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1 Inside This Issue Intelligence Profile See Page 3 Living with Kabuki Syndrome - an Update See Page 6 Kabuki Syndrome Genetic Research See Page 6 Winter 2002 Vol. 4, Issue 2 17V Kabuki journal Javier By Aida Fraga Javier's story was written in April by his mother Aida. Aida wrote the story (n both English and Spanish. We thank her for the extra effort. Unfortunately we were unable to publish the story right away so Aida provided us with an update in May Javier was diagnosed with Kabuki syndrome in He has short fingers, pseudo low set ears, big eyes and big ears. He has long eyelashes and arched eyebrows. We live in San Diego, California, USA. Javier was born at 38 weeks of gestation from a normal delivery with no complications on June 25, He was born with teeth. He had lots of mucus in his nose and mouth and would not stop sneezing. Initially he was sent to the newborn nursery and there he was noted to have a temperature of 94.8 and intermittent grunting. After the pediatric team evaluated him he was transfèrred to the Infant Special Care Unit where he was noted to have a num- See Javier Page 5 Javier By Aida Fraga La historia de Javier Jite escrita en cthnï del 2001, por su mamá Aida. Aida escribió la historia en Inglés y Espoftoi nosotros agradecemos a ella por su esfuerzo. Desafortunadamente no fue publicada la historia pronto. Aida nos puso al día en mago dei Javier fue diagnosticado con Kabuki Síndrome en Javier también incluye dedos cortos, oídos abajo de lo normal, ojos grandes, oídos grandes, cejas y pestañas muy pobladas. Nosotros vivimos en San Diego California en Estados Unidos. Javier nació a las 38 semanas de gestación de un parto normal y sin complicaciones en Junio 25 de Nació con dientes y tenia mucho moco en su boca y nariz y no paraba de destornudar. Inicialmerite Javier había sido enviado a los cuneros de los recién Nacidos y ahí se noto que tenia temperatura de 94.8 y su respiración era muy rápida. Después de que el eguipo de Pediatría lo evaluó fue transferido a la Unidad de Cuidados Especiales para Infantes donde se le noto que tenia numerosas anormalidades físicas incluyendo congénitas, microcefalia, un agujerito en 1. parte superior de el oído izquierdo un higado y bazo palpables. Subsecuentemente un ultrasonido de el corazón mostró un defecto airial septal; un ultrasonido de riñones mostró riñones bilaterales cisticos y unos rayos x de la espina mostró una vértebra de la mariposa en T 10. El tenia hyperbiirubinemia moderada fue resuelta con foto terapia. (bilirrubina alta). El tenia hypoglycemia. El no podía controlar su azúcar subía Véase Javier la Página 2

2 Page 2 Javier... de pagina i mucho y luego bajaba mucho. Lo dieron de alta de el Hospital a la edad de 2 semanas. El necesitaba tener seguimiento por varios Doctores en Cardiologia, Clinica dei Riñón, Neurología, Audiologia, Oftalmologia, Dismorfologia, su Pediatra y Clínica de Desarrollo. Sus cromosomas se enviaron y fueron normales. Alas 3 semanas de edad Javier empezó a tomar Bicitra para acidosis metabolica Crónica relacionada con su problema de riñôn el tomo este medicamento por 7 años. El ahora toma un antibiótico para la protección de su riñón. Durante estos años el a estado teniendo infecciones dei oído, infecciones de la vejiga (orina) y Meningitis solo el virus. Ei tuvo una cirugía en Agosto 2000 para corregir que sus ojos se cruzaran el esta bien ahora. EI tuvo problemas de alimentación por Defensa Táctil en boca y cuerpo un programa de cepillado si ayudo mucho el todavía tiene este problema táctil pero no están severo como cuando era un niño pequeño. El es muy selectivo con lo que el come. Todavía estoy tratando de introducirlo a nuevas comidas su peso esta bien y su estatura también. El si tuvo problemas de alimentación cuando era un bebe el necesito de mucho apoyo. Un ultrasonido practicado en Enero de 2001 mostró que su riñón no esta creciendo y los quistes están creciendo. El va ha tener problemas en el futuro y yo espero estar lista para esto. Javier esta en un Programa de Educación Especial en la Escuela el esta en 3r grado. El tiene Terapia Ocupacional, Terapia Física y Terapia dei Lenguaje y también Educación Física Adaptada desde que el tenia 2 años en el Plantel de la Escuela. El tiene una Maestra maravillosa. Tenemos un gran equipo de Doctores y otras personas que nos ayudan con la Educación de Javier y su salud, unas gracias muy especiales a Linda Lucas mi trabajadora social de el Centro Regional. El necesita Seguimientos con Dismorfologia, Clinica de Riñones, su Pediatra y Oftalmólogo todos los demás Doctores lo dieron de alta. Javier es un niño feliz el es muy sociable el tiene una hermanita de 3 años llamada Tania. El quiere mucho a Tania. Nosotros como padres apoyamos y tratamos de darle a Javier lo mejor de nosotros. Lo queremos mucho y damos gracias a Dios por damos la bendición de tener a Javier como nuestro hijo. Yo lo llamo luz de mis ojos. Mayo del 2002 En Noviembre de el 2001 Javier comenzó a tener dolor de estómago y lo llevamos de emergencia a el hospital ellos pensaron que era su corazón pero siguió teniendo los dolores de estómago y su pediatra dijo que era Reflujo y ella lo refirió con un Gastrointerologo y el tomo Prilosec por 5 meses el esta libre de dolor por ahora espero que no los tenga mas el tiene una cita de seguimiento. EI Dr. también me dijo que es posible que tenga un intestino torcido el no esta seguro. Gracias a Dios que asta ahora ha estado bien El esta muy bien en la escuela por que tiene una grandiosa maestra Mrs. Weisbach. El esta creciendo y comiendo mas comidas diferentes. Quiero dar gracias a mi famffia por su apoyo. Gracias mamiy papi. The Kabuki Journal is the newsletter of the Kabuki Syndrome Network. The purpose of this newsletter is to provide information and support to individuals with Kabuki Syndrome and their families. We will not knowingly print inaccurate or libelous material. We do not promote or recommend any treatment, therapy, institution or professional. Consult with your private physicians/professionals for information and advice regarding medical and therapeutic treatments. KSN Contacts Canada/U.S. I)ean & Margot Schmiedge 8060 Stnithers Crescent Regina, Saskatchewan Canada S4Y 1J3 Phone: (306) corn Web site: / -'kabuki/ Incoming Newsletter Editor Heather M. Johnson 2503 Winding Oak Drive Charlotte, NC Phone: Kabuki Syndrome Network, U.K. Kevin Sutcliffe, International Link 8 Enderby Close, Ovenden, Halifax HX3 5RR England Phone: Mobile phone: k. or kabuki-syndrome lineone. net Netwerk Kabuki Syndroorn (European Kabuki Syndrome Network) Farn. Verouwen Beukenlaan ALI3unde The Nethertarids Phone: Fax: martijn95tip,nl Web site: kabuki /syndroom.htrnl Information available in Dutch

3 Intelligence Page 3 profile of children with Kabuki By Frans Faase The behavioural study ger than their non-verbal The non-verbal intelligence done in the Netherlands and intelligence. was also tested by a variety of Belgium in the past years To get an impression of means: also studied the intelligence the verbal intelligence a num- Incomplete drawings. profile of the children in- ber of tests were performed. For example, they were volved. During the fifth These were: shown a drawing of a Kabuki day in the Nether- Knowledge questions. face without a nose. lands, Prof. H. van der Vlugt Questions like: who With this kind of test gave a presentation of this discovered America? they performed reasonstudy, which he did together The children did not ably well. with Mrs. K. Bernd sen. score high on this, Cartoons. They were To avoid a complicated probably also because asked to put a number discussion, he defined intelli- they did not get much of cartoons in the right gence. as that is what being education. order. With this they measured with intelligence Similarities. They were also scored reasonably test. Intelligence tests consist asked to explain the well. of certain tasks and assign- similarity between a Block patterns. They ments that the children have sweatshirt and a pair of were given a set of to perform. If you put the trousers. They scored blocks that were parresults of a lot of children in better with this. They tially coloured and a graph, then this graph will realized that these were asked to put them have a hill-like shape. The things you could put together such that the top of this shape is defined on, but often they did colour pattern matched as an Intelligence Quotient not present the abstract a given example pat- (IQ) of 100, and everything concept of clothes. tern. They did have between an IQ of 85 arid 115 Simple maths. With this great difficulties with is considered as a normal they were weaker on the this, especially with intelligence. A problems is average. asymmetric example that there is not so much Idiom. This is clearly patterns. They had the known about the children at one of their qualities. tendency to rotate these the bottom of the graph, Their knowledge of patterns so that they simply because there are not words and their mean- would look more symso many of them. He stated ing can be considered metric. that below an IQ of 40, it is as good compared to Jigsaw puzzles. This not possible to make any their average lq score. also posed great probmeaningful statement any- Insight questions. They lems. more about the intelligence scored well with these Codes. With this experilevel. especially if it con- ment they had to mark During the study, eleven cerned concrete situa- certain symbols in children were examined. tions. sequences of symbols. Their IQ ranged from below Repeating aloud num- They did not score too 40 to 72. Intelligence can be ber sequences. This is well, probably also divided into verbal and non- something that requires because of their low verbal. Verbal intelligence attention and concen- motor skills. has to do with speaking, tration. Something that Labyrinths. With this listening and language. Non- appeared to be difficult test some scored very verbal intelligence consists of for them well, others did not everything else, which in- Although the children are understand it at all, and cludes visual perception, stronger in the verbal range, it simply drew a straight abstract reasoning, and should be remarked that they line from the entrance comprehending logical rela- are rather weak with respect to to the exit. tionships. With eight of the the kind of language that is What is the cause of the eleven children their verbal often used in an educational clear difference in verbal and intelligence was clearly stron- setting. See Intelligence Page 4

4 Page 4 Intelligence... continued from page 3 follow each other rapidly. The when reaching adolescent degree of myelination in the because they fail to establish right hemisphere is stronger normal social contacts. Lucknon-verbal intelligence that is than the left. This explains ily, children with the Kabuki being observed? We know why, if the myelination process syndrome will not have these language abilities are found in is disturbed, the right hand kinds of problems because the left hemisphere, while the side suffers most. they are much less reflective. right hemisphere is more Also the difference be- They are simply not so visual oriented. We know that tween verbal and visual per- strongly aware of the fact that the right side of our brain is ception can be explained. their behaviour is looked on as good at recognizing faces, and When a child is born the a little strange by those that the left side is especially myelination of the auditory around them, and because of good at performing sequential nerves is already almost com- this they are probably not activities. During the develop- plete. A very young baby can restricted by worries about what ment of our brains new kind of already discern the direction others might think of them. tasks are often first performed from which noises come. The The hearing problems, by the right side of the brain, degree of myelination of the which some of the children but as soon as the brain has visual nerves is still very low, might have, probably do not mastered the tasks, when they and improves rather slow. affect the balance between have become automatic, they That is why children books verbal and non-verba! intellimigrate to the left side of the need to have big letters. A low gence score. The difference brain. degree of myelination also does become more apparent lt seems that with the explains the sensory integra- when the children grow older. children there is something tion issues and the low muscle According to Prof. van der wrong with the right side of tone, because these signals Vlugt no medical treatment for the brain. Furthermore, you need to travel a long way. A problems with myelination has also see problems with the distorted myelination is not yet been found, but if it were it visual and tactile perception. specific to the Kabuki syn- could also be used to treat All this could indicate that drome. It is also seen with a other demyelination diseases there is something wrong with number of other syndromes, such as Multiple Sclerosis. the myelination process in the as for example with Williams Prof. vari der Vugt himself is brain. Neuron cells have den- syndrome. not involved in any myelinadrites and axons. Through the With respect to children tion research. He is only an dendrites the cell body receives with the Kabuki syndrome the expert in the field of measuring signals. The axon conducts following advices can be given: intelligence of children with signals away from the cell Be verbal. Some chi!- mental handicaps. body. Some axons are wrapped dren have difficulties With respect to learning to in a myelin sheath formed recognizing facial ex- read, his suggestion is to start from the plasma membranes of pressions. as early as possible, because so-called Schwann cells. Myeli- Say things very clearly. they will need more time to nation is the process of the Some do not under- learn to read. Reading requires formation of myelin sheaths stand figurative expres- the association of sounds around the axons. This pro- sions. (verbal) with symbols (noncess already starts before the Give them time to pro- verbal). Quite often, a sudden birth and is greatly finished at cess. Give verbal expla- improvement is seen. about three years of age, but it nation of what is going It is important to realize continues until thirty years of to happen shortly before that non-verbal communicaage for certain parts of the they do. tion is often not understood. brain in the frontal lobes. If Do not over feed them This can also be one of the there are problems with this with too many stimuli. causes behind behaviour process, then there will not be Also in the Non-verbal problems. His most important enough myelin surrounding Learning Disorder (NLD) there advice with respect to educathe axons in the end. Because is a problem with non-verbal tion is that attention should be of this, the axons will not be intelligence. Children with a paid to both verbal and nonable to transport the signals as normal intelligence with which verbal intelligence, but that we well and as fast as they NLD is diagnosed are known to should aim at keeping it enjoyshould, especially if the signals encounter very grave problems able for them.

5 Javier... from page 1 ber of physical abnoi iiialities including microcephaly, a pit in the superior aspect of the left ear, arid palpable liver and spleen. Subsequently, a cardiac ultrasound showed an atrial septal defect, a renal ultrasound showed bilateral cystic kidneys and a spine x-ray showed butterfly vertebrae at TiO. He had moderate hyperbilirubinemia (high biirubine) resolved with phototherapy. He had hypoglycemia. He couldn't control his sugar: it would go high and then low. He was discharged at the age of 2 weeks. He needed to be followed by several doctors in Cardiology, Renal Clinic, Neurology, Audiology, Ophthalmology, Dysmorphology, primary care physician, and the Development Clinic. His chromosomes were sent and they were normal. At 3 weeks of age Javier began taking Bicitra for Chronic Metabolic Acidosis related to his renal problem. He took this medicine for 7 years. He is now on an antibiotic for his kidney protection. During these years he's been having ear infections, urine infections and the Meningitis virus. He had eye surgery in August 2000 for correction of eye crossing. He is doing fine now. He had eating problems because of tactile defensiveness. A brushing program did help a lot. He still has it a little but not as bad as when he was a little boy. He is very selective with what he eats. I'm working on getting him into new foods. His weight and height are fine even though when he was a baby he needed lots of support. An ultrasound done in January 2001 showed that his kidney is not growing and the cysts are growing. He will have problems ready for this. Javier is in a special education program and is in the third grade. He has had Occupational, Physical and Speech therapy and Adaptive Physical Education since he was 2. He has a wonderful teacher. We have a great team of doctors and other people that help us with Javier's education and health. A special thanks to Linda Lucas my social worker from Regional Center. He still has follow ups with Dysmorphology, Renal clinic, Ophthalmology and primary care physician. The rest of the doctors discharged him. Javier is a happy boy. He is very sociable. He has a 3-yearold sister named Tania and he loves her very much. We as parents support Javier and try to give Javier the best of us. We love him very much and thank God for giving us the blessing of having Javier as our son. I call him "light of my eyes". Letter from the Editor Dear Friends, Page 5 KSN member Heather Johnson will be our new Kabuki Journal editor beginning with the next issue. I am moving on to focus on other responsibilities. I want to thank all of the families and professionals who have contributed their time, effort and knowledge over the last few years. KSN has come a long way since Margot Schmiedge and I first discussed the possibility of a newsletter in Thank you Margot, for your inspiration, guidance and patience but most of all for your friendship. None of us would have ever connected if it hadn't been for your vision. Thank you mom and dad for putting so much of your hearts into the production of this newsletter and for continuing to work with Heather in getting the information out. You're the best grandparents a Kabuki Kid could have. And finally, best wishes to Heather. I know she will do a great job. She would appreciate your ideas and help with articles. May 2002 Update In November 2001, Javier started having stomachaches. We rushed him to the hospital. They thought it was his heart but he continued having stoniachaches. His pediatrician said it was Reflux and she referred him to a Gastroenterologist. He took Prilosec for 5 months. He is free of pain for now. I hope he You may contact her at: does not have them any more. He has a follow up appoint- Heather M. Johnson ment. The doctor also told me it 2503 Winding Oak Drive is possible that he has a twisted Charlotte, NC intestine but he is not sure. Phone: Thank God he is okay for now. He is doing great at school because he has a great teacher, Looking forward to the next Mrs. Weisbach. He is growing issue! and eating more different foods. I want to say thank you to my Dawn Rocco family for their support. Thank KSN member in the future and I hope I PDF compression, OCR, web will optimization be you mom using and a watermarked dad. evaluation copy of CVISION PDFCompressor

6 Page 6 Living with Kabuki Syndrome - an Update Since I last wrote a lot of things have happened, some for the good and some for the bad. As always life with Kabuki syndrome is like a great roller coaster and where it will end nobody knows. I had my left shoulder operated on when I was 18 years old and I was just about to start my second semester of the GNVQ Business Intermediate course. Due to some complications with the operation I had to do my second semester in September later that year. During the operation my heart had stopped and I was sent to see a cardiologist the Monday after my operation, which was on a F'riday. As well as being in considerable pain, which is quite normal following an operation, my family and I were nervous but lucky to find that my heart was OK. It was just my slight heart mummer playing up due to having a seizure. After a lot of pain and hard work by myself, my Physiotherapist, consultant and parents I was ready to go back to college to finish my course. I found it very enjoyable, rewarding and hard. I helped my new classmates with their work and also taught my carers* to use the computer. Through my hard work I was rewarded with the Best GNVQ Business intermediate student of the year award. I couldn't believe it. After I was always told I wouldn't amount to anything at school I was being presented with this award by the local MP (Member of Parliament) in front of my parents. friends and their families, By Karen Burbridge tutor's and the principle and the Mayor of Wakefield at that time. Last year I finished a new computer course called ECDL Computer licence (I can now drive a Computer ha ha!) I have just started an Advanced Level in Computers. It's one step down from a degree. As you can image, my mum dad and brother are really proud of me. It's a two-year course. The College wants me to do a teaching degree after this course. I have been having a lot of seizures, which aren't epileptic but are non-psychological and doctors don't know yet what is causing them and don't know how to treat them. The seizures have caused my left shoulder to dislocate, my left kneecap to dislocate and my eyes to be damaged. I now face the prospect of having another operation on my shoulder and a possibility of having to have surgery on my knee. The good news is I have an appointment provisionally made to see genetics to see if they can refer me to a neurologist for treatment of my seizures. In September I had an emergency dental appointment as I was in extreme pain with one of my teeth. I went and saw my dental surgeon and found that the right hand side and jaw have calcified. He said he thinks it's due to Kabuki Syndrome and that it would be a good idea to let everyone know so you can mention it to your dentists. My teeth will have to be removed soon and I will be given false teeth. As you know it's common in a lot of Kabuki kids not to have adult teeth and I'm no exception because I haven't either. I will also have to have my bottom right wisdom tooth removed because it's deformed. Even though all these things are happening I am still determined that in the future I will be able to drive and fulfil my ambition of being a Learning support assistant & continue trying to help others who care for and have Kabuki Syndrome. Until I can achieve & fulfil my ambition I am trying to continue at college and do a further computer course to improve my skills and prospects in getting a job. My door is always open to anyone. If I can help I will. *editor's note: Karen informed me that in England "carers" are what we would call a personal aide in the United States. Kabuki Syndrome Genetic Research Conti nues Researchers at The Children's Hospital of Philadelphia continue to be interested in identifying the genes that are involved in Kabuki syndrome. There is no cost to participate and all information is kept confidential. If you would like further information, please contact: Karen Russell, M.S. Genetic Counselor ;

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