Children and adolescents with VACTERL association: health-related quality of life and psychological well-being in children and adolescents and their parents

VACTERL association is a chronic condition of congenital malformations that coexist in a single patient. The acronym stands for vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula (TE), renal anomalies (R) and limb abnormalities (L). At least three of these conditions need to be present for a VACTERL diagnosis [1]. The diagnosis is rare with birth prevalence estimated to be 6.25/100,000 in Europe [2]. Multiple surgeries are often required during childhood [1] and various physical sequelae may follow, such as scoliosis, bowel dysfunction, gastro-oesophageal reflux, dysphagia, airway morbidity, decreased cardiac, renal or limb function [1, 3, 4]. Chronic conditions seem to have a negative impact on psychosocial health, academic functioning and social competence in children [5‐8]. Psychosocial well-being might be reduced in children with chronic conditions as they often experience repeated stays in hospital, painful medical treatment, disrupted school attendance, and limitations on social and physical activities [9]. Furthermore, health-related quality of life (HRQoL) including “physical, emotional, mental, social and behavioural components of well-being and function” [10] might be affected. Contradictory HRQoL outcomes have been described in children and adolescents with mostly single malformations [11‐19]. Similarly, negative psychological impact has been reported in children, adolescents and young adults with congenital malformations [20‐26], while other studies did not find corresponding results [27, 28]. Negative associations between anxiety and depression and HRQoL have been reported in adolescents with congenital heart disease (CHD) [29].

Parents of children with gastrointestinal, urological, neurological [30] and cardiac [31, 32] malformations may experience various psychological impacts, such as psychological distress [30], anxiety [30‐32], depressive symptoms [31‐33] and traumatic stress [30, 32, 34].

All things considered, present knowledge is scarce about HRQoL and the psychological well-being in children with VACTERL association as well as in their parents. However, such knowledge is needed in order to provide awareness of how, and to what extent, children, adolescents and their parents are affected by VACTERL association in daily life and need extra support. The study aim was to investigate the HRQoL, self-reported anxiety, depression and self-concept in children and adolescents with VACTERL association and self-reported anxiety and depression in their parents.

The questionnaires were returned by 40 children or adolescents, 38 mothers and 33 fathers. Out of the children and adolescents, 39 were diagnosed with VACTERL association and one child with VACTERL with hydrocephalus (VACTERL-H). Patient characteristics and parents’ reports on complications and physical symptoms during the last year completed for 24 children and adolescents are presented in Table 1.

In this Swedish multicentre study including children and adolescents aged 8–17 years with VACTERL association, the HRQoL was basically comparable to the European reference sample with chronic conditions [10], while significantly higher scores were found in the subscales of independence and inner strength [10]. The psychological well-being was similar to the norm group of Swedish school children and more favourable than in a clinical sample. The parents’ self-reports of anxiety and depression were comparable to non-clinical samples.

In the DCGM-37, the children and adolescents in our study group scored higher in the mental domain and similarly in the social and physical domains compared to the European reference sample. The highest scores (M = 86.8) were found in the subscale of equality which was originally called social exclusion, where low scores indicate feelings of being stigmatised and left out. Malformations such as limb deficiency [46], cardiac [47] or bowel dysfunction [48] could affect social functioning [49] and psychosocial HRQoL [13]. Hence, high scores suggest that the children and adolescents in our study group to a large extent did not perceive themselves as being excluded due to their health conditions.

The favourable results of the children and adolescents in our study group could be explained by the congenital nature of the health conditions. Children born with a condition may integrate their differences as part of their self-identity resulting in easier adjustment [50] and HRQoL similar to healthy controls [51] and better than in those with an acquired disease [52].

In the parents’ reports on the children’s HRQoL, scores were comparable to those of parents in the European sample of children with various chronic conditions [10]. The ICC values of VACTERL children’s HRQoL showed fair to excellent agreement between children and mothers and fair to good agreement between children and fathers. Note however, that the 95% confidence intervals were quite wide and ranged from poor to excellent. Trends have been reported suggesting that parents of children with health conditions underestimate, while parents of healthy children overestimate their child’s HRQoL [53]. On the other hand, there are previous conflicting reports regarding parents of children with various chronic conditions scoring their child’s HRQoL both lower [36, 54] and higher [55] than the children do themselves [56]. There might be other factors besides the health status of the child, affecting the agreement in reporting of HRQoL between parents and children with chronic conditions. Parent’s own HRQoL [57], distress [57] or worries [58] for the child might influence their perception of the HRQoL of the child. Furthermore, variation has been found in subscales with closer agreement between parents and children in the physical domains compared to emotional and social functioning domains [51, 57].

In the present study, no significant differences were found between mothers’ and fathers’ ratings of the children’s HRQoL, while similar ratings in previous studies have reported differences between parents [59]. Closer agreement has been found between fathers’ and children’s reporting than between mothers’ and children’s, which could be partially explained by cultural factors, overprotection by mothers and fathers’ increased involvement in the child [55]. Conversely, other studies have reported larger differences between fathers’ and children’s scoring than between mothers’ and children’s [57]. The mothers might more often than the fathers take closer care of the child both in their treatment of the health condition and in the daily care, which could contribute to closer proxy reports of mothers [57]. In our small study sample these differences might not be detected. An alternative explanation might be that both parents were actively involved in the treatment and care.

The psychological well-being measured by BYI was comparable to the norm group of Swedish school children with respect to anxiety, depression and self-concept [38] and enhanced compared with the clinical sample [38]. These findings are in line with Athanasakos el al. who did not find increased anxiety or depression compared to controls in children, adolescents and young adults with ARM, in which half of the group had a VACTERL diagnosis [27]. In spite of these results, previous predominantly small studies have reported higher levels of depression in children with CHD than in healthy controls [22] and self-reported depression in approximately one in four children and adolescents with ARM [24, 25]. Therefore it is important to keep the risk of reduced psychological well-being in mind and observe and detect children and adolescents in need of extra support.

Significantly higher scores in DCGM-37 and BYI-S were found in children and adolescents with vertebral defects compared to those without, while significantly lower scores in social inclusion, equality and BYI-S were found in children and adolescents with cardiac defects. The VACTERL condition is, by definition, heterogeneous, and since all study participants had a combination of different malformations, it is not possible to explain why specific malformations would have more or less impact on HRQoL and psychological well-being. The findings may be related to the characteristics of our sample, but as a study of children with VACTERL association, the results are of importance for future investigations. Additionally, ARM is a major malformation which could be expected to influence HRQoL and psychological well-being [13, 24, 25, 49]. Our small study sample may explain that such effects were observed in the multivariable analysis without being significant.

In the multivariable analysis of covariance significant association was found between the number of procedures in anaesthesia up to 8 years and self-reported social inclusion. In line with these findings decreased HRQoL with increasing number of surgeries was reported in children with CHD [17]. An explanation might be that more absence from social contexts such as school and friends [60], may entail a perception of reduced social inclusion. Furthermore, a significant association was found between mothers’ BAI and the children’s and adolescents’ reported physical ability. Hypothetically, these findings could be related to more physical limitations of the child evoking higher anxiety in the mothers. On the contrary, Skreden et al. [30] did not find any association between the child’s health and daily function and state anxiety and psychological distress in parents of children born with malformations [30]. Lower employment—financial—and educational status may instead be stronger predictors of the parents’ negative psychological outcomes [30, 31].

The parents’ reported scores of anxiety in our study were comparable to Finnish [41], US [42] and Spanish [43] non-clinical samples and regarding depression the scores were comparable to a non-clinical Norwegian sample [40]. Even though we did not find any significant differences in the results of BAI between mothers and fathers, nine out of 34 (26%) mothers’ scores were classified as moderate or severe anxiety and 3/30 (10%) among fathers. Corresponding classifications for depression were 6/34 (18%) of scorings of mothers and 2/29 (7%) of fathers. Among parents of children with chronic health conditions, 16% reported fulfilled criteria for anxiety disorder [61] and 21% for depressive disorder [62]. When comparing parents of children with congenital anomalies with parents of healthy children, levels similar or exceeding norms of psychiatric outpatients were found of anxiety in 15% versus 7% and of depression in 18% versus 10% [31]. Similarly, clinically important psychological distress has been reported in 30% of parents of children with congenital anomalies versus 21% in parents of healthy children, clinically important state anxiety in 27% versus 14% [30], and moderate or severe depressive symptoms in 27% versus 14%, respectively [33]. Thus overall, parents of children with health conditions have reported higher levels of psychological symptoms than parents of healthy children. Furthermore, when comparing reports of mothers and reports of fathers of children with congenital anomalies, levels similar or exceeding norms of psychiatric outpatients have been reported of anxiety in 18% versus 11% and of depression in 21% versus 10% [31]. Similarly, clinically important psychological distress has been found in 36% of mothers versus 23% of fathers of children with congenital anomalies [30]. Also, more depressive symptoms have been demonstrated in mothers compared to fathers [33]. Moreover, in general Swedish samples, higher levels of depression and anxiety have been reported in women compared with men [63, 64]. The responsibility for care of children with a chronic condition may not be divided equally between the parents [31, 65] with mothers taking greater responsibility for the medical and daily care of the child, which may partially explain the results. Since some parents of children with complex health conditions might suffer from increased anxiety and depression it is important that those in need of support are detected by healthcare providers.

Although children and adolescents with VACTERL association reported HRQoL similar to those of European children with other chronic conditions, their psychological well-being was comparable to that of Swedish school children in general and significantly higher than a clinical sample. The parents’ self-reports of anxiety and depression were comparable to non-clinical samples. Nevertheless, since there were some individuals among both children and parents in need of attention and extra support the results call upon awareness to observe and detect reduced psychological well-being. The knowledge obtained from the study is valuable when counselling parents on the prognosis of children with VACTERL association.