The National Fragilequarterly X Foundation A Journal for Families and Professionals

Inside: columns Readers Respond... 1

From the Executive Director 2 Being Fair

Public Policy Update 3 It’s Time to TEAM Up for Our Kids

Braden on Behavior 4 Navigating the Road to Inclusion With

Support 6 Guardianship for Your Child (Fragile X) fragile x syndrome (FXS) Children Sleep in Children With Fragile X Syndrome: 8 Pg. 12 A Bio-Psycho-Social Approach

Cover Story 12 Married...With (Fragile X) Children

Therapy In Action 14 Doggone It, Mantras Are Great for Learning!! research, reports and announcements Focus on Volunteers 10 Four Who (Continue to) Step Up mGluR5: A Primer 16

Employment First! 18 Employment First! NFXF Joins Growing Chorus on Job Rights for People With Disabilities Self-Determination Movement Focus on ‘Fun’draising 22 Gains Traction Spring Fragile X Fundraising Fun Pg. 18 New Board Members 24

Join Us in Celebrating! See page 23

Issue 41 n June 2011 What Is Fragile X? The term “Fragile X” represents a group of genetic The National Fragile X Foundation disorders, referred to as “Fragile X-associated PO Box 37 n Walnut Creek, California 94597 Disorders,” that have a variety of impacts on affected Phone: (925) 938-9300 Email: [email protected] individuals and their families. The disorders include: Toll free: (800) 688-8765 Web: www.FragileX.org n Fragile X syndrome (FXS)—Caused by the Fax: (925) 938-9315 full mutation of the Fragile X gene, FXS is the most common cause of inherited mental impairment. The NFXF Staff: Its effects range from learning disabilities to severe Robert Miller Joshua Prasad mental retardation and autism. Symptoms often Executive Director Shipping Clerk include unique physical characteristics, behavioral Liane Abrams, MS, CGC David Salomon disorders, and delays in speech and language Genetic Specialist Meeting & Technology Coordinator development. Phil Campbell Linda Sorensen, MS Administrative & Program Assistant Associate Director n Fragile X-associated tremor/ataxia syndrome Jeffrey Cohen Meghan McMurray (FXTAS)—A condition affecting some male (and Director of Government Affairs & Development Coordinator in rare cases, female) carriers of the premutation Advocacy Jayne Dixon Weber over age 50, causing balance, tremor and memory Sam Jacob Coordinator of Support Services problems. Assistant Shipping Clerk

n Fragile X-associated primary ovarian insuffi- Teddy Palmer ciency (FXPOI, or early menopause)—A condition Database Specialist affecting some female carriers of the premutation. services offered: Fragile X can be passed on in a family by Telephone consultation and basic informational packet—free individuals with no apparent sign of the condition. Educational resources (books, videotapes, CD)—fee In some families, multiple generations are affected, Local, national, and international conference sponsorship while in others, it may cause problems in only one Referral to medical, genetic and support services—free Legislative advocacy person. Research grants Since 1984, The National Fragile X Foundation Membership with quarterly journal—fee (NFXF) has been helping individuals with Fragile X, Services offered to: their families, and the professionals who work with Individuals, families, professionals, institutions, and students them. As research into Fragile X continues, our involved with or impacted by Fragile X understanding of who it affects and how it affects Service Referral: Self or professional them will grow. The NFXF is committed to: Eligibility: All 1) supporting and funding all efforts that will increase Service Area: National and international awareness, 2) improving education, 3) advancing Dues-Paying Members: Over 1,100 Phone, Email and Postal Contacts: Approximately 10,000 annually research toward improved treatments and an ultimate Unique Website Visitors: Over 600,000 annually cure, and 4) keeping the Fragile X community always Founded: 1984 as a public non-profit 501(c)(3) charitable organization well-informed about the progress of these efforts. Federal Tax ID Number: 84-0960471 Funding: Individual contributions, family and corporate foundations, government grants The Fragile X Quarterly is published four times annually by The National Fragile X Foundation. The journal is Mission Statement distributed to members and others by request. Please The National Fragile X Foundation unites the Fragile X community to: contact the foundation regarding content or distribution. n Enrich lives through educational and emotional support Managing Editor: Andrew Hidas n Promote public and professional awareness

n [email protected] Advance research toward improved treatments and a cure for Fragile X. Executive Editor: Robert Miller Contributing Editor: Linda Sorensen Design: Karen Ashton The National Fragile X Foundation

READERS RESPOND… quarterly

We get many thoughtful letters from readers affected by something they read in the Fragile X Quarterly. So it is a pleasure to finally act on our long-held intention to institute a Letters section so those voices can be shared with a larger audience, and the dialogue on all things Fragile X can continue to enrich us all. Please: if you are intrigued, inspired, concerned, confused, overjoyed, or otherwise moved by something in these pages, we urge you not to stuff the feeling away or confine conversation about it to your spouse or friend. Instead, dash off an email to [email protected], or do it the old-fashioned-but-still-viable way of snail-mailing a note to: Editor, Fragile X Quarterly, 1615 Bonanza Street, Suite 202, Walnut Creek, CA 94596. —Andrew Hidas Managing Editor

Thank you for your recent article by Carly Heyman in my opinion, under-diagnosed problem out of the closet of (“Living With FXPOI,” March, 2011), which highlighted her shame and taboo and into the light of research, optimism and experience with FXPOI and the effect it has had on her life. acceptance. As a 33-year-old woman with FXPOI, I understand completely My hope is that Ms. Heyman will be able to one day the author’s struggles and appreciate her honesty. conceive via egg donation (as I did), adopt, or find her child It is easy to think of FXPOI as the “least problematic” in another way, because she is right—FX is a part of us, but it effect of FX, because it is something that is not obvious, is not us. We need to work around it to achieve our goals of nor outwardly debilitating, nor easily discussed in everyday parenting and to work with it to live the active, healthy lives conversation. However, its impact is tremendous: not only do we deserve. sufferers usually lose the ability to have a genetic child, as I did, Abby Stillman Grayson but they are riddled with the symptoms of menopause at a very Belle Mead, NJ young age. This goes a long way to degrade one’s quality of life, especially if the FXPOI is not diagnosed or is not properly managed. And that said, once it is diagnosed, it is quite Thank you, Robert Miller, for your column (“Things You difficult to find doctors who are a) familiar with it, b) willing May Already Know”) in the March, 2011 Quarterly (No. 40). to think critically about it, c) sensitive to its unique issues and It made me tearful to hear the encouraging words that I need to challenges, and d) knowledgeable about how to approach listen to the experts but that I know my child best, and I am his its treatment. In today’s world of controversy over hormone expert. Also, that our children are lifelong learners. It can be so replacement therapy, the answers are not always so cut-and- discouraging as a parent when so many don’t believe in your dried, which makes knowledgeable and committed doctors child (especially during this time with IEP annual reviews). even more of an essential resource. Sadly, they are very few Thank you for your work with Fragile X. You are appreciated! and far between. Ginger Stringer As I imagine is the case for most women with FXPOI, Colorado Springs, CO I did not get a diagnosis until I tried to conceive on my own. And even once I got a diagnosis (POF), I did not get an explanation (due to my FX premutation) until I sought out a Last week I received the link for the latest Fragile X doctor who knew something about ovarian failure in general. Quarterly and I must say I was very impressed with Robert I hope that as your organization moves forward with its efforts Miller’s column (“Things You May Already Know,” March, to educate the public and the medical community, to support 2011). It made so much sense and is just so practical and relevant research, and to advocate for those of us impacted by applicable. His insight is something I can re-read in times of FX, this will change and knowledgeable doctors will become confusion. It surely gave me a lot of clarity. Thank you. a dime a dozen. In the meantime, I am heartened by stories Shakini N. Kedia like Ms. Heyman’s, which bring this often-overlooked and, Fragile X Society, Mumbai, India

The National Fragile X Foundation Quarterly Issue 41 n June 2011 1 from the executive director Robert Miller

Being Fair

We all talk about being fair. We accordingly. That’s why we update our strategic plan annually encourage our children, our political and why all major decisions are reviewed by board committees leaders and many others to be fair. before being brought to the full board. We probably all have a pretty good sense of what we mean by Fairness takes on increasing importance through the life “fair” when we say it ourselves, but our perspectives may not cycle of individuals with fragile X syndrome. Parents work hard always be so self-evident to others. So it is important that we be to assure their children’s equal access in the school setting, and clear about our notions of fairness, especially since fairness has as the children mature toward adulthood, it is equally important always been, and is becoming more so, an issue in the world of that fair and equal access and sup- Fragile X. ports are in place to maximize their It’s a new era in Fragile X, and things are getting The NFXF is opportunities for taking part in the complicated. Multiple universities, pharmaceutical companies, putting policies and everyday world of home, community diagnostic companies and others, from both the for-profit and procedures into and work. This issue cuts right to non-profits worlds, are becoming involved in the field. Each place to help ensure the core of fairness. Many years ago brings different capabilities and interests to the table, but each is that we treat all (35 to be exact), we committed as also interested in improving the lives of families. Make no parties fairly and a nation to fairness for all children mistake: this is great news, and most all of the new challenges with special needs. Please read keep the needs that the involvement of these parties presents to the NFXF are Serena Lowe’s article on page 18 to great challenges to have. That said, sorting out the interests, of the Fragile X better understand how we are now influences and priorities of all these parties and their relation to community of going to get to a better and more our foundation and families makes the issue of fairness more families front fair world for adults. important than ever. and center in Finally, what is more fair than To address these new challenges, the NFXF is putting our decision- ensuring equal access to the latest policies and procedures into place to help ensure that we treat making process. treatments by professionals knowl- all parties fairly and keep the needs of the Fragile X community edgeable about best practices for of families front and center in our decision-making process. Fragile X-associated Disorders? That is why we now have an ethics committee that will advise That’s why I am very pleased to tell you that two new clinics the board and staff. The committee is comprised of professionals (Dallas and Houston, Texas) have been admitted into the from both inside and outside the organization, and it includes Fragile X Clinical & Research Consortium and that another eight parents and those without children. We also have a corporate will likely be submitting applications this year. While geographic advisory council, with representatives from pharmaceutical and access is only part of the fairness equation, it’s a critical part. diagnostic companies, and our scientific & clinical advisory (Visit “Clinics” at www.FragileX.org to view all member clinics.) committee has been subdivided into five new subcommittees so So as the NFXF moves forward, we’ll continue to strive, that they can better focus their advice. Each of the above is an on your behalf, to do the right thing, the best thing and the fair important participant in the future of Fragile X treatment. thing. Fair enough? n I share all of this with you because I want you to know The author has been executive director of the NFXF since 1999. that the NFXF is always moving forward and doing its best Email: [email protected] to anticipate change and adjust our goals and procedures

2 Issue 41 n June 2011 The National Fragile X Foundation Quarterly public policy update J. Brad Whitus

It’s Time to TEAM Up for Our Kids

I keep telling myself that I remember Cathy McMorris-Rodgers (R-WA), Gerry Connolly high school like it was yesterday…but (D-VA), and our new FX Caucus Co-Chair, Eliot Engel (D-NY), maybe that’s just amateur psychology introduced a comprehensive package of legislation known as the to convince myself I’m still young. That psychological sleight-of- Transitioning towards Excellence & Achievement in Mobility hand is becoming less and less effective—or believable—as one (TEAM) Acts. Filed just in time to include in our Advocacy Day of my own puts high school in her rearview mirror as this issue 2011 agenda, the TEAM legislation consists of a coordinated goes to print. Notwithstanding her full mutation, Kenney, helped trio of bills, all focused on realigning the goals of the federal along by a bunch of tutoring and late nights, will graduate near government to meaningfully support youth with significant dis- the top quarter of her class. More exciting (or scary), she has abilities as they transition from the educational setting toward been accepted to Western Kentucky University’s music school, integrated employment within their communities. and with the support of WKU’s Kelly Autism Program, will “In order for individuals living with intellectual and work toward a bachelor’s degree in music education. developmental disabilities to reach their maximum potential, Barring a medical breakthrough from our incredible Congress must enact a systems change,” said Harper. community of Fragile X researchers, which I am certainly not “The current federal disability laws are hopelessly outdated and counting out, her younger sister, Christy, won’t have that same will ultimately lead to unemployment and poverty for opportunity. She will face that proverbial “cliff” so many of our these children.” children face after high school, when the supports and programs n The TEAM-Education Act (H.R. 602) amends the we fought so hard for with school administrators abruptly come Individuals with Disabilities Education Act by: to an end. 1. Requiring transition components to be included in Students with significant disabilities often leave high school Individual Education Plans (IEPs) for all IDEA- unprepared and without the supports in place to find and eligible students at the age of 14; maintain employment or pursue secondary education. While the 2. Expanding the definition of transition services to Individuals with Disabilities in Education Act (IDEA) requires include customized employment strategies and self- schools to provide transitional services for students through determination activities; high school, there is no enforcement, monitoring or evaluations 3. Clarifying that local education authorities can use making sure they are effective. Instead, students leave the school discretionary dollars to bring in transition expertise system unprepared for adulthood, often lacking the guidance or contract out transition services. Disability and skills to search for a job with a salary to support a self- advocates are now pushing to include many of the sufficient lifestyle. provisions outlined in the TEAM-Education Act in a Our champion in Washington, Gregg Harper (R-MS), has reauthorization of the Elementary and Secondary faced that cliff in his own family. To our great fortune and like Education Act (ESEA) in the 112th Congress. no others before, Congressman Harper has the unique combi- n The TEAM-Employment Act (H.R. 603) amends the nation of being in a position to initiate change, and a vision to Rehabilitation Act to realign preferred outcomes for define that change with insight, compassion, and responsibility. individuals with significant disabilities, and streamlines To address the numerous systemic barriers and better public funding by requiring vocational rehabilitation promote the advancement of youth with significant disabilities systems to actively engage with other state entities. The bill transitioning to adulthood, Congressman Harper, together with continued on page 25 

The National Fragile X Foundation Quarterly Issue 41 n June 2011 3 FXS braden on behavior Marcia Braden, PhD

Navigating the Road to Inclusion

I ncluding special needs children in achieving an appropriate education for students with FXS. In general education classes is grounded order to design effective outcomes, the parents and school team in special education law. But however sound the theory and need to define the purpose of the inclusion. In other words, there purposeful the law, having special needs students successfully needs to be a reason for the student to be included. Otherwise, included with typical peers often eludes reality. the time spent in the general education classroom may reduce The momentum to include students with FXS in the the time needed for other services that are often equally or more general education mainstream grew out of the Individuals with important to the child’s individual educational needs. The chart Disabilities Education Act (IDEA). The assertion that children that follows defines a number of the necessary supports given with disabilities had a civil right to attend school in their home specific targeted outcomes associated with the inclusion of an school setting grew out of Civil Rights litigation. The emphasis individual with FXS. to include students with FXS in general education classrooms has been noted throughout the literature. Perhaps the impetus for this movement comes from the fact that children with FXS OUTCOME NECESSARY SUPPORTS have a considerable interest in people—one of the hallmarks of Social • Viable peer group this population is a strong desire to interact socially. This often • Social facilitator makes inclusion more viable and increases the success rate. • Flexible setting It is important to remember, however, that levels of • Opportunities for natural contexts affectedness vary from one individual to another, and placement options must include enough flexibility to meet individual needs. Behavioral • Appropriate role models There are occasions when inclusion can wind up being restrictive • Structured and predictable schedule to children with severe needs. • Cooperative learning opportunities Symons, Clark and Roberts, 2001 studied the classroom • Organized classroom engagement of elementary school children with FXS and determined that the engagement was strongly related to the Academic • Specialized instruction environmental and instructional quality propagated by the • High interest content teachers and classroom. How the teachers structured and • Enrichment opportunities arranged the classroom environment was much more important • Emphasis on visual presentation to student engagement than were specific aspects of the child’s • Opportunities for priming Fragile X status, medication use or dual diagnosis. This research or pre-teaching clearly defines a number of environmental and instructional • Collaboration between SpecEd factors that are important when choosing a general education and general education staff classroom. Successful inclusion cannot be accomplished without a Vocational/ • Viable work models systematic, sequential process. Just placing the student with Prevocational • Positive work environments FXS in a general education classroom with a para-professional • Flexible breaks close by does not necessarily constitute success. Likewise, the • Consistent staff mere placement or proximity to typical peers is insufficient in

4 Issue 41 n June 2011 The National Fragile X Foundation Quarterly After the desired outcome is established, the team needs to design certain strategies to assist the student to be successful in the general education classroom. If the student outcome aims for participation in the general education curriculum, it is often important to prime or pre-teach certain concepts or lessons beforehand. Collaboration between the special education and general education staff is critical to accomplish this level of coordination. When effectively done, this priming will help link individual instruction into larger group activities. This can also be effective when the desired outcome is to increase social interactions with typical peers. The level of prompting and facilitation should be determined based on the need of the individual. It is always best to use the least intrusive level of facilitation as possible. The student’s behavior and level of participation will dictate the need for more or less teacher or para-professional support. Because children with FXS respond better to visual input, effective prompting can often include visual schedules or icons. This enables the student to participate with less dependency on the attending adult. In addition, it is best to have the classroom planned execution of their inclusion. Each had a para- teacher responsible for redirection and facilitation because that professional in close proximity, tending to the student as if the is most like what is done for typical peers. Classroom rules para-professionals were teaching a class within a class. The and behavioral expectations should be the same for students tutorial relationship between the student and para-professional with FXS unless there is a Behavior Intervention Plan (BIP) in precluded those with FXS from being able to participate in place, which usually defines certain behavioral characteristics the natural interaction within the general education class. to be a manifestation of the disability. In those cases, special In one setting, the students were grouped in sets of four and considerations are required. the students with FXS sat at their own table with two para- Transitions can be difficult for students with FXS, and they professionals and no general education peers. The obvious are very common in the general education setting. Providing a question was: How does this qualify as inclusion? Inclusion predictable schedule with visual supports is important. If the is not “making students with FXS look typical”; it is instead student is aware of the change ahead of time, the element of helping students with FXS bring their own unique qualities into surprise is eliminated. In addition to providing a visual schedule the general education classroom, with full access and acceptance, and other structured strategies, teachers can use using a less to the benefit of all. Hopefully, with good planning and emphasis direct approach such as side dialoguing among the adults in on desired outcomes, the intent of IDEA will continue to bloom the classroom to alert the student to pending changes. (“So into positive and fulfilling experiences for students with FXS— Ms. Johnson, it looks like we’ll be ready to dismiss the students and for those with whom they share a learning environment. n for lunch in five minutes.”) It is often prudent to afford the student with FXS an The author is a psychologist and special education opportunity to carry equipment from the gym back to the consultant in Colorado Springs who specializes in Fragile X. classroom or assign him or her some particular job to complete She is the author of Fragile: Handle With Care, and creator as part of the transition time. This may help lessen the anxiety of the Logo® Reading System. associated with the change. Contact: http://[email protected] Recently, after observing several special needs students in their included environments, I was struck by the poorly

The National Fragile X Foundation Quarterly Issue 41 n June 2011 5 FXS support Jayne Dixon Weber

Guardianship for Your Child

A t the age of 18, children become 7. Turn in the forms at your county courthouse (keep a copy legal adults, which means the parents for yourself). You’ll pay a filing fee (we paid $175) and you are no longer their legal guardians, may have the option of purchasing copies of the approved even if the children have disabilities. In order to continue helping guardian papers (we bought two at $25 each). their children take care of themselves, make decisions in the 8. Prepare for a court visitor who contacts you soon after children’s own best interests, and handle their assets, parents filing. This person comes to your home to meet you, your have to initiate a process of assuming legal guardianship of their spouse if you have one, and your child. If your child lives adult children. My husband and I recently went through this with a care provider elsewhere, the visitor will go there, too. experience with our son Ian. When the visitor called we asked what kinds of questions she Arranging guardianship for Ian was not as bad or as would ask. She said they would be about what Ian does during difficult as I thought it would be. Here is the approach my the day, and about us becoming his guardians. When I said I husband and I used, turned into a series of guidelines for you didn’t think he would understand the part about guardians, to consider. (My disclaimer: We are not attorneys and do not she said she might ask, “Do you want your mom and dad to pretend to be. This is what worked in our state and in our city— keep helping you make decisions?” Boulder, Colorado, earlier this year. Some or all of the guidelines 9. Prepare your child for the visitor. Tell your child there is below may differ in your own jurisdiction.) a process that parents have to complete in order to keep 1. Gather information. Call your local Arc or your local helping their children. Then ask, “Do you want your mom disability office to see if they offer classes on guardianship. and dad to keep helping you make decisions?” When he Also, talk to any friends who have gone through the says yes, tell him a person is coming who will ask that process. You can also search for your state-specific question (or something like it). Say: “If you want us to keep information on the Internet. Search for “guardianship (your helping you then tell her yes.” state).” Every state is different. 10. When the court visitor comes, he or she will ask you 2. Ensure you have a complete set of the latest forms. You can why your child needs a guardian. Let’s see: for help with go down to your local courthouse and pay for the forms or things like getting up in the morning, personal hygiene, you can download them from the Internet. wearing appropriate clothes, getting to/from work, money 3. Get a handbook or some kind of guidelines that lay out the management, making/attending medical appointments, process and responsibilities of all the parties in your state. taking medications, getting to activities, and the fact that This will help you and it will help you help your child. reminders are needed for almost everything. The visitor may 4. Call your local courthouse to see if there is access to free also ask, “Why should you be guardians and not someone attorney time. You might not need it, but it is nice to know else?” I summed it up this way: “We know him better than if it is available. anyone else and love him more than anyone else and want 5. Begin filling out the forms and use some sticky notes for the absolute best for him.” places where you have questions. Then if you take it to the 11. You might ask the court visitor about getting your child’s attorney, you can go right to your questions. case early on the docket. The visitor should have the name 6. Complete the forms. Note that some must be notarized and and phone number of the judge’s clerk. Call and tell the there are timelines for distributing copies to “interested par- clerk that your child has a disability (we mentioned anxiety ties.” (This is in case someone “objects” to your guardianship.)

6 Issue 41 n June 2011 The National Fragile X Foundation Quarterly and pacing) and that you would appreciate it if your case “Yeah you do,” I said, “but we all have to go—you and could be early on the docket. me and Dad. It’s no big deal. We go in a room and there will be 12. Make sure you send out the notices/paperwork required to a person called a judge and the judge will ask you if you want all “interested parties.” There is a deadline. your mom and dad to keep helping you and you will say yes and 13. Prepare your child for the court visit. These are some things you we will be done.” might want to mention, maybe a day or two in advance: Ian says, “What’s the court

n We all have to go to court—you, Mom, and Dad—to look like? Like any other room?” see a judge, who will ask, “Do you want your parents The afternoon before I’m not sure where he’s going with to keep helping you make decisions?” You will want to the court date, this so I say, “Uh, yeah, pretty answer “yes.” Ian stomps down the much like any other room.” And n At the courthouse, you have to go through security like at steps in our house he says, “What does the judge the airport. and announces more wear? Just regular clothes?” n You will then go to the courtroom. There will probably distinctly than I “Uh, yeah, I think regular be other people there, doing the same thing you are. clothes. Why?” have heard before, n You have seen courtrooms on television—they pretty “Because I’m not going,“ much look like that. “I AM NOT GOING he says.

n Right before the session starts, a person will come in TO COURT!’” We are a week out at this and say, “All rise.” Everyone stands up. Then the judge point. I cannot believe his care walks in right after that and says, “Please be seated.” provider told him about the court this far out, because I know Then everyone sits down. The judge could be a man or a Ian is not just going to worry about it, he is going to WORRY woman. about it. Every day for the next few days, I hear, “I’m not going

n The judge will have a black robe on. The judge does have to court.” And he walks off. regular clothes on under the robe. The afternoon before the court date, Ian stomps down the

n The judge will call your name because the case is in your steps in our house and announces more distinctly than I have name. You’ll walk with Mom and Dad to the front of the heard before, “ I AM NOT GOING TO COURT!” courtroom. The judge will ask the names of the parents. “Ian, it’s really not a big deal.” Then she will ask you the question about us helping you “I’M NOT GOING.” Then he throws his glasses across the make decisions. The judge will say that all the paperwork room. “Ian,” I start to say. looks to be in order and then sign the approval. We “I’M NOT GOING.” His cell phone flies across the room. will pick up the paperwork and everyone can leave the Calmly, but quickly, I say, “Ian…tell me why you don’t want to courtroom. And it will be done. go to court?” 14. An annual report has to be filed. You will be given a date, His voice becomes very sad. It starts to crack as he says, for which you will not receive a reminder. It is similar to “Because I don’t want to go to jail.” what is on the application, the purpose is to see if there are I stop, feeling that wave of “Oh wow” rush over me, and any changes in your child’s life. You can mail or turn it into then every court scene Ian has ever seen on television runs the courthouse. through my mind—you know, the scenes where a person goes to You are now the guardians of your child. Others have court and then goes to jail. And ever so slowly I say, “Ian, you recommended to me that I carry an original of the guardianship do not have to go to jail. You will never have to go to jail. This papers wherever I go. Keep a copy in your car and always take a court is different. I promise.” copy when you travel. Ian walked out of the courtroom the next day, gave me a big smile and said, “Mom, I did it.” I smiled back, “Yes, you did.” Those are the basics. Now for part of our story: Good luck and let me know how it goes! n Ian arrives home the day after the court visitor comes to our house and says, “Jack (Ian’s provider) says I have to go to The author is the support services coordinator for the NFXF. court.” We had not told Ian about the court part yet. Send your questions to her at: [email protected]

The National Fragile X Foundation Quarterly Issue 41 n June 2011 7 FXS By Rebecca Kronk, MSN, CRNP, PhD Sleep in Children With Fragile X Syndrome: A Bio-Psycho-Social Approach

S leep is a universal behavior among mammals, birds, and age groups and both genders. reptiles. Even blue-green algae have biological clocks. Although Waking up too early was ranked Given that sleep patterns, habits, postures and habitats differ among next highest for males, followed individuals with species, sleep is basic to life. The purpose of this article is to by restless sleep in both genders. FXS tend to have highlight the complex interactions involved in sleep and to Children with more problematic an already encourage a thorough approach to behaviors causing sleep health or behavioral characteristics problems in children with fragile X syndrome. (i.e. inability to interact, listen, compromised In the animal kingdom, safety and survival needs adapt) had a higher likelihood of nervous system, underscore many adaptations to sleep. For example, birds often having current sleep problems. optimum sleep is sleep with one eye open during non-rapid eye movement sleep These children were also more essential to their (NREM) so they can be aware of likely to be taking medications. functioning. potential threats and be able to fly for Approximately 40 percent great distances. Newborn dolphins of parents felt that medical swim along their mothers and are able interventions had no or little effect on sleep difficulties. Up to 62 to rest half of their brains by keeping percent reported that behavioral interventions had no or little one eye open towards her and the effect on their child’s sleep problems. other closed. Typically, lab rats live for So: given the centrality of sleep to virtually all life and two to three years, but when deprived the centrality of sleep problems in many children with FXS, of rapid eye movement (REM) sleep what is a parent to do? Although there are very few studies Rebecca Kronk they survive an average of five months. (either medical or behavioral) that provide evidenced-based If deprived of all sleep they survive only three weeks. data on effective interventions for ensuring adequate and We are only beginning to recognize the safety and social restorative sleep for the FXS population (Weiskop, Richdale, constructs of sleep inherent in each of us. The power of social Matthews, 2005; Wirojanan, et al, 2009), a practical approach belonging and our vigilance system are mechanisms that have to assessment should result in an appropriate treatment plan. naturally restricted sleep to a perceived safe environment. Since Always be apprehensive of “one size fits all” recommendations sleep and vigilance are opposing processes, the tension between for children with FXS, who are in the throes of a challenging the two has practical relevance throughout development. This is developmental process and need to be uniquely assessed. especially so in children with FXS, who are hyper-vigilant and First and foremost, any medical conditions (i.e. obstructive sensitive to environmental stimuli and changes. Loss of sleep sleep apnea, restless leg syndrome) that may be causing can affect virtually all physiological functioning and behavioral inadequate sleep need to be identified and treated. Arriving regulation, including memory and attention, complex thinking, at the root cause of sleep disturbances requires a thorough motor responses, and emotional control. Given that individuals evaluation. Parents should complete at least a one-week sleep with FXS tend to have an already compromised nervous system, diary on their child to determine her quantity and pattern optimum sleep is essential to their functioning. of sleep. Assessment tools such as the Child’s Sleep Habits In a national survey, parents of children with FXS reported Questionnaire (CSHQ) or Pediatric Sleep Questionnaire (PSQ) that 32 percent of their children have current sleep problems also help qualify and quantify the type of sleep disturbances. (Kronk, et al, 2010). Delayed sleep onset and frequent nighttime In a previous study, 34 percent of children with FXS were awakenings were the most highly reported difficulties for all reported to snore loudly (Kronk, Noll, Dahl, 2009). A positive

8 Issue 41 n June 2011 The National Fragile X Foundation Quarterly relationship was found between snoring and clinical levels of includes regularly sleep issues as reported by parents. Obstructive sleep apnea scheduled meal times may be a chronic contributor to sleep problems in some children and activities. Most with FXS. children with FXS Seizures may occur at night and are another medical (most all children, condition that needs to be considered. Children with FXS are actually) benefit from estimated to have an increased risk, ranging from 13-18 percent a consistent schedule, in boys and about 5 percent in girls (Hagerman, et al, 2009). which contributes to Ideally, an overnight sleep study with an accompanying a sense of safety and EEG should be performed to rule out many of these medical security. conditions. However, many children with FXS may not tolerate The key to this procedure. Audio or visual taping of your child during sleep independent sleep may help your medical provider’s assessment of snoring, sleep is to allow a child apnea, teeth grinding, restlessness, and nocturnal seizures. to fall asleep in a Inattention and hyperactivity are common co-occurring drowsy yet awake Calvin (top) and Justin, zzzzzzzzz... conditions in children with FXS (Bailey, Raspa, Olmsted, & state without reliance Holiday, 2008). Since stimulant medications that treat ADHD on parental interventions. Because all children have several brief can also affect sleep onset, the dose and timing of administration arousals nightly, it is essential that they are able to comfort should be included as part of the medical evaluation. themselves independent of outside interventions. A variety of Once a medical condition is treated or ruled out, the first behavioral techniques can assist in this process. They include: line of non-pharmacologic treatment is to improve “sleep n Sleep fading—This is a systematic pull-back to earlier hygiene,” which refers to a set of sleep-related behaviors that bedtimes. It begins by setting bedtime at the child’s current signal to the child that nighttime, with its accompanying sleep sleep onset time, then gradually advancing to the desired expectation, is approaching. Sleep hygiene strategies can work bedtime. For example, if your child naturally succumbs to because cues in the external environment influence our internal sleep at 11:00 p.m. but your desired bedtime is 9:30 p.m., biological rhythms; it is a type of behavior conditioning that begin at the 11:00 slot (and thus avoid 1.5 hours of struggle reduces stimulation and increases relaxation. right off the bat). But then, advance bedtime by a mere The first area of consideration is the sleep environment. 15 minutes every few days, until your desired bedtime is The bed and bedroom should signal certain behaviors. The reached. environment should be used only for the expected behavior of n Graduated extinction—This technique progressively reduces sleep, with no other stimulating activities available such as TV, bedtime checking. You enter your child’s room only on a computer, or video games. Nor should the bedroom be used predetermined time frame to check and reassure. For as a place of discipline or stress—given the opposing forces example, you initially check every five minutes but on of sleep and vigilance, sleep needs to occur in a perceived safe subsequent nights, you extend the time incrementally. environment. Minimal stimulation, unexciting decorations, The key is to give your child opportunities to self-soothe soothing colors, transitional objects, low lights, and white and eliminate your reinforcement of negative behaviors. noise are all possible enhancers to creating a positive sleep This technique helps with both sleep onset delay and environment. Lowering the lights also has a physiological multiple night awakenings. influence by signaling the brain to release melatonin, the n Bedtime passes—A bedtime pass system quantifies the hormone of the night. Conversely, morning light exposure number of times your child is able to get out of bed, thereby decreases melatonin production and has a powerful influence encouraging adherence to sleep routine and promoting on setting the internal clock for the day, thereby resulting in sleep onset. For example, you may give your child two an overall improvement of the 24-hour circadian rhythm. “passes” (like a hall pass in school) that allows him to get Maintaining a regular sleep-wake schedule is the goal. This out of bed only twice. Once the passes are used, your

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The National Fragile X Foundation Quarterly Issue 41 n June 2011 9 focus on Volunteers Linda Sorensen Four Who (Continue to) Step Up Volunteering is the mother’s milk, the lifeblood, the context out of which most every activity of The National Fragile X Foundation flows. Our volunteers are precious and passionate about their involvement, and the foundation would simply cease to exist without them. We thought we’d hear from a few of them about why they do that thing they do.

Linking and Learning Mouse Race Man Anita Inz, LINKS Group Leader, Brooklyn, New York Rich Erker, Fundraiser, Wildwood, Missouri I volunteer because it takes people Our son Ryan was diagnosed with fragile X syndrome on March 2, with a multitude of perspectives 2003, when he was two and half. I will never forget that day. “What and experiences —scientists, the ##*** is Fragile X?” we wanted to shout. We had our little pity educators, clinicians, parents party (why us, why our little Ryan?), and I am not afraid to admit and other family members—and that I cried many nights. That same day, my wife Dawn called the effective communication among NFXF, who referred us to contacts who live only 20 minutes away. them to understand and treat FXS. Their names were Marty and Margaret Israel. Dawn spent 45 By volunteering, I help people minutes on the phone with Marty while I searched the web for info throughout the Fragile X community (while tears ran down both our cheeks). learn from one another. Soon it was on to a support meeting followed by a leadership I have had the incredible opportunity to bring at least one conference, after which Dawn and I both knew we needed to professional to the field of FXS. Many years ago, at a talk I gave do more. Our resource group had many goals, and we all know on Fragile X at a local developmental disabilities council, I met what it takes those happen: hard work, passion and money. So we Laurie Yankowitz, senior director of Family Support Services at started looking at different HeartShare Human Services, a voluntary agency in New York options for a fundraiser. City. As a result of the talk, Laurie was able to recognize FXS in a That’s when Ryan’s client and to modify her approach to him in a way that increased first speech therapist his comfort and participation in the program. I have worked recommended something with her ever since in my capacity as president of the Fragile X called “mouse races.” We Association of New York; together, we provide information and had never heard of such a referrals for services to dozens of families every year. Meanwhile, thing. But we decided to Laurie has gotten a doctorate in special education, specializing in give it a shot. Fragile X. Once you start talking to people you learn that they know Volunteering has also given me the opportunity to shape other people who know other people—and many of them are research by some of the preeminent experts on Fragile X. As the eager to help. It just starts with asking. Our First Annual Mouse leader of one of the two LINKS groups working with our local Races for Fragile X were a huge success. We were blown away by clinic, I maintain close contact with one such expert, Dr. Vicki all the people who came and gave so generously. Now, our group Sudhalter. I have had the benefit of her sage advice too many is working on our 5th annual event. times to count. Vicki, like Laurie, seeks my suggestions as she Having been raised in a family that encouraged volunteering, does her work. Being able to have this kind of input feels like a it was not uncommon for me to help others. But with the FXS far-reaching benefit of my volunteer efforts. diagnosis, the tables were turned and we were the ones needing At 25, my son David lives independently with appropriate help. We are all in this Fragile X family together, and each of us supports and has a full and rich life. I am certain that my is doing our part to make our collective journey special. None of volunteer work has given me opportunities to help make this us would be who we are without the rest of us. Knowing that is dream a reality for him and for many other individuals. I why I volunteer. volunteer because I know I make a difference.

10 Issue 41 n June 2011 The National Fragile X Foundation Quarterly It’s About Relationships Going Local Dr. Gary Bassell, Scientific & Clinical Advisory Joe Garera, LINKS Group Leader, Erlanger, Kentucky Committee Member, Atlanta, Georgia I was asked why I volunteer. Well, I’ve got to blame my genes for I am pleased to serve on the Scientific some of this—volunteering in my family goes back generations. and Clinical Advisory Committee Growing up I often saw my parents and grandparents being (SCAC) of The National Fragile X involved at church, schools, local civic clubs, fire departments Foundation. In this capacity, my and youth sports. As one of five kids we all understood the value main responsibilities are to advise of giving and getting involved. the foundation on research proposals After the diagnosis of our son Nick, we contacted the and priorities, and also speak foundation, which helped get us started on the right track with about research progress at scientific some good material. Realizing that education was crucial, we conferences and fundraising events. sought out the next Fragile X International Conference, held I really don’t view this service in Portland in August 1996. Attending my first conference as “volunteerism” but rather as a professional responsibility to was the most overwhelming and enlightening thing I had ever help support an agency with common interests and objectives. experienced. I left Portland with many things, including some However, it shares qualities with volunteering with respect to great friends and the realization that I (we) are not alone in this the free choice we as scientists have in what to study and how to journey. I also left with a dream of how great it would be to invest our time throughout our careers. bring a smaller conference to our area. The first transformative event in this career choice was my When my dad, an avid golfer, passed away, my family began recruitment to the Rose Kennedy Center for Mental Retardation planning to host a golf outing in his memory. We were unanimous at Albert Einstein College of Medicine in 1998. Later came my on where the money would go: to help Nick and FXS. faculty appointment at Emory University in 2005, which is truly My wife Leslie and I embarked on our first conference a unique environment for collaborative, interdisciplinary research in late 2000. With the help of our families and friends and on Fragile X at all levels. I continue to be motivated by an ever- their support in raising awareness and money through the golf growing group of outstanding scientific colleagues, including outings, the First Cincinnati Area Fragile X Conference became several talented students and postdoctoral fellows working a reality. We have now hosted a total of four conferences tirelessly in our laboratory. I greatly value these relationships. and partnered with a local TV station to host three Fragile X Equally important have been the personal interactions weekend clinics. with individuals and families whose lives have been affected by Everyone we’ve fragile X syndrome. My first direct interaction with individuals touched through these with FXS was at a National Fragile X Foundation conference many activities has in 2002. I was deeply moved by the challenges and personal touched us back many experiences faced by parents on a daily basis. As a parent myself, times over. So, why do the intertwined love and emotional stress that these parents deal I volunteer? I believe with resonated with me. They are supported by the interactions just like most parents, with the scientific community at these NFXF conferences, which we will do as much as offers hope for their future, and we in turn continue to be we can to help our kids. motivated by their support and appreciation. Let me relate a question My own career choice and commitment, including my role I was asked while getting introduced for a presentation at Miami on the SCAC, continues to be motivated by relationships with University. “Joe, what is your title?” “It’s just ‘Dad,’” I replied. fellow scientists and affected families. This has been a rewarding I thank Leslie, Nick and my family for supporting me experience, and I look forward to a promising future. and allowing me the time and energy to be involved with The National Fragile X Foundation. n

The National Fragile X Foundation Quarterly Issue 41 n June 2011 11 FXS n Cover Story By Diane Simon Smith Married…With (Fragile X) Children

O ne of the prevailing fears for a couple when their child has of their individuality and also the a disability is that their marriage will be affected, perhaps even “we-ness” of the relationship; and In the midst of end. In fact, one statistic cited to such couples is that 80 percent 7) are committed to the marriage. the extraordinary of them will be divorced because of the child. When couples tell Children entering the demands of parenting, me this, I let them know that is not my experience, nor can I find relationship present new challenges. getting our children any data to support it. However, it important to recognize that The couple must adapt to their 50 percent of all couples divorce, and that statistic can be higher new roles as parents while also situated, and making when a significant stressor hits the family. trying to stay connected as a living, how can Having a child with a disability is certainly one of those lovers and partners. And when we realistically take stressors—and it is chronic. Regardless of the marriage’s health, one or more of the children has the necessary steps a child with special needs requires fragile X syndrome or any other to make our enormous renegotiation of roles and significant disability, a whole marriages stronger? reordering of priorities for parents. additional set of challenges presents Disability in a child challenges our core itself. Besides dealing with our beliefs about life and its meaning, and individual struggles of parenting a special needs child, we must it challenges our dreams for the future. simultaneously surmount the following challenges with our Other stressors and crises do that, partner if the marriage is to thrive: too—illness, unemployment, natural 1. We need to connect with our spouse even though at times it disaster, or a death in the family. But seems our child’s issues are all-encompassing. Diane Simon Smith disability in a child carries with it 2. We have to accept that our partner may have different particular obstacles that couples must learn to navigate if the emotional reactions to the diagnosis. In our minds, our marriage is to thrive. partner may not be “grieving right.” On the whole, men But first, let’s look at what the experts say constitutes a and women tend to handle their feelings quite differently, “healthy marriage.” In his book, 10 Lessons to Transform and that reality may be challenging for each partner to Your Marriage, Dr. John Gottman, who has made the scientific understand. study of marriage his life’s work, says that “happily married 3. We may have to make adjustments to our marital and couples behave like good friends.” He also says they handle parental roles in a way that feels fair and doesn’t cause their conflicts in “gentle, positive ways.” Note that he does not resentment in either party. This may require occasional say healthy marriages have no conflict, but how that conflict is evaluation and re-adjustment. managed determines the marriage’s success. 4. We have to do our best to retain some gestures of romance so In their book, Married with Special Needs Children, Laura that we can see one another as more than “Mom and Dad.” Marshak and Fran Prezant say that in a healthy marriage, 5. We need to develop a creative vision for the future, despite partners: 1) feel connected through time, affection, and intimacy; the challenges of the present moment. Often the thought of 2) have good communication and conflict resolution skills; 3) the future, which was once the subject of much dreaming have tolerance and respect for each other’s differences; 4) share a together, becomes a scary subject, best avoided. With time, fair distribution of power and responsibilities; 5) feel like a team couples can begin to dream again about their shared vision for and are able to adapt to changing circumstances; 6) have a sense their future (even if that future only extends to next month).

12 Issue 41 n June 2011 The National Fragile X Foundation Quarterly 6. We need to be on the same team. As on any team, each partner has strengths and weaknesses. As a team member, you must strive to complement each other and develop a strategy for getting back on track when correction is needed. So, in the midst of the extraordinary demands of parenting, getting our children situated, and making a living, how can we realistically take the necessary steps to make our marriages n Respect each other’s different ways of dealing with your stronger so that they can “go the child’s disabilities. Through conversation, listen to your distance?” How can we be flexible enough to respond to new partner’s experience of your child, and accept that it may be and changing demands? Here are some suggestions: different from your own. n Plan some time alone together. First and foremost, couples n Accept each other’s strengths and limitations. On a team of need to carve out time that is theirs alone. Of course, this is any kind, there are individuals who excel at one skill and do easier said than done, given the challenges of time, money, not do as well at another. It is important to remember that and finding babysitters. (The latter can be especially difficult we each have limitations that our partners must learn to if there is no family around.) This is the purpose of respite accept. care. Use it to have sacred time for yourselves. You can even n Develop a united front for parenting. A difference in do something small like taking a walk or going to an early parenting styles is a primary source of conflict between movie; it doesn’t have to involve great time or expense. partners. Do not undermine each other’s parenting. Take n Express appreciation sincerely and often. One thing that your discussions and disagreements away from the children. couples consistently tell me in therapy is that they often If you fear your partner is very inappropriate in his or her don’t feel appreciated by one another. Acknowledgement parenting, get help. for the big things is very important, such as: “I really Relationships are a challenge and an opportunity for appreciate how you work so hard to support our family.” growth, under any circumstances. Good relationships require Or: “You do such a wonderful job with the kids.” But showing empathy and taking responsibility. Think about what remember: the little things are important, too. Try stating it is like for your partner to be the parent of a child with fragile something very specific such as: “I really appreciate that X syndrome—and what your partner might need from you both you helped me get the kids’ breakfast this morning.” Try for emotionally and practically. Share these ideas with your spouse. one such acknowledgement each day. (And try not to follow Then imagine your relationship as you would like it to be. up with, “but….”) Decide on the one thing you can do today to move you toward n Share laughter and find humor in everyday things. Children that vision and then take that step to make your reality closer to with FXS can be charming and very funny. There is plenty that vision. n to enjoy about them. So reclaim humor, irony, and laughter if these have been in short supply for you. It is a powerful The author is a licensed marriage and family therapist in weapon against despair and disconnection. Woodland Hills, California, and the mother of two children

n Praise frequently; criticize rarely. Research shows this with special needs. Her son, Andrew, who passed away in 2002 formula is a predictor of marital longevity. Try for a 3:1 at the age of 17, had severe cerebral palsy. Matthew, 23, has ratio to start. fragile X syndrome. She considers her sons to be her teachers. Email: [email protected]

The National Fragile X Foundation Quarterly Issue 41 n June 2011 13 FXS therapy in action With Mouse & Tracy

Doggone It, Mantras Are Great for Learning!! 24th in a series of “Coffee Talk” articles by Occupational Therapist Tracy Stackhouse and Speech Therapist Sarah “Mouse” Scharfenaker.

Y ou may recall the line from Saturday Night Live character and swallowing, and minimizing mouth-stuffing. Mantras can Stuart Smalley, played by the now Senator from Minnesota, Al play a role in the rehearsal and reinforcement of the skill you are Franken: “I’m Good Enough, I’m Smart Enough, and Doggone encouraging. In many cases we have used the following mantras It, People Like Me!” One of the highlights from last year’s successfully: participation in Advocacy Day was seeing Senator Franken n Take a bite, take a bite, take a bite….CHEW! on the Senate floor. While most of our therapy techniques n Take a bite, take a bite, take a bite….DRINK! are sophisticated and learned from professionals rather than n Dip a little, dip a little, put it in your mouth! (This is Saturday Night Live cast members, mantras, like positive particularly helpful for introducing novel foods.) affirmations, really do have power. In our case, we have n Feet together…JUMP! (Used to promote correct motor found mantras to be useful for both skill development and plan for trampoline jumping.) to support self-regulation. n Thumb to the ceiling with my scissors! (Used to promote So, what are mantras? Mantras are short, positive, correct motor plan for holding scissors and cutting.) instructive statements full of action words. We use them to quiet If you’ve ever listened to the Ms. Marnie TV Teacher the mind and focus thinking and action. Of course, there is a videos, you’ll see how she uses short, catchy phrases to reinforce spiritual tradition from which mantras are derived. But we will motor planning skills related to drawing and handwriting. leave that explanation to those wiser than us! Ommm… Sometimes we’ll use a favorite phrase or utterance or silly

Mantras and Skill Development sentence to prime a child’s rhythm for working on timing and generation of verbal speech. Most of us have had a coach or instructor try to assist us in One boy loved barbecues, and we used the phrase, learning a new motor skill. One of the tried and true techniques “I went to a bar b cue, and I had some…….” in skill acquisition is focusing on a particular aspect or subset of the skill. Rather than trying to develop the entire skill in one Of course, everyone’s favorite mantra relates to the early swoop, the teacher emphasizes a discrete part of the skill, then has developing skill of cleaning up (although Mouse’s 25-year- the student practice to achieve mastery. For example, a beginning old is still working to mastery on that): “Clean up, clean up, downhill skier will learn to shift her skis by using the mantra and everybody everywhere!” visualization of “French fry” (skis together to move down the hill) Mantras and Self-Regulation and “pizza pie”(push skis to wedge-shape to slow down). The Mantras are powerful for quieting and focus, and thus lend verbalization and mental imaging drives the motor action, and themselves well to the arena of self-regulation. The common repetition builds confidence and focus. As mastery and ease with experience of talking yourself through a stressful situation the skill develop, the mantra is allowed to fade out. reveals the human tendency to derive comfort from repetitive, Individuals with fragile X syndrome are prone to self-talk focused self-talk. “I can do this, I can do this, I can do this,” and perseveration, so in a significant way, teaching them to use you say, as you step from the plane and open your eyes to cast constructive mantras harnesses their natural tendency to narrate a last glance over your shoulder to make sure your instructor A common skill we have to foster in their lives. Some examples: remembered to secure your parachute. children and adults with FXS is eating normal size bites, chewing

14 Issue 41 n June 2011 The National Fragile X Foundation Quarterly The common As therapists, we realize the power of focusing on the experience of with: “What’s wrong, what can I precise quality that can promote the shift that is desired. Often talking yourself do, and now do it!” the phrase that comes to a person naturally may be too negative Besides pairing mantras with a through a stressful to be effective. For example, we have a boy we work with gesture, we often couple them with who repeats over and over, “Shut up, I hate you…I’m sorry!” situation reveals a visual to better facilitate learning. Sometimes letting him vent with this phrase can be helpful, but the human tendency For example, a two-sided card with more often he becomes stuck in this negative space and attitude. to derive comfort a green or red circle on either side, Working with him to shift this to something more positive and from repetitive, paired with “Ready...not ready” is empowering such as “I need some space…that’s better” allowed focused self-talk. a basic self-regulation support that him to express the source of his negative affect. is visual and “mantra-ized.” We With another young man, being precise about what needed might have a “Take a break” card, to be regulated was effective. His mantra was, “I am the boss a stop sign, a breath sign, or an individual-being-the-boss-of- of my hands, I am the boss of my feet.” These were encouraged their-hands photograph to pair visuals with mantras. when he would impulsively run or grab or throw. Some other Finally, as therapists, we are sensitive to varying degrees of examples of self-regulatory mantras are when we use a phrase to cognitive understanding and verbal expression, and find we can target “stopping,” a self-regulation capacity that is often difficult easily adjust the cues and method of accessing the mantra as for individuals with FXS. needed. “Stop… take a breath” and “Stop….think…..now do” or Mantras can play a role in anyone’s learning. So choose “Think it, say it, do it” are all examples of how we would work your favorite and adopt it! And our thanks to Stuart Smalley for on inhibition and impulse control. These are often paired with a empowering us. As we started our writing process for this article gesture, since the verbal and nonverbal combination can be very we adapted one of his favorites that started us off here: “We’re effective. For example, with “Think it, say it, do it,” we pair a gonna help people! Because we’re good enough, we’re smart point gesture to the head, the mouth, then the body, and find enough, and, doggone it, people like us!” n that sometimes we can fade the verbal to just the gesture, which Tracy Stackhouse, MA, OTR and Sarah “Mouse” Scharfenaker, teachers can often incorporate in classrooms. The “Five Finger” MA, CCC-SLP, are co-founders and directors of the approach that we have discussed previously is a gesture/mantra Developmental & Fragile X Resource Centre in Denver, C0. self-regulation cueing system. The individual first grabs the Email: [email protected], and thumb and says, “Stop,” followed by holding the index finger [email protected] and saying, “Take a breath.” The final three fingers are paired

Write for the Fragile X Quarterly! Finding yourself telling tales over your coffee cup about your kids and other family members living with Fragile X? Are you reflecting in a private journal or on a social media site like My.FragileX.org about your experiences as a parent of a child with FXS, or as a son or daughter of a parent with FXTAS or FXPOI? Please consider sharing those thoughts for the benefit of readers in the wider Fragile X community. Fragile X Quarterly editors always welcome and work with writers, from professionals to absolute beginners, who wish to explore the many dimensions of life in the Fragile X world. Writing opportunities include: • Parents’ Forum • Letter to the Editor • In Their Own Words • Something more wide-ranging still!

No ideas or tales are too small or large. Send submissions or discuss your ideas with: [email protected]. Thank you!

The National Fragile X Foundation Quarterly Issue 41 n June 2011 15 By Andrew Hidas mGluR5: A Primer

This is the second in a series of Q&A’s focused on better understanding the basic science and importance of terms frequently appearing in Fragile X research. Interview subject Ted Brown is one of those accomplished souls who seem to be not all that rare in the Fragile X research community: a “doctor doctor,” or holder of both MD and PhD degrees. As medical director of the Fragile X Clinic at the Institute for Basic Research on Developmental Disabilities (IBR) on Staten Island, New York, and Principal Investigator on the CDC grant supporting the Fragile X Clinical & Research Consortium, Brown is at the forefront of multiple collaborative efforts to research the causes, treatments, and possible cures for Fragile X, in addition to ongoing research on the related condition of autism. A native of Montana (where he was state chess champion as a youth, a fact he does not readily share), he now lives on Staten Island with wife Donna, a speech therapist for children with autism. They met at a Fragile X conference in Australia in 1985 while she was working in Denver with NFXF founder Dr. Randi Hagerman. The couple has two young adult children.

Anyone keeping up with Fragile X research literature study from Novartis involved a small sample of 30 subjects in in recent years comes across the term “mGluR5” Europe. Partially blocking the glutamic acid seemed to improve with increasing regularity. Can you give us a sense of the behavior of children with FXS. All the subjects who had the what it means and why it’s important? full mutation improved clinically. Those with just a partially Researchers studying the chemistry of the brain have made some methylated mutation didn’t seem to be helped as much. This discoveries we’re coming to believe are largely responsible for was curious—we’re not sure why it would be. Obviously, more most of the behavioral problems seen in boys and girls with research is needed on this. fragile X syndrome. The generally Why is there too much glutamate? accepted idea based on this The discovery and sequencing of the “Fragile X gene” (scientific research, which began with the The basic problem term: Fragile X Mental Retardation 1,” or “FMR1”) in 1991 work of Dr. Mark Bear’s group at in Fragile X is the by Drs. Warren, Nelson, Oostra, Mandel, and Sutherland’s labs MIT and was published in 2002, lack of FMRP. showed that it plays a central role in typical brain development. is that FXS involves a problem So if we’re to cure That gene is “broken” or “fragile” in those with FXS, so it doesn’t with glutamic acid. Glutamic acid produce enough of a key protein known as the Fragile X Mental the syndrome, is one of 22 amino acids in the Retardation Protein (FMRP). This lack creates a chemical reaction it would mean human body. Amino acids are the that allows glutamic acid to run wild. It’s a complicated piece of replacing that protein. basic building blocks that form chemistry. protein in every cell. Glutamic acid is an excitatory chemical, meaning Are we looking at the many drugs currently being it excites the cell it’s released on. When an electrical signal goes studied as a possible cure for FXS, or are they more down the nerve, it stimulates a second nerve to be either excited for symptom amelioration? or inhibited. It causes or prevents the other nerve from expressing The basic problem in FXS is the lack of FMRP. So if we’re to cure a signal. The research on mice suggests that there is an over- the syndrome, it would mean replacing that protein. We’re not reaction to glutamic acid in those with FXS, which causes too there yet. The drugs we’re studying address the problem of excess much stimulation in the brain. So one of the ideas being studied glutamate. So it’s addressing part of the problem, but it’s not a is to partially block the glutamic acid and thus inhibit the highly cure. excitable behavior we see in FXS. This approach has been quite What would lead toward a cure? successful in mice. This targeted approach to therapy has caused a The ideal would be to use genetic engineering to replace the lot of excitement in the medical community. Fragile X gene chemically in those people where it is broken and How does the glutamic acid get blocked? effectively turned off or “methylated.” That would allow it to There are several ways, but chief among them are various drugs, re-express itself or become “unmethylated,” which is its typical some of them now in phase II clinical trials. One published state. If we could do that, we might have a chance for a cure.

16 Issue 41 n June 2011 The National Fragile X Foundation Quarterly Are there studies underway along those lines? Yes, there are plans to increase studies, but we’re in the very early stages. We need a lot more experience than we have now. Given the importance developmental psychologists place on human beings hitting key developmental milestones at certain ages, would an eventual cure focused on re-expression of the gene help older children and adults with fragile X syndrome? It’s hard to say, but studies done with mice didn’t show age to be a major factor. It’s possible it could be like curing deafness at 12 years old—one can still learn a lot, even having missed out on so much in earlier life. Let’s get back to defining mGluR5. We’ve covered the “glu” for “glutamate,” but what do “M” and “R5” signify? “M” stands for “metabotropic,” which means it involves an internal metabolic pathway. R5 signifies the 5th one, which turns out to be the main one out of 8. So taken as a whole, mGluR5 Dr. Ted Brown is part of a growing contingent of scientists in various academic and research settings around the world who continue to build refers to a protein that is the 5th receptor of the metabolic type for upon each other’s work in determining the causes, treatments, and quest glutamic acid. for an eventual cure for Fragile X-associated Disorders. Do all mammals have mGluR5? It seems rather miraculous they go right as often Yes. Not only mammals, either. We see it in fruit flies and worms, as they do. too. The basic chemical system that builds and sustains life Yes, human life is pretty much miraculous, in the fact that we evolved very early, so we still see it in primitive life forms. We can have evolved to this point. We have approximately 25,000 genes, watch plants in seabeds just sitting there doing nothing, but their of which some 60 to 70 percent are expressed in the brain. Genes nervous system transmitters and receptors are functional very have to be expressed in just the right order in thousands of ways, much like ours, so they are capable of sensing and then pulling a and if they’re not, it causes disruption in normal neural activity. passing organism in to feed themselves. This is based on simple The Fragile X protein appears to be very important for nervous nervous activity, but it requires a lot of things to function correctly. system function, because it modulates the expression of other genes. If 25,000 genes are being expressed, we know that about We can assume human nervous systems are a bit 5 percent, or 1,250 genes, are under the control of the Fragile X more complicated? gene. That amounts to a significant impact on neural activity. The central nervous system has billions of nerve cells, connecting the activities from all parts of our body. It consists of the brain and Sounds like there’s lots of buzz among scientists in spinal cord. When we want to wiggle a toe, an electrical impulse the Fragile X field. goes from our brain along the spinal cord down through our leg Yes, plenty of excitement. There is a lot of basic research underway, and then to the toe. It’s highly organized and complex, but most too, about what happens when the Fragile X protein is not expressed, nervous activity takes place beneath our awareness. Obviously, no what’s going on mechanistically in the cell, because there might be one is aware of the glutamic acid activity that causes nerve cells to other targets we can reach besides just glutamic acid. We’re at a point express over-enthusiastically. This is just how we are made, and where targeted drugs might make a real difference in people with most of the time, everything functions in a way that can sustain fragile X syndrome, helping them to live richer lives. n life. And sometimes, things go wrong. The author has edited the Fragile X Quarterly since 2004. Email: [email protected]

The National Fragile X Foundation Quarterly Issue 41 n June 2011 17 By Serena Lowe Employment First! NFXF Joins Growing Chorus on Job Rights for People With Disabilities

Public policy aimed at promoting optimal independence and VALUE FRAMEWORK empowerment of individuals with fragile X syndrome and other CPSD presumes competence in all people with significant intellectual and developmental disabilities (I/DD) is of growing disabilities to work and live independently in integrated settings concern nationally. The topic engendered much dialogue at and to meaningfully engage and contribute to their communities. The National Fragile X Foundation’s International Conference Furthermore, the CPSD has argued that publicly-financed last summer, and it is continuing in the wake of Rep. Gregg resources that support these individuals should be sharply Harper’s (R-MS) introduction of a focused on helping them become self-sufficient, productive federal legislative package in February members of society, working and living alongside their typical known as TEAM (“Transition peers and compensated at competitive wages and benefits. toward Excellence, Achievement and To accomplish this, there must be a clear focus in public Mobility”). policy and resources that affirms these high expectations. Only As an ardent supporter of this then can individuals advance economically by generating income legislation by Fragile X champion and building an asset base. Systems-change must also ensure Harper, the NFXF has worked closely continued access to long-term supports for those who have with the Collaboration to Promote successfully achieved partial self-sufficiency but still require Serena Lowe Self-Determination (CPSD), an some assistance to offset the tremendous costs related to their advocacy network deeply involved in the disability rights field disability. (See sidebar for the CPSD’s full value framework.) that the NFXF itself helped to organize. This article will clarify GOALS the goals of the CPSD and address questions around several The CPSD’s goals include: public policy reforms currently being considered by the federal n Creating a national dialogue on the need for policy government. innovation and reform toward empowering youth and CPSD BACKGROUND adults living with complex I/DD who require significant The CPSD was launched in 2007 by the Autism Society of support;

America, the National Down Syndrome Society, and The n Eliminating barriers and increasing opportunities for the National Fragile X Foundation. These organizations came I/DD community through comprehensive federal legislation together in response to a growing demand from families across and regulatory reforms; the country who were concerned that their children with I/DD n Identifying opportunities at the state level for effective lacked opportunities to work, earn a livable wage, and engage in implementation of these public policy reforms; the community after entering adulthood. Today, the CPSD has n Providing opportunities for individuals to meaningfully 15 national organization members and over 100 subject-matter partake of education, employment, social interaction, and experts serving on its senior advisory board. community involvement;

The CPSD is committed to innovative public policy reform n Eliminating obstacles and creating incentives to empower that will elevate America’s consciousness of people living with individuals to live and work in integrated settings, generate I/DD and help ensure their rights to pursue lives of optimal income, and save for their future; independence in integrated communities. The vision of the n Customizing public supports based on the unique needs of CPSD is that every youth and adult living with I/DD has the individuals throughout their lifespan. opportunity, encouragement, and support required to lead an In order to accomplish these goals, the CPSD focuses on the independent, productive life. following strategies:

18 Issue 41 n June 2011 The National Fragile X Foundation Quarterly CPSD presumes 1. Advocating for individuals with I/DD to work and save competence in The wages of the employees with money without jeopardizing needed publicly-funded all people with disabilities are then adjusted based supports. This can be accomplished through the elimination significant disabilities on their level of productivity as of asset and income limits that determine eligibility for state compared to typical employees. to work and live and federal entitlement programs such as Social Security There are differences of opinion and Medicaid. independently in even in the disability community 2. Advocating for an “Employment First” agenda that integrated settings regarding subminimum wage supports competitive, integrated employment as the and to meaningfully employment. Some feel that such preferred outcome for all people with significant disabilities, engage and laws are no longer necessary and and requires state and federal systems to fully align contribute to their are not consistent with prevailing practices toward this outcome. communities. values. Others are concerned that 3. Campaigning for broad systemic reform that results in the loss of an employer’s ability improved coordination of services for the I/DD population, to adjust wages to performance along with the blending of government-provided resources will increase the likelihood that those with the most significant that will promote coherent, individualized, person-centered disabilities will not have any employment opportunities and will planning and self-direction of resources. be forced into non-work day programs, or even out of programs NFXF ROLE entirely. Many on both sides of the discussion acknowledge the The National Fragile X Foundation is committed to ensuring historically inconsistent and ineffective oversight of the system, that the policy agenda of the CPSD is well-informed by the which has led to abuse and exploitation of the subminimum experiences, knowledge and expertise of individuals and families wage system. who are living with fragile X syndrome. As such, the foundation The CPSD’s position is simple: we support a presumption wants to hear from the Fragile X community. We encourage you of employability at competitive wages for all workers with to share your thoughts via email to [email protected]. disabilities. This presumption should serve as the baseline The pathway to reform is a long and winding road that will expectation in our society, rather than beginning from a require consistent, thoughtful engagement of and feedback from presumption that workers with I/DD will, by virtue of their the Fragile X community. The NFXF is committed to advocating disability, require a subminimum wage structure. The reality is for progressive reforms, while also ensuring that the rights and that many individuals with significant disabilities are experiencing choices of individuals and their families affected by Fragile X are success in the general labor market, earning competitive wages protected. and benefits—along with praise from their employers and colleagues. As such, CPSD believes publicly-financed services ADDRESSING CONCERNS should be redirected so as to exhaust all efforts to get a person Various questions have been raised about the ramifications of gainfully employed in the workforce before sheltered employment the far-reaching public policy reforms that the CPSD and NFXF and subminimum wages are even discussed. are seeking. Let us address three of the central questions here. What is needed is a balanced approach to gradually 1. Will implementing an Employment First policy result in the phase out and then eventually eliminate FLSA subminimum immediate elimination of subminimum wage practices and wage provisions for all individuals (regardless of ability), but sheltered employment for individuals with I/DD? only while simultaneously building the capacity to support No. Subminimum wage is a wage paid below the minimum individuals with significant disabilities in integrated employment wage set by the Fair Labor Standards Act (FLSA). It is based paid at or above the prevailing minimum wage. This, and a on a worker’s compromised productivity due to a physical or larger set of reform strategies that will be discussed in future mental disability. Employers who pay subminimum wages must articles, is the crux of Employment First. The goal is a systematic first obtain a certificate from the U.S. Department of Labor. reduction in the use of subminimum wage practices, but not They must assess the skills and productivity of their employees their immediate elimination, so as not to harm workers currently with disabilities compared to employees without disabilities. relying on such wages under the current approach. continued on following page 

The National Fragile X Foundation Quarterly Issue 41 n June 2011 19 CORE VALUES GUIDING PRINCIPLES

EQUALITY Lack of personal control or autonomy, deprivation of Personal autonomy, access, accountability, and responsibility over one’s life human dignity, segregation and abuse (including decision-making processes, including control over publicly-funded and personal seclusion and restraint) should not be experienced by any resources required to support an individual in their personal needs and pursuits, population or tolerated by our society for any reason. result in better outcomes for the individual and society.

CHOICE A fundamental commitment is to discover and honor The current system has built-in institutional biases that support segregated outcomes, individual choice. Living and employment options that thus limiting the ability of individuals to fully actualize or pursue their own goals or foster a “separate but equal” scenario or that promote motivations, and restricts their quality of opportunity. exclusion in mainstream society do not foster true individual choice or empowerment.

COMPETENCE Competence should be presumed in all individuals, and Public systems with high performance outcomes that meet individualized support public policy should presume the highest expectations on needs result in a decreased reliance on public supports and financing over the long both the system and individuals. term. These supports include assisting individuals to maintain meaningful employment in an integrated setting, earn a sufficient income, generate assets, live independently, forge strong communal relationships in inclusive settings, and attain optimal self-sufficiency.

COMMUNITY The provision of supports should be measured as to how Individuals with disabilities are chronically underrepresented in all aspects of society, proximate a person’s life in the community is to peers and as a result their quality of life (in terms of employment, wealth, and health without disabilities. indicators) is significantly lower than any other subpopulation in the U.S. (stratified across race, age, and gender).

HOME Everyone deserves a home, not a home-like setting. People with numerous social relationships have healthier outcomes and are less likely to be abused.

WORK Working-age individuals with disabilities should be Work should not be optional for individuals who are capable of working and rely on supported to pursue a working lifestyle. public assistance for sustainability. It should be presumed that individuals with disabilities want to work. A well-compensated and well-trained workforce is critical to providing supports.

DIGNITY OF RISK Future systems of supports and service delivery should break The nature of cognitive impairments associated with a I/DD makes those living with away from the paternalistic cycle of the past and instead such disabilities particularly vulnerable to the prejudices of external stakeholders, promote and respect the dignity of risk. which impedes their ability to make informed choices based on personal desires rather than external influences and pressures. Families (of biology or of choice) of adults living with I/DD are an important component in considering supports.

EQUITY All people with disabilities should receive public resources Systems should be prohibited from keeping certain subpopulations from resources based upon individual support needs. Assistance should help that would allow them to strive for, attain and achieve personal objectives related them achieve inclusive education, integrated employment, and to increasing their self-sufficiency, independence, and economic progress in independent living within typical community settings. integrated settings.

20 Issue 41 n June 2011 The National Fragile X Foundation Quarterly Employment First! ...continued from previous page

2. Will individuals with complex I/DD conditions such as FXS have the in sheltered employment, non-work programs, or training knowledge and capacity to compete and be productive at standards programs with the goal of eventual competitive or supported expected in the general workforce? employment. With the needed supports, yes. We are now more than a quarter Over the years, services provided in group settings and center- century into a disability rights movement that has definitively shown based programs have led to far fewer instances of integrated that with appropriate supports, individuals with disabilities can employment. Wages in these segregated settings are also far below achieve far more than the low expectations placed on them by our rates for typical employees (and are often without benefits). The society and publicly-financed systems would suggest. A key objective changes proposed in an Employment First system will not be easy of Employment First policies is to address the current imbalance and will not take place overnight, but unless the current system is forced to change, individuals with FX and other I/DD will never begin to realize their full potential and place in society. 3. Does the CPSD and its Employment First agenda fully take into account what is happening in states and local communities, and the needs of employers of individuals with the most significant disabilities? Yes. The CPSD is guided by a senior advisory board of more than 100 national opinion leaders whose professional and personal lives are dedicated to providing technical assistance, employment supports and research/policy guidance to facilitate the effective transition and integrated employment of individuals with significant disabilities. Additionally, the CPSD’s partner organizations include national trade associations representing every aspect of state I/DD networks, including the state directors of developmental disabilities services, university centers of excellence on developmental disabilities, protection and advocacy units, and state councils on of federal funds that are being invested in services that continue to developmental disabilities. Moreover, the CPSD is comprised of presume low expectations among individuals with disabilities and member organizations that represent the families of individuals with further perpetuates their segregation from the economic mainstream. I/DD, along with self-advocates who are fully capable and should be A rebalancing means that existing expenditures must be used to actively engaged and advocating on their own behalf. support a system that presumes high expectations and competitive Finally, the CPSD is guided by established national trends, a employability. Without sweeping systemic change and a rebalancing growing body of data, and many testimonials that help sharpen of the way federal and state support dollars are spent, nothing will its focus on bringing promising practices to a national scale. The ever change. Consider: collaboration does not propose an independent agenda, but rather, n State Medicaid programs spend four times more federal a set of the best and most progressive ideas to promote self- money on segregated adult day programs (day habilitation and determination and fully integrated, productive lives for all those sheltered work) than on supported employment ($488 million living with FXS and other complex I/DD. n vs. $108 millioni).

n Recent data suggests only an estimated 20 percent of individuals The author is president of AnereS Strategies, a Washington D.C. receiving day supports from state disability agencies participate consulting firm, serves as executive director of the CPSD, and in integrated employment.ii The vast majority of persons served served as a public policy advisor to the NFXF and its government through the community rehabilitation provider system are affairs team for more than 10 years. Email: [email protected] i. Butterworth, J., Smith, F., Hall, A.C., Migliore, A., Winsor, J. State Data: The National Report on Employment Services and Outcomes. Institute for Community Inclusion, University of Massachusetts Boston (2008). Available at: http://www.communityinclusion.org/article.php?articleid=250 ii. Butterworth, J., et al.

The National Fragile X Foundation Quarterly Issue 41 n June 2011 21 focus on ‘fun’draising Meghan McMurray

Spring Fragile X Fundraising Fun

A lthough the early months of the year “Friends for Tommy” Inaugural Bowl—Batavia, IL brought chilly winter weather, NFXF Like most parents in such circumstances, Alicia and Matt Brooks supporters ran, biked, and bowled their didn’t know where to turn when they received an FXS diagnosis way to raising money and awareness for Fragile X! Meanwhile, for their son Tommy. Two years later, after having met many back at foundation headquarters we enjoyed overwhelming families in their local community and beyond through the NFXF, success with our first-ever direct mail campaign in support of they held their inaugural Fragile X Bowling Party. With cautious Advocacy Day. As Fragile X friends and family marched to expectations, they set a goal of filling 16 lanes, hoping to have Washington D.C. for the eighth year in a row, many donors 70–80 bowlers. One week after invitations were sent, they had showed their support from home by contributing to a collective to call the bowling alley to see if they could accommodate over $27,000! Without this vital investment from our donors and 180 people! They were overwhelmed by the support from family, advocates, we could not continue our year-round advocacy neighbors, school friends, sports teams and wonderful members efforts that have led to the steadily increasing federal funding of the community that wanted to support Fragile X. for Fragile X. Thank you! Raising Green in the Desert—Scottsdale, AZ For the third year in a row, friends gathered at the Troon Country Club to raise money for the NFXF, courtesy of event organizers and hosts Joan and Jay Canel and Irv and Judy Gross. Guests were welcomed with a heartfelt message from Judy, after which Executive Director Robby Miller updated the crowd on the Fragile X Clinical and Research Consortium. Robby then introduced Dr. Robin Blitz, a developmental-behavioral pediatrician at Phoenix Children’s Hospital. Dr. Blitz announced plans to open a Fragile X clinic in Arizona and discussed the progress towards achieving that goal in 2011. Parents Matt and Alicia Brooks, Grandparents John and Joanne Salemi with Tommy, Uncle “D,” sister Isabella, cousins Sophie, The afternoon included the opportunity for guests to bid J.D. and Taylor, and Auntie Stacey. on a wide array of auction items ranging from gift certificates to local artwork graciously donated by local businesses and The group took over the entire bowling alley and the lanes artists. It concluded with lively card games. Many thanks go out were filled with bowlers of all ages. When kids were not bowling to the Joan-Jay-Judy-Irv team for their hard work on another they were entertained by a professional face painter who painted successful event! favorite animals, insects and even green smiley faces to match the cookies handed out for Fragile X awareness. The day concluded Valbella Wine Tasting—New York, New York with Tommy selecting the raffle tickets, and winners walked On March 7 Paul Cappiali, a friend of NFXF board member away with an iPod touch, a night’s stay at a 4-star hotel and David Justus, organized a wine tasting fundraiser in New York spa, interior home painting services, a bowling party and even City. The owner of Valbella restaurant provided space, food, and gourmet pastries and candies. All the bowlers had a great time service and helped attract patrons. The event provided a fantastic and wanted to know when the next event will be held. Many opportunity to raise awareness of Fragile X, and a portion of the thanks go out to all our friends for Tommy! proceeds were donated to the NFXF.

22 Issue 41 n June 2011 The National Fragile X Foundation Quarterly Trustees Circle The NFXF would like to recognize each member of the Trustees Circle. By committing to financial support of the foundation at a $1,200 or higher annual level, trustees ensure the long-term health and vitality of the organization. The sustained investments from our trustees are crucial to continuing the important work the Sione and Filipe Fa with two Anytime Fitness Bootcamp participants. NFXF provides for all families touched by Fragile X. n

Challenge X—Prescott Valley, AZ Eileen & Marty Aronovitch Rose & Scott Jahnke On January 29, Anytime Fitness Prescott Valley hosted its second Pam & Don Bailey, PhD Tricia & Joe Judge Dean & Elizabeth Berry-Kravis David & Joy Justus Challenge X Bootcamp to raise money for the NFXF. Under Al & Melissa Blount Stephen & Shirley Kaufman the guidance of Season 7 Biggest Loser contestants, participants Marcia Braden & Ken Wood Lisa & Michael Kelley Jay & Joan Canel Manus Kraff, MD revved up their workout regimens by pushing through a six- Scott & Lynda Canel Deborah & John Kwan, DDS hour boot camp. The event has grown in popularity since the Jerad & Julie Chao Marty & Terri Lang first Challenge X was held in July 2010. Anytime Fitness owner Joey Christoff & Tom & Peggy Lang Catherine Frey-Christoff Kim Miller Leanne Shearer plans to turn it into a semi-annual event—with Jeffrey & Arlene Cohen Michael & Marilyn Morgan proceeds continuing to benefit Fragile X! Carey & Cheryl Kraff Cooper, MD Paul & Teresa Mulhausen Phillip & Sandra Cooper David L. Nelson, PhD Jackson Laughs Race to Benefit the NFXF—Kent, OH Ted & Mary Beth Coutilish/Langan Bobbi Newman Richard & Rosalee Davison Janice Olsen When Fragile X parents Mark & Bonnie Dissette John & Tracey Petrides, MD Ben and Natalie Koberna Jonathan & Mara Dorff J.C. & Viviana Planas Peter & Kari Espinosa Phil & Barbara Porterfield committed to holding a Ira & Rebecca Fishman Tricia & Don Price fundraiser in honor of their Mark & Caryn Gershenson Katherine & Markus Roeders son Jackson, they decided John & Madelyn Gibbs Robert & Sher Rosenfeld Todd & Marcia Grayson Andrew & Tammy Selinger to organize a race to attract Mark & Marla Gruzin Mary & Roger Seward local runners. Months of Randi Hagerman, MD & Phyllis & Herbert Siegel Paul Hagerman MD, PhD Kimball & Jennifer Silverton planning led up to the April John Harrigan & Debra Skinner 9 event, which was held at Stephanie Jacob Diane & Gifford Smith Kent State University’s Dix Gail & Stephen Harris-Schmidt Russ & Linda Strand Race organizer Ben Koberna and Kevin & Melanie Heineman Robert & Ruth Strudler Stadium. Some 120 runners his son Jackson. Nancy & Paul Heisel Carolyn & John Tomberlin showed up on the cold and Gail & Lyons Heyman Rosa & Angel Vega Anita & Richard Inz Sherri & Brad Whitus cloudy race day to participate in the 5K, 25K, or 1-mile fun run. Margaret & Martin Israel NFXF Board Member and Fragile X researcher Dr. Elizabeth Berry-Kravis was there to run the 25K—and finished third in her Help Us Celebrate age group! All 25K participants received Tek Ts, and 5K runners received commemorative pint glasses. National Fragile X Awareness Day! Immediately following the race, an awards and after-party was Send us a photo of your child doing one of the 1,001 things hosted at the Rusty Nail bar. Dr. Kravis and Robby Miller concluded our children do that show them as the delightful, rounded, the day’s events with speeches to educate the crowd about Fragile X always interesting and self-determined individuals they are! and the NFXF. The Kobernas hope to hold the event again next year Then write a note about it to share with the Fragile X and would like to thank participants, friends, and family who made community. Just go to: FragileX.org/awareness/2011 the race possible. n ...and follow the directions to help show the world your The author is the development coordinator for the NFXF. For child, just like all children, is more—always more—than the more about organizing or supporting fundraising activities, sum of any labels or diagnoses we can possibly give them. contact her at [email protected].

The National Fragile X Foundation Quarterly Issue 41 n June 2011 23 Five New Members Come “A-Board”

J ust as every flower adds new dimension to a bouquet, new Kimberly Miller has worked in the people joining the various boards and committees that support development field for more than 15 the work of The National Fragile X Foundation help ensure that years with a variety of nonprofit fresh inputs, skills and perspectives are constantly enhancing the organizations. She lives in Roswell, foundation’s work. Below are brief capsules of new NFXF board Georgia, with son, Andrew, 10, and daughter Maddie, 8. After Andrew was members who have joined over the past year. More information diagnosed with FXS at age 4 (Maddie about them and continuing board members can be found at is unaffected), she immediately called http://www.fragilex.org/html/foundation.htm. the NFXF and talked with Executive Director Robert Miller (no relation). Ted Coutilish lives in Grosse Pointe, Thus began the building of multiple relationships that quickly Michigan with his wife, Mary Beth led her to serve in several key roles at the International Fragile X Langan, and son, Andrew, 10, who Conference in Atlanta in 2006. Appointments to become an FX was diagnosed with FXS at age 21 Association of Georgia LINKS leader and co-chair of the NFXF months in October 2002. The family Board Development Committee soon followed. subsequently discovered that Mary JC Planas served in the Florida State Beth has FXPOI and her dad, Jack House of Representatives from 2002 Langan, has FXTAS. Ted has been to 2010. He first became aware of active in the Fragile X Association Fragile X when his cousin William of Michigan and the NFXF in assisting with marketing and was diagnosed in 2004. That event communications needs while also serving as associate vice became the catalyst for his family’s president of marketing at Eastern Michigan University. He continuing commitment to raise co-writes a column in The Grosse Pointe News with Mary Beth awareness and participate whenever entitled “X-tra Special Advice,” for parents of children with possible in Fragile X-related events. special needs. While a legislator, he was instrumental in helping to secure start-up funding for the Fragile X Clinic at the University of Miami, and has participated in three Advocacy Dave Justus is the chief financial officer Days in Washington D.C. He hopes to start a similar Advocacy for a technology company in Orange Day effort in Florida. County, California, where he resides with his wife Joy and two sons: 5-year- Jennifer Silverton shares two old Jackson, who is unaffected, and “tween-age” children with her husband 2-year-old Tyler, who was diagnosed Kimball at their home in Grand Blanc, with fragile X syndrome in 2010. No Michigan. Her son, Aidan, 13, was diagnosed with fragile X syndrome one in either of the extended families at age 2 ½, while daughter Camryn, had ever heard of FXS prior to then. 11, is unaffected. After graduating One month later, Joy’s father was diagnosed with FXTAS. Dave from Michigan State University with consented readily to joining the board after experiencing the a degree in journalism, she spent 12 overwhelming support services made available to his family years as a television news reporter with through the existence of the NFXF. national network affiliates in Michigan and later worked on an entertainment show in Los Angeles. She serves on the NFXF Communications Committee, among many other foundation activities.

24 Issue 41 n June 2011 The National Fragile X Foundation Quarterly Sleep...... continued from page 9

child has a visual, transactional reinforcer that encourages There is a dynamic interplay between sleep in the individual him to stay with the program. with FXS, biology and the environment. The underlying These techniques have been successful in children with cause/s of sleep problems require a thorough evaluation to rule typical development as well as those with special needs. While out medical factors and then to assess individual behaviors generally not a quick fix, they can be a lasting fix. and environmental factors, all with the goal of assuring the Behavior techniques may be used independently or in development of healthy patterns for this most elemental and conjunction with medications. However, there are no FDA- restorative human activity. n approved medications to treat sleep insomnia in children. The author is an assistant professor of nursing at Duquesne Melatonin, considered a nutritional supplement, is widely used University and clinical assistant professor of pediatrics at the in treating sleep onset issues and has shown efficacy in studies Children’s Hospital of Pittsburgh of UPMC, Child Development with small samples of children with intellectual disabilities and Unit/Fragile X Center. Email: [email protected] autism spectrum disorders.

Additional resources: 1. Bailey DB Jr, Raspa M, Olmsted M, Holiday DB (2008). Co-occurring conditions associated with FMR1 gene variations: Findings from a national parent survey. Am J Med Genet 146A: 2060-9. 2. Hagerman, R., Berry-Kravis, E., Kaufmann, W., Ono, M., Tartaglia, N., Lachiewicx, A., et.al. (2009). Advances in the treatment of Fragile X syndrome. Pediatrics 123, 378-390. 3. Kronk, R., Bishop, E., Raspa, M., Bickel, J., Mandel, D., Bailey, D., (2010) Prevalence, Nature, and Correlates of Sleep Problems in Fragile X Syndrome Based on a Large Scale Parent Survey. SLEEP, 33, pp 679-87. 4. Kronk, R, Noll. R., Dahl, R (2009). Caregiver reports of sleep problems on a convenience sample of children with fragile X syndrome. American Journal on Intellectual and Developmental Disabilities 114, pp 383-392. 5. Mindell, J. & Owens, J.(2010). A Clinical Guide to Pediatric Sleep: Diagnosis and Management of Sleep Problems. Wolters Kluwer/Lippincott, Williams and Wilkins. 6. NIH Curriculum Supplement Series. Sleep, sleep disorders, and biological rhythm. http://science.education.nih.gov/supplements/nih3/sleep/sleep/guide/info-sleep.htm 7. Weiskop S, Richdale A, Matthews J (2005). Behavioral treatment to reduce sleep problems in children with autism or fragile x syndrome. Dev Med Child Neurol 47:94-104. 8. Wirojanan J, Jacquemont S, Diaz R, et al (2009). The efficacy of melatonin for sleep problems in children with autism, fragile x syndrome, or autism and fragile X syndrome.J Clin Sleep Med 5:145-50.

It’s Time to TEAM Up for Our Kids ...continued from page 3

would also promote innovation and accountability through congressmember—or better yet, visit the district office—and ask demonstration grants aimed at implementing reform him or her to become a co-sponsor. You can also send an email strategies. requesting co-sponsorship at http://www.congressweb.com/cweb2/

n The TEAM-Empowerment Act (H.R. 604) would index.cfm/siteid/nfxf. For those of you who attended Advocacy amend the Developmental Disabilities Act to establish Day in March, now is a good time to follow up with your Transition Planning and Service Divisions within the congressmember (again) and remind him or her there are voters in State Developmental Disability Authorities, as well as the district who are very interested in this exciting legislation. Individual Transition Plans to advance best outcomes On the subject of Advocacy Day 2011, I would be remiss and self-determination. Additionally, the bill would if I did not again thank all of our 140 advocates for yet another increase accountability of these authorities by providing awe-inspiring march on Washington. We had a record crowd of the Secretary of DHHS through the Commissioner of the motivated FX families telling captivating, heart-felt stories to more Administration on Developmental Disabilities (ADD) than 200 members of Congress, representing 32 states. But more the authority to distribute assistance to states which agree exciting, of those 140 advocates, more than 80 were new, making to participate. the journey for the first time to add their unique story to the cause. “For decades the rhetoric from Washington has emphasized For those of you who missed it, check out the video of our day on employment and self-sufficiency for people with disabilities,” the public policy page of www.fragilex.org. n stated Jeffrey Cohen, Director of Government Affairs and The author serves as vice president of The National Fragile X Advocacy for the NFXF. “Now it is time for the reality to match Foundation Board of Directors, where he chairs the governance the rhetoric.” committee and chairs its public policy committee. He is a You can learn more about the TEAM Act, or follow its practicing attorney in Houston, Texas. progress at www.govtracker.org. More important, call your Email: [email protected]

The National Fragile X Foundation Quarterly Issue 41 n June 2011 25 The National Fragile X Foundation Nonprofit Org. P.O. Box 37 US POSTAGE Walnut Creek, CA 94597 PAID Jefferson City, MO Permit No. 210

The National Fragile X Foundation

board of directors SCIENTIFIC & CLINICAL ADVISORY COMMITTEE

President Len Abbeduto, PhD, Co-Chair Deborah Hall, MD, PhD Feliciano Ramos, MD, PhD Michael Kelley, Maryland Waisman Center RUSH Univ. Medical Center, Chicago University of Zaragoza, Spain Vice President University of Wisconsin Gail Harris-Schmidt, PhD Karen Riley, PhD Brad Whitus, Texas Gary Bassell, PhD Saint Xavier University, Chicago University of Denver Treasurer Emory University, Atlanta David Hessl, PhD Sarah Scharfenaker, MA, CCC-SLP Marty Lang, Wisconsin W. Ted Brown, MD, PhD, Co-Chair M.I.N.D. Institute, UC Davis Developmental FX, Denver Secretary Institute for Basic Research Andrew Hoogeveen, PhD Stephanie Sherman, PhD New York Joseph Christoff, Indiana Erasmus Medical Center, Rotterdam Emory University, Atlanta Elizabeth Berry-Kravis, MD, PhD Vanessa Johnson, PhD, MS, RN-BC Gail Spiridigliozzi, PhD Elizabeth Berry-Kravis, MD, PhD RUSH Univ. Medical Center, Chicago University of Oklahoma, Tulsa, OK Duke University Medical Center, NC Illinois Marcia Braden, PhD Walter Kaufmann, MD Tracy Stackhouse, MA, OTR Al Blount, Maryland Private Practice Psychologist Kennedy Krieger Institute Developmental FX, Denver Colorado Springs Theodore Coutilish, Michigan Baltimore, MD Vicki Sudhalter, PhD Jonathan Cohen, MD Mark Dissette, Florida Frank Kooy, PhD Institute for Basic Research, New York Centre for Developmental Disability University of Antwerp, Belgium Margaret Israel, Missouri Melbourne, Australia Flora Tassone, PhD Ave Lachiewicz, MD UC Davis Medical Center David Justus, California Kim Cornish, PhD Duke University Medical Center, NC Jeremy Turk, DCH MRC Deborah Kwan, California Monash University, Melbourne, Australia Andrew Levitas, MD St. George’s Hospital Med. School Kimberly Miller, Georgia University of Medicine and Dentistry London Brenda Finucane, MS JC Planas, Florida Stratford, NJ Elwyn Training and Research Institute Karen Usdin, PhD Katherine Roeders, Wisconsin Elwyn, PA Allyn McConkie-Rosell, PhD, CGC National Institutes of Health Duke University Children’s Hospital Bethesda, MD Jennifer Silverton, Michigan Louise Gane, MS M.I.N.D. Institute, UC Davis David Nelson, PhD Stephen Warren, PhD Baylor College of Medicine, Houston Emory University, Atlanta executive director Ed Goldson, MD Lawrence M. Nelson, MD Corrine Welt, MD Robert M. Miller The Children’s Hospital, Denver National Institutes of Health Harvard Medical School Paul Hagerman, MD, PhD Bethesda, MD Emeritus DIRECTORs UC Davis School of Medicine Rob Willemsen, PhD Christopher Pearson, PhD Erasmus University Honorable Harris Hollin Randi J. Hagerman, MD The Hospital for Sick Children Rotterdam, The Netherlands M.I.N.D. Institute, UC Davis Randi J. Hagerman, MD Toronto

The NFXF is pleased to maintain the following funds in support of our mission:

Christoff Research Fund Harris Hollin Conquer Fragile X Fund Matthew & Suzanne Kirsch Richard Kurtz MD The Cube Fund for Research Jennifer & Kimball Silverton Research Fund Memorial Research Fund Edward Behrman Memorial Fund Fund for Research National Fragile X Foundation Fund William & Enid Rosen Marlyn & Melvin Weingarden Norbert Jacob Education Fund Research Fund Family Support Fund