The CTNNB1 syndrome is a rare genetic disorder. Due to the lack of research, less than 500 people in the world are currently diagnosed with it, including one in Slovenia. In infants with CTNNB1 syndrome, cognitive, motor, and speech delay, altered muscle tone, microcephaly, and vision problems are most commonly observed. For mothers, the infant period is stressful by itself, which can further deepen the child’s delay in development. A diagnosis of special needs in a child can affect the mother's emotions, partner relationship, and relationships with loved ones. Mothers of children diagnosed with the CTNNB1 syndrome deal with the diagnosis differently, with different intensity, and in different time frames. On their path of acceptance, they may face feelings of sadness, denial, anger, and fear. During this time, the support of their partner, family, and social workers is of key importance.
The master's thesis aims to find how mothers deal with the CTNNB1 syndrome diagnosis in the first year of the child's age, which is why we included in our research a mother whose child was diagnosed with the disorder as an infant. Special and rehabilitation pedagogues meet infants with CTNNB1 syndrome as part of early treatment, which is crucial for the child's progress. It is also important to actively include the whole family, as good insight into the characteristics and functioning of the child’s family can positively affect the quality of the child’s treatment.
We used a descriptive method and a causal non-experimental method of pedagogical research. We conducted a qualitative case study with a non-random sample of one mother of a child diagnosed with CTNNB1 syndrome as an infant. The used instrumentation is a structured interview, and the questions are linked to three thematic groups related to the mother's coping process. The first thematic group refers to experiences connected to the observation of a child’s delay in development; the second thematic group refers to the mother’s feelings experienced upon receiving the diagnosis; and the third thematic group refers to the change in those feelings over time after obtaining more information and receiving support from the environment.
Our research shows that the mother’s approach to the infant’s delay in development was relaxed before the pediatrician's first examination. It took them nine months to receive the diagnosis, which was given to them calmly, compassionately, and encouragingly over the phone. Immediately after receiving the diagnosis, the mother felt relieved, while also not experiencing too much concern regarding the boy’s future. She faced her first major shock a psychologist’s warning about the seriousness of her child's delay. The mother was shocked and in denial. She felt angry at everything that the boy's CTNNB1 syndrome made impossible. She removed his therapeutic devices from the room and mourned the relaxed and spontaneous life with the child, which was made difficult due to his diagnosis. Her view of the child’s progress, therapeutic aids, and developmental delay eventually changed. Her partner, family, professionals, and the experiences of other parents of children with CTNNB1 syndrome provided the most support.
The case study does not represent a basis for generalizing the obtained data, but the results may prove useful for mothers of children diagnosed with CTNNB1 and professionals who will work with families of such children.
The obtained results served as a starting point for creating guidelines to help mothers of children with CTNNB1 syndrome who are in the initial stages of dealing with the diagnosis.
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