CASE STUDY: THE ORMROD FAMILY PART 2

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 Table of Contents
Introduction......................................................................................................................................3

What?...............................................................................................................................................3

So what?...........................................................................................................................................3

Now what?.......................................................................................................................................4

Appendix..........................................................................................................................................4

Conclusion.......................................................................................................................................5

References........................................................................................................................................6
Introduction
People who suffer from the very rare genetic condition known as Kabuki syndrome may have
delays in their intellectual development, as well as delays in their social and even their physical
development. It is distinguished by a general lag in both the physical and mental development of
the affected individual, as well as by varying physical features and, in some cases, intellectual
disability. In the context of this reflection, Borton's (1970) model acts as a guide for our
examination of the possibility of developing a booklet that describes Kabuki syndrome. This
article is about the Kabuki syndrome.

What?
The conceptual framework that was presented by Borton in 1970 is a process that can be broken
down into three separate parts, which are as follows: recognising the issue, obtaining an
understanding of the problem, and suggesting a solution to the problem. In order to get started
with our conversation regarding the booklet that was handed out concerning the Kabuki disease,
we need to first define the issue (Adam et al., 2019). This will serve as the basis for our structure.
Changes in the MLL2 gene are the cause of the exceedingly rare disorder known as Kabuki
syndrome. This condition is passed down via families. It is largely distinguished by the presence
of both intellectual and physical difficulties, such as the presence of a wide set of physical
features, abnormally big hands and feet, and a delay in cognitive development. Testing on the
patient's genes and keeping a close eye on their clinical presentation are the two most important
aspects of the diagnostic procedure.

So what?
The subsequent step in Borton's paradigm is to have a knowledge of the issue that is currently
being considered. At this point in the procedure, we are going to discuss the social and cultural
aspects of understanding Kabuki syndrome. These aspects include the degrees of stigma, the
assistance that is available, the research that is available, and education (Khodaeian et al., 2021).
Kabuki syndrome has not been the subject of a significant amount of research as of yet, and the
bulk of the work that has been done on the condition has focused on its diagnosis and treatment.
As a direct consequence of this, there is a dearth of information that is readily available to people
who are coping with Kabuki syndrome as well as to those who are in their immediate area. In
addition, it is uncommon for educational resources to be designed with the goal of teaching
children who have Kabuki syndrome how to live with their condition (Di Candia et al., 2021).
There is a considerable shortage of services available to this group as a result of this gap. In
addition, there is still a stigma connected to Kabuki syndrome, which acts as a barrier to the
process of increasing acceptance and understanding of the illness among people who have not
been personally impacted by it. This is especially true among those who have not been exposed
to the syndrome in the past.

Now what?
The third step of Borton's technique consists of the process of advocating for a solution to the
problem. The construction of a booklet dedicated to the analysis of the Kabuki situation is the
solution to this specific scenario, as it is stated in the previous sentence. This brochure has to
contain information about the diagnosis, the symptoms (both physical and intellectual), the
research and therapy, the education, the degrees of support that are available, and the levels of
stigma (Di Candia et al., 2021). In addition, the major purpose of this leaflet should be to explain
Kabuki syndrome in a way that is straightforward and easy to understand. This may be achieved
via the use of visual aids, language that is easy to understand, and personal tales. This will help
in giving a better understanding of the condition and in minimising the stigma that is connected
with it.

Appendix
This leaflet is intended to assist patients and their families navigate the difficulties that might
arise while treating Kabuki Syndrome in a multidisciplinary fashion, which may include the
participation of a number of different professionals. Medical issues must be managed with close
coordination between parents and professionals (Adam et al., 2019). Muscle power, gait practise,
and equilibrium are all things that may benefit from physical therapy. Occupational therapy may
aid with fine and gross motor skills and goal setting, while speech and language therapy can help
with communication and language development. It's crucial for parents to be positive role
models, to acknowledge their child's efforts, and to be receptive to suggestions that may improve
their child's chances of success (Khodaeian et al., 2021). As such, it's important to get help from
healthcare professionals and organisations that focus on special-needs management. Despite the
rarity of Kabuki Syndrome, there is much that may be done to assist affected children have
happy, healthy, and productive lives. With this in mind, you and your kid may benefit greatly
from your knowledge of the illness, your cooperation with your child's healthcare team, and the
use of community services. In addition, I wanted the language I used in this leaflet to be clear
and explicit enough for parents to understand it, with the goal of encouraging both current and
prospective parents to get genetic checks before starting a family if they aren't already, and to
always get professional advice when unsure, to avoid the overwhelming and stressful challenges
of parenting a child with special needs.

Conclusion
In conclusion, utilising Borton's (1970) framework to reflect on the potential of making a leaflet
about understanding Kabuki syndrome highlights the importance of education and understanding
in enabling individuals with Kabuki syndrome to live as independently as possible. This can be
accomplished by educating others about the condition. This may be achieved by providing these
people with the resources essential for them to survive on their own. This booklet has the
potential to provide people who are affected by Kabuki syndrome with vital assistance and help
lessen the stigma that is associated with the disease. It does this by providing information and
resources that can be tailored to the particular requirements of the affected individual.
References
Adam, M.P., Banka, S., Bjornsson, H.T., Bodamer, O., Chudley, A.E., Harris, J., Kawame, H.,
Lanpher, B.C., Lindsley, A.W., Merla, G. and Miyake, N., 2019. Kabuki syndrome:
international consensus diagnostic criteria. Journal of medical genetics, 56(2), pp.89-95.
Di Candia, F., Fontana, P., Paglia, P., Falco, M., Rosano, C., Piscopo, C., Cappuccio, G., Siano,
M.A., De Brasi, D., Mandato, C. and De Maggio, I., 2021. Clinical heterogeneity of
Kabuki syndrome in a cohort of Italian patients and review of the literature. European
journal of pediatrics, pp.1-17.
Khodaeian, M., Jafarinia, E., Bitarafan, F., Shafeii, S., Almadani, N., Daneshmand, M.A. and
Garshasbi, M., 2021. Kabuki syndrome: identification of two novel variants in KMT2D
and KDM6A. Molecular Syndromology, 12(2), pp.118-126.
Shangguan, H., Su, C., Ouyang, Q., Cao, B., Wang, J., Gong, C. and Chen, R., 2019. Kabuki
syndrome: novel pathogenic variants, new phenotypes and review of literature. Orphanet
Journal of Rare Diseases, 14(1), pp.1-7.