Answers regarding Meals, Routines and Outdoor activities showed that the more active activities such as “Being together in the kitchen”, “Cooking/baking”, “Doing the dishes”, “Laying the table/clearing away”, “Cleaning the house”, “Packing school bag”, “Picking up after playing” and “Shopping for groceries” all had a relatively high frequency of occurrence but low degree of participation and engagement. Social and restful activities such as “Having tea or coffee together”, “Having breakfast together”, “Having dinner together” and “Laying down for a rest” all showed a high degree of occurrence, participation and engagement. “Doing morning routines” and “Doing evening routines” both showed a very high degree of occurrence and participation, but moderate to low engagement. The Outdoor activities “Playing outside with other children”, “Playing outside with you or other adult”, “Going on a swing” and “Bicycling” showed a low degree of occurrence and participation despite a high degree of engagement. “Going for a walk” occurred weekly or daily with a high degree of participation and engagement. Answers regarding Organized activities all showed a low degree of occurrence, participation and engagement except “Going together to child’s leisure activity”. Social activities as “Visiting friends who have children”, “Visiting friends who do not have children” and “Visiting relatives” all showed a moderate to high degree of occurrence and high degree of participation and engagement in the category Outings. “Going shopping” and “Going out in nature” both showed high degree of occurrence and participation, and moderate to high engagement. A large part of the families had not been on vacation and/or visited a holiday cottage within the last year, but for those who had, there was a high degree of participation and engagement. For further information, see Supplementary Appendix A.

Figure 1. Frequency of occurrence of family activities (n = 23). *n = 22; **n = 21.

Figure 2. Frequency of participation in family activities (n = 23). *n = 22; **n = 21.

Figure 3. Frequency of engagement in family activities (n = 23). *n = 22; **n = 21.

Factors impacting on participation and engagement in family activities

One negative significant impact was found between participation in the family activity “Watching a movie” and number of siblings living at home (OR = 0.1 [95% CI 0.0 − 0.9], p = 0.024), whereas no significant impact was found between number of siblings living at home and engagement in family activities. Positive significant impacts were found between engagement in the family activities “Being together in the kitchen” and age (OR = 13.8 [95% CI – not enough data to calculate], p = 0.046), “Doing evening routines” and age (OR = 14.0 [95% CI 1.1 − 707.6], p = 0.028) and “Going shopping” and age (OR = 24.0 [95% CI 1.6 − 1179.0], p = 0.008), whereas no significant impacts were found between age and participation in family activities. No significant impacts were found between HAS, CSS, Level of hand function and participation and/or engagement in any of the 56 family activities. For further information, see Supplementary Appendices B1, B2, C1, and C2.

Discussion

This is the first study to describe participation and engagement among girls and young women with RTT living at home with their parents. The results from this study provide a detailed picture of which family activities occurred in the participating families, and the girls’ and young women’s degree of participation and engagement therein. Furthermore, it was found that higher number of siblings living at home had a negative impact on participation in watching a movie, while higher age had a positive impact on engagement in being together in the kitchen, evening routines and shopping.

The highest number of family activities with high degrees of frequency of occurrence, participation and engagement was seen within the category Indoor activities whereas Outdoor activities showed a low degree of occurrence and participation despite a high degree of engagement. This is perhaps due to the fact that the Outdoor activities often require considerable help and involvement from the parents, requiring a surplus energy the parents do not have because of the girls’ and young women’s major need of assistance in almost all activities of everyday life [3,7]. Consistent with the current findings, Sernheim et al. found that being outdoors/walking was a highly enjoyed activity among girls and women with RTT [15]. Thus, it may be relevant for therapists working with these families to focus on assistive devices or other compensatory strategies enabling outdoor activities.

The more active activities e.g., “Cooking/baking” and “Doing the dishes” had a high frequency of occurrence in the families but low participation and engagement for the girls and young women. This can be attributed to the severity of the girls’ and young women’s physical disabilities and limited hand function. As girls and young women with RTT are very good at communicating using their eyes [29], higher participation and engagement could be achieved e.g., by using eye-tracking technology. This would make it possible for the girls and young women to determine the order of the sequences in such activities. The social and stationary activities also occurred frequently, but here the girls and young women had a high degree of participation and engagement despite their communication difficulties. Similar results were also found in three other studies. Thus, “Being with family and friends”, “Listening to music” and “Watching TV/DVD/films” were highly enjoyed activities among girls and women with RTT [15], and the activities “Playing with a person indoor”, “Having dinner together”, “Visiting relatives” and “Listening to music” were frequently occurring with a high degree of participation and engagement among children and youth with PIMD [11,21,30]. Still, “Playing board games”, “Doing handicraft” and “Playing instruments” all showed a low frequency of occurrence and low participation and engagement among the girls and young women with RTT. This could be explained by the fact that these activities require a certain amount of hand function. Fifty percent of the participating girls and young women had no observed hand function, and the remaining had limited hand function. Still, a relationship between Level of hand function and participation and engagement was not found in this study, although a trend was seen towards better odds for participation for girls and young women with observed hand function. This might be explained by the fact that the Level of hand function was very similar in the group of participating girls and young women with RTT. Thus, the use of switch-operated and adapted dice boxes, crayon holders and musical instruments could possibly help the girls and women to participate and engage further in these kind of activities.

A low engagement was found in the family activities “Doing morning routines” and “Doing evening routines.” These activities also often require a certain amount of hand function. Low engagement and enjoyment in routine activities have also been found in previous studies [11,15]. Participation in activities with meaning and purpose is a vital part of every child's development [12,13]. Whether the person finds the activity meaningful or not, can be interpreted by the degree of engagement [31]. As these routine activities occur on a daily basis, they would provide opportunity for development of new skills, if the girls and young women were engaged in them. However, the activities need to be adapted using for instance eye-tracking technology or switches.

The family activities “Going shopping” and “Going out in nature” both showed a high degree of occurrence and participation, and moderate to high engagement. These activities have the potential to be modified to require more social and mental participation and less hand involvement, making it easier for the girls and young women to participate and engage in them. For example, “Going shopping” or “Going out in nature” can have a focus on experiencing different types of sensory input e.g., sound, tactile, visual or vestibular input rather than taking part in the activity by using their hands. These activities contain “Being in motion”, “Receiving impressions” and “Having contact” as was found to be the three main categories for activities enjoyed by girls and women with RTT [15]. This modification can be applied to many of the other family activities. Thereby, it is possible to promote the girls’ and young women’s participation and strengthen their role in the family, which is important for their identity, psychosocial well-being, and purpose and structure in everyday life [32].

No impact of age was found on participation. This was despite the fact that the occurrence of impairments and co-morbidities, such as scoliosis and epilepsy increase with age at the same time as help becomes more physically demanding for the families. These factors are likely to reduce participation with age [2]. In contrast, in the present study, age was found to significantly impact on engagement in three family activities (“Being together in the kitchen”, “Doing evening routines” and “Going shopping”), showing better odds of engagement for girls and young women ≥13 years old. Similarly, Axelsson et al. found a significant difference in engagement depending on age, showing higher engagement for children and youth aged 11–20 years in five of the 56 family activities [11]. Thus, engagement potentially increases with age.

A negative impact was found between participation and number of siblings living at home, showing lower odds of participation in the family activity “Watching a movie” for girls and young women with ≥2 siblings living at home. In a study by Walker et al. a positive relationship was found between presence of siblings and community participation of young women with RTT [14]. Thus, the presence of siblings seems to influence participation, but whether the number of siblings has a positive or negative impact needs further investigation.

Several previous studies found a positive relationship between better functional mobility and participation in family or community activities [2,14,21]. This relationship was not found in this study, although a trend was seen towards better odds of participation for girls and young women who were functional ambulators. Also, Axelsson and Wilder found that children with PIMD with less disease severity had a higher degree of participation in the more active family activities [21]. A similar impact was not found in this study. An explanation for not finding similar results may be the fact that the girls and young women often participated at a social level not influenced by HAS or CSS.

Strengths and limitations

The descriptive cross-sectional design of the study was a limitation, as it does not provide the opportunity to investigate causal relationships. One strength of this study was the use of Child-PFA, which is validated for children and youth with PIMD, including girls and young women with RTT. This provided an opportunity to compare study results to those of a similar study involving children and youth with PIMD. Child-PFA provided a detailed picture of which family activities the participating girls and young women with RTT participated in and were engaged in. As data were calculated for each activity as a single score, missing data only affected the particular activity and not the overall result. Still, the length of Child-PFA may have discouraged families from participating, which may pose a risk of selection bias. Thus, one family declined to participate as they felt that the Child-PFA was too time-consuming. Moreover, they did not like to be confronted with all the activities they could not do with their daughter without the opportunity to explain why. Three families declined to participate as they found the Child-PFA too difficult to answer and were missing some response categories. As seen in Table 2, the majority of the participating parents belong to the high-education and high-income group, which may indicate selection bias [33]. Several studies have found an association between educational level of parents, socio-economic status and child participation in activities, which indicates higher participation the higher the level of education and the higher the socioeconomic status [34].

Several factors may have led to information bias. For example, participation and engagement was not defined for the parents in the questionnaire, as it was considered everyday language [20]. Thus, it is not possible to know precisely how the parents interpreted these concepts. Some might have answered in terms of social participation, others mental participation, physical participation or a mixture. Because of the severity of communication difficulties of the girls and young women with RTT, the parents are acting as proxies when answering the Child-PFA. This method should ideally be supplemented by other information such as physiological measures like heart rate and skin temperature when identifying the emotions of people with PIMD as observation alone provides a limited picture [35]. Child-PFA does not have an overall score resulting in many small analyses with few respondents. Hence, the risk of type II errors occur and some hypotheses might have been falsely rejected [36]. Due to the small sample size, both exposures and outcome variables were dichotomized resulting in information being lost regarding the impact from different response categories [33]. The small sample size also meant that many of the family activities did not have enough data for analyses. Thus, it is not possible to know whether the factors have an impact on participation and engagement in those particular activities. Furthermore, the self-reported data may lead to inaccurate re-call and response of the parents [33]. This also affects the validity of Child-PFA.

Due to the extent of disabilities in girls and young women with RTT, most existing measurements and questionnaires are not applicable. At present there are no other Danish questionnaires concerning children and youth’s participation and engagement in family activities, hence Child-PFA was used despite its weaknesses. If Child-PFA should be adapted specifically for girls and young women with RTT, activities requiring a certain amount of hand function could be excluded or modified. The In addition, the parents could be asked which response categories they missed. Dividing the Child-PFA into different age groups could be a way to shorten down the questionnaire as some of the questions mostly apply to young or older children such as playing in the sandpit, playing board games and packing school bag. However, the girls and young women with RTT are at such different cognitive and clinical severity levels that it will be difficult to make a division that suits everyone. This may result in important data not being collected.

Despite these limitations, this study contributes to knowledge about girls and young women with RTT’s participation and engagement in family activities.

Conclusion

Girls and young women with RTT living at home with their parents showed the highest degree of participation and engagement in social and stationary family activities compared to the more active family activities and those that required a certain amount of hand function. Indoor activities showed a high degree of frequency of occurrence, participation and engagement and Outdoor activities showed a low degree of occurrence and participation despite a high degree of engagement. Significant impacts were found in a few activities between participation and number of siblings living at home, and engagement and age.

The study shows that therapists working with this target group may benefit from focusing on engagement in routine activities in the goal planning process and intervention, as they occur on a daily basis, giving the opportunity for development of new skills. Furthermore, focus may be on assistive devices or other compensatory strategies for outdoor activities and activities that require a certain amount of hand function, as well as modifying the family activities to require less hand involvement. This will enable the girls and young women to participate and engage in more family activities and strengthen their role in the family, which is important for their identity, psychosocial well-being, and purpose and structure in everyday life.

Acknowledgement

The authors wish to thank all participating families. Also, we wish to thank Assistant Professor Sören Möller, OPEN, Department of Clinical Research, University of Southern Denmark, for guidance on statistical analyses and Post Doc Derek Curtis, RUBRIC (Research Unit on Brain Injury Rehabilitation), Department of Neurorehabilitation, TBI Unit, Copenhagen University Hospital, Rigshospitalet, Denmark, for reviewing the manuscript. The study was made in collaboration with the Danish Center for Rett syndrome.

Disclosure statement

No potential conflict of interest was reported by the author(s).