Introduction

Bachmann-Bupp Syndrome (BABS) is a rare disorder characterised by alopecia, global developmental delay in the moderate to severe range, hypotonia, nonspecific dysmorphic features and behavioural abnormalities.¹

Please refer to this article if you would like to learn more about BABS: https://my.klarity.health/what-is-bachmann-bupp-syndrome/

Affected families can experience psychological impact with stress and anxiety. Coping strategies need to be set in place to deal with these emotions. The social implications on families include social isolation, which is detrimental to the mental health of the family, as it may feel as if they are separated from the rest of the community and may not be able to receive the support they need. 

Psychological impact on family members

Parents

Emotional stress and anxiety

When receiving a diagnosis, especially at such a young age for the child, the parents are usually overwhelmed. This could lead to shock, denial and grief, which can result in a strain between the parents. Fault blaming may start, as well as outlets to try and get rid of the stress and anxiety that comes with raising a child with BABS.

Coping mechanisms and mental health challenges

Outlets for parents can include the community around them. This can be through a BABS support group, a religious community or others. Counselling for couples and also individual therapy can help the parents process their emotions and address their future plans. Engaging in outside perspectives can help provide clarity on their problems. 

Impact on marital relationships

Other research from Hills et al., (2007), suggests that a higher stress level in parents due to an illness can result in a higher divorce rate. Not only does this negatively affect the parents, but can lead to poor relations between the parent and child who has BABS. This can be due to factors such as disagreements with treatments, financial strain, taking care of other children or family members, and working.²

Siblings

Emotional and psychological effects

Siblings - both younger and older, can feel the negative psychological effect. Not only is their sibling ill, but their parents' focus may be solely applied to the child with BABS. Even unconsciously, this can create feelings of confusion, envy but also sadness. While children are typically too young to understand what is happening, they can usually tell when something is wrong. As the parents are role models to their children, the siblings may treat their siblings the way their parents treat the child with BABS, resulting in a caregiver bond instead of a sibling bond.

Changes in sibling dynamics

The healthy sibling(s) develop a sense of maturity quicker than their peers. While this increase of maturity can sometimes lead to positive outcomes, for example, being more patient with their sibling who has BABS, it can also cause emotional strain. The healthy child taking on a more caregiving role can impact their own mental health and development negatively, for example, being withdrawn in social situations because they feel guilty they aren't helping out at home.

Feelings of neglect or responsibility

The child with BABS often takes the parents' attention. This can lead to poor relationships between the child with BABS and their siblings, as well as between the siblings and the parents.² This situation is no one's fault, and it is understandable how the feelings of neglect and disappointment can arise.

Extended family

Support roles and emotional burden

The extended family can help to support the child, parents and the siblings, for example, hospital trips, or picking the healthy siblings up from school, or lending an ear to the parents. However, this can lead to stress with the extended family as they have their own needs or even their own children to look after.

Understanding and acceptance of the condition

Some family members may not understand BABS, and the severity of it can be downplayed by parents. Especially if they are looking after a child with BABS, they may not be fully equipped with knowledge and/or materials to use, such as what to do if a seizure occurs, which medication should be taken and at what time, and so on. 

Social impact on families

Social isolation and stigma

Social isolation can occur due to perceived stigma, misunderstandings and a general lack of awareness about the BABS. Symptoms, such as seizures, can cause the patient to be embarrassed, leading to less social interaction and a decrease in self-esteem. This can lead to less social support, fewer friends and a higher chance of engaging in anti-social behaviour.² Misinformation and misconceptions of BABS can also lead to familial isolation. 

Changes in family roles and dynamics

Once the diagnosis occurs, parents would most likely need to adjust their work to accommodate the child suffering from BABS. This affects their career and can also affect the financial aspect of their jobs. If the family has children other than the affected child, the siblings may unintentionally take care of household tasks, or take care of their affected sibling. This caregiving role, while it increases their emotional maturity, can negatively impact social situations, such as not being available to interact with their peers due to looking after the household and/or their sibling(s). Due to the role adjustments that are made, the family will either become more resilient and deal well with the new change, or, the family may struggle to function and collapse with the pressure.

Social support systems

Friends, community, support groups, social services and resources are all important elements of external support that should be utilised. Support systems can allow families to receive emotional support, coping strategies, and social services through care and financial assistance, and provide information.

Impact on daily life and functioning

Financial strain

Costs of medical care and special needs

There are many costs associated with medical care, including therapy, caregiving and special equipment. Parents may also need to reduce their workload, which could decrease the amount of income they put towards their child. 

Case study

Bachmann et al., (2023) state how a patient at 10 months of age was suffering from feeding issues and non-congenital alopecia, two symptoms of BABS. Genetic testing was offered to the family to confirm what the diagnosis would be, but the family declined due to the cost and barriers relating to insurance coverage. This suggests how imperative that need for money was - right at the start of the birth.³

Education and development

Educational needs of the affected child

Due to the learning and developmental disabilities of the child with BABS, special schools would be better equipped to support the child. This includes the appropriate resources, such as having one-to-one sessions to ensure the affected child is able to get the support and attention they need. 

Support for siblings' education

When the affected child has healthy siblings, the siblings' education may be negatively impacted by parental support in the home, and the limited resources that they may receive.

Routine and lifestyle adjustments

Daily caregiving responsibilities

Caregivers are usually very heavily relied upon in families, taking care of symptoms and managing them, hygiene care, dealing with medication, and having the knowledge to deal with any problems in the future, such as any deterioration that may occur.⁴ 

Changes in family routines and activities

Disruptions in routine can occur with something as small as a normal morning, going to school and to work, where one parent may not go to work, or the siblings may have to walk to school instead of getting dropped off by car. On a larger, more social scale, the family may have to limit their activities due to the affected child having certain symptoms appear (such as seizures), which can lead to isolation and frustration.

Coping strategies and interventions

Psychological interventions

Counselling and therapy options

For families dealing with BABS, individual therapy can help parents and siblings manage their anxiety and other challenges. Family therapy can be helpful to address communication to work together in building healthier relationships in the family dynamic. 

Stress management techniques

Techniques to manage stress that can arise to cope with a child with BABS include relaxation exercises and support groups. This can help to reduce stress, and anxiety and enables those to approach future situations in a more level-headed and prepared way.

Social support networks

Support systems, groups and community programs

Support systems and groups can connect families together when dealing with BABS. This is useful since it provides both families with information, can listen and provide support to each other, and can rescue the feeling of isolation, since they can relate to the troubles they have been through. Community programs can boost self-esteem and confidence in dealing with BABS, by encouraging information and advice.²

Educational resources

Information and training for families

Families with those who have a child with BABS, need information and psychological and social support. A general doctor can supply information, but talking to a specialist, a psychologist/psychiatrist and/or a BABS specialist community worker can be more informative.² 

Advocacy and awareness efforts

By having local community workers who specialise or have worked with BABS families before, they can address the community to improve public understanding. They are able to provide specialist advice to people around those who have BABS and provide a clearer connection to the family and community and to the doctors.¹

Summary

Psychological impacts on families include stress, anxiety, relationship tension, feelings of neglect and responsibility. To deal with the emotional strain, coping strategies such as therapy and relaxation techniques should be used. Social impacts on families include social isolation, misunderstandings of what the disorder is, changes in the roles the family adopts, and an impact on family function and cohesion. An intervention to use with this would be using support networks to build support systems, such as support groups or community programs.