Esophageal Atresia as a Family Disease – Effects of EA on the Infant, on the Family System and on the Mental Health of Parents

Abstract

The diagnosis of esophageal atresia (EA) in a newborn presents a significant medical and psychosocial burden for the entire family system. This article addresses the reactions of affected infants, the psychological impact on parents–with a special focus on the risk of post-traumatic stress disorders–as well as potential consequences for siblings and parental relationships. Additionally, practical recommendations are provided for pediatricians regarding the early recognition of family distress and suitable intervention options. The article emphasizes persistent neonatal stress–resulting from repeated medical interventions, separation from parents and EA-typical symptoms like shortness of breath, swallowing difficulties, reflux problems, and oral aversion–can be associated with impaired central nervous stress processing. Such early stressors can manifest in elevated cortisol levels, sleep disturbances and regulatory problems and can negatively influence the childʼs social and neurological development in the long term. The findings underline the need for holistic care that includes psychosocial aspects of the family in addition to medical care.

Keywords

rare congenital disease - oesophageal atresia/esophageal atresia - psychosocial impact - attachment and relationship - family-centered psychosocial care

Neurological and Developmental Psychological Implications

Maturation of the central nervous system

Chronic pain, interruptions of sleep cycles, and stress caused by medical interventions can impair neurological maturation [1], [2], [3]. This particularly affects:

• Regulation of alertness and affect

• Sensory integration

• Development of socio-emotional responses

Risk for regulatory disorders

Infants with EA more frequently present with:

• Persistent crying

• Sleep disturbances

• Impaired self-regulation

These are described as “regulatory disorders” in infancy and are closely associated with early medical stress.

Attachment and relationship aspects

The illness affects not only the infantʼs physiological development but also their social environment:

• Limited interaction with parents due to separation after birth and the presence of medical devices.

• Negative oral experiences (e.g., from suctioning, (feeding) tubes,) lead to aversions towards oral stimulation.

• Delayed relationship-building can have long-term consequences on emotional development.

A disrupted development of the “body-self” and the initial self-environment boundaries has been described in neonates receiving intensive medical care [4].

Immediate medical intervention after birth often results in physical separation between mother and child. The absence of direct skin-to-skin contact and delayed first breastfeeding make it difficult to establish an emotional bond [5]. Early attachment is characterized by non-verbal communication, physical contact, and intuitive parental responses to infant signals. For infants with EA, these interactions are often complicated by medical equipment, hospitalization, and the infantʼs physical condition. Parents often experience uncertainty in caring for their child, particularly during feeding or care. This can lead to feelings of alienation [6].

Supportive interventions through parent-centered care

• An interdisciplinary team (nurses, psychologists, social workers) can provide early support to parents and address their emotional needs. Involving parents in caregiving and medical decisions promotes a sense of control and strengthens attachment.

• Early psychological support for families.

• Psychoeducational programs and low-threshold psychological support reduce the risk of developing depression and foster parental resilience.

• Promoting closeness despite the hospital routines.

• Measures such as “kangaroo care” (skin-to-skin contact in the intensive care unit), rooming-in, and targeted support of parent-child interaction can help strengthen the bond despite technical barriers [7].

Long-term consequences and course

Even after a successful operation, many infants face long-term issues that can affect their development:

• Dysphagia (swallowing disorders), reflux, feeding problems

• Growth delays

• Frequent infections (especially of the respiratory tract)

• Sensory integration problems

These factors, in turn, affect play, learning, and exploratory behavior in infancy and may contribute to developmental delays.

Psychological Impact on Parents

The diagnosis of EA is usually made immediately after birth and leads to acute psychological distress for parents. Feelings of shock, fear, helplessness, and grief over “lost normality” are common.

Research has found that 20 – 30% of parents of critically ill newborns develop symptoms of PTSD [6], [8]. Risk factors include fear for the childʼs life, loss of control in the medical setting, separations immediately after birth, and insufficient social support. Mothers are particularly often affected. The diagnosis of a rare, chronic illness like EA, along with the necessity of prolonged medical treatment, represent a significant emotional burden for caregivers.

The diagnosis of a congenital malformation in the child is perceived as traumatic by 88% of mothers and 83% of fathers [9]. Compared to parents of healthy children, parents of children with rare diseases report reduced quality of life, increased stress symptoms, loneliness, and post-traumatic stress disorders [10], [11], [12]. A French study found that 59% of parents of children with EA experience PTSD symptoms, regardless of the medical severity of the childʼs illness and their long-term health prognosis [13].

In order to allow for a more nuanced consideration of the diagnosis of post-traumatic stress disorder and to refined the definition of the term “traumatization”, which in our view is often used in an inflationary way, the diagnostic criteria are summarized in this chart.

To enable a nuanced consideration of the diagnosis of post-traumatic stress disorder and to sharpen the definition of the term “traumatization”, which in our view is often used in an inflationary way, the diagnostic criteria are summarized in this chart below.

Psychological Impact on the Affected Child

From the very beginning, the development of a child with EA is influenced by pain, hospital stays, and attachment insecurities. More than half of mothers of children with EA reported that their infants had experienced a medically induced trauma and that they observed PTSD symptoms in their infants, including distress when reminded of the trauma, difficulty falling asleep, and the emergence of new fears [15]. Additionally, it has been described that children with EA employ various illness-specific coping strategies [16]. It became evident that children with EA use a wide range of positive coping strategies to overcome health-related challenges.

The preschool and school years may be associated with an increased need for care and a continued higher incidence of infections, placing the affected child in a special role. Young children born with an EA experience a significant symptom burden. In particular, respiratory problems (e. g., frequent infections, coughing, and breathing difficulties/dyspnea) can lead to severe stress symptoms even in children aged 0,5 to 7 years [17]. School and preschool absenteeism can be seen as indicators of the burden experienced by both the EA child and the family. Due to absenteeism and limitations in performance, EA children often experience more stress, which can restrict their participation in social activities.

Impact on the Rest of the Family

Once the sick child returns home, the complex influence of the disease on the entire family becomes clear. Especially in the initial stages, feelings of being overwhelmed and fearful can lead to withdrawal from the social network and a reduction in social participation. Many affected families report isolation and a withdrawal from social life, which they attribute to the limitations associated with the illness and the lack of resources to maintain and build social connections [18], [19]. The tendency to withdraw is further reinforced by societal prejudices and the burden of illness, which makes it seem easier for many to limit their lives to the domestic sphere [19].

Social participation is also further reduced by the childʼs limited and more complicated eating situation, along with associated emotions such as fear and frustration.

Due to the special needs of the EA child, witnessed emergency situations, the increased care and nursing time for the EA child, and the withdrawal from the social network, potential siblings are also burdened. Siblings may feel neglected and react with separation anxiety, general anxiety, or feelings of guilt.

The coupleʼs relationship is often significantly strained due to different coping strategies in dealing with the situation, exhaustion, and the lack of time for the partnership. Studies have shown that mothers and fathers often use different forms of stress management: mothers tend to engage in intense emotional processing, whereas fathers act in a more functional-pragmatic way [20]. This discrepancy can lead to misunderstandings, communication difficulties, and emotional distance within the coupleʼs relationship.

Grandparents and other close caregivers are also affected. Financial and organizational challenges can further increase the familyʼs burden.

Caring for a child with EA can consume substantial time and financial resources:

• Reduction or loss of working hours for one parent

• Travel burdens to specialized centers

• Costs for accommodation, meals, and medical supplies

• Bureaucratic hurdles in applying for benefits (e.g., nursing care level, assistive devices, rehabilitation)

Coping with the demands of daily life for a child who requires special healthcare support can be associated with an increased risk of social isolation and restricted participation in community life [18], [19].

Family Dynamics in the Context of an Acute Childhood Illness

From the perspective of systemic family psychology, every family is a dynamic system in which changes to one element affect the entire system. The serious illness of an infant, such as EA, causes an acute restructuring of family roles, division of tasks, and emotional bonds [21].

This can lead to shifts in responsibilities–for example, siblings may develop feelings of guilt regarding the familyʼs “exceptional situation” and, as a result, develop their own symptoms or react by becoming “parentified”, taking on parental functions and feeling responsible for caring for the parents or younger siblings.

In the best-case scenario, the family initially responds “dynamically”, meaning it activates resources in response to the illness of one member. In this way, the system does not experience itself as deficient and disadvantaged, but also develops special survival strategies that strengthen cohesion and a sense of self-efficacy. This is only reliably possible if there are sufficient external contacts and networks that were already effective and helpful for the family before the childʼs illness.

The classical systemic paradigm always refers to the circularity of systems (meaning that “things” do not exist in isolation but are in relation to one another). A does not act unilaterally on B; rather, B also acts on A (reciprocal interaction). Therefore, despite all the strain on the family, we assume that the system is fundamentally capable of “reinventing” itself and finding an adequate response to the challenging situation. In our work with families, we see that it is consistently possible to create space for the special needs of sick children and to establish a supportive, emotionally nurturing family atmosphere. To put it in the words of the individual psychologist Alfred Adler: it is not the burdens or traumas experienced that matter, but the response we find to them: “Itʼs not about what one is born with, but about what one makes of it” [22].

Nevertheless, the diagnosis of EA can repeatedly push families to the limits of their resilience. As mentioned earlier, the familyʼs network plays a major role in coping adequately with these stress factors. Since pediatricians usually play an important role in supporting families in connection with illness, we would like to conclude with a focus on how pediatricians can recognize relevant stress factors and which interventions are recommended.

How Can Pediatricians Recognize Family Distress?

Observable warning signs in the child

• Failure to thrive, which can manifest as insufficient weight gain despite adequate medical care, may indicate stressful feeding situations or psychosocial stress.

• Swallowing refusal, oral aversions, and excessively frequent vomiting or panic during feeding can be an expression of strained parent-child interactions.

• Delayed development, especially in social or emotional domains, can indicate a lack of interaction or stimulation.

• Regulatory disorders such as excessive crying, sleep disturbances, or hyperactivity are signs of insufficient fulfillment of the infantʼs basic needs for attachment, orientation, and control [23].

Notable parental behaviors

• Overly anxious or avoidant behavior toward the child

• Ambivalence: strong fluctuations between overprotectiveness and withdrawal

• Marked exhaustion or depressive symptoms (e.g., crying, lack of drive, irritability)

• Inappropriate feelings of guilt (“I did something wrong”)

• Marital conflict or inconsistent statements by mother and father regarding the home situation

• Missed medical appointments/therapy discontinuations, can indicate being overwhelmed

Family risk factors identified in conversation

• Low social support (e.g., no extended family network)

• Financial strain due to work loss, hospital stays

• Stressed siblings (school problems, withdrawal, jealousy)

• Lack of knowledge or feeling overwhelmed with home care (e. g., feeding tubes, reflux management)

What Can Pediatricians Advise and Offer to Families?

Establish a trustful communication

• Active listening and validation: Take parentsʼ concerns seriously (“That sounds very stressful for you.”)

• Psychoeducation: Provide age-appropriate explanations about illness, prognosis, and care to reduce uncertainty

• Normalize emotions: Explain that feelings such as fear, exhaustion, and being overwhelmed are common

Arrange for early psychosocial support

• Referral to psychosocial counseling (e.g., hospital social services, SPZ, parenting support services)

• Early intervention and developmental support for the child when risks are present

• Parent–child interaction counseling for attachment difficulties or problematic behaviors

• Psychological support for post-traumatic stress, depression, or relationship conflicts

• Self-help groups (e.g., KEKS e. V. – Self-Help Organization for Children and Adults with Esophageal Atresia)

• Recommendation to seek additional support from the local youth welfare office

• Referral for specific psychological/psychiatric assessment

• Recommendation/referral for occupational therapy and psychotherapy

Strengthen Family Self-Efficacy

• Actively involve parents in decisions and care processes

• Strengthen “parental competence” by acknowledging small successes

• Establish routines and positive rituals in daily life

• Develop relief strategies (e.g., home care assistance, household help, childcare)

Donʼt Forget Siblings

• Provide information about counseling services for siblings

• Recommend age-appropriate inclusion (“The baby is sick, but you are just as important.”)

Conclusion

When caring for children with EA, pediatricians should also pay close attention to the familyʼs overall situation. Notable changes in parent–child interaction, emotional exhaustion of parents, or developmental problems in the child are serious warning signs. Early networking with psychosocial resources, clear communication, and strengthening parental competence are key measures for supporting these families.

Conflict of Interest

The authors declare that they have no conflict of interest.

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Publication History

Article published online:
10 October 2025