quarterlyThe National Fragile 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
Support 6 Guardianship for Your Child
Fragile X syndrome (FXs)
Sleep in Children With Fragile X Syndrome: 8 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 NFXF Joins Growing Chorus on Job Rights for People With Disabilities
Focus on ‘Fun’draising 22 Spring Fragile X Fundraising Fun
New Board Members 24
Issue 41 n June 2011
With(Fragile X) Children
Pg. 12
Employment First! Self-Determination Movement Gains Traction
Pg. 18
Join Us in Celebrating!See page 23
What Is Fragile X?The term “Fragile X” represents a group of genetic
disorders, referred to as “Fragile X-associated
Disorders,” that have a variety of impacts on affected
individuals and their families. The disorders include: n Fragile X syndrome (FXS)—Caused by the
full mutation of the Fragile X gene, FXS is the most
common cause of inherited mental impairment.
Its effects range from learning disabilities to severe
mental retardation and autism. Symptoms often
include unique physical characteristics, behavioral
disorders, and delays in speech and language
development. n Fragile X-associated tremor/ataxia syndrome
(FXTAS)—A condition affecting some male (and
in rare cases, female) carriers of the premutation
over age 50, causing balance, tremor and memory
problems. nFragile X-associated primary ovarian insuffi-
ciency (FXPOI, or early menopause)—A condition
affecting some female carriers of the premutation.
Fragile X can be passed on in a family by
individuals with no apparent sign of the condition.
In some families, multiple generations are affected,
while in others, it may cause problems in only one
person.
Since 1984, The National Fragile X Foundation
(NFXF) has been helping individuals with Fragile X,
their families, and the professionals who work with
them. As research into Fragile X continues, our
understanding of who it affects and how it affects
them will grow. The NFXF is committed to:
1) supporting and funding all efforts that will increase
awareness, 2) improving education, 3) advancing
research toward improved treatments and an ultimate
cure, and 4) keeping the Fragile X community always
well-informed about the progress of these efforts.
PO Box 37 n Walnut Creek, California 94597
Phone: (925) 938-9300 Email: [email protected]
Toll free: (800) 688-8765 Web: www.FragileX.org
Fax: (925) 938-9315
the nFXF staFF:Robert Miller Executive Director
Liane Abrams, MS, CGC Genetic Specialist
Phil Campbell Administrative & Program Assistant
Jeffrey Cohen Director of Government Affairs & Advocacy
Sam Jacob Assistant Shipping Clerk
Teddy Palmer
Database Specialist
services offered:
Telephone consultation and basic informational packet—free
Educational resources (books, videotapes, CD)—fee
Local, national, and international conference sponsorship
Referral to medical, genetic and support services—free
Legislative advocacy
Research grants
Membership with quarterly journal—fee
services offered to:
Individuals, families, professionals, institutions, and students
involved with or impacted by Fragile X
service referral: Self or professional
eligibility: All
service area: National and international
dues-paying members: Over 1,100
phone, email and postal contacts: Approximately 10,000 annually
unique Website Visitors: Over 600,000 annually
Founded: 1984 as a public non-profit 501(c)(3) charitable organization
Federal tax id number: 84-0960471
Funding: Individual contributions, family and corporate foundations,
government grants
mission statementThe National Fragile X Foundation unites the Fragile X community to:n Enrich lives through educational and emotional supportn Promote public and professional awarenessn Advance research toward improved treatments and a cure
for Fragile X.
The Fragile X Quarterly is published four times annually
by The National Fragile X Foundation. The journal is
distributed to members and others by request. Please
contact the foundation regarding content or distribution.
Managing Editor: Andrew Hidas
Executive Editor: Robert Miller
Contributing Editor: Linda Sorensen
Design: Karen Ashton
Joshua Prasad Shipping Clerk
David Salomon Meeting & Technology Coordinator
Linda Sorensen, MS Associate Director
Meghan McMurray Development Coordinator
Jayne Dixon Weber
Coordinator of Support Services
The National Fragile X Foundation
1 The National Fragile X Foundation Quarterly Issue 41 n June 2011
quarterlyThe National Fragile X Foundation
readers respond…
Thank you for your recent article by Carly Heyman
(“Living With FXPOI,” March, 2011), which highlighted her
experience with FXPOI and the effect it has had on her life.
As a 33-year-old woman with FXPOI, I understand completely
the author’s struggles and appreciate her honesty.
It is easy to think of FXPOI as the “least problematic”
effect of FX, because it is something that is not obvious,
nor outwardly debilitating, nor easily discussed in everyday
conversation. However, its impact is tremendous: not only do
sufferers usually lose the ability to have a genetic child, as I did,
but they are riddled with the symptoms of menopause at a very
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
difficult to find doctors who are a) familiar with it, b) willing
to think critically about it, c) sensitive to its unique issues and
challenges, and d) knowledgeable about how to approach
its treatment. In today’s world of controversy over hormone
replacement therapy, the answers are not always so cut-and-
dried, which makes knowledgeable and committed doctors
even more of an essential resource. Sadly, they are very few
and far between.
As I imagine is the case for most women with FXPOI,
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
doctor who knew something about ovarian failure in general.
I hope that as your organization moves forward with its efforts
to educate the public and the medical community, to support
relevant research, and to advocate for those of us impacted by
FX, this will change and knowledgeable doctors will become
a dime a dozen. In the meantime, I am heartened by stories
like Ms. Heyman’s, which bring this often-overlooked and,
in my opinion, under-diagnosed problem out of the closet of
shame and taboo and into the light of research, optimism and
acceptance.
My hope is that Ms. Heyman will be able to one day
conceive via egg donation (as I did), adopt, or find her child
in another way, because she is right—FX is a part of us, but it
is not us. We need to work around it to achieve our goals of
parenting and to work with it to live the active, healthy lives
we deserve.
Abby Stillman Grayson
Belle Mead, NJ
Thank you, Robert Miller, for your column (“Things You
May Already Know”) in the March, 2011 Quarterly (No. 40).
It made me tearful to hear the encouraging words that I need to
listen to the experts but that I know my child best, and I am his
expert. Also, that our children are lifelong learners. It can be so
discouraging as a parent when so many don’t believe in your
child (especially during this time with IEP annual reviews).
Thank you for your work with Fragile X. You are appreciated!
Ginger Stringer
Colorado Springs, CO
Last week I received the link for the latest Fragile X
Quarterly and I must say I was very impressed with Robert
Miller’s column (“Things You May Already Know,” March,
2011). It made so much sense and is just so practical and
applicable. His insight is something I can re-read in times of
confusion. It surely gave me a lot of clarity. Thank you.
Shakini N. Kedia
Fragile X Society, Mumbai, India
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
2 Issue 41 n June 2011 The National Fragile X Foundation Quarterly
Being Fair
From the eXecutiVe director robert miller
e all talk about being fair. We
encourage our children, our political
leaders and many others to be fair.
We probably all have a pretty good sense of what we mean by
“fair” when we say it ourselves, but our perspectives may not
always be so self-evident to others. So it is important that we be
clear about our notions of fairness, especially since fairness has
always been, and is becoming more so, an issue in the world of
Fragile X.
It’s a new era in Fragile X, and things are getting
complicated. Multiple universities, pharmaceutical companies,
diagnostic companies and others, from both the for-profit and
non-profits worlds, are becoming involved in the field. Each
brings different capabilities and interests to the table, but each is
also interested in improving the lives of families. Make no
mistake: this is great news, and most all of the new challenges
that the involvement of these parties presents to the NFXF are
great challenges to have. That said, sorting out the interests,
influences and priorities of all these parties and their relation to
our foundation and families makes the issue of fairness more
important than ever.
To address these new challenges, the NFXF is putting
policies and procedures into place to help ensure that we treat
all parties fairly and keep the needs of the Fragile X community
of families front and center in our decision-making process.
That is why we now have an ethics committee that will advise
the board and staff. The committee is comprised of professionals
from both inside and outside the organization, and it includes
parents and those without children. We also have a corporate
advisory council, with representatives from pharmaceutical and
diagnostic companies, and our scientific & clinical advisory
committee has been subdivided into five new subcommittees so
that they can better focus their advice. Each of the above is an
important participant in the future of Fragile X treatment.
I share all of this with you because I want you to know
that the NFXF is always moving forward and doing its best
to anticipate change and adjust our goals and procedures
accordingly. That’s why we update our strategic plan annually
and why all major decisions are reviewed by board committees
before being brought to the full board.
Fairness takes on increasing importance through the life
cycle of individuals with fragile X syndrome. Parents work hard
to assure their children’s equal access in the school setting, and
as the children mature toward adulthood, it is equally important
that fair and equal access and sup-
ports are in place to maximize their
opportunities for taking part in the
everyday world of home, community
and work. This issue cuts right to
the core of fairness. Many years ago
(35 to be exact), we committed as
a nation to fairness for all children
with special needs. Please read
Serena Lowe’s article on page 18 to
better understand how we are now
going to get to a better and more
fair world for adults.
Finally, what is more fair than
ensuring equal access to the latest
treatments by professionals knowl-
edgeable about best practices for
Fragile X-associated Disorders?
That’s why I am very pleased to tell you that two new clinics
(Dallas and Houston, Texas) have been admitted into the
Fragile X Clinical & Research Consortium and that another eight
will likely be submitting applications this year. While geographic
access is only part of the fairness equation, it’s a critical part.
(Visit “Clinics” at www.FragileX.org to view all member clinics.)
So as the NFXF moves forward, we’ll continue to strive,
on your behalf, to do the right thing, the best thing and the fair
thing. Fair enough? n
The author has been executive director of the NFXF since 1999.
Email: [email protected]
W
The NFXF is putting policies and
procedures into place to help ensure
that we treat all parties fairly and keep the needs of the Fragile X community of families front and center in our decision-
making process.
3 The National Fragile X Foundation Quarterly Issue 41 n June 2011
It’s Time to TEAM Up for Our Kids
public policy update J. brad Whitus
keep telling myself that I remember
high school like it was yesterday…but
maybe that’s just amateur psychology
to convince myself I’m still young. That psychological sleight-of-
hand is becoming less and less effective—or believable—as one
of my own puts high school in her rearview mirror as this issue
goes to print. Notwithstanding her full mutation, Kenney, helped
along by a bunch of tutoring and late nights, will graduate near
the top quarter of her class. More exciting (or scary), she has
been accepted to Western Kentucky University’s music school,
and with the support of WKU’s Kelly Autism Program, will
work toward a bachelor’s degree in music education.
Barring a medical breakthrough from our incredible
community of Fragile X researchers, which I am certainly not
counting out, her younger sister, Christy, won’t have that same
opportunity. She will face that proverbial “cliff” so many of our
children face after high school, when the supports and programs
we fought so hard for with school administrators abruptly come
to an end.
Students with significant disabilities often leave high school
unprepared and without the supports in place to find and
maintain employment or pursue secondary education. While the
Individuals with Disabilities in Education Act (IDEA) requires
schools to provide transitional services for students through
high school, there is no enforcement, monitoring or evaluations
making sure they are effective. Instead, students leave the school
system unprepared for adulthood, often lacking the guidance
and skills to search for a job with a salary to support a self-
sufficient lifestyle.
Our champion in Washington, Gregg Harper (R-MS), has
faced that cliff in his own family. To our great fortune and like
no others before, Congressman Harper has the unique combi-
nation of being in a position to initiate change, and a vision to
define that change with insight, compassion, and responsibility.
To address the numerous systemic barriers and better
promote the advancement of youth with significant disabilities
transitioning to adulthood, Congressman Harper, together with
Cathy McMorris-Rodgers (R-WA), Gerry Connolly
(D-VA), and our new FX Caucus Co-Chair, Eliot Engel (D-NY),
introduced a comprehensive package of legislation known as the
Transitioning towards Excellence & Achievement in Mobility
(TEAM) Acts. Filed just in time to include in our Advocacy Day
2011 agenda, the TEAM legislation consists of a coordinated
trio of bills, all focused on realigning the goals of the federal
government to meaningfully support youth with significant dis-
abilities as they transition from the educational setting toward
integrated employment within their communities.
“In order for individuals living with intellectual and
developmental disabilities to reach their maximum potential,
Congress must enact a systems change,” said Harper.
“The current federal disability laws are hopelessly outdated and
will ultimately lead to unemployment and poverty for
these children.”n The TEAM-Education Act (H.R. 602) amends the
Individuals with Disabilities Education Act by:
1. Requiring transition components to be included in
Individual Education Plans (IEPs) for all IDEA-
eligible students at the age of 14;
2. Expanding the definition of transition services to
include customized employment strategies and self-
determination activities;
3. Clarifying that local education authorities can use
discretionary dollars to bring in transition expertise
or contract out transition services. Disability
advocates are now pushing to include many of the
provisions outlined in the TEAM-Education Act in a
reauthorization of the Elementary and Secondary
Education Act (ESEA) in the 112th Congress.n The TEAM-Employment Act (H.R. 603) amends the
Rehabilitation Act to realign preferred outcomes for
individuals with significant disabilities, and streamlines
public funding by requiring vocational rehabilitation
systems to actively engage with other state entities. The bill
I
continued on page 25
4 Issue 41 n June 2011 The National Fragile X Foundation Quarterly
Navigating the Road to Inclusion
braden on behaVior marcia braden, phd
ncluding special needs children in
general education classes is grounded
in special education law. But however sound the theory and
purposeful the law, having special needs students successfully
included with typical peers often eludes reality.
The momentum to include students with FXS in the
general education mainstream grew out of the Individuals with
Disabilities Education Act (IDEA). The assertion that children
with disabilities had a civil right to attend school in their home
school setting grew out of Civil Rights litigation. The emphasis
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
have a considerable interest in people—one of the hallmarks of
this population is a strong desire to interact socially. This often
makes inclusion more viable and increases the success rate.
It is important to remember, however, that levels of
affectedness vary from one individual to another, and placement
options must include enough flexibility to meet individual needs.
There are occasions when inclusion can wind up being restrictive
to children with severe needs.
Symons, Clark and Roberts, 2001 studied the classroom
engagement of elementary school children with FXS and
determined that the engagement was strongly related to the
environmental and instructional quality propagated by the
teachers and classroom. How the teachers structured and
arranged the classroom environment was much more important
to student engagement than were specific aspects of the child’s
Fragile X status, medication use or dual diagnosis. This research
clearly defines a number of environmental and instructional
factors that are important when choosing a general education
classroom.
Successful inclusion cannot be accomplished without a
systematic, sequential process. Just placing the student with
FXS in a general education classroom with a para-professional
close by does not necessarily constitute success. Likewise, the
mere placement or proximity to typical peers is insufficient in
achieving an appropriate education for students with FXS. In
order to design effective outcomes, the parents and school team
need to define the purpose of the inclusion. In other words, there
needs to be a reason for the student to be included. Otherwise,
the time spent in the general education classroom may reduce
the time needed for other services that are often equally or more
important to the child’s individual educational needs. The chart
that follows defines a number of the necessary supports given
specific targeted outcomes associated with the inclusion of an
individual with FXS.
I
FXS
OUTCOME
Social
NECESSARY SUPPORTS
• Viable peer group
• Social facilitator
• Flexible setting
• Opportunities for natural contexts
Behavioral • Appropriate role models
• Structured and predictable schedule
• Cooperative learning opportunities
• Organized classroom
Academic • Specialized instruction
• High interest content
• Enrichment opportunities
• Emphasis on visual presentation
• Opportunities for priming
or pre-teaching
• Collaboration between SpecEd
and general education staff
Vocational/
Prevocational
• Viable work models
• Positive work environments
• Flexible breaks
• Consistent staff
5 The National Fragile X Foundation Quarterly Issue 41 n June 2011
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
teacher responsible for redirection and facilitation because that
is most like what is done for typical peers. Classroom rules
and behavioral expectations should be the same for students
with FXS unless there is a Behavior Intervention Plan (BIP) in
place, which usually defines certain behavioral characteristics
to be a manifestation of the disability. In those cases, special
considerations are required.
Transitions can be difficult for students with FXS, and they
are very common in the general education setting. Providing a
predictable schedule with visual supports is important. If the
student is aware of the change ahead of time, the element of
surprise is eliminated. In addition to providing a visual schedule
and other structured strategies, teachers can use using a less
direct approach such as side dialoguing among the adults in
the classroom to alert the student to pending changes. (“So
Ms. Johnson, it looks like we’ll be ready to dismiss the students
for lunch in five minutes.”)
It is often prudent to afford the student with FXS an
opportunity to carry equipment from the gym back to the
classroom or assign him or her some particular job to complete
as part of the transition time. This may help lessen the anxiety
associated with the change.
Recently, after observing several special needs students
in their included environments, I was struck by the poorly
planned execution of their inclusion. Each had a para-
professional in close proximity, tending to the student as if the
para-professionals were teaching a class within a class. The
tutorial relationship between the student and para-professional
precluded those with FXS from being able to participate in
the natural interaction within the general education class.
In one setting, the students were grouped in sets of four and
the students with FXS sat at their own table with two para-
professionals and no general education peers. The obvious
question was: How does this qualify as inclusion? Inclusion
is not “making students with FXS look typical”; it is instead
helping students with FXS bring their own unique qualities into
the general education classroom, with full access and acceptance,
to the benefit of all. Hopefully, with good planning and emphasis
on desired outcomes, the intent of IDEA will continue to bloom
into positive and fulfilling experiences for students with FXS—
and for those with whom they share a learning environment. n
The author is a psychologist and special education
consultant in Colorado Springs who specializes in Fragile X.
She is the author of Fragile: Handle With Care, and creator
of the Logo® Reading System.
Contact: http://[email protected]
6 Issue 41 n June 2011 The National Fragile X Foundation Quarterly
t the age of 18, children become
legal adults, which means the parents
are no longer their legal guardians,
even if the children have disabilities. In order to continue helping
their children take care of themselves, make decisions in the
children’s own best interests, and handle their assets, parents
have to initiate a process of assuming legal guardianship of their
adult children. My husband and I recently went through this
experience with our son Ian.
Arranging guardianship for Ian was not as bad or as
difficult as I thought it would be. Here is the approach my
husband and I used, turned into a series of guidelines for you
to consider. (My disclaimer: We are not attorneys and do not
pretend to be. This is what worked in our state and in our city—
Boulder, Colorado, earlier this year. Some or all of the guidelines
below may differ in your own jurisdiction.)
1. Gather information. Call your local Arc or your local
disability office to see if they offer classes on guardianship.
Also, talk to any friends who have gone through the
process. You can also search for your state-specific
information on the Internet. Search for “guardianship (your
state).” Every state is different.
2. Ensure you have a complete set of the latest forms. You can
go down to your local courthouse and pay for the forms or
you can download them from the Internet.
3. Get a handbook or some kind of guidelines that lay out the
process and responsibilities of all the parties in your state.
This will help you and it will help you help your child.
4. Call your local courthouse to see if there is access to free
attorney time. You might not need it, but it is nice to know
if it is available.
5. Begin filling out the forms and use some sticky notes for
places where you have questions. Then if you take it to the
attorney, you can go right to your questions.
6. Complete the forms. Note that some must be notarized and
there are timelines for distributing copies to “interested par-
ties.” (This is in case someone “objects” to your guardianship.)
7. Turn in the forms at your county courthouse (keep a copy
for yourself). You’ll pay a filing fee (we paid $175) and you
may have the option of purchasing copies of the approved
guardian papers (we bought two at $25 each).
8. Prepare for a court visitor who contacts you soon after
filing. This person comes to your home to meet you, your
spouse if you have one, and your child. If your child lives
with a care provider elsewhere, the visitor will go there, too.
When the visitor called we asked what kinds of questions she
would ask. She said they would be about what Ian does during
the day, and about us becoming his guardians. When I said I
didn’t think he would understand the part about guardians,
she said she might ask, “Do you want your mom and dad to
keep helping you make decisions?”
9. Prepare your child for the visitor. Tell your child there is
a process that parents have to complete in order to keep
helping their children. Then ask, “Do you want your mom
and dad to keep helping you make decisions?” When he
says yes, tell him a person is coming who will ask that
question (or something like it). Say: “If you want us to keep
helping you then tell her yes.”
10. When the court visitor comes, he or she will ask you
why your child needs a guardian. Let’s see: for help with
things like getting up in the morning, personal hygiene,
wearing appropriate clothes, getting to/from work, money
management, making/attending medical appointments,
taking medications, getting to activities, and the fact that
reminders are needed for almost everything. The visitor may
also ask, “Why should you be guardians and not someone
else?” I summed it up this way: “We know him better than
anyone else and love him more than anyone else and want
the absolute best for him.”
11. You might ask the court visitor about getting your child’s
case early on the docket. The visitor should have the name
and phone number of the judge’s clerk. Call and tell the
clerk that your child has a disability (we mentioned anxiety
Guardianship for Your Child
support Jayne dixon Weber
A
FXS
7 The National Fragile X Foundation Quarterly Issue 41 n June 2011
and pacing) and that you would appreciate it if your case
could be early on the docket.
12. Make sure you send out the notices/paperwork required to
all “interested parties.” There is a deadline.
13. Prepare your child for the court visit. These are some things you
might want to mention, maybe a day or two in advance: n We all have to go to court—you, Mom, and Dad—to
see a judge, who will ask, “Do you want your parents
to keep helping you make decisions?” You will want to
answer “yes.”n At the courthouse, you have to go through security like at
the airport.n You will then go to the courtroom. There will probably
be other people there, doing the same thing you are.n You have seen courtrooms on television—they pretty
much look like that.n Right before the session starts, a person will come in
and say, “All rise.” Everyone stands up. Then the judge
walks in right after that and says, “Please be seated.”
Then everyone sits down. The judge could be a man or a
woman.n The judge will have a black robe on. The judge does have
regular clothes on under the robe. n The judge will call your name because the case is in your
name. You’ll walk with Mom and Dad to the front of the
courtroom. The judge will ask the names of the parents.
Then she will ask you the question about us helping you
make decisions. The judge will say that all the paperwork
looks to be in order and then sign the approval. We
will pick up the paperwork and everyone can leave the
courtroom. And it will be done.
14. An annual report has to be filed. You will be given a date,
for which you will not receive a reminder. It is similar to
what is on the application, the purpose is to see if there are
any changes in your child’s life. You can mail or turn it into
the courthouse.
You are now the guardians of your child. Others have
recommended to me that I carry an original of the guardianship
papers wherever I go. Keep a copy in your car and always take a
copy when you travel.
Those are the basics. Now for part of our story:
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
court.” We had not told Ian about the court part yet.
“Yeah you do,” I said, “but we all have to go—you and
me and Dad. It’s no big deal. We go in a room and there will be
a person called a judge and the judge will ask you if you want
your mom and dad to keep helping you and you will say yes and
we will be done.”
Ian says, “What’s the court
look like? Like any other room?”
I’m not sure where he’s going with
this so I say, “Uh, yeah, pretty
much like any other room.” And
he says, “What does the judge
wear? Just regular clothes?”
“Uh, yeah, I think regular
clothes. Why?”
“Because I’m not going,“
he says.
We are a week out at this
point. I cannot believe his care
provider told him about the court this far out, because I know
Ian is not just going to worry about it, he is going to WORRY
about it. Every day for the next few days, I hear, “I’m not going
to court.” And he walks off.
The afternoon before the court date, Ian stomps down the
steps in our house and announces more distinctly than I have
heard before, “ I AM NOT GOING TO COURT!”
“Ian, it’s really not a big deal.”
“I’M NOT GOING.” Then he throws his glasses across the
room. “Ian,” I start to say.
“I’M NOT GOING.” His cell phone flies across the room.
Calmly, but quickly, I say, “Ian…tell me why you don’t want to
go to court?”
His voice becomes very sad. It starts to crack as he says,
“Because I don’t want to go to jail.”
I stop, feeling that wave of “Oh wow” rush over me, and
then every court scene Ian has ever seen on television runs
through my mind—you know, the scenes where a person goes to
court and then goes to jail. And ever so slowly I say, “Ian, you
do not have to go to jail. You will never have to go to jail. This
court is different. I promise.”
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.”
Good luck and let me know how it goes! n
The author is the support services coordinator for the NFXF.
Send your questions to her at: [email protected]
The afternoon before the court date,
Ian stomps down the steps in our house
and announces more distinctly than I
have heard before, “I AM NOT GOING
TO COURT!’”
8 Issue 41 n June 2011 The National Fragile X Foundation Quarterly
leep is a universal behavior among mammals, birds, and
reptiles. Even blue-green algae have biological clocks. Although
sleep patterns, habits, postures and habitats differ among
species, sleep is basic to life. The purpose of this article is to
highlight the complex interactions involved in sleep and to
encourage a thorough approach to behaviors causing sleep
problems in children with fragile X syndrome.
In the animal kingdom, safety and survival needs
underscore many adaptations to sleep. For example, birds often
sleep with one eye open during non-rapid eye movement sleep
(NREM) so they can be aware of
potential threats and be able to fly for
great distances. Newborn dolphins
swim along their mothers and are able
to rest half of their brains by keeping
one eye open towards her and the
other closed. Typically, lab rats live for
two to three years, but when deprived
of rapid eye movement (REM) sleep
they survive an average of five months.
If deprived of all sleep they survive only three weeks.
We are only beginning to recognize the safety and social
constructs of sleep inherent in each of us. The power of social
belonging and our vigilance system are mechanisms that have
naturally restricted sleep to a perceived safe environment. Since
sleep and vigilance are opposing processes, the tension between
the two has practical relevance throughout development. This is
especially so in children with FXS, who are hyper-vigilant and
sensitive to environmental stimuli and changes. Loss of sleep
can affect virtually all physiological functioning and behavioral
regulation, including memory and attention, complex thinking,
motor responses, and emotional control. Given that individuals
with FXS tend to have an already compromised nervous system,
optimum sleep is essential to their functioning.
In a national survey, parents of children with FXS reported
that 32 percent of their children have current sleep problems
(Kronk, et al, 2010). Delayed sleep onset and frequent nighttime
awakenings were the most highly reported difficulties for all
age groups and both genders.
Waking up too early was ranked
next highest for males, followed
by restless sleep in both genders.
Children with more problematic
health or behavioral characteristics
(i.e. inability to interact, listen,
adapt) had a higher likelihood of
having current sleep problems.
These children were also more
likely to be taking medications.
Approximately 40 percent
of parents felt that medical
interventions had no or little effect on sleep difficulties. Up to 62
percent reported that behavioral interventions had no or little
effect on their child’s sleep problems.
So: given the centrality of sleep to virtually all life and
the centrality of sleep problems in many children with FXS,
what is a parent to do? Although there are very few studies
(either medical or behavioral) that provide evidenced-based
data on effective interventions for ensuring adequate and
restorative sleep for the FXS population (Weiskop, Richdale,
Matthews, 2005; Wirojanan, et al, 2009), a practical approach
to assessment should result in an appropriate treatment plan.
Always be apprehensive of “one size fits all” recommendations
for children with FXS, who are in the throes of a challenging
developmental process and need to be uniquely assessed.
First and foremost, any medical conditions (i.e. obstructive
sleep apnea, restless leg syndrome) that may be causing
inadequate sleep need to be identified and treated. Arriving
at the root cause of sleep disturbances requires a thorough
evaluation. Parents should complete at least a one-week sleep
diary on their child to determine her quantity and pattern
of sleep. Assessment tools such as the Child’s Sleep Habits
Questionnaire (CSHQ) or Pediatric Sleep Questionnaire (PSQ)
also help qualify and quantify the type of sleep disturbances.
In a previous study, 34 percent of children with FXS were
reported to snore loudly (Kronk, Noll, Dahl, 2009). A positive
Sleep in Children With Fragile X Syndrome: A Bio-Psycho-Social Approach
SGiven that
individuals with FXS tend to have
an already compromised
nervous system, optimum sleep is essential to their
functioning.
Rebecca Kronk
By Rebecca Kronk, MSN, CRNP, PhD
FXS
9 The National Fragile X Foundation Quarterly Issue 41 n June 2011
relationship was found between snoring and clinical levels of
sleep issues as reported by parents. Obstructive sleep apnea
may be a chronic contributor to sleep problems in some children
with FXS.
Seizures may occur at night and are another medical
condition that needs to be considered. Children with FXS are
estimated to have an increased risk, ranging from 13-18 percent
in boys and about 5 percent in girls (Hagerman, et al, 2009).
Ideally, an overnight sleep study with an accompanying
EEG should be performed to rule out many of these medical
conditions. However, many children with FXS may not tolerate
this procedure. Audio or visual taping of your child during sleep
may help your medical provider’s assessment of snoring, sleep
apnea, teeth grinding, restlessness, and nocturnal seizures.
Inattention and hyperactivity are common co-occurring
conditions in children with FXS (Bailey, Raspa, Olmsted, &
Holiday, 2008). Since stimulant medications that treat ADHD
can also affect sleep onset, the dose and timing of administration
should be included as part of the medical evaluation.
Once a medical condition is treated or ruled out, the first
line of non-pharmacologic treatment is to improve “sleep
hygiene,” which refers to a set of sleep-related behaviors that
signal to the child that nighttime, with its accompanying sleep
expectation, is approaching. Sleep hygiene strategies can work
because cues in the external environment influence our internal
biological rhythms; it is a type of behavior conditioning that
reduces stimulation and increases relaxation.
The first area of consideration is the sleep environment.
The bed and bedroom should signal certain behaviors. The
environment should be used only for the expected behavior of
sleep, with no other stimulating activities available such as TV,
computer, or video games. Nor should the bedroom be used
as a place of discipline or stress—given the opposing forces
of sleep and vigilance, sleep needs to occur in a perceived safe
environment. Minimal stimulation, unexciting decorations,
soothing colors, transitional objects, low lights, and white
noise are all possible enhancers to creating a positive sleep
environment. Lowering the lights also has a physiological
influence by signaling the brain to release melatonin, the
hormone of the night. Conversely, morning light exposure
decreases melatonin production and has a powerful influence
on setting the internal clock for the day, thereby resulting in
an overall improvement of the 24-hour circadian rhythm.
Maintaining a regular sleep-wake schedule is the goal. This
includes regularly
scheduled meal times
and activities. Most
children with FXS
(most all children,
actually) benefit from
a consistent schedule,
which contributes to
a sense of safety and
security.
The key to
independent sleep
is to allow a child
to fall asleep in a
drowsy yet awake
state without reliance
on parental interventions. Because all children have several brief
arousals nightly, it is essential that they are able to comfort
themselves independent of outside interventions. A variety of
behavioral techniques can assist in this process. They include:n Sleep fading—This is a systematic pull-back to earlier
bedtimes. It begins by setting bedtime at the child’s current
sleep onset time, then gradually advancing to the desired
bedtime. For example, if your child naturally succumbs to
sleep at 11:00 p.m. but your desired bedtime is 9:30 p.m.,
begin at the 11:00 slot (and thus avoid 1.5 hours of struggle
right off the bat). But then, advance bedtime by a mere
15 minutes every few days, until your desired bedtime is
reached.
n Graduated extinction—This technique progressively reduces
bedtime checking. You enter your child’s room only on a
predetermined time frame to check and reassure. For
example, you initially check every five minutes but on
subsequent nights, you extend the time incrementally.
The key is to give your child opportunities to self-soothe
and eliminate your reinforcement of negative behaviors.
This technique helps with both sleep onset delay and
multiple night awakenings.
n Bedtime passes—A bedtime pass system quantifies the
number of times your child is able to get out of bed, thereby
encouraging adherence to sleep routine and promoting
sleep onset. For example, you may give your child two
“passes” (like a hall pass in school) that allows him to get
out of bed only twice. Once the passes are used, your
continued on page 25
Calvin (top) and Justin, zzzzzzzzz...
10 Issue 41 n June 2011 The National Fragile X Foundation Quarterly
Linking and Learning Anita Inz, LINKS Group Leader, Brooklyn, New York
I volunteer because it takes people
with a multitude of perspectives
and experiences —scientists,
educators, clinicians, parents
and other family members—and
effective communication among
them to understand and treat FXS.
By volunteering, I help people
throughout the Fragile X community
learn from one another.
I have had the incredible opportunity to bring at least one
professional to the field of FXS. Many years ago, at a talk I gave
on Fragile X at a local developmental disabilities council, I met
Laurie Yankowitz, senior director of Family Support Services at
HeartShare Human Services, a voluntary agency in New York
City. As a result of the talk, Laurie was able to recognize FXS in a
client and to modify her approach to him in a way that increased
his comfort and participation in the program. I have worked
with her ever since in my capacity as president of the Fragile X
Association of New York; together, we provide information and
referrals for services to dozens of families every year. Meanwhile,
Laurie has gotten a doctorate in special education, specializing in
Fragile X.
Volunteering has also given me the opportunity to shape
research by some of the preeminent experts on Fragile X. As the
leader of one of the two LINKS groups working with our local
clinic, I maintain close contact with one such expert, Dr. Vicki
Sudhalter. I have had the benefit of her sage advice too many
times to count. Vicki, like Laurie, seeks my suggestions as she
does her work. Being able to have this kind of input feels like a
far-reaching benefit of my volunteer efforts.
At 25, my son David lives independently with appropriate
supports and has a full and rich life. I am certain that my
volunteer work has given me opportunities to help make this
dream a reality for him and for many other individuals. I
volunteer because I know I make a difference.
Mouse Race ManRich Erker, Fundraiser, Wildwood, Missouri Our son Ryan was diagnosed with fragile X syndrome on March 2,
2003, when he was two and half. I will never forget that day. “What
the ##*** is Fragile X?” we wanted to shout. We had our little pity
party (why us, why our little Ryan?), and I am not afraid to admit
that I cried many nights. That same day, my wife Dawn called the
NFXF, who referred us to contacts who live only 20 minutes away.
Their names were Marty and Margaret Israel. Dawn spent 45
minutes on the phone with Marty while I searched the web for info
(while tears ran down both our cheeks).
Soon it was on to a support meeting followed by a leadership
conference, after which Dawn and I both knew we needed to
do more. Our resource group had many goals, and we all know
what it takes those happen: hard work, passion and money. So we
started looking at different
options for a fundraiser.
That’s when Ryan’s
first speech therapist
recommended something
called “mouse races.” We
had never heard of such a
thing. But we decided to
give it a shot.
Once you start talking to people you learn that they know
other people who know other people—and many of them are
eager to help. It just starts with asking. Our First Annual Mouse
Races for Fragile X were a huge success. We were blown away by
all the people who came and gave so generously. Now, our group
is working on our 5th annual event.
Having been raised in a family that encouraged volunteering,
it was not uncommon for me to help others. But with the FXS
diagnosis, the tables were turned and we were the ones needing
help. We are all in this Fragile X family together, and each of us
is doing our part to make our collective journey special. None of
us would be who we are without the rest of us. Knowing that is
why I volunteer.
Four Who (Continue to) Step UpVolunteering 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.
Focus on Volunteers linda sorensen
11 The National Fragile X Foundation Quarterly Issue 41 n June 2011
It’s About RelationshipsDr. Gary Bassell, Scientific & Clinical Advisory Committee Member, Atlanta, Georgia
I am pleased to serve on the Scientific
and Clinical Advisory Committee
(SCAC) of The National Fragile X
Foundation. In this capacity, my
main responsibilities are to advise
the foundation on research proposals
and priorities, and also speak
about research progress at scientific
conferences and fundraising events.
I really don’t view this service
as “volunteerism” but rather as a professional responsibility to
help support an agency with common interests and objectives.
However, it shares qualities with volunteering with respect to
the free choice we as scientists have in what to study and how to
invest our time throughout our careers.
The first transformative event in this career choice was my
recruitment to the Rose Kennedy Center for Mental Retardation
at Albert Einstein College of Medicine in 1998. Later came my
faculty appointment at Emory University in 2005, which is truly
a unique environment for collaborative, interdisciplinary research
on Fragile X at all levels. I continue to be motivated by an ever-
growing group of outstanding scientific colleagues, including
several talented students and postdoctoral fellows working
tirelessly in our laboratory. I greatly value these relationships.
Equally important have been the personal interactions
with individuals and families whose lives have been affected by
fragile X syndrome. My first direct interaction with individuals
with FXS was at a National Fragile X Foundation conference
in 2002. I was deeply moved by the challenges and personal
experiences faced by parents on a daily basis. As a parent myself,
the intertwined love and emotional stress that these parents deal
with resonated with me. They are supported by the interactions
with the scientific community at these NFXF conferences, which
offers hope for their future, and we in turn continue to be
motivated by their support and appreciation.
My own career choice and commitment, including my role
on the SCAC, continues to be motivated by relationships with
fellow scientists and affected families. This has been a rewarding
experience, and I look forward to a promising future.
Going LocalJoe Garera, LINKS Group Leader, Erlanger, Kentucky I was asked why I volunteer. Well, I’ve got to blame my genes for
some of this—volunteering in my family goes back generations.
Growing up I often saw my parents and grandparents being
involved at church, schools, local civic clubs, fire departments
and youth sports. As one of five kids we all understood the value
of giving and getting involved.
After the diagnosis of our son Nick, we contacted the
foundation, which helped get us started on the right track with
some good material. Realizing that education was crucial, we
sought out the next Fragile X International Conference, held
in Portland in August 1996. Attending my first conference
was the most overwhelming and enlightening thing I had ever
experienced. I left Portland with many things, including some
great friends and the realization that I (we) are not alone in this
journey. I also left with a dream of how great it would be to
bring a smaller conference to our area.
When my dad, an avid golfer, passed away, my family began
planning to host a golf outing in his memory. We were unanimous
on where the money would go: to help Nick and FXS.
My wife Leslie and I embarked on our first conference
in late 2000. With the help of our families and friends and
their support in raising awareness and money through the golf
outings, the First Cincinnati Area Fragile X Conference became
a reality. We have now hosted a total of four conferences
and partnered with a local TV station to host three Fragile X
weekend clinics.
Everyone we’ve
touched through these
many activities has
touched us back many
times over. So, why do
I volunteer? I believe
just like most parents,
we will do as much as
we can to help our kids.
Let me relate a question
I was asked while getting introduced for a presentation at Miami
University. “Joe, what is your title?” “It’s just ‘Dad,’” I replied.
I thank Leslie, Nick and my family for supporting me
and allowing me the time and energy to be involved with
The National Fragile X Foundation. n
12 Issue 41 n June 2011 The National Fragile X Foundation Quarterly
ne of the prevailing fears for a couple when their child has
a disability is that their marriage will be affected, perhaps even
end. In fact, one statistic cited to such couples is that 80 percent
of them will be divorced because of the child. When couples tell
me this, I let them know that is not my experience, nor can I find
any data to support it. However, it important to recognize that
50 percent of all couples divorce, and that statistic can be higher
when a significant stressor hits the family.
Having a child with a disability is certainly one of those
stressors—and it is chronic. Regardless of the marriage’s health,
a child with special needs requires
enormous renegotiation of roles and
reordering of priorities for parents.
Disability in a child challenges our core
beliefs about life and its meaning, and
it challenges our dreams for the future.
Other stressors and crises do that,
too—illness, unemployment, natural
disaster, or a death in the family. But
disability in a child carries with it
particular obstacles that couples must learn to navigate if the
marriage is to thrive.
But first, let’s look at what the experts say constitutes a
“healthy marriage.” In his book, 10 Lessons to Transform
Your Marriage, Dr. John Gottman, who has made the scientific
study of marriage his life’s work, says that “happily married
couples behave like good friends.” He also says they handle
their conflicts in “gentle, positive ways.” Note that he does not
say healthy marriages have no conflict, but how that conflict is
managed determines the marriage’s success.
In their book, Married with Special Needs Children, Laura
Marshak and Fran Prezant say that in a healthy marriage,
partners: 1) feel connected through time, affection, and intimacy;
2) have good communication and conflict resolution skills; 3)
have tolerance and respect for each other’s differences; 4) share a
fair distribution of power and responsibilities; 5) feel like a team
and are able to adapt to changing circumstances; 6) have a sense
of their individuality and also the
“we-ness” of the relationship; and
7) are committed to the marriage.
Children entering the
relationship present new challenges.
The couple must adapt to their
new roles as parents while also
trying to stay connected as
lovers and partners. And when
one or more of the children has
fragile X syndrome or any other
significant disability, a whole
additional set of challenges presents
itself. Besides dealing with our
individual struggles of parenting a special needs child, we must
simultaneously surmount the following challenges with our
partner if the marriage is to thrive:
1. We need to connect with our spouse even though at times it
seems our child’s issues are all-encompassing.
2. We have to accept that our partner may have different
emotional reactions to the diagnosis. In our minds, our
partner may not be “grieving right.” On the whole, men
and women tend to handle their feelings quite differently,
and that reality may be challenging for each partner to
understand.
3. We may have to make adjustments to our marital and
parental roles in a way that feels fair and doesn’t cause
resentment in either party. This may require occasional
evaluation and re-adjustment.
4. We have to do our best to retain some gestures of romance so
that we can see one another as more than “Mom and Dad.”
5. We need to develop a creative vision for the future, despite
the challenges of the present moment. Often the thought of
the future, which was once the subject of much dreaming
together, becomes a scary subject, best avoided. With time,
couples can begin to dream again about their shared vision for
their future (even if that future only extends to next month).
FXSn Cover Story By Diane Simon Smith
Married…With (Fragile X) Children
OIn 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 stronger?
Diane Simon Smith
13 The National Fragile X Foundation Quarterly Issue 41 n June 2011
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
stronger so that they can “go the
distance?” How can we be flexible enough to respond to new
and changing demands? Here are some suggestions:
n Plan some time alone together. First and foremost, couples
need to carve out time that is theirs alone. Of course, this is
easier said than done, given the challenges of time, money,
and finding babysitters. (The latter can be especially difficult
if there is no family around.) This is the purpose of respite
care. Use it to have sacred time for yourselves. You can even
do something small like taking a walk or going to an early
movie; it doesn’t have to involve great time or expense.n Express appreciation sincerely and often. One thing that
couples consistently tell me in therapy is that they often
don’t feel appreciated by one another. Acknowledgement
for the big things is very important, such as: “I really
appreciate how you work so hard to support our family.”
Or: “You do such a wonderful job with the kids.” But
remember: the little things are important, too. Try stating
something very specific such as: “I really appreciate that
you helped me get the kids’ breakfast this morning.” Try for
one such acknowledgement each day. (And try not to follow
up with, “but….”)n Share laughter and find humor in everyday things. Children
with FXS can be charming and very funny. There is plenty
to enjoy about them. So reclaim humor, irony, and laughter
if these have been in short supply for you. It is a powerful
weapon against despair and disconnection.n Praise frequently; criticize rarely. Research shows this
formula is a predictor of marital longevity. Try for a 3:1
ratio to start.
n Respect each other’s different ways of dealing with your
child’s disabilities. Through conversation, listen to your
partner’s experience of your child, and accept that it may be
different from your own.n Accept each other’s strengths and limitations. On a team of
any kind, there are individuals who excel at one skill and do
not do as well at another. It is important to remember that
we each have limitations that our partners must learn to
accept. n Develop a united front for parenting. A difference in
parenting styles is a primary source of conflict between
partners. Do not undermine each other’s parenting. Take
your discussions and disagreements away from the children.
If you fear your partner is very inappropriate in his or her
parenting, get help.
Relationships are a challenge and an opportunity for
growth, under any circumstances. Good relationships require
showing empathy and taking responsibility. Think about what
it is like for your partner to be the parent of a child with fragile
X syndrome—and what your partner might need from you both
emotionally and practically. Share these ideas with your spouse.
Then imagine your relationship as you would like it to be.
Decide on the one thing you can do today to move you toward
that vision and then take that step to make your reality closer to
that vision. n
The author is a licensed marriage and family therapist in
Woodland Hills, California, and the mother of two children
with special needs. Her son, Andrew, who passed away in 2002
at the age of 17, had severe cerebral palsy. Matthew, 23, has
fragile X syndrome. She considers her sons to be her teachers.
Email: [email protected]
14 Issue 41 n June 2011 The National Fragile X Foundation Quarterly
Doggone It, Mantras Are Great for Learning!!
ou may recall the line from Saturday Night Live character
Stuart Smalley, played by the now Senator from Minnesota, Al
Franken: “I’m Good Enough, I’m Smart Enough, and Doggone
It, People Like Me!” One of the highlights from last year’s
participation in Advocacy Day was seeing Senator Franken
on the Senate floor. While most of our therapy techniques
are sophisticated and learned from professionals rather than
Saturday Night Live cast members, mantras, like positive
affirmations, really do have power. In our case, we have
found mantras to be useful for both skill development and
to support self-regulation.
So, what are mantras? Mantras are short, positive,
instructive statements full of action words. We use them to quiet
the mind and focus thinking and action. Of course, there is a
spiritual tradition from which mantras are derived. But we will
leave that explanation to those wiser than us! Ommm…
Mantras and skill developMent
Most of us have had a coach or instructor try to assist us in
learning a new motor skill. One of the tried and true techniques
in skill acquisition is focusing on a particular aspect or subset
of the skill. Rather than trying to develop the entire skill in one
swoop, the teacher emphasizes a discrete part of the skill, then has
the student practice to achieve mastery. For example, a beginning
downhill skier will learn to shift her skis by using the mantra and
visualization of “French fry” (skis together to move down the hill)
and “pizza pie”(push skis to wedge-shape to slow down). The
verbalization and mental imaging drives the motor action, and
repetition builds confidence and focus. As mastery and ease with
the skill develop, the mantra is allowed to fade out.
Individuals with fragile X syndrome are prone to self-talk
and perseveration, so in a significant way, teaching them to use
constructive mantras harnesses their natural tendency to narrate
their lives. Some examples: A common skill we have to foster in
children and adults with FXS is eating normal size bites, chewing
and swallowing, and minimizing mouth-stuffing. Mantras can
play a role in the rehearsal and reinforcement of the skill you are
encouraging. In many cases we have used the following mantras
successfully:
n Take a bite, take a bite, take a bite….CHEW!
n Take a bite, take a bite, take a bite….DRINK!
n Dip a little, dip a little, put it in your mouth! (This is
particularly helpful for introducing novel foods.)
n Feet together…JUMP! (Used to promote correct motor
plan for trampoline jumping.)
n Thumb to the ceiling with my scissors! (Used to promote
correct motor plan for holding scissors and cutting.)
If you’ve ever listened to the Ms. Marnie TV Teacher
videos, you’ll see how she uses short, catchy phrases to reinforce
motor planning skills related to drawing and handwriting.
Sometimes we’ll use a favorite phrase or utterance or silly
sentence to prime a child’s rhythm for working on timing and
generation of verbal speech.
One boy loved barbecues, and we used the phrase,
“I went to a bar b cue, and I had some…….”
Of course, everyone’s favorite mantra relates to the early
developing skill of cleaning up (although Mouse’s 25-year-
old is still working to mastery on that): “Clean up, clean up,
everybody everywhere!”
Mantras and self-regulation
Mantras are powerful for quieting and focus, and thus lend
themselves well to the arena of self-regulation. The common
experience of talking yourself through a stressful situation
reveals the human tendency to derive comfort from repetitive,
focused self-talk. “I can do this, I can do this, I can do this,”
you say, as you step from the plane and open your eyes to cast
a last glance over your shoulder to make sure your instructor
remembered to secure your parachute.
FXStherapy in action With mouse & tracy
Y
24th in a series of “Coffee Talk” articles by Occupational Therapist Tracy Stackhouse and Speech Therapist
Sarah “Mouse” Scharfenaker.
15 The National Fragile X Foundation Quarterly Issue 41 n June 2011
As therapists, we realize the power of focusing on the
precise quality that can promote the shift that is desired. Often
the phrase that comes to a person naturally may be too negative
to be effective. For example, we have a boy we work with
who repeats over and over, “Shut up, I hate you…I’m sorry!”
Sometimes letting him vent with this phrase can be helpful, but
more often he becomes stuck in this negative space and attitude.
Working with him to shift this to something more positive and
empowering such as “I need some space…that’s better” allowed
him to express the source of his negative affect.
With another young man, being precise about what needed
to be regulated was effective. His mantra was, “I am the boss
of my hands, I am the boss of my feet.” These were encouraged
when he would impulsively run or grab or throw. Some other
examples of self-regulatory mantras are when we use a phrase to
target “stopping,” a self-regulation capacity that is often difficult
for individuals with FXS.
“Stop… take a breath” and “Stop….think…..now do” or
“Think it, say it, do it” are all examples of how we would work
on inhibition and impulse control. These are often paired with a
gesture, since the verbal and nonverbal combination can be very
effective. For example, with “Think it, say it, do it,” we pair a
point gesture to the head, the mouth, then the body, and find
that sometimes we can fade the verbal to just the gesture, which
teachers can often incorporate in classrooms. The “Five Finger”
approach that we have discussed previously is a gesture/mantra
self-regulation cueing system. The individual first grabs the
thumb and says, “Stop,” followed by holding the index finger
and saying, “Take a breath.” The final three fingers are paired
with: “What’s wrong, what can I
do, and now do it!”
Besides pairing mantras with a
gesture, we often couple them with
a visual to better facilitate learning.
For example, a two-sided card with
a green or red circle on either side,
paired with “Ready...not ready” is
a basic self-regulation support that
is visual and “mantra-ized.” We
might have a “Take a break” card,
a stop sign, a breath sign, or an individual-being-the-boss-of-
their-hands photograph to pair visuals with mantras.
Finally, as therapists, we are sensitive to varying degrees of
cognitive understanding and verbal expression, and find we can
easily adjust the cues and method of accessing the mantra as
needed.
Mantras can play a role in anyone’s learning. So choose
your favorite and adopt it! And our thanks to Stuart Smalley for
empowering us. As we started our writing process for this article
we adapted one of his favorites that started us off here: “We’re
gonna help people! Because we’re good enough, we’re smart
enough, and, doggone it, people like us!” n
Tracy Stackhouse, MA, OTR and Sarah “Mouse” Scharfenaker,
MA, CCC-SLP, are co-founders and directors of the
Developmental & Fragile X Resource Centre in Denver, C0.
Email: [email protected], and
The common experience of
talking yourself through a stressful situation reveals
the human tendency to derive comfort from repetitive,
focused self-talk.
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:
No ideas or tales are too small or large. Send submissions or discuss your ideas with: [email protected]. Thank you!
• Parents’ Forum
• In Their Own Words
• Letter to the Editor
• Something more wide-ranging still!
WritefortheFragileXQuarterly!
16 Issue 41 n June 2011 The National Fragile X Foundation Quarterly
By Andrew Hidas
Anyone keeping up with Fragile X research literature in recent years comes across the term “mGluR5” with increasing regularity. Can you give us a sense of what it means and why it’s important?Researchers studying the chemistry of the brain have made some
discoveries we’re coming to believe are largely responsible for
most of the behavioral problems seen in boys and girls with
fragile X syndrome. The generally
accepted idea based on this
research, which began with the
work of Dr. Mark Bear’s group at
MIT and was published in 2002,
is that FXS involves a problem
with glutamic acid. Glutamic acid
is one of 22 amino acids in the
human body. Amino acids are the
basic building blocks that form
protein in every cell. Glutamic acid
is an excitatory chemical, meaning
it excites the cell it’s released on. When an electrical signal goes
down the nerve, it stimulates a second nerve to be either excited
or inhibited. It causes or prevents the other nerve from expressing
a signal. The research on mice suggests that there is an over-
reaction to glutamic acid in those with FXS, which causes too
much stimulation in the brain. So one of the ideas being studied
is to partially block the glutamic acid and thus inhibit the highly
excitable behavior we see in FXS. This approach has been quite
successful in mice. This targeted approach to therapy has caused a
lot of excitement in the medical community.
How does the glutamic acid get blocked?There are several ways, but chief among them are various drugs,
some of them now in phase II clinical trials. One published
study from Novartis involved a small sample of 30 subjects in
Europe. Partially blocking the glutamic acid seemed to improve
the behavior of children with FXS. All the subjects who had the
full mutation improved clinically. Those with just a partially
methylated mutation didn’t seem to be helped as much. This
was curious—we’re not sure why it would be. Obviously, more
research is needed on this.
Why is there too much glutamate?The discovery and sequencing of the “Fragile X gene” (scientific
term: Fragile X Mental Retardation 1,” or “FMR1”) in 1991
by Drs. Warren, Nelson, Oostra, Mandel, and Sutherland’s labs
showed that it plays a central role in typical brain development.
That gene is “broken” or “fragile” in those with FXS, so it doesn’t
produce enough of a key protein known as the Fragile X Mental
Retardation Protein (FMRP). This lack creates a chemical reaction
that allows glutamic acid to run wild. It’s a complicated piece of
chemistry.
Are we looking at the many drugs currently being studied as a possible cure for FXS, or are they more for symptom amelioration? The basic problem in FXS is the lack of FMRP. So if we’re to cure
the syndrome, it would mean replacing that protein. We’re not
there yet. The drugs we’re studying address the problem of excess
glutamate. So it’s addressing part of the problem, but it’s not a
cure.
What would lead toward a cure?The ideal would be to use genetic engineering to replace the
Fragile X gene chemically in those people where it is broken and
effectively turned off or “methylated.” That would allow it to
re-express itself or become “unmethylated,” which is its typical
state. If we could do that, we might have a chance for a cure.
mGluR5: A PrimerThis 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.
The basic problem in Fragile X is the
lack of FMRP. So if we’re to cure
the syndrome, it would mean
replacing that protein.
17 The National Fragile X Foundation Quarterly Issue 41 n June 2011
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
refers to a protein that is the 5th receptor of the metabolic type for
glutamic acid.
Do all mammals have mGluR5?Yes. Not only mammals, either. We see it in fruit flies and worms,
too. The basic chemical system that builds and sustains life
evolved very early, so we still see it in primitive life forms. We can
watch plants in seabeds just sitting there doing nothing, but their
nervous system transmitters and receptors are functional very
much like ours, so they are capable of sensing and then pulling a
passing organism in to feed themselves. This is based on simple
nervous activity, but it requires a lot of things to function correctly.
We can assume human nervous systems are a bit more complicated?The central nervous system has billions of nerve cells, connecting
the activities from all parts of our body. It consists of the brain and
spinal cord. When we want to wiggle a toe, an electrical impulse
goes from our brain along the spinal cord down through our leg
and then to the toe. It’s highly organized and complex, but most
nervous activity takes place beneath our awareness. Obviously, no
one is aware of the glutamic acid activity that causes nerve cells to
express over-enthusiastically. This is just how we are made, and
most of the time, everything functions in a way that can sustain
life. And sometimes, things go wrong.
It seems rather miraculous they go right as often as they do.Yes, human life is pretty much miraculous, in the fact that we
have evolved to this point. We have approximately 25,000 genes,
of which some 60 to 70 percent are expressed in the brain. Genes
have to be expressed in just the right order in thousands of ways,
and if they’re not, it causes disruption in normal neural activity.
The Fragile X protein appears to be very important for nervous
system function, because it modulates the expression of other
genes. If 25,000 genes are being expressed, we know that about
5 percent, or 1,250 genes, are under the control of the Fragile X
gene. That amounts to a significant impact on neural activity.
Sounds like there’s lots of buzz among scientists in the Fragile X field.Yes, plenty of excitement. There is a lot of basic research underway,
too, about what happens when the Fragile X protein is not expressed,
what’s going on mechanistically in the cell, because there might be
other targets we can reach besides just glutamic acid. We’re at a point
where targeted drugs might make a real difference in people with
fragile X syndrome, helping them to live richer lives. n
The author has edited the Fragile X Quarterly since 2004.
Email: [email protected]
Dr. Ted Brown is part of a growing contingent of scientists in various academic and research settings around the world who continue to build upon each other’s work in determining the causes, treatments, and quest for an eventual cure for Fragile X-associated Disorders.
18 Issue 41 n June 2011 The National Fragile X Foundation Quarterly
Public policy aimed at promoting optimal independence and
empowerment of individuals with fragile X syndrome and other
intellectual and developmental disabilities (I/DD) is of growing
concern nationally. The topic engendered much dialogue at
The National Fragile X Foundation’s International Conference
last summer, and it is continuing in the wake of Rep. Gregg
Harper’s (R-MS) introduction of a
federal legislative package in February
known as TEAM (“Transition
toward Excellence, Achievement and
Mobility”).
As an ardent supporter of this
legislation by Fragile X champion
Harper, the NFXF has worked closely
with the Collaboration to Promote
Self-Determination (CPSD), an
advocacy network deeply involved in the disability rights field
that the NFXF itself helped to organize. This article will clarify
the goals of the CPSD and address questions around several
public policy reforms currently being considered by the federal
government.
Cpsd BaCkground
The CPSD was launched in 2007 by the Autism Society of
America, the National Down Syndrome Society, and The
National Fragile X Foundation. These organizations came
together in response to a growing demand from families across
the country who were concerned that their children with I/DD
lacked opportunities to work, earn a livable wage, and engage in
the community after entering adulthood. Today, the CPSD has
15 national organization members and over 100 subject-matter
experts serving on its senior advisory board.
The CPSD is committed to innovative public policy reform
that will elevate America’s consciousness of people living with
I/DD and help ensure their rights to pursue lives of optimal
independence in integrated communities. The vision of the
CPSD is that every youth and adult living with I/DD has the
opportunity, encouragement, and support required to lead an
independent, productive life.
value fraMeWork
CPSD presumes competence in all people with significant
disabilities to work and live independently in integrated settings
and to meaningfully engage and contribute to their communities.
Furthermore, the CPSD has argued that publicly-financed
resources that support these individuals should be sharply
focused on helping them become self-sufficient, productive
members of society, working and living alongside their typical
peers and compensated at competitive wages and benefits.
To accomplish this, there must be a clear focus in public
policy and resources that affirms these high expectations. Only
then can individuals advance economically by generating income
and building an asset base. Systems-change must also ensure
continued access to long-term supports for those who have
successfully achieved partial self-sufficiency but still require
some assistance to offset the tremendous costs related to their
disability. (See sidebar for the CPSD’s full value framework.)
goals
The CPSD’s goals include:n Creating a national dialogue on the need for policy
innovation and reform toward empowering youth and
adults living with complex I/DD who require significant
support;n Eliminating barriers and increasing opportunities for the
I/DD community through comprehensive federal legislation
and regulatory reforms;n Identifying opportunities at the state level for effective
implementation of these public policy reforms;n Providing opportunities for individuals to meaningfully
partake of education, employment, social interaction, and
community involvement;n Eliminating obstacles and creating incentives to empower
individuals to live and work in integrated settings, generate
income, and save for their future; n Customizing public supports based on the unique needs of
individuals throughout their lifespan.
In order to accomplish these goals, the CPSD focuses on the
following strategies:
By Serena Lowe
Employment First!NFXF Joins Growing Chorus on Job Rights for People With Disabilities
Serena Lowe
19 The National Fragile X Foundation Quarterly Issue 41 n June 2011
1. Advocating for individuals with I/DD to work and save
money without jeopardizing needed publicly-funded
supports. This can be accomplished through the elimination
of asset and income limits that determine eligibility for state
and federal entitlement programs such as Social Security
and Medicaid.
2. Advocating for an “Employment First” agenda that
supports competitive, integrated employment as the
preferred outcome for all people with significant disabilities,
and requires state and federal systems to fully align
practices toward this outcome.
3. Campaigning for broad systemic reform that results in
improved coordination of services for the I/DD population,
along with the blending of government-provided resources
that will promote coherent, individualized, person-centered
planning and self-direction of resources.
nfXf role
The National Fragile X Foundation is committed to ensuring
that the policy agenda of the CPSD is well-informed by the
experiences, knowledge and expertise of individuals and families
who are living with fragile X syndrome. As such, the foundation
wants to hear from the Fragile X community. We encourage you
to share your thoughts via email to [email protected].
The pathway to reform is a long and winding road that will
require consistent, thoughtful engagement of and feedback from
the Fragile X community. The NFXF is committed to advocating
for progressive reforms, while also ensuring that the rights and
choices of individuals and their families affected by Fragile X are
protected.
addressing ConCerns
Various questions have been raised about the ramifications of
the far-reaching public policy reforms that the CPSD and NFXF
are seeking. Let us address three of the central questions here.
1. Will implementing an employment first policy result in the
immediate elimination of subminimum wage practices and
sheltered employment for individuals with i/dd?
No. Subminimum wage is a wage paid below the minimum
wage set by the Fair Labor Standards Act (FLSA). It is based
on a worker’s compromised productivity due to a physical or
mental disability. Employers who pay subminimum wages must
first obtain a certificate from the U.S. Department of Labor.
They must assess the skills and productivity of their employees
with disabilities compared to employees without disabilities.
The wages of the employees with
disabilities are then adjusted based
on their level of productivity as
compared to typical employees.
There are differences of opinion
even in the disability community
regarding subminimum wage
employment. Some feel that such
laws are no longer necessary and
are not consistent with prevailing
values. Others are concerned that
the loss of an employer’s ability
to adjust wages to performance
will increase the likelihood that those with the most significant
disabilities will not have any employment opportunities and will
be forced into non-work day programs, or even out of programs
entirely. Many on both sides of the discussion acknowledge the
historically inconsistent and ineffective oversight of the system,
which has led to abuse and exploitation of the subminimum
wage system.
The CPSD’s position is simple: we support a presumption
of employability at competitive wages for all workers with
disabilities. This presumption should serve as the baseline
expectation in our society, rather than beginning from a
presumption that workers with I/DD will, by virtue of their
disability, require a subminimum wage structure. The reality is
that many individuals with significant disabilities are experiencing
success in the general labor market, earning competitive wages
and benefits—along with praise from their employers and
colleagues. As such, CPSD believes publicly-financed services
should be redirected so as to exhaust all efforts to get a person
gainfully employed in the workforce before sheltered employment
and subminimum wages are even discussed.
What is needed is a balanced approach to gradually
phase out and then eventually eliminate FLSA subminimum
wage provisions for all individuals (regardless of ability), but
only while simultaneously building the capacity to support
individuals with significant disabilities in integrated employment
paid at or above the prevailing minimum wage. This, and a
larger set of reform strategies that will be discussed in future
articles, is the crux of Employment First. The goal is a systematic
reduction in the use of subminimum wage practices, but not
their immediate elimination, so as not to harm workers currently
relying on such wages under the current approach.
CPSD presumes competence in all people with
significant disabilities to work and live independently in
integrated settings and to meaningfully
engage and contribute to their
communities.
continued on following page
20 Issue 41 n June 2011 The National Fragile X Foundation Quarterly
EQUALITY
Lack of personal control or autonomy, deprivation of
human dignity, segregation and abuse (including
seclusion and restraint) should not be experienced by any
population or tolerated by our society for any reason.
Personal autonomy, access, accountability, and responsibility over one’s life
decision-making processes, including control over publicly-funded and personal
resources required to support an individual in their personal needs and pursuits,
result in better outcomes for the individual and society.
CHOICE
A fundamental commitment is to discover and honor
individual choice. Living and employment options that
foster a “separate but equal” scenario or that promote
exclusion in mainstream society do not foster true individual
choice or empowerment.
The current system has built-in institutional biases that support segregated outcomes,
thus limiting the ability of individuals to fully actualize or pursue their own goals or
motivations, and restricts their quality of opportunity.
COMPETENCE
Competence should be presumed in all individuals, and
public policy should presume the highest expectations on
both the system and individuals.
Public systems with high performance outcomes that meet individualized support
needs result in a decreased reliance on public supports and financing over the long
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
proximate a person’s life in the community is to peers
without disabilities.
Individuals with disabilities are chronically underrepresented in all aspects of society,
and as a result their quality of life (in terms of employment, wealth, and health
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
supported to pursue a working lifestyle.
Work should not be optional for individuals who are capable of working and rely on
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
away from the paternalistic cycle of the past and instead
promote and respect the dignity of risk.
The nature of cognitive impairments associated with a I/DD makes those living with
such disabilities particularly vulnerable to the prejudices of external stakeholders,
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
based upon individual support needs. Assistance should help
them achieve inclusive education, integrated employment, and
independent living within typical community settings.
Systems should be prohibited from keeping certain subpopulations from resources
that would allow them to strive for, attain and achieve personal objectives related
to increasing their self-sufficiency, independence, and economic progress in
integrated settings.
CORE VALUES GUIDING PRINCIPLES
21 The National Fragile X Foundation Quarterly Issue 41 n June 2011
2. Will individuals with complex i/dd conditions such as fXs have the
knowledge and capacity to compete and be productive at standards
expected in the general workforce?
With the needed supports, yes. We are now more than a quarter
century into a disability rights movement that has definitively shown
that with appropriate supports, individuals with disabilities can
achieve far more than the low expectations placed on them by our
society and publicly-financed systems would suggest. A key objective
of Employment First policies is to address the current imbalance
of federal funds that are being invested in services that continue to
presume low expectations among individuals with disabilities and
further perpetuates their segregation from the economic mainstream.
A rebalancing means that existing expenditures must be used to
support a system that presumes high expectations and competitive
employability. Without sweeping systemic change and a rebalancing
of the way federal and state support dollars are spent, nothing will
ever change. Consider:n State Medicaid programs spend four times more federal
money on segregated adult day programs (day habilitation and
sheltered work) than on supported employment ($488 million
vs. $108 millioni).n Recent data suggests only an estimated 20 percent of individuals
receiving day supports from state disability agencies participate
in integrated employment.ii The vast majority of persons served
through the community rehabilitation provider system are
in sheltered employment, non-work programs, or training
programs with the goal of eventual competitive or supported
employment.
Over the years, services provided in group settings and center-
based programs have led to far fewer instances of integrated
employment. Wages in these segregated settings are also far below
rates for typical employees (and are often without benefits). The
changes proposed in an Employment First system will not be easy
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
developmental disabilities. Moreover, the CPSD is comprised of
member organizations that represent the families of individuals with
I/DD, along with self-advocates who are fully capable and should be
actively engaged and advocating on their own behalf.
Finally, the CPSD is guided by established national trends, a
growing body of data, and many testimonials that help sharpen
its focus on bringing promising practices to a national scale. The
collaboration does not propose an independent agenda, but rather,
a set of the best and most progressive ideas to promote self-
determination and fully integrated, productive lives for all those
living with FXS and other complex I/DD. n
The author is president of AnereS Strategies, a Washington D.C.
consulting firm, serves as executive director of the CPSD, and
served as a public policy advisor to the NFXF and its government
affairs team for more than 10 years. Email: [email protected]
...continued from previous pageEmploymentFirst!
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.
22 Issue 41 n June 2011 The National Fragile X Foundation Quarterly
lthough the early months of the year
brought chilly winter weather, NFXF
supporters ran, biked, and bowled their
way to raising money and awareness for Fragile X! Meanwhile,
back at foundation headquarters we enjoyed overwhelming
success with our first-ever direct mail campaign in support of
Advocacy Day. As Fragile X friends and family marched to
Washington D.C. for the eighth year in a row, many donors
showed their support from home by contributing to a collective
$27,000! Without this vital investment from our donors and
advocates, we could not continue our year-round advocacy
efforts that have led to the steadily increasing federal funding
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.
The afternoon included the opportunity for guests to bid
on a wide array of auction items ranging from gift certificates
to local artwork graciously donated by local businesses and
artists. It concluded with lively card games. Many thanks go out
to the Joan-Jay-Judy-Irv team for their hard work on another
successful event!
Valbella Wine Tasting—New York, New York
On March 7 Paul Cappiali, a friend of NFXF board member
David Justus, organized a wine tasting fundraiser in New York
City. The owner of Valbella restaurant provided space, food, and
service and helped attract patrons. The event provided a fantastic
opportunity to raise awareness of Fragile X, and a portion of the
proceeds were donated to the NFXF.
“Friends for Tommy” Inaugural Bowl—Batavia, IL
Like most parents in such circumstances, Alicia and Matt Brooks
didn’t know where to turn when they received an FXS diagnosis
for their son Tommy. Two years later, after having met many
families in their local community and beyond through the NFXF,
they held their inaugural Fragile X Bowling Party. With cautious
expectations, they set a goal of filling 16 lanes, hoping to have
70–80 bowlers. One week after invitations were sent, they had
to call the bowling alley to see if they could accommodate over
180 people! They were overwhelmed by the support from family,
neighbors, school friends, sports teams and wonderful members
of the community that wanted to support Fragile X.
The group took over the entire bowling alley and the lanes
were filled with bowlers of all ages. When kids were not bowling
they were entertained by a professional face painter who painted
favorite animals, insects and even green smiley faces to match the
cookies handed out for Fragile X awareness. The day concluded
with Tommy selecting the raffle tickets, and winners walked
away with an iPod touch, a night’s stay at a 4-star hotel and
spa, interior home painting services, a bowling party and even
gourmet pastries and candies. All the bowlers had a great time
and wanted to know when the next event will be held. Many
thanks go out to all our friends for Tommy!
Spring Fragile X Fundraising Fun
Focus on ‘Fun’draising meghan mcmurray
A
Parents Matt and Alicia Brooks, Grandparents John and Joanne Salemi with Tommy, Uncle “D,” sister Isabella, cousins Sophie, J.D. and Taylor, and Auntie Stacey.
23 The National Fragile X Foundation Quarterly Issue 41 n June 2011
Challenge X—Prescott Valley, AZ
On January 29, Anytime Fitness Prescott Valley hosted its second
Challenge X Bootcamp to raise money for the NFXF. Under
the guidance of Season 7 Biggest Loser contestants, participants
revved up their workout regimens by pushing through a six-
hour boot camp. The event has grown in popularity since the
first Challenge X was held in July 2010. Anytime Fitness owner
Leanne Shearer plans to turn it into a semi-annual event—with
proceeds continuing to benefit Fragile X!
Jackson Laughs Race to Benefit the NFXF—Kent, OH
When Fragile X parents
Ben and Natalie Koberna
committed to holding a
fundraiser in honor of their
son Jackson, they decided
to organize a race to attract
local runners. Months of
planning led up to the April
9 event, which was held at
Kent State University’s Dix
Stadium. Some 120 runners
showed up on the cold and
cloudy race day to participate in the 5K, 25K, or 1-mile fun run.
NFXF Board Member and Fragile X researcher Dr. Elizabeth
Berry-Kravis was there to run the 25K—and finished third in her
age group! All 25K participants received Tek Ts, and 5K runners
received commemorative pint glasses.
Immediately following the race, an awards and after-party was
hosted at the Rusty Nail bar. Dr. Kravis and Robby Miller concluded
the day’s events with speeches to educate the crowd about Fragile X
and the NFXF. The Kobernas hope to hold the event again next year
and would like to thank participants, friends, and family who made
the race possible. n
The author is the development coordinator for the NFXF. For
more about organizing or supporting fundraising activities,
contact her at [email protected].
Sione and Filipe Fa with two Anytime Fitness Bootcamp participants.
Race organizer Ben Koberna and his son Jackson.
Trustees CircleThe 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
NFXF provides for all families touched by Fragile X. n
Eileen & Marty Aronovitch Pam & Don Bailey, PhDDean & Elizabeth Berry-Kravis Al & Melissa BlountMarcia Braden & Ken WoodJay & Joan CanelScott & Lynda CanelJerad & Julie ChaoJoey Christoff & Catherine Frey-ChristoffJeffrey & Arlene CohenCarey & Cheryl Kraff Cooper, MDPhillip & Sandra CooperTed & Mary Beth Coutilish/LanganRichard & Rosalee DavisonMark & Bonnie DissetteJonathan & Mara DorffPeter & Kari EspinosaIra & Rebecca FishmanMark & Caryn GershensonJohn & Madelyn GibbsTodd & Marcia GraysonMark & Marla GruzinRandi Hagerman, MD & Paul Hagerman MD, PhDJohn Harrigan & Stephanie JacobGail & Stephen Harris-SchmidtKevin & Melanie HeinemanNancy & Paul HeiselGail & Lyons HeymanAnita & Richard InzMargaret & Martin Israel
Rose & Scott JahnkeTricia & Joe JudgeDavid & Joy Justus Stephen & Shirley KaufmanLisa & Michael KelleyManus Kraff, MDDeborah & John Kwan, DDSMarty & Terri LangTom & Peggy Lang Kim MillerMichael & Marilyn MorganPaul & Teresa MulhausenDavid L. Nelson, PhD Bobbi NewmanJanice OlsenJohn & Tracey Petrides, MDJ.C. & Viviana PlanasPhil & Barbara PorterfieldTricia & Don PriceKatherine & Markus RoedersRobert & Sher RosenfeldAndrew & Tammy SelingerMary & Roger Seward Phyllis & Herbert SiegelKimball & Jennifer SilvertonDebra SkinnerDiane & Gifford SmithRuss & Linda StrandRobert & Ruth Strudler Carolyn & John Tomberlin Rosa & Angel Vega Sherri & Brad Whitus
HElpUSCElEbrAtENationalFragileXAwarenessDay!
Send us a photo of your child doing one of the 1,001 things
our children do that show them as the delightful, rounded,
always interesting and self-determined individuals they are!
Then write a note about it to share with the Fragile X
community. Just go to: FragileX.org/awareness/2011
...and follow the directions to help show the world your
child, just like all children, is more—always more—than the
sum of any labels or diagnoses we can possibly give them.
24 Issue 41 n June 2011 The National Fragile X Foundation Quarterly
ust as every flower adds new dimension to a bouquet, new
people joining the various boards and committees that support
the work of The National Fragile X Foundation help ensure that
fresh inputs, skills and perspectives are constantly enhancing the
foundation’s work. Below are brief capsules of new NFXF board
members who have joined over the past year. More information
about them and continuing board members can be found at
http://www.fragilex.org/html/foundation.htm.
Ted Coutilish lives in Grosse Pointe,
Michigan with his wife, Mary Beth
Langan, and son, Andrew, 10, who
was diagnosed with FXS at age 21
months in October 2002. The family
subsequently discovered that Mary
Beth has FXPOI and her dad, Jack
Langan, has FXTAS. Ted has been
active in the Fragile X Association
of Michigan and the NFXF in assisting with marketing and
communications needs while also serving as associate vice
president of marketing at Eastern Michigan University. He
co-writes a column in The Grosse Pointe News with Mary Beth
entitled “X-tra Special Advice,” for parents of children with
special needs.
Dave Justus is the chief financial officer
for a technology company in Orange
County, California, where he resides
with his wife Joy and two sons: 5-year-
old Jackson, who is unaffected, and
2-year-old Tyler, who was diagnosed
with fragile X syndrome in 2010. No
one in either of the extended families
had ever heard of FXS prior to then.
One month later, Joy’s father was diagnosed with FXTAS. Dave
consented readily to joining the board after experiencing the
overwhelming support services made available to his family
through the existence of the NFXF.
Kimberly Miller has worked in the development field for more than 15 years with a variety of nonprofit organizations. She lives in Roswell, Georgia, with son, Andrew, 10, and daughter Maddie, 8. After Andrew was diagnosed with FXS at age 4 (Maddie is unaffected), she immediately called the NFXF and talked with Executive Director Robert Miller (no relation).
Thus began the building of multiple relationships that quickly led her to serve in several key roles at the International Fragile X Conference in Atlanta in 2006. Appointments to become an FX Association of Georgia LINKS leader and co-chair of the NFXF Board Development Committee soon followed.
JC Planas served in the Florida State House of Representatives from 2002 to 2010. He first became aware of Fragile X when his cousin William was diagnosed in 2004. That event became the catalyst for his family’s continuing commitment to raise awareness and participate whenever possible in Fragile X-related events. 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 Days in Washington D.C. He hopes to start a similar Advocacy Day effort in Florida.
Jennifer Silverton shares two “tween-age” children with her husband Kimball at their home in Grand Blanc, Michigan. Her son, Aidan, 13, was diagnosed with fragile X syndrome at age 2 ½, while daughter Camryn, 11, is unaffected. After graduating from Michigan State University with a degree in journalism, she spent 12 years as a television news reporter with
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.
Five New Members Come “A-Board”
J
25 The National Fragile X Foundation Quarterly Issue 41 n June 2011
child has a visual, transactional reinforcer that encourages
him to stay with the program.
These techniques have been successful in children with
typical development as well as those with special needs. While
generally not a quick fix, they can be a lasting fix.
Behavior techniques may be used independently or in
conjunction with medications. However, there are no FDA-
approved medications to treat sleep insomnia in children.
Melatonin, considered a nutritional supplement, is widely used
in treating sleep onset issues and has shown efficacy in studies
with small samples of children with intellectual disabilities and
autism spectrum disorders.
There is a dynamic interplay between sleep in the individual
with FXS, biology and the environment. The underlying
cause/s of sleep problems require a thorough evaluation to rule
out medical factors and then to assess individual behaviors
and environmental factors, all with the goal of assuring the
development of healthy patterns for this most elemental and
restorative human activity. n
The author is an assistant professor of nursing at Duquesne
University and clinical assistant professor of pediatrics at the
Children’s Hospital of Pittsburgh of UPMC, Child Development
Unit/Fragile X Center. Email: [email protected]
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.htm7. 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.
would also promote innovation and accountability through
demonstration grants aimed at implementing reform
strategies. n The TEAM-Empowerment Act (H.R. 604) would
amend the Developmental Disabilities Act to establish
Transition Planning and Service Divisions within the
State Developmental Disability Authorities, as well as
Individual Transition Plans to advance best outcomes
and self-determination. Additionally, the bill would
increase accountability of these authorities by providing
the Secretary of DHHS through the Commissioner of the
Administration on Developmental Disabilities (ADD)
the authority to distribute assistance to states which agree
to participate.
“For decades the rhetoric from Washington has emphasized
employment and self-sufficiency for people with disabilities,”
stated Jeffrey Cohen, Director of Government Affairs and
Advocacy for the NFXF. “Now it is time for the reality to match
the rhetoric.”
You can learn more about the TEAM Act, or follow its
progress at www.govtracker.org. More important, call your
congressmember—or better yet, visit the district office—and ask
him or her to become a co-sponsor. You can also send an email
requesting co-sponsorship at http://www.congressweb.com/cweb2/
index.cfm/siteid/nfxf. For those of you who attended Advocacy
Day in March, now is a good time to follow up with your
congressmember (again) and remind him or her there are voters in
the district who are very interested in this exciting legislation.
On the subject of Advocacy Day 2011, I would be remiss
if I did not again thank all of our 140 advocates for yet another
awe-inspiring march on Washington. We had a record crowd of
motivated FX families telling captivating, heart-felt stories to more
than 200 members of Congress, representing 32 states. But more
exciting, of those 140 advocates, more than 80 were new, making
the journey for the first time to add their unique story to the cause.
For those of you who missed it, check out the video of our day on
the public policy page of www.fragilex.org. n
The author serves as vice president of The National Fragile X
Foundation Board of Directors, where he chairs the governance
committee and chairs its public policy committee. He is a
practicing attorney in Houston, Texas.
Email: [email protected]
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Sleep...
It’stimetotEAMUpforOurKids
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The National Fragile X Foundation P.O. Box 37Walnut Creek, CA 94597
The National Fragile X Foundation
Len Abbeduto, PhD, Co-Chair Waisman Center University of Wisconsin
Gary Bassell, PhD Emory University, Atlanta
W. Ted Brown, MD, PhD, Co-Chair Institute for Basic Research New York
Elizabeth Berry-Kravis, MD, PhD RUSH Univ. Medical Center, Chicago
Marcia Braden, PhD Private Practice Psychologist Colorado Springs
Jonathan Cohen, MD Centre for Developmental Disability Melbourne, Australia
Kim Cornish, PhD Monash University, Melbourne, Australia
Brenda Finucane, MS Elwyn Training and Research Institute Elwyn, PA
Louise Gane, MS M.I.N.D. Institute, UC Davis
Ed Goldson, MD The Children’s Hospital, Denver
Paul Hagerman, MD, PhD UC Davis School of Medicine
Randi J. Hagerman, MD M.I.N.D. Institute, UC Davis
Deborah Hall, MD, PhD RUSH Univ. Medical Center, Chicago
Gail Harris-Schmidt, PhD Saint Xavier University, Chicago
David Hessl, PhD M.I.N.D. Institute, UC Davis
Andrew Hoogeveen, PhD Erasmus Medical Center, Rotterdam
Vanessa Johnson, PhD, MS, RN-BC University of Oklahoma, Tulsa, OK
Walter Kaufmann, MD Kennedy Krieger Institute Baltimore, MD
Frank Kooy, PhD University of Antwerp, Belgium
Ave Lachiewicz, MD Duke University Medical Center, NC
Andrew Levitas, MD University of Medicine and Dentistry Stratford, NJ
Allyn McConkie-Rosell, PhD, CGC Duke University Children’s Hospital
David Nelson, PhD Baylor College of Medicine, Houston
Lawrence M. Nelson, MD National Institutes of Health Bethesda, MD
Christopher Pearson, PhD The Hospital for Sick Children Toronto
Feliciano Ramos, MD, PhD University of Zaragoza, Spain
Karen Riley, PhD University of Denver
Sarah Scharfenaker, MA, CCC-SLP Developmental FX, Denver
Stephanie Sherman, PhD Emory University, Atlanta
Gail Spiridigliozzi, PhD Duke University Medical Center, NC
Tracy Stackhouse, MA, OTR Developmental FX, Denver
Vicki Sudhalter, PhD Institute for Basic Research, New York
Flora Tassone, PhD UC Davis Medical Center
Jeremy Turk, DCH MRC St. George’s Hospital Med. School London
Karen Usdin, PhD National Institutes of Health Bethesda, MD
Stephen Warren, PhD Emory University, Atlanta
Corrine Welt, MD Harvard Medical School
Rob Willemsen, PhD Erasmus University Rotterdam, The Netherlands
Christoff Research Fund
The Cube Fund for Research
Edward Behrman Memorial Fund
Harris Hollin Conquer Fragile X Fund
Jennifer & Kimball Silverton Fund for Research
Marlyn & Melvin Weingarden Family Support Fund
Matthew & Suzanne Kirsch Research Fund
National Fragile X Foundation Fund
Norbert Jacob Education Fund
Richard Kurtz MD Memorial Research Fund
William & Enid Rosen Research Fund
the nFXF is pleased to maintain the FolloWing Funds in support oF our mission:
scientiFic & clinical adVisory committeeboard oF directors
PresidentMichael Kelley, Maryland
Vice PresidentBrad Whitus, Texas
TreasurerMarty Lang, Wisconsin
SecretaryJoseph Christoff, Indiana
Elizabeth Berry-Kravis, MD, PhD Illinois
Al Blount, Maryland
Theodore Coutilish, Michigan
Mark Dissette, Florida
Margaret Israel, Missouri
David Justus, California
Deborah Kwan, California
Kimberly Miller, Georgia
JC Planas, Florida
Katherine Roeders, Wisconsin
Jennifer Silverton, Michigan
eXecutiVe director
Robert M. Miller
emeritus directors
Honorable Harris Hollin
Randi J. Hagerman, MD
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