Kabuki syndrome causes psychomotor delays and physical consequences

Kabuki syndrome is a rare genetic disorder that affects approximately 1 in every 32,000 births, as confirmed by the Spanish Association of Relatives and People Affected by Kabuki Syndrome (Spanish Association of Relatives and People Affected by Kabuki Syndrome).AEFA-KABUKI). It was first described in 1981 by two Japanese doctors, who noted that the facial features of victims resembled traditional Kabuki theater makeup. People with this syndrome often have distinctive physical features, such as large almond-shaped eyes, arched eyebrows, and protruding ears. In addition, they usually have difficulties in psychomotor developmentstunted growth and may suffer from other related health problems that affect various body systems such as the heart, bones or immune system.

This syndrome is mainly caused by mutations in the KMT2D and KDM6A genes, which regulate gene expression. Although there is no cure, treatment is based on individualized intervention. ranging from physical therapy to speech and feeding support. Affected individuals often require ongoing medical and therapeutic care to develop their full abilities. OXALUD interview Laura, Ana’s motherwho suffers from this syndrome, explains to us that despite the problems her daughter faces, she strives to lead as independent a life as possible with all the appropriate support.

QUESTION: When was your daughter diagnosed with Kabuki syndrome and what was the process like?

REPLY.- Anya’s diagnosis was made relatively quickly for such a newly diagnosed syndrome. From the time he was born, we knew something was wrong, and during his first stay in the hospital’s neonatal intensive care unit on October 12, we were searching for a name for what was happening to him. Its very distinctive phenotype and the evolution of many values ​​narrowed the search to a few genetic variations until we found it. The process lasted only 15 months.

Question: What challenges did Ana face in terms of physical and cognitive development, and how did you overcome them?

A.- This is a choral process and affects many areas of their development, both physical and cognitive. From the very beginning we were very clear that in order to optimize his development we needed to increase his level of stimulation and work in all the areas that we felt were key. For this reason, Ana has worked, is working and will continue to work very intensively to stimulate all those areas that are weaker. The result, in our opinion, is amazing.

At seven years old, Ana understands that she has difficulties, but she is not afraid, but approaches it with great effort and dedication, she knows that she will achieve much of what she sets out to do, it will just take longer.

Q: How has hypotonia (low muscle tone) affected her daily life and activities?

A.- One of the conditions that needs to be addressed first is, without a doubt, low muscle tone. If the building structure is weak and not strong enough, it is very difficult to work on it. If, in addition, you have multiple eating disorders that make eating very difficult, it is very difficult to solve this problem. The first years were extremely difficult, because Ana’s receptions at any time of the day lasted for hours and reached only ridiculous values. Every ounce of weight he gained was a battle.

The situation is gradually improving and it makes everything a little better to be able to work on various aspects that were unthinkable many years ago. To have the cleft palate operated on, Anya had to weigh 8 kilograms. It takes us years to reach the weight, surgery leads to improvements, but they all happen gradually. We can’t miss a single one.

Q: What type of support or treatment has been most helpful in improving your daughter’s mobility and overall well-being?

A.- They all work. This is interdisciplinary and, above all, intense work. Physiotherapy, occupational therapy, etc. all provide an optimal framework for your development. Everything related to improving orofacial and myofunctional functions is necessary to provide your body with strength and energy. By improving swallowing, you can develop more efficient work.

Question: How did Ana’s speech and language develop and what resources or therapies did you use to support this aspect?

A.- Slow. Low muscle tone complicates the situation, and its hyper-reactivity, both intraorally and extraorally, means that treatment and improvement occur very gradually. Ana has every treatment available in the areas of speech therapy, occupational therapy and, above all, peer relations. The best stimulation and investment in your development is all the time you can spend with your children in a natural environment. Our goal is to give you the tools to make the most of your relationships with your peers.

Question: What changes or adaptations have you made at home or at school to make your child’s life easier?

A.- At home, when Ana was born and her development began, we began to better adapt to our new reality. We had to try to give him the best opportunities for development. In the school environment, we have been fortunate to find an educational center that understands difference as enrichment. In a mainstream setting, the school adapts to the exception to suit Ana’s needs so that she can reach her full potential. We work with a mixed approach and the results are simply amazing.

Question: Do you receive help or support?

A.- Ana receives 200 euros in assistance from social security, and the Kabuki Syndrome Association, through the Montemadrid Foundation, Caixabank and other private organizations, helps us with stimulation therapy, which is fundamental to her development. The Association gives us incredible help.

Question: What benefits does being a member of the Kabuki Syndrome Association give you? Do you think that associationism helps you cope with everyday difficulties?

A.- For us it was light in the middle of the cave. The main thing is not to feel alone when this type of event happens to you. It helps you understand what is happening to you and helps you realize that you are not alone in this world. Also to give an idea of ​​what happens in a case like Ana’s, such a recent discovery, and to share information so you know what you’re up against. Help for both Anya and us, her family, support for this association is absolutely fundamental.