TheKabuki Journal

Fall 2011

InsideMedicalArticles

Page 16-18

Gidgets andGadgetsPage 14

HomemadeBlended

FormulasPage 10-12

Meet Kathy Coonsby Helen Coons

Kathy graduated in 2004. She has been in special-eduntil she was 21. She can read at about the 3rd gradelevel. She knows how to get around on the bus reallywell.

Kathy wanted to be independent and live on her own.She has an apartment not too far from home. A caregiver(paid for by the government) comes over and helps herwith shopping, doctor appointments, and sometimeshelps her with housework. She doesn’t like me to help.

Kathy works at a shop for special-education adults from8:30 to 1:45 on Monday, Thursday and Friday. Shetakes the bus to work and uses her cell phone to wakeherself up.

She makes about $100 a week, gets social security and alittle bit of money from SRC, which is governmentfunded help. Her caregiver pays the bills with Kathy’shelp.

Kathy is 5’2” and 190 lbs. Because she was living alonefor a while without help (she doesn’t like to cook, use thestove or knives), she ate junk and gained weight. Shenow has diabetes. But she is starting to loose weight.She is using the microwave now.

Kathy comes home on the weekend for home-cookedmeals and goes to church with me. Wednesday afterwork she takes the bus and goes bowling. Thursday afterwork she takes the bus and goes to arts and crafts at theYMCA.

Her phone keeps me in touch with her and her with herfriends. She loves to talk and text. It helps her spellingand reading.

Kathy has a boyfriend. Nothing serious. Only a peck onthe lips. She had a tubal ligation when she was 19. Herboyfriend at the time did not want any brats around thehouse. So she O.K.'d for the operation to be done. Sheis her own guardian.

Even though she cannot read, she understandseverything and prints her own name kind of legible.Kathy has a computer at home. But, no Internet Sheloves to play games and listen to music. During thesummer she plays softball for Special Olympics.

Kathy doesn’t have any real health issues to stop herfrom doing anything. I get scared someone will takeadvantage of her. She is very trusting. She has a lot offriends. Her boyfriends are all special adults also.

Growth inKabuki

SyndromePage 15

Kathy Coons

One Family’sExperience with

Homemade FormulaPage 13

Looking toDonate?Page 9

OpenForum

Page 3-9

KSN FoundersDean & Margot Schmiedge8060 Struthers CrescentRegina, SaskatchewanS4Y 1J3CANADAPhone: 306-543-8715Email: margot@kabukisyndrome.comWeb: www.kabukisyndrome.com

Newsletter EditorDana Levinson11600 Meadow Lane WestMinnetonka, MN 55305Phone: (952)285-1399Email: Danalevinson77@yahoo.com

Newsletter PublisherSusan Tagliaferro85 West Valley Brook RoadCalifon, NJ 07830-3529Phone: 908-876-4999Email: suetag@comcast.net

Kabuki Syndrome of JapanToshinobu Ozeki255-8 HigashikitanoInuyama, Aichi 484-0868JAPANPhone: 81-568-67-7860Email: azusa8-5@fb3.so-net.ne.jpWeb:www003.upp.so-net.ne.jp/kabuki_j/

Assn. Syndrome de Kabuki (ASK)Catherine Mus14 rue Emile Zola59135 BellaingFRANCEEmail: asyndkabuki@neuf.frWeb: http://asyndkabuki.neuf.fr/

Supporting Aussie Kids withKabuki Syndrome (SAKKS)Peta Colton3 Harley Pl.Vista, South Australia 5091AUSTRALIAPhone: 08 82640209Email: petal@sakks.orgWeb: http://www.sakks.org/

Netwerk Kabuki Syndroom(European KSN)Fam. VergouwenBeukenlaan 246241 Al BundeTHE NETHERLANDSPhone: 043-3650207Fax: +32 43 3650207Email: fam.vergouwen@hetnet.nl

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A Word from the Editor

Dear Readers:

While our friends and loved ones with KabukiSyndrome are all at different stages of developmentand life,  the idea of transitioning from childhooddependence to adulthood independence is onethat all of us have to consider in some capacityWhether this stage is far in the future, recentor immediate, it can be a period of anxiety and manyquestions for all involved.  Therefore, we havedecided to devote a large portion of this issue to thetopic of transitioning.  Included are stories fromparents of young adults with Kabuki syndrome andsome of those young adults themselves.

Cathy Skerker and her husband Larry (parents of ayoung adult daughter, Liz, with Kabuki Syndrome)have also written an extremely helpful guide with tipsand advice for those going through the transitionprocess. “...How well our children are equipped tomeet the challenges of adult life depends largely onthe education they receive, the services available tothem, and the support of family, friends andcommunity.

Besides a solid educational foundation, parents andchildren need to plan for the day the children leavepublic education and enter the adult world. Planningfor this time needs to begin when our children reachhigh school. Because parents know their childrenbetter than anyone, their part in transition planning isextremely important....” For the complete article,written by Cathy and Larry Skerker go to our website at: www.kabukisyndrome.com. and click on“Transitioning to Adulthood”.

We hope you find this issue to be supportive anduseful in giving you ideas of steps to take or peopleto contact.

We wish you a happy holiday season and new year!

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Hi to all!

Before getting intotransition from school to“beyond school”, wethought we would giveyou a quick, runninghistory on our son.Spencer is 22 years oldand lives at home with us.He has fine motor & grossmotor delays, moderately-severe hearing loss andis introverted (like hisdad). He continues tomature & make progress and likes to be involvedaround others, although not necessarily in directconversation with them. He loves to text or emailthough! So development continues to marchforward!

The Orange Unified School District has an adulttransition program for kids that are out of high school,until age 22. So he has done that for the past threeyears. Some classroom, but primarily focused on lifeskills and mobility. Their mobility program isimpressive as Spencer can now take a bus anywherearound town, even into other cities, and make it backjust fine.

He is now attending “college”, which is sponsoredthrough the community college system with severalof his friends. Monday & Wednesday’s is a banking& finance class. While Friday’s is a basic cookingclass (6 hrs), where they plan out the meal, go shopfor it, come back & prepare it and then eat!

This is working best for him at this point in time, butwe really struggle with what work scenario will workbest for him longer term. We are concerned aboutwhere he will be safe (due to the hearing & responsedelays). We want him to feel important and fulfilled,

Spencer at age 8 yrs.

yet not overly tax him. So quite frankly, we are stillat a loss here! But we are early in this transitionand not worried about having to figure it all outtomorrow.

In summary, God has given us a very specialperson, who has required extraordinary amounts oftime, energy and TLC. But it has taught us to bethankful for every “normal” thing God gives us. It’staught us to treasure all the effort poured into him,yet makes us sad for the “normal” parents whodon’t value their kids. You have to invest!

Below, is a note composed by Spencer andunedited by us - thought you would enjoy seeinghow he composes (and hates punctuation!!).

Wishing you all well,Phil & Le Ann Herley

My name is Spencer im 22 years old I graduated from AdultTransition Program now I attendcollege 3days a week I take thecity bus to and from college I stillsee some of my friends fromTransition I like to watch tv, listento music, and go to some sportsevents like Football, Basketballand Baseball I enjoy spendingtime with my family I hope youlike hearing about me take care. Love, Spencer Herley

Spencer today

As many of you already know well first hand, raising achild with special needs has many, many facets. Ourdaughter, Emily, is now 22 years old and has blossomedinto a lovely, engaging and independent young woman.This young woman can navigate the bus and c-traintransit system better that anyone else in our householdand this awesome skill reaffirms for us that teaching herto be as independent as possible was worth all the worrythat came with it! She enjoys many friends and isconstantly seeking to balance her budget with the manyexpectations that come with friends, malls, boyfriendsand so on. Emily’s presence in the household hasbrought with it many interesting, joyful, worrisome,thought-provoking andlive-changingmoments for all of us.

An opportunity thathas allowed Emily todevelop friendshipsand independence isher participation inSpecial Olympics.This amazingorganization hasallowed Emily totravel to places such asQuebec City,Edmonton andparticipate in theSpecial OlympicWorld Games inShanghai, China.

Emily attended an extra year of high school in a WorkStudy program to gain a bit more time to learn somebasic life skills. She then attended a local college andwas part of a course entitled the Transitional VocationalProgram. This program allowed Emily to work with asupport worker and other teachers who taught life andwork skills, and sought out job placements for her. As aresult, Emily worked for a few years at a seniors’residence serving food and learning first hand the cultureof work “out there in the real world”.

Although Emily is currently seeking other employment(her choice), she has gained a sense of responsibility andwishes to move out on her own. Several of her friends

Emily Ross

by Lois and Mike Ross

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live with a “supportive room mate” and this is apossibility for Emily, as well. However, we are alsoconsidering investing in a condo or townhouse for ourdaughter, as she has many of the skills required to liveon her own. We believe that she would need andbenefit from a room mate in this situation as well, andknow that the right person will come along.

Although we obviously have not developed a firm planon how the transition will look in its entirety for Emilywhen she moves out on her own, I firmly believe thatshe will be as prepared as possible from all thepreparation and hard-work we all have put into herfuture!

Alan will be 24 in a few weeks.

Alan was in special education from preschool throughhigh school. After high school he was in a post-seniorprogram until he “aged-out” of the school systemwhen he turned 22. The post-senior program was verygood. The students were sent to various (unpaid) jobsat local businesses. For example, one job involvedsorting out cards of buttons, etc, that customers hadput in the wrong place ata fabric store. Anotherjob was cleaningreturned DVDs andrefiling them at anindependent video store.The post-senior programtaught the students to usepublic transportation andcoached them on cellphone use in case theygot lost.

Alan is now in anotherprogram. There is somejob training in thisprogram, also. These jobs seem mostly to involvecleaning. Alan also gets a few hours a week with an

by Paul and Martha Gregory

Alan Gregory

Continued on page 5

ILS (Independent Living Skills) instructor. The ILSinstructor covers things like money and budgeting,shopping for food, cooking, housecleaning, and hygiene.

We are hoping that Alan will get a job consistent withhis abilities. So far Alan has not been very receptive togetting a job, perhaps because he is afraid of therejection that is an unfortunate part of job hunting.

Alan talks about moving to a place of his own someday.At this point, though, I think that neither he nor we areready for that.

- 5 -Our Young ManContinued from page 4

by Amy Charland

I kept Matthew in school until he was 21 years old.    InAdams County, PA they had a program where Matthewworked for the last two years in the LIU12 building.    Itis the special education center for the county.    He andabout 11 other students maintained the janitorial servicesfor the building, as well as the small kitchen where lunchwas served to the staff.

When he was 18 years old, I filed for disability.    Hecontinues to receive disability today.    I am a singlemother and this has helped us tremendously with costs.He also receives medical assistance.    These were twopriorities when he was 18 and will continue until death.

After graduation we tried to find employment, but withthe economy the way it is, it is very difficult.Therefore, he works in a vocational shelter workshop.This workshop contracts with local businesses and hedoes an assortment of jobs.    For example, filling the"bubbles" with small toys - those are the items you getfrom the bubble gum machines.    He also packs hangers,pretzels, tiles, etc.    His favorite job is packing pretzelsfor the Snyder's company.    He loves doing that.    Jobsare assigned to the staff by abilities and speed.Matthew is the highest paid employee at the facility.He earns 5 star ratings in his employment ratings.    Heis an excellent employee.    We are currently looking foremployment outside with a job coach.    We are on awaiting list for one of the school cafeterias.    This wouldbe the best for him because of its hours and the

availability of transportation.    I work in the schoolsystem so it will be a benefit to the family as well.

Matthew is transported to and from work on the ACTAbus system.   It is a transportation program for thosewho are disabled.    It picks him up at the house andtakes him to and from work which is one town overfrom us.    He has to ride about 1-1.5 hours each way,but Matthew never complains.    He gets to talk to thebus driver and socialize.

He continues to participate in Special Olympics.Bowling is his favorite.    He also attends the Life SkillsOutings which are once a week each month where agroup of them to to dinner, bowling, bingo, etc.    Thisprovides Matthew with social situations without hismother.     He feels independent and loves doing it.

Matthew continues to live home for now.    He is only22 years old.   As he gets older (and I do), I willconsider group housing.    I have a 15 year olddaughter, so as long as I have her, Matthew will remainat home.    They are very close and watch out for eachother.

I continue to take care of Matthew's medical needs.They are minimum but I over see the bulk of hisneeds.   He does have a caseworker as well.    But sheknows that Mom is on top of things with Matthew.    Icontinue to cook for Matthew and do his laundry.   Iwash his hair and brush his teeth once a day.    I cut hismeat for him.    He still needs assistance in someareas.

Matthew Charland at his graduation

Michael is now 21, so he has had several transitions overthe last 2 or 3 years. Each transition has been a bit scaryat first (especially for his parents), but has worked outvery well.

The first big transition Michael had was leaving school.He loved school, because after being at the same schoolfor 5 years he new the staff well and he loved the routineof school. Michael has always enjoyed cooking andwanted to go on to study as a chef and he had done wellenough at school to enroll at AUT here in Auckland todo a pastry chef course. This was a one year course thatcould follow on to other catering courses.

The first bighurdle wasthat AUT isin the centralcity andMichaelwould needto catch abus to andfrom school.We wentover the bustimetableswith him andworked out which buses he needed to catch and whichbus stops to use.

Before the course started, Penny caught the bus into thecity with Michael to make sure he knew were to go. Wewere very nervous about Michael going into the city onhis own, but he managed fine and soon got used to it. Wedid occasionally have to pick him up when he had toomuch of his course work to bring home (usuallydelicious cakes or other things that he had baked, so wellworth the trip!).

The other hurdle was completing the course work. Mostweeks the class had a 3 hour assignment in the kitchenwhere they had 2 or 3 things to prepare. Michael wasmostly capable of doing the work, but was just too slowand needed a lot of help from the chef or other students.Having to rush the work and not being able to completeit was stressful for Michael and the chef found he wasspending too much time with Michael. Early on in the

course they suggested that Michael should change todoing the course as a "certificate of personal interest".This meant that Michael would do all the course workjust like the other students, but he didn't have to do thewritten assignments (unless he wanted to - which healways did), his work wasn't marked, and when they hadan assignment in the kitchen instead of trying to prepareall 2 or 3 things that they had been asked to cook,Michael would just do one. This worked wonderfullyand Michael was able to continue the course and heabsolutely loved it. Attached is a photo of Michael onthe final presentation day of the course with some of thebeautiful food that he and his classmates prepared.Each time Michael has had a big transition in his life ithas been a bit daunting, but we have found that withpatience, planning and plenty of help and understandingfrom the people involved Michael has been able toexceed our expectations.

by Charles Oram

We have been making transitions all of our lives startingwith the birth of our special needs babies to the medicalintervention that followed, initiation into the world ofeducation and finally the milestone that occurs at ages21 to 22, when our young adult exits from a controlledenvironment into the world of adulthood, where parentswill be directing the next steps.

Each family’s experience will be unique; ours wasespecially traumatic. Our lives determined that weneeded to make a move out of state right after Shea’sgraduation. At a time with many changes to make, weadded leaving friends, support groups, medical teamsand state resources. (Avoid if at all possible!!!) Wehave spent thelast yearrebuilding thisinvaluableinfrastructureas fast aspossible as Inow had avery bored,very vocalyoung adult onmy hands 24/7!Shea’s days arenow filled with volunteering 4 days a week at a

by Greg, Gail and Shea Arnold

Shea and Gail Arnold

Continued on page 7

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Michael Oram

child/senior daycare, using the Lift bus fortransportation, involvement in the YMCA, Young LifeCapernaum and a special needs cheer leading squad.She realizes these are only steps being taken to work outher long term life goals of paid employment and livingas independently as possible or as Shea clearly states,out of Mom and Dad’s house!

So what can we share with you from our journey?Some of the reflections will be familiar and hopefullysome will provide new ideas to consider.

1. Start to plan for this transition early. Use thoseIEP’s to direct your child’s experience to fit yourfamily’s goals. Shea’s goal was to find employment sowe did not spend time in a life skills classroom butworked out in the community getting job training andbuilding a resume.

2. Explore all of the resources offered, making note asto when your child will be eligible for services. Oneimportant service was a job assessment process and jobtraining through the Department of VocationalRehabilitation in the state of Washington. I believe allstates have a similar department.

3. Set life goals, long and short term, with your youngadult. They must be made to feel that the process isworking to fulfill their needs and desires. Listen to theirhopes and expectations and be open to how they mightbe achieved even when the word, “impossible”, seemsreal.

4. Attend a person-centered planning conference if oneis available in your area. It is so encouraging to focuson who your child is and what they are accomplishingrather than what they are not and cannot do. At the enda resume is written that emphasizes their unique giftsand skills. I use this resume when looking foremployment or volunteer positions in the community.

5. Prepare for a season of emotional upheaval. Thiswas our experience as Shea realizes she has KabukiSyndrome yet still has the same, but seeminglyimpossible to attain, dreams for her life that her peergroup and siblings are experiencing. Seek mental healthcare providers and/or medication when your young adultis struggling beyond your help.

Transitions - SheahContinued from page 6

At 2 weeks of age, before leaving the hospital, we were toldthat maybe Kristin wouldn’t walk…maybe she wouldn’ttalk….or maybe she would have learning problems in school.Oh, and “you need to follow up with a pediatricophthalmologist because we are concerned that she might beblind.”

Kristin was not blind as it turned out. She learned to walk.And talk. And last December she graduated from StevensonUniversity with “honors” and a bachelor’s degree in HumanServices. Since the topic is transitions, let me back up.

High school: Throughout all school years through 12th grade,my husband, Bob, and I tutored Kristin, checked her work,kept her organized. We wanted her to learn, of course, but ourgoal was also that she earn a high school diploma. With oursystem of constant oversight, she earned mostly A’s and B’s,so it was a natural plan for her to TRANSITION to the localcommunity college post high school.

Transition from high school to community college:Kristin needed updated testing in order to getaccommodations in college. In Maryland, the Department of

by Joelle Anzelc

Continued on page 8

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6. Remember that uncharted transitions will always be apart of our journey. If you are experiencing a particularlydifficult time, put your hope in knowing this season willend and days ahead will be different. We are in a betterplace than we were in Fall 2010 but have a long way to goto help Shea live the purposeful life she desires.

We hope this helps and send our support andencouragement to all family’s in their journeys ahead.

Shea and Gail Arnold

Rehabilitation Services (DORS) provides transitionservices. They arranged testing including a psychological,OT/PT, Career Assessment, and even a driving assessment.Then a transition plan was created that included herattending community college and recommendations foraccommodations. When Kristin first started at the college,I attended advising meetings with her to make sure herschedule was workable with mine (since I provided alltransportation) and that her accommodations wereappropriate. Kristin’s accommodations included things likeextra time on tests, copies of overheads, a note taker, andtutoring. At that point, Bob and I decided that we neededto back off and let Kristin become more independent in hereducation. Our idea was that she made it through highschool. If she was to succeed at the next level, it needed tobe on her own steam. If she couldn’t hack it, then wewould need to help her choose another goal. While she didstruggle with a few classes, she passed each one with atleast a “C”, earned B’s and even some A’s. She graduatedin 3 years with an Associate’s degree in business, thenstayed a 4th year, earning a certificate in “Office Systems”.We hoped she would develop skills to work in a smalloffice. But she had other ideas. She loved her law classes.And one day, she plopped into the car and informed methat it had been “instant decision” day for StevensonUniversity, a small private school in the area. CollegeRepresentatives were there and could put a student’sstatistics into their computer and could tell the student ifthey would be accepted or not. Guess what! Kristin gotherself accepted to the four-year school!!

All this time, I was still helping Kristin with her hair, fingerand toe nails, sometime even brushing her teeth, and such.She had door-to-door service everywhere sheneeded/wanted to go. And we continued all that as shetransitioned from the community college to StevensonUniversity.

Stevenson University: Kristin continued to live at homeand remained a commuter student. We continued to helpher with daily living skills, always trying to get her to bemore independent, but her weak areas – visual perceptualand motor – persisted and there were many things that westill did for her.

Finance: We got no help, financially. Maybe because shewas living at home and our income was too high. All Iknow is, we footed the bill. Kristin did earn some nicescholarships because she got herself on the Dean’s List andstayed there until graduation. Kristin applied for a fewpart-time jobs in the community and on campus, but never

was selected. The beauty of Stevenson for Kristin was that itwas a small school and required all students to do severalpracticums and a senior internship. They allowed Kristin todo those on campus since she does not drive.

How does she succeed in her classes? She reads, re-reads,then reads again. She works VERY hard. If she doesn’tunderstand something, she asks for help from her professors.Again, Bob and I did NOTHING to help in her coursework.We just provided her door-to-door transportation.

What to do after graduating from Stevenson? Then shewanted to go to graduate school. Bob and I told her wethought she needed to get a job, but she was insistent that sheNEEDED to get a master’s degree. It was our younger son’sturn for his undergraduate degree and that was our financialpriority. We told her we were not going to help her and shewould have to figure it out on her own. She did. She had setherself a goal to work at a college, helping kids “the way thatpeople helped (her)”. Kristin applied to 2 graduate programsand got 2 interviews. She got accepted to Indiana Universityof Pennsylvania’s Student Affairs in Higher Educationprogram. I had not evenGoogled the school until shegot accepted, because Ireally didn’t think shewould. What a surprise Ifound. This is a goodschool. She was interviewedand got accepted. She hadresearched it and knew that ithad on-campus housing forgraduate students (necessarysince Kristin doesn’t drive),an efficient shuttle systemfor the college and the localtown, and opportunities forassistantships that help withfinances.

Leaving home for the firsttime. (Indiana, PA is 4 ½hours from our home!) Once Kristin was accepted, we begana more intense effort to make her more “independent”. Allsummer we thought constantly about what she would needfor independent living. Hair styling and nail trimming…stillmajor issues. We finally found a hair style she can do o.k.Nails…forget it. She would have to get manicures. DORSdid refer us for testing again so that she can getaccommodations as before, and Kristin had a lengthy

Continued on page 9

Transitions - KristinContinued from page 7

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Kristin receiving her Certificateof Completion

consultation with an OT to help with ideas for dailyliving. Kristin is living in an efficiency apartment oncampus. She has a meal plan and goes to eat in a dininghall, but can do simple meals on her own, mostly in themicrowave. Bob and I moved her up there and arrangedher place, organized her kitchen and bathroom, hooked upher computer and T.V. We know that there is no way shecould have done any of that without us and we just didn’thave time to “help” her do it. I did tell her, though, thatthe next time she has to move, she has to pay us for ourlabor.J

She reports that she “loves it” and were it not for a neededdentist appointment, she would not be coming home untilThanksgiving. I am heading up to get her this weekend

and am very excited to see her. She has been my life’swork and I miss her. I am amazed at the journey.

We still are not getting any financial help, so we are in themiddle of a battle for government help. It is hard toexplain to people that a young woman who hasaccomplished so much still needs so much help. Bob andI do worry that if something happened to us, Kristinwould be at a loss. But we also knew that until she lefthome, we would never know if she COULD leave home.I call this our grand experiment. She is in a prettystructured place that has many of the things she needs.I’m not sure how she is doing in her program of work. Idon’t know if she will ever work full time. But then I wastold she might not walk…or talk…or might beblind….What I do know is that Kristin seems happy.

The Center for Human Genetics, Inc. at BostonUniversity School of Medicine is a non-profitorganization with a focus on research, teaching andpatient care, that could receive any tax deductibledonations regarding KS.

Over the many years, they have collected over 160 bloodsamples from individuals identified as having KS alongwith many of their parents. They have provided mutationanalysis of MLL2 (the major gene responsible for KS) formore than 100 of these individuals. Positive results havebeen written to the submitting physicians. They havedone much of their research and now clinical molecularwork for those research samples without any funding.

Donations would be much appreciated and would allowfurther testing of those MLL2 negative KS patients foradditional genes when identified. The Center for HumanGenetics offers a wide range of Genetic testing (seewebsite: www.bumc.bu.edu/hg), including clinicalmolecular testing for Kabuki syndrome.

Make checks payable to: Center for Human Genetics,Inc., TID# 043154223

Send donations to: Center for Human Genetics, Inc.,Boston University School of Medicine,c/o Jeff Milunsky, M.D., 700 Albany street, suite 408,Boston, MA. 02118.

Contact Information: Jeff Milunsky, M.D., (617)638-7083

CLINICAL TRIALSThe following researchers are recruiting subjects forclinical trials:

French Kabuki Syndrome Network. EpidemiologyManagement of Patients and Research by Array-CGHDepartment of Genetic, Necker HospitalParis, France, 75015Contact: David Genevieve, MCU PH d-genevieve@chu-montpellier.fr

Transitions - KristinContinued from page 8

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Kristin in her on-campus efficiency apartment at gradschool at the Indiana U of Penn.

A Nutritional Option For Tube-fed ChildrenBy Marsha Dunn Klein, M.Ed. OTR/L and Suzanne Evans Morris, Ph.D.

Marsha Dunn Klein, M.Ed, OTR/LOccupational TherapistMealtime NotionsPO 35432Tucson, AZ 85740520) 323-3348

Suzanne Evans Morris, Ph.D.Speech-Language PathologistNew Visions1124 Robert's Mountain RoadFaber, Virginia 22938(434)361-2285

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Continued on page 11

Adapted with permission from the Introduction of theHomemade Blended Formula Handbook

© Marsha Du nn Klein & Suzanne Evans Morris,September 2007

Many families who are providing tube feedings fortheir children have asked, “Why can’t I feed thischild the nutrition I feed my other children?” or“What can I offer my child besides the sameformula every day?” or “How would I go aboutproviding real blended food through the tube?” or“Can I still use the commercial formula and justadd a little food?” or “Where would I start”?

These families have often asked dietitians,pediatricians and other feeding team membersthese questions, only to have them admit to havinglittle or no experience with blended foods in tubefeedings. Much to the frustration of families,many of these professionals have asked them,“Why would you want to offer something besidescommercial formula?” Some professionals havesaid, “Well, I’ve never had anyone ask thatquestion, but let’s learn together.” We, as feedingteam members, need to find ways to support thefamilies who ask “why?” “how?” and “what?” andother professionals who have limited experiencesand want to learn.

What is a homemade blended formula?Historically, these types of tube feeding formulashave been called“blender feedings,” blenderizedformula,” or blenderized tube feedings.” In our

support of families, we have added the word“homemade” to celebrate the personal andnurturing nature of the preparation. We define ahomemade blended formula as any formula that aparent makes that modifies a standard formulawith “real “foods. It could be a commercialformula with a small amount of baby food fruit orvegetable added, or three meals a day of blendedfood with commercial formula at night, or acomplete diet of homemade blended foods, ormany options in between.

Historical perspectiveThe use of gastrostomy tubes, knowledge of thedigestive system and nutrition, and thetechnology of tube feedings has developed overcenturies. In the 60's and early 70's, when manyof us began supporting families of tube fedchildren, there were far fewer tubes, so ourexperience with tube feedings was limited. Onlythe sickest children received supplementalfeedings. Tubes were predominantly limited tolarger catheter tubes. Infants received tubefeedings with their infant formulas. However, asthey grew, their parents added baby foods to theformula or pureed family foods and did the bestthey could to get the food through the tube. Ourcollective experience was predominantly“blenderized feedings.”

By the mid 1970's, formula companies developedspe- cialized tube formulas based on detailednutritional research, which provided a betterunderstanding of micro nutrients and totalnutritional daily requirements. Families movedfrom blending table foods to the use ofcommercial formulas. These formulas became aneasier option for families. Dietitians andphysicians supported the use of these formulasbecause they offered nutrition based on thenewest research. They knew just how manycalories, macro nutrients and micro nutrients thechild was receiving. It was easily quantifiable,very portable, pasteurized and balanced. Familieswere sent home with cases of formula, a specific

- 11 -Homemade Blended FormulasContinued from page 10

time schedule, and a prescribed number of ouncesper feeding. Tube feedings often became just onemore procedure required of parents when theirmedically fragile children returned home from thehospital. The tube feeding process and itsvocabulary of doses and ounces and ml's or cc'sinadvertently emphasized the medical nature ofnutrition and increased the separation from thefamily meal and the feeding relationship thatparents dreamt of for their children.

Today, technology has greatly changed and madetube feedings much easier for children and theirfamilies. They’re more portable, more efficientand less restrictive. We also have become amore health-conscious and better-informedsociety. We’re learning daily from researchliterature and the popular press about foods weshould add or remove from our diets. We’reincreasing our understanding of the importance ofdiversified diets as the best way to provide themicro nutrients needed for optimum health.Parents are rightfully asking if one formula, onediet or one recipe can provide all the nutritionalvariation needed to maximize nutrition, healthand growth for their tube-fed children.

In addition many parents are asking abouthomemade blended formulas as a way to empowerthemselves in making personal choices aboutfoods. Many parents report that preparinghomemade blended formulas gives them morecontrol in their children’s growth and feeding,and allows them to nurture their tube-fed childrenwith food as they would orally fed children.

Supporting parentsAs we consider how to support families making ahomemade blended formula choice, we realize wealready have a large amount of information aboutwhat to feed children, how much to feed them atdifferent ages, what nutrients are needed foroptimal growth and how to interact with childrenat mealtimes. There’s limited research, however,into how to translate this information for tube fedchildren and their nutrition, and it’s dominated byinformation about commercial formulas and theirbenefits.

Commercial formulas need not be the only option.Many parents are feeding their childrenhomemade blended formulas and have had verypositive experiences. Instead of being written up

in scientific journals, these positive experienceshave been shared anecdotally throughprofessional discussions and from parent toparent by phone, Internet mailing lists and onlinechat rooms. We need to encourage and supportresearch about homemade blended formulas.Historically, good research is designed from abroad collection of personal and clinicalexperiences, which enables researchers to askmeaningful questions.

Team approachIt’s our belief and experience that supportingfamilies in the decision-making processnecessary for making homemade blendedformulas requires a team approach. The parent isthe leader of the team. We trust the instincts andknowledge of parents as they make everydaydecisions about feeding their orally fed children.And we need to trust parents of tube fed childrento make nutritional decisions for their children.The special considerations of tube feedingtechnology and special diets, and the translationof oral feeding knowledge to tube feeding, oftenrequires additional team support. When parentsare considering serving homemade blendedformulas, it’s very important to work closely withtheir children’s health care team, starting withthe primary care physician.

In supporting families who choose a homemadeblended formula option we need to realize thatmealtimes are personal in nature, whether they’reoral or tube mealtimes. What works for onefamily and one child may not work well foranother family and child.Parents need guidelines for providing blendedmeals through a tube, but more importantly weneed to help them find ways to listen to theirchild and move forward in offering food as thechild indicates readiness. Each child and familyis different. The choices families make in theirjourneys with tube feeding reflect their familycircumstances and dynamics, and their children’sspecific nutritional needs. No equipment or dietdefines what makes mealtimes work. Theessence of the tube- feeding mealtime lies in thebigger picture. Positive and successful mealtimes

Continued on page 12

are defined by how tube feedings are offered, howblended foods are introduced, how cues are read,and how we listen to children. It’s not ourperspective that every child who receives tubefeedings should be given a homemade blendedformula. Rather, it’s our intent to offer informationso parents and professionals can make informedchoices for feeding children who receive nutritionthrough a feeding tube.

For more information on homemade blendedformulas for tube fed children, see the newlypublished, Homemade Blended Formula Handbookby Marsha Dunn Klein and Suzanne Evans Morris,which is now available through Mealtime Notions,LLC (www.mealtimenotions.com) and New Visions(www.new-vis.com). It offers more information onhomemade blended diets for tube fed children. It isa compilation of reproducible articles that supportfamilies and professionals who are workingtogether to offer homemade blended formulas. Itprovides a starting point for making homemadeblended formulas and a sharing of information,based on what we already know about feedingchildren. It incorporates what we know aboutmealtime experiences and what helps childrengrow, and combines this knowledge with theexperiences of parents and other professionals whohave contributed to this book.

About the Authors

Marsha Dunn Klein is a pediatric occupationaltherapist from Tucson, AZ who specializes infeeding with infants and young children. She hascoauthored “Feeding and Nutrition for the Child

with Special Needs” with Tracy Delaney; “Pre-Feeding Skills, a Comprehensive Resource forMealtime Development” (1st and 2nd Editions),“The Mealtime Participation Guide”, and “TheHomemade Blended Formula Handbook” withSuzanne Evans Morris. She currently maintains aprivate practice in Tucson, Arizona at MealtimeConnections, LLC and is the founder of MealtimeNotions, LLC. She has created feeding videos andDVD’s entitled Tube Feedings are Mealtimes, Too,The Journey from Tube Feeding Towards OralFeeding, Taking Tube Feedings to School, and TheGet Permission Approach to Mealtimes and OralMotor Treatment. She is the designer and producerof the DuoSpoon ™.

Suzanne Evans Morris is a speech-languagepathologist from Faber,VA who specializes in thedevelopment of feeding programs for infants andyoung children. Suzanne maintains a professionalpractice that includes direct clinical work,continuing education workshops, development ofclinical materials and clinical research. She is thedirector of New Visions, which sponsorsinnovative workshops for the teaching of feeding-related skills, and provides family-oriented clinicalservices. She is the coauthor, with Marsha DunnKlein, of Pre-Feeding Skills: A ComprehensiveResource for Mealtime Development,2nd edition,the Mealtime Participation Guide and theHomemade Blended Formula Handbook.

This paper is a working draft and multiple copiesmay not be reproduced without prior written

permission of the authors.© Marsha Dunn Klein & Suzanne Evans Morris,

2007, All Rights Reserved

Maya Angelou

INSPIRATIONAL QUOTE

- 12 -Homemade Blended FormulasContinued from page 11

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By Dana Levinson

My daughter Mira has been tube fed since birth. Ourfamily struggled the first 18 months of Mira’s life as shethrew up multiple times a day due to her GERD (reflux).My husband, Dan, and I had to become a combination ofnurses, scientists, and mathematicians in trying to figureout the right combination of formula, feeding rate anddose, crib angle, and time between feedings to ensureMira’s comfort.

I thought this would just be a way of life until Mira“outgrew” her reflux. We would simply have to try tomake the best of it while minimizing Mira’s pain as muchas possible. Then, at a conference for parents of tube-fedkids hosted by our local medical supply company, I hearda pediatric feeding expert, Marsha Dunn Klein, speakabout the benefits of homemade blended formula. Thebenefits included: giving your child “real” food vs. a “testtube” formula. Also, older kids would have theopportunity to be involved in selecting their meals. Therewere even testimonials that a blended formula reducesreflux and GI discomfort and that kids on a blended dietimprove their oral intake.

I was a bit skeptical at first. After watching YouTubevideos of moms who would spend a whole day eachweek cooking, straining and blending, I wasoverwhelmed. Who has the time and energy for that?Supermoms, I guess. I also asked my daughter’s dieticianand doctor about blended formula and they were almostas clueless as me. However, after reading the blendedformula handbook (written by Marsha Dunn Klein andSuzanne Evans Morris) and working as a team with mydietician, we decided to try it, starting out slowly, onestep at a time.

Obviously, the reason why I decided to commit to a fullhomemade blended diet for Mira is that we saw resultsalmost immediately. Mira’s vomiting has basicallyreduced to zero. We have also been able to increase ratesso that she gets her bolus over a quicker period of time,allowing more time in between feedings to allow her asensation of full vs. empty. This is a key element inteaching kids to feel hunger.

At first, I started by justmixing some baby food intothe commercial formula.The, as I got into acomfortable rhythm, I slowlymoved towards buying a highpowered Vitamix blender tomake a fully homemadeblended recipe for mydaughter. Even at a discount,it was an expensive purchase, but very worthwhile forour family. I don’t have to spend hours – I simplify byusing frozen fruits and veggies and pre-cooked meats.I end up spending about 30 minutes, 2-3x/week makingformula and have found that to be the best solution forus. Of course, each family will be different in terms ofwhat they choose to do.

Mira’s oral eating has also improved significantly.While she is still about 70% tube fed, that is asignificant improvement over 100%. While some ofthat weaning is attributable to her sensory and oralmotor therapies, I do believe the blended formula hascontributed to her success.

Finally, I also feel really good about the foods that I’mgiving her through her tube. I joke that she eats betterthan I do, as I put things like kale and tofu in the blend,not foods that most typically fed pre-schoolers wouldvolunteer to eat on their own.

In addition to printing an article about homemadeblended formula by experts (Suzanne and Marsha), Ialso wanted to write about my own personal experiencewith the “alternative” to commercialized formula. If aparent/family does choose to pursue a homemadeblended formula, I suggest working closely with adietician on an ongoing basis and also checking with aprimary doctor to make sure that a homemade blendedformula is appropriate for that specific child. Goodluck!

My contact information is: Dana Levinson(952)285-1399 danarosenfeld@yahoo.com

Dana Levinson

Gidge

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ts

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Homemade Blended Formula Handbook

by Marsha Dunn Klein, MEd, OTR/L and Suzanne Evans Morris, PhD, CCC-SLPThis book is spiral bound, has laminated covers and is approximately 200 pages.This collection of 35 reproducible chapters and 16 food references charts is designed as a referenceand “how to” for parents and professionals who together are making the choice to try a homemadeblended diet for tube feeding.

Price: $39.95 Available for purchase at: www.mealtimenotions.com or www.new-vis.com

Vitamix 5200 BlenderHigh powered blender to make homemade blended formula.

Price: $449 retail for 5200 standard model; Refurbished models available at asignificant discount; additional 25% discount if purchasing for a medical need(i.e. tube feeding) www.vitamix.com

Have you found somethingthat has helped simplify your(and your child’s) life? We’dlove for you to let us know!

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Since the first large case series of individuals with Kabukisyndrome was published, it has been apparent thatpostnatal growth deficiency is common. In this series of62 patients with Kabuki syndrome (primarily Japanese),growth parameters were noted to be normal at birth withgrowth deficiency occurring during the first year of lifeand becoming more marked with increasing age such that83% of patients had evidence of growth deficiency(Niikawa N et al., 1988). Postnatal growth deficiency hasbeen found in other large case series of individuals withKabuki syndrome of different ethnic backgrounds rangingfrom 35% (Armstrong L et al., 2005), 61% (Kawame H etal., 1999), to 71% (Schrander-Stumpel et al., 2005). Meanfinal adult height for Japanese patients has been reportedto be -2.3 standard deviations (Niikawa N et al., 1988).

There have been scattered reports of individuals withKabuki syndrome who were diagnosed with growthhormone deficiency (Niikawa et al., 1988; Devriendt K atal., 1995; Kawame H et al., 1999; Gabrielli O et al., 2002;Armstrong L et al., 2005; Schrander-Stumper C et al.,2005). Efficacy of this therapy, however, has beenvariable with a “good response” to growth hormonedescribed in one 9 year old boy treated for four years(Gabrielli et al, 2002), an increase in growth velocity inone 3 ½ year old girl treated for 6 months, to “no changein linear rate of growth” in another patient treated from 11to 12 ½ years of age (Kawame H et al., 1999).

Treatment with human growth hormone is generallythought to be safe. However, it must be administered dailyas an injection which raises the issue of cost-benefit ratio.

While growth hormone therapy is clearly indicated inindividuals with documented growth hormone deficiency,its use in non-growth hormone deficient children is morecontroversial. As reviewed in a recent publication, mostchildren treated with growth hormone will exhibit shortterm benefit, that is an increase in growth velocity, andfinal adult height will be increased in some (Collett-Solberg PF, 2011). However, large numbers of patients,

including those with Kabuki syndrome, would need tobe studied to assess the economic, social andpsychological costs versus the benefit of gain instature.

In summary, while postnatal growth deficiency iscommon, growth hormone deficiency does not appearto be a common feature of Kabuki syndrome. Areasonable approach would be to recommend apediatric endocrinology evaluation for thoseindividuals with Kabuki syndrome who exhibit shortstature and poor growth velocity. The pediatricendocrinologist can then discuss the risks versus thebenefits of a trial of growth hormone therapy with thefamily.

References:Armstrong L et al. (2005) Further delineation ofKabuki syndrome in 48 well-defined newindividuals. Am J Med Genet 132A:265-272.Collett-Solberg PF. (2011) Update in growthhormone therapy of children. J Clin EndocrinolMetab 96:573-579.Gabrielli O et al. (2002) Kebuki syndrome andgrowth hormone deficiency: Description of a casetreated by long-term hormone replacement. ClinDysmorphol 11:71-72.Devriendt K et al. (1995) Growth hormonedeficiency and premature thelarchei in a femaleinfant with Kabuki makeup syndrome. Horm Res43:303-306.Kawame H et al. (1999) Phenotypic spectrum andmanagement issues in Kabuki syndrome. J Pediatr134:480-5.Niikawa N. et al. (1988) Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 62 patients. Am JMed Genet 31:565-589.Schrander-Stumpel C et al. (2005) Kabuki syndrome:Clinical data in 20 patients, literature review, andfurther guidelines for preventative management.Am J Med Genet 132A:234-243.

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By Dr. Louanne Hudgins

Medical Journal ArticlesUpdated May - October 2011

Continued on page 17

1. Cleft Hand in Kabuki Make-up Syndrome: Case Report. - Huh JK, Chung MS, Baek GH, Oh JH, Lee YH,Gong HS., Journal of Hand Surgery (American Volume) 2011 Apr;36(4):653-7, Department of Orthopaedics, Hand andUpper Extremity Service, Seoul National University Bundang Hospital, Seongnam, Gyeonggi-do, KoreaCommon hand anomalies associated with KMS include persistent fingertip pad, brachydactyly, clinodactyly, and laxjoints. We report a patient with KMS who presented with cleft hand, a feature that has not yet been described in KMS,and describe the potential genetic cause.

2. Congenital Lymphatic Dysplasia in Kabuki Syndrome: First Report of an Unusual Association -Morcaldi G, Boccardo F, Campisi C, Bellini T, Massocco D, Bonioli E.,Lymphology. 2010 Dec;43(4):188-91,Department of Pediatrics, University of Genoa, Gaslini Children's Hospital, ItalyHere we describe the first case of a patient affected by Kabuki syndrome associated with lymphatic dysplasia. Wesuggest accurate evaluation of all Kabuki patients as early as possible in order to diagnose lymphedema or otherclinical manifestations of lymphatic system involvement. Early identification of lymphatic system maldevelopmentprovides the best chance for reducing the risk of developing progressive lymphedema with associated tissue changes(fibrosis, sclerosis, and fat deposition).

3. Strabismus and Poor Stereoacuity Associated with Kabuki Syndrome - Kim NG, Kim HJ, Hwang JM., KoreanJournal of Ophthalmology 2011 Apr;25(2):136-8. Epub 2011 Mar 11, Department of Medical Genetics, Ajou University School ofMedicine, Suwon, KoreaThere have been few prior detailed descriptions of strabismus or stereopsis in these patients. We report a patient withKabuki syndrome who showed small-angle strabismus and poor stereopsis. This case illustrates the need for patientswith a diagnosis of Kabuki syndrome to have an ophthalmologic evaluation. Strabismus associated with Kabukisyndrome may have a small angle that can be easily overlooked.

4. A Mutation Screen in Patients with Kabuki Syndrome - Li Y, Bögershausen N, Alanay Y, Simsek Kiper PO,Plume N, et al.. Hum Genetics 2011 May 24. [Epub ahead of print], Institute of Human Genetics and Center for MolecularMedicine Cologne (CMMC), University Medical Faculty, University of Cologne, Kerpener Str. 34, 50931, Cologne, GermanyIn our study, we sequenced all 54 coding exons of the recently identified MLL2 gene in 34 patients with Kabukisyndrome. We identified 18 distinct mutations in 19 patients, 11 of 12 tested de novo. Mutations were located all over thegene and included three nonsense mutations, two splice-site mutations, six small deletions or insertions, and sevenmissense mutations. We compared frequencies of clinical symptoms in MLL2 mutation carriers versus non-carriers.MLL2 mutation carriers significantly more often presented with short stature and renal anomalies (p = 0.026 and 0.031,respectively), and in addition, MLL2 carriers obviously showed more frequently a typical facial gestalt (17/19)compared with non-carriers (9/15), although this result was not statistically significant (p = 0.1). Mutation-negativepatients were subsequently tested for mutations in ten functional candidate genes (e.g. MLL, ASC2, ASH2L, and WDR5),but no convincing causative mutations could be found. Our results indicate that MLL2 is the major gene for Kabukisyndrome with a wide spectrum of de novo mutations and strongly suggest further genetic heterogeneity.

5. Cancer Predisposition in Children with Kabuki Syndrome - Casanova M, Selicorni A, Ferrari A.Am J Med Genet A. 2011 Jun;155A(6):1504. Epub 2011 May 5

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- 17 -Medical articles...Continued from page 16

Continued on page 18

6. `Mutation Spectrum of MLL2 in a Cohort of Kabuki Syndrome Patients - Micale L, Augello B, Fusco C,Selicorni A, Loviglio MN, Silengo MC, et al., Orphanet Journal of Rare Disorders 2011 Jun 9;6:38, Medical Genetics Unit,IRCCS Casa Sollievo della Sofferenza Hospital, 71013 San Giovanni Rotondo, ItalyGenomic DNAs were extracted from 62 index patients clinically diagnosed as affected by Kabuki syndrome. Sangersequencing was performed to analyze the whole coding region of the MLL2 gene including intron-exon junctions. Theputative causal and possible functional effect of each nucleotide variant identified was estimated by in silico predictiontools. We identified 45 patients with MLL2 nucleotide variants. 38 out of the 42 variants were never described before.Consistently with previous reports, the majority are nonsense or frameshift mutations predicted to generate a truncatedpolypeptide. We also identified 3 indel, 7 missense and 3 splice site. This study emphasizes the relevance of mutationalscreening of the MLL2 gene among patients diagnosed with Kabuki syndrome. The identification of a large spectrum ofMLL2 mutations possibly offers the opportunity to improve the actual knowledge on the clinical basis of this multiplecongenital anomalies/mental retardation syndrome, design functional studies to nderstand the molecular mechanismsunderlying this disease, establish genotype-phenotype correlations and improve clinical management.

7. Spectrum of MLL2 (ALR) Mutations in 110 Cases of Kabuki Syndrome - Hannibal MC, Buckingham KJ, NgSB, Ming JE, Beck AE, McMillin MJ, et al., Am Journal of Medical Genetics A. 2011, Jul;155A(7):1511-6. Epub 2011Jun 10, Department of Pediatrics, University of Washington, Seattle, 98195, USASimplex cases make up the vast majority of the reported cases with Kabuki syndrome, but parent-to-child transmissionin more than a half-dozen instances indicates that it is an autosomal dominant disorder. We recently reported thatKabuki syndrome is caused by mutations in MLL2, a gene that encodes a Trithorax-group histone methyltransferase, aprotein important in the epigenetic control of active chromatin states. Here, we report on the screening of 110 familieswith Kabuki syndrome. MLL2 mutations were found in 81/110 (74%) of families. In simplex cases for which DNA wasavailable from both parents, 25 mutations were confirmed to be de novo, while a transmitted MLL2 mutation was foundin two of three familial cases. The majority of variants found to cause Kabuki syndrome were novel nonsense orframeshift mutations that are predicted to result in haploinsufficiency. The clinical characteristics of MLL2 mutation-positive cases did not differ significantly from MLL2 mutation-negative cases with the exception that renal anomalieswere more common in MLL2 mutation-positive cases. These results are important for understanding the phenotypicconsequences of MLL2 mutations for individuals and their families as well as for providing a basis for the identificationof additional genes for Kabuki syndrome.

8. Ectodermal Abnormalities in Patients with Kabuki Syndrome - Abdel-Salam GM, Afifi HH, Eid MM, El-Badry TH, Kholoussi N., Pediatric Dermatology 2011 Sep;28(5):507-11. Epub 2011 Jun 22, Clinical Genetics DepartmentHuman Cytogenetics Department Orodental Genetics Department Immunogenetics Department, Human Genetics and Genome ResearchDivision, National Research Centre, Cairo, EgyptIn this study, we focus on some ectodermal manifestations that we have observed. We studied seven patients whofulfilled the clinical criteria for KS and undertook a detailed clinical, dental, cytogenetic, and immunoglobulinassessments. In addition, microscopic hair examinations were performed on all patients and compared with matchedcontrol patients. All patients had receding of the anterior hair line, but five had evident sparse frontal scalp hair. Theyall showed peculiar similar microscopic hair abnormalities in the form of twisting of the hair shafts, irregularity of thediameter of the hair, and trichorrhexis nodosa. In addition, hypoplastic nails, café-au-lait patches, and missing upperlateral incisors were observed in 57.1%, 28.6%, and 14.3% of the patients, respectively. Variable orodental anomalieswere seen in all the patients with an everted lower lip found in four patients (57.1%). This report provides furtherevidence that some cases of KS have ectodermal involvement.

9. Long-term Outcome of Epilepsy in Kabuki Syndrome - Verrotti A, Agostinelli S, Cirillo C, D'Egidio C, MohnA, Boncimino A, Coppola G, Spalice A, Nicita F, Pavone P, Gobbi G, Grosso S, Chiarelli F, Savasta S.Seizure. 2011 Oct;20(8):650-4. Epub 2011 Jul 7, epartment of Pediatrics, University of Chieti, Via dei Vestini 5, 66100 Chieti, Italy

Medical articles...Continued from page 17

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The Kabuki Journal is the newsletter of the Kabuki Syndrome Network. The purpose of this news-letter is toprovide information and support to individuals with Kabuki syndrome and their families. KSN will not knowingly printinaccurate or libelous material. KSN does not promote or endorse any treatment or professional. Consult your private

physicians / professionals for information and advice regarding medical and therapeutic treatments.

Although epilepsy is one of the most common clinical complications associated with KS, few studies have evaluated itselectroclinical aspects and long-term outcome. Therefore, we describe here a clinical series of 10 Caucasian KS patientswho developed epilepsy in childhood. We followed all children for at least 5 years. All patients presented partialseizures and interictal EEGs revealed focal epileptic paroxysms with prevalent involvement of temporo-occipital areas.Seven children had no central nervous system abnormalities, but enlargement of lateral ventricles, corpus callosumhypoplasia, and adenohypophysis hypoplasia were revealed in three. Although antiepileptic drug (AED) treatment waseffective in controlling seizures and normalizing EEG abnormalities in 8 patients, the other 2 cases were resistant tomultiple AEDs. In one of these two patients, withdrawal of AED resulted in status epilepticus and death. Partialseizures and temporo-occipital abnormalities on interictal EEG are common features of KS patients who suffer fromepilepsy. Prognosis of this epilepsy is favourable in the majority of cases with complete disappearance of seizures andEEG abnormalities.

10. Macular Dystrophy in Kabuki Syndrome: A New Clinical Feature? - Lindfield D, Griffiths MF, ThompsonDA, Moore AT., Journal of Pediatric Ophthalmology Strabismus. 2011 Jul 19;48:e40-2Macular dystrophy has not previously been noted in conjunction with this syndrome. The authors present a 14-year-oldgirl with Kabuki syndrome with macular dystrophy and confirmatory electrodiagnostics.

11. An Infantile Case of Zellweger Syndrome Presented with Kabuki-like Phenotype - Ezgu E, Eminoglu T, OkurI, Gunduz M, Tumer L, Hasanoglu A, Dalgic B., Journal of Genetic Counseling 2011;22(2):217-20Gazi University Faculty of Medicine, Department of Pediatric Metabolism, Division of Genetics and Molecular Diagnosis, Ankara, TurkeyIn this report a case with late onset Zellweger syndrome who had some phenotypical findings which are also seen inKabuki Syndrome will be presented. The inclusion of Zellweger syndrome into the differential diagnosis of the patientswith Kabuki-like phenotype in addition to abnormal liver functions is emphasized.

12. Kabuki Syndrome - Adam MP, Hudgins L, Hannibal M., Editors: Pagon RA, Bird TD, Dolan CR, Stephens K.,GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.2011 Sep 01Submission to GeneReview. GeneReviews are expert-authored, peer-reviewed disease descriptions that apply genetictesting to the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions.It is published exclusively online.Please see: http://www.ncbi.nlm.nih.gov/books/NBK62111/

13. Kabuki Syndrome: A New Case Associated with Becker Nevus - Cuesta L, Betlloch I, Toledo F, Latorre N,Monteagudo AF., Dermatology Online Journal. 2011 Aug 15;17(8):1, Department of Dermatology, Hospital GeneralUniversitario, Alicante, SpainWe present a case of Kabuki syndrome in a 6-year-old boy who, in addition to the various features typical of the disease,also exhibited a Becker nevus - a condition not previously associated with this syndrome. The usefulness of dermoscopyin studying alterations in the dermatoglyphic patterns is also discussed.