Treatment and Intervention
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Treatment and Intervention

 While there is currently no cure for Fragile X syndrome (FXS), there are many areas of treatment and intervention that can improve the lives of affected individuals and their families. Given the proper education, therapy, and support, all persons with FXS can make progress.Most children with FXS qualify for special education services. Education can be complemented by a variety of therapies that will help your child become more independent in the transitions from childhood through adolescence and into adulthood.

Many Fragile X Clinics are opening across the United States and around the world. Clinics can guide parents to medication options that may address the symptoms of FXS, while new medications are coming on the market that aim to treat the underlying condition.Parents must address a new set of issues as their child with Fragile X syndrome grows into adulthood. The NFXF provides a variety of Resources to assist in this transition, from print and multi-media presentations to web-based materials. Call (800) 688-8765 for information.

Consensus of the Fragile X Clinical & Research Consortium on Clinical Practices

The Guidelines represent expert consensus and not evidence-based studies. The clinical committee of the Fragile X Clinical & Research Consortium (FXCRC) could be thought of as a “consensus panel” since virtually every clinician in the USA seeing and managing a large number of patients with Fragile X syndrome and other Fragile X-associated Disorders is represented. When these guidelines were written there was an attempt made to review everything in the literature on the respective topics. However, there is not much literature to review on many of them. This lack of published data was one reason why this project was started — as an attempt to have at least some form of guidelines for best practices generated by consensus of all the physicians working on Fragile X, even if no studies existed. The project was also viewed as one way of generating priorities for future studies to provide evidence that will guide practice.

These guidelines, though not evidence-based (because no published evidence exists), were vetted through a formal process which consisted of the following:

  • Topics were selected by the clinical committee of the FXCRC.
  • These were presented to the entire FXCRC and the list revised based on input from the entire consortium.
  • The clinical committee chose a main author from the committee for each guideline paper, based on the person’s areas of interest and expertise. This person reviewed the literature on the topic and wrote the guideline based on what was available, including expert clinical opinion.
  • The written guideline was reviewed by another expert on the clinical committee and then by the entire committee.
  • These documents were then reviewed by a professional from the FXCRC who is not on the clinical committee but works in an area of expertise relevant to the guideline paper.
  • After this second level of review and revision, the documents were submitted to the entire FXCRC for review. The posted guidelines all earned consensus agreement from the members of the FXCRC that they represented best practice recommendations, based on current knowledge and practice from Fragile X clinics and clinicians.

The guidelines are meant to reflect the best information we have at any given time, and thus they are not “set in stone” but are expected to be documents that change as they are updated, revised and improved as new information becomes available through publications and through FXCRC projects. They will be reviewed and revised to incorporate new information every two years by the clinical committee of the FXCRC.

Documents

Children whose development is affected by Fragile X syndrome are eligible for special education services. Part C of the Individuals with Disabilities Education Act (IDEA), a federal law, provides for services to children from birth to 3 years of age. Part B of IDEA mandates a free public education for children who qualify from the ages of 3 to 21.

IDEA requires a multidisciplinary evaluation to determine if the child qualifies for special education services. This means that professionals from a variety of fields (medicine, psychology, occupational therapy, etc.) and the parents of the child collaborate to assess the child’s strengths and needs and determine appropriate educational services.

Every child eligible for special education has either an Individualized Family Service Plan (IFSP, for children birth to age 3), or an Individualized Education Program (IEP, for children age 3-21). Both of these programs specify the details of a child’s educational plan.

Intervention varies and is based upon the child’s individual needs. Areas that may be addressed include:  speech and language, cognition, behavior, sensory-motor and academics. Settings range from home-based programs for infants to a variety of school-based classrooms for older children.

Early Intervention for Infants and Toddlers

The Early Intervention Program for Infants and Toddlers with Disabilities is the program known as Part C of the Individuals with Disabilities Education Act (IDEA). It is also known as Child Find.

Part C is a federal grant program that encourages states to set up programs for young children with disabilities and their families. Currently, every state has a Part C program.

To find a program near you, talk to your child’s doctor or call your local public school.

Every state is set up a little differently. The National Early Childhood Technical Assistance Center (NECTAC) maintains a list with the contact information for State Part C Coordinators by state.

The Early Intervention Process

Referral to Part C

Parents can request a free evaluation if they are concerned about their child’s development. Other people can also make this request on behalf of parents, but no evaluation or services can take place without parental consent. This aspect is optional for states.

Screening of the Child

This is a quick look at how your child is developing. Your child’s doctor can do this. This is an optional activity for states.

Assignment of a Service Coordinator

The service coordinator is responsible for implementing the IFSP and will work with the family while they receive Part C services..

The Multidisciplinary Evaluation and Assessment

The evaluation and the assessment are often done at the same time.

The Multidisciplinary Evaluation

  • In order to determine the child’s eligibility for services, a multidisciplinary evaluation takes place by a team that may include speech-language pathologists, audiologists, occupational therapists, physical therapists, psychologists, social workers, and early intervention specialists.
  • A variety of procedures are used to determine if the child is eligible for services. They include observations, tests, interviews, play-based assessments, checklists, and other items.
  • A diagnosis of Fragile X syndrome may enable the child to receive services without an evaluation.

The Multidisciplinary Assessment

  • Once eligibility is determined, a multidisciplinary assessment is completed that may include the same people who did the evaluation.
  • An audiologist may perform a hearing test, as ear infections are common in this population.
  • Occupational therapists may observe fine motor areas such as the grasp, states of alertness and overload, reactions to sound, light, and touch, and other sensory-motor areas.
  • Physical therapists may watch for balance, gait, posture and movement issues.
  • Speech pathologists attempt to determine both receptive (listening) and expressive (speaking) language levels. If the child is not yet talking, the speech pathologist may try to determine language comprehension using augmentative language devices (picture boards, etc.).

Parent Preparation

  • Parents are an integral part of the team, and their input is vital. Parents need to make the team aware of conditions that will help lessen anxiety— such as making the environment calm and free of distractions and sensory overload.
  • The assessment may take place in the child’s home, where the team member brings toys and test materials for administration in a familiar environment. It can also take place in a school or special education center, with the parents and professional team members participating.
  • Parents can prepare for the process by learning as much as they can about unfamiliar concepts and terminology, talking to other parents about the process, and writing down their questions and concerns.
  • It is important for parents to realize that they know the most about their own child and may know more about Fragile X syndrome than some of the professionals on the team. Parents may wish to bring brochures about FXS, the website address of the NFXF, and other materials to share with and educate team members.

Questions to consider prior to the assessment

  • What time of day is your child at his or her best?
  • Will your child be overwhelmed by strangers in strange places? Might it be preferable to conduct the assessment in your home?
  • Who will be conducting the procedures, and what are their roles?
  • What types of tests will they use, and what do they measure?
  • Are formal tests the best way to determine your child’s strengths and weaknesses? Would more informal, play-based assessments be more effective?
  • How long will the assessment take?
  • What helps calm your child to ensure his or her participation?
  • What should you bring with you? Favorite foods, toys, videos of your child in various situations?

The Individualized Family Service Plan (IFSP)

This is a written plan that details the early intervention services.

  • The IFSP must be created within 45 days of the referral, be reviewed every six months or more often if needed, and formally evaluated on an annual basis.
  • No services are provided without the written consent of the parents.

Preparing the IFSP

  • After the assessment, a meeting is held with the parents and all the professionals involved. The team will present test results, including scores, observations, and recommendations for services.
  • Parents may be surrounded by a variety of special educators and may be intimidated and hesitant to contribute to the discussion. However, given that parents know their own child better than anyone and may extensive knowledge of Fragile X syndrome, should approach the meeting as partners in decision-making, not as recipients of the special education team’s decisions.
  • Parents should also bring their lists of concerns for their child and ideas for goals.
  • The team, including the parents, will write a plan for addressing the unique needs of the child and family. This document is the Individualized Family Service Plan.

IFSP Content

  • Description of the child’s current development.
  • The family’s resources, priorities, and concerns.
  • Outcomes expected, and how the family might make progress toward reaching them.
  • Services needed to help the child and family reach the outcomes discussed, including length, duration, frequency, intensity, and method of delivering the recommended services.
  • Statement that the service is provided in the natural environment to the extent possible.

Possible Early Intervention Services

  • Assistive Technology
  • Audiology
  • Family Training, Counseling and Home Visits
  • Health Services
  • Medical/Nursing Services
  • Nutrition Services
  • Occupational Therapy (OT)
  • Physical Therapy (PT)
  • Psychological Services
  • Respite Care
  • Service Coordination
  • Social Work
  • Special Instruction
  • Speech-Language Pathology (SLP) Services
  • Transportation
  • Vision Services

Types of Goals for Infants and Toddlers

  • Physical therapy goals might include those that help with low muscle tone, including posture and feeding.
  • Speech-language pathologists will help with receptive and expressive language goals, working on comprehension of language and means of expression, whether verbally or with augmentative devices (such as pictures, language boards, or signs).
  • Occupational therapists help with a variety of sensory issues such as over- sensitivity to touch, noise, crowded rooms, and certain lights. They can also help with sleep issues.
  • Occupational therapists and speech-language pathologists may contribute ideas for oral-motor stimulation to help sucking, chewing, and swallowing.
  • Early intervention specialists can help design goals to stimulate early play and cognitive development.
  • Social workers and psychologists should be available to help the family cope with the diagnosis and intervention needs.

Where Services Are Provided

  • The services should be provided in the child’s natural environment, including the home and community environments that are typical for infants and toddlers of the same age who do not have a disability.
  • The family can provide information where their everyday activities occur. For example, natural environments can include the home, neighborhood, parks and recreation centers.
  • When services are offered in the home, various professionals can teach activities to parents and/or caregivers and have them practice with the child between sessions (speech games, feeding ideas, massage, exercises, etc.).
  • For services not provided in natural environments, the IFSP must state why.

How Services May Be Provided

  • Speech pathologists need to work with occupational therapists to ensure that the child’s sensory needs are considered when addressing feeding and talking.
  • Speech therapists and early intervention specialists may work together to create augmentative communication devices (picture boards, etc.) for children who are delayed in learning to talk.
  • For children with Fragile X syndrome, it is important to establish a routine with all provided services. This helps greatly in reducing their anxiety.
  • The various therapists and teachers should also provide visual cues to help children anticipate and follow the sequence of their visits. If the speech/language pathologist comes to the home every week, it can be helpful if she or he always brings a bag of toys or a certain stuffed animal. This helps your child identify and anticipate the visit. When the therapist maintains a specific visual schedule, the child learns to adapt and participate more readily.

Family Rights

  • Parents should be provided with written copies of their rights under Part C.
  • Parents should receive copies of all written reports and records.
  • Parents must give written consent for the child’s evaluation and prior to the child receiving services.
  • If parents have a concern or complaint, they should talk to their service coordinator and the service provider.
  • If resolution cannot be reached at the informal level of discussion, then the parents or professional involved have formal remedies of mediation, including the filing of complaints and an administrative hearing, if needed.

Additional Information

Download the model IFSP form published by the U.S. Department of Education.

Model IFSP Form

Additionally the NECTAC provides a listing of State Examples of IFSP Forms and Guidance.

Transition Plan at Age 3

Requirements

  • A transition plan must be developed for the child as part of the IFSP no later than 90 days prior to the child’s third birthday to ensure the smooth transition into Part B services.
  • At age 3 the services a child with a disability receives are provided by the preschool programs through the local school district—also known as Part B of IDEA. There is also an eligibility process at this stage if parents want their child to start or continue receiving services.

Ideas for Parents

  • At the time of this transition, families need to explore and visit available options for their child’s educational services. School systems may offer a variety of services for preschoolers with special needs. They may offer some special education within a regular preschool class. They may also have early childhood special education classes, where all of the children have some type of developmental delay or disability.
  • For the child with FXS, parents need to look at the setting, services, and personnel involved in the early childhood program. Multidisciplinary services offered in a structured, calm setting, with an established routine, many visual cues, and provision for calming places and activities are all important for the preschooler with FXS.

Website Resources

Useful educational resources available in print, DVD, online and even smartphone & tablet apps.

Smartphone & Tablet Apps

General

IEP Books/DVDs

IEP Websites

Math

Reading

Sexuality

Writing

Whether you have decided to home school your child for a year or for an extended period, developing a curriculum can be a challenge. Start by setting goals for your child, research and experiment with ways your child learns, review various curriculums, and put together a program for your child. Here are websites to get you started:

A Practical Approach for the Classroom

Lesson Planning Guide for Students with FXS

This Guide is intended for classroom teachers who may have little or no exposure to Fragile X syndrome (FXS). Our goal is to help make the teaching and learning environment from preschool through high school more effective, more efficient, and more rewarding for teachers and the student(s) with FXS who come under their care.

This Guide provides practical information that includes:

  • A background on Fragile X syndrome.
  • Descriptions of behavior and learning styles.
  • A discussion of educational and community resources.
  • Sample lesson plans for children with FXS at a variety of developmental levels.
  • Strategies to facilitate the inclusion of children with FXS.

Note: Special thanks to NFXF members Randy & Diane Dobslaw, and in honor of their son Brett, whose generosity enabled this publication. This guide also owes a profound debt of gratitude to Dr. Marcia Braden, whose original work, Curriculum Guide for Individuals with Fragile X Syndrome, is incorporated extensively throughout the guide.

Additional Resources

General Links for Teachers

Additional Resources can be found on Educational Resources.

A variety of therapies can be helpful in addressing many of the issues seen in Fragile X syndrome. Because the impact of Fragile X is so varied, it is important to do a careful evaluation of the individual’s abilities and difficulties in order to tailor a treatment plan to address specific needs.

There are many other strategies that may also be helpful to individuals with Fragile X syndrome in communication and social development. There are also a variety of alternative therapies that your child may benefit from and for you to consider in the development of your child.

An issue of concern for many parents is toilet training and we continue to offer and create materials on this subject.

 

Sensory Diet

Sensory Diet Concept

  • A sensory diet is an occupational therapy intervention strategy devised to attain and maintain appropriate arousal states throughout each day.
  • A sensory diet consists of a carefully planned program of specific sensory-motor activities that is scheduled according to each child’s individual needs (Wilbarger & Wilbarger, 2002) and each family’s schedule and resources.
  • A sensory diet can help maintain an age appropriate level of attention for optimal function to reduce sensory defensiveness.
  • Like a diet designed to meet an individual’s nutritional needs, a sensory diet consists of specific elements designed to meet the child’s sensory integration needs.
  • The sensory diet is based on the notion that controlled sensory input can affect one’s functional abilities. Martin (1991) states in Principles of Neuroscience:Sensory systems are not only our means for perceiving the external world, but are also essential to maintaining arousal, forming our body image and regulating movement.

Wilbarger & Wilbarger’s (2000) comprehensive approach to treating sensory defensiveness includes

  • Education and awareness
  • A sensory diet
  • Other professional treatment techniques.

One such technique is the Wilbarger Protocol or Therapressure technique, which uses deep pressure to certain parts of the body followed by proprioception in the form of joint compressions. The Wilbargers also have a specific protocol for addressing oral sensory defensiveness.

Either of these strategies is used in combination with an overall sensory diet which coordinates sensory motor activity into the life routine of the individual it is designed for. It is critical that this protocol is not used in isolation and that it is initiated and monitored by an appropriately trained occupational therapist.

The How Does Your Engine Run? Program (Williams & Shellenberger, 1994) is a step-by-step curriculum that teaches children simple changes to their daily routine (such as a brisk walk, jumping on a trampoline prior to doing their homework, listening to calming music) that will help them self-regulate or keep their engine running “just right.”

Through the use of charts, worksheets, and activities, the child is guided in improving awareness and using self-regulation strategies. The use of this program greatly enhances the overall structure and effectiveness of the sensory diet.

We know that difficulties with sensory integration can have a profound effect on a child’s participation in everyday childhood “occupations” – play, school and family activities.

  • Collaboration between the therapist, teacher and parents is the most efficient way to understand the child’s behavior and unique sensory needs.
  • The “therapist, teacher, parent” team must work together to successfully implement a sensory diet, to support the child’s performance in roles and occupations across multiple environments.

Typically, a sensory diet is best designed by the family and therapist together. The therapist utilizes the direct treatment time to learn the individual child’s “formula” for attaining and maintaining appropriate sensory reactivity and arousal modulation.

Use of the Sensory Diet Template

The sensory diet typically is comprised of:

  1. A Schedule of the Key Events in the individual’s day – serves as the guide for when to introduce the specific sensory diet activity
  2. Sensory Diet Activities
    1. The sensory diet activities are designed for the individual but are based on sound neuroscience principles about how the brain takes in and makes use of sensory input to create optimal states of arousal and performance.
    2. The neuroscience evidence suggests that several key types of sensory input have the qualities required to produce these effects.
    3. The key types of sensory input include input to the touch, pressure, muscle and joint receptors (tactile and proprioceptors), movement input, oral tactile/proprioceptive input, respiration, and auditory/rhythm input.
    4. An occupational therapist trained in sensory integration has the expertise to know how to use these neural principles to design an appropriate sensory diet.
  3. Transition Strategy/Routines for Success

The sensory diet allows you to anticipate the events of the day (transitions) that need extra sensory support. Typically, these sensory supports are set up in routines to ease the transition. The types of sensory input are similar to those in the sensory diet activities.

Download

References

How Does Your Engine Run Program – aka: Alert Program (www.alertprogram.com)

Authors
Sarah'Mouse' Scharfenaker, MA, CCC-SLPSarah “Mouse” Scharfenaker, MA, CCC-SLP
fondly known as “Mouse”, is vice-president, CFO and co-founder of Developmental FX. She has worked in the fields of Fragile X syndrome and neurodevelopmental disorders for more than 25 years. She received both her undergraduate and graduate degrees from the University of Montana, Missoula.
Tracy Stackhouse, MA, OTRTracy Stackhouse, MA, OTR
a Colorado native, is president and co-founder of Developmental FX. She is a leading pediatric occupational therapist (OT) involved in clinical treatment, research, mentoring, and training regarding OT intervention for persons with neurodevelopmental disorders, especially Fragile X syndrome and autism.

Source: Sensory Diet Handout – Developmental FX (2008)

What are Fragile X Clinics?

  • A Fragile X clinic provides individuals and families affected by one or more of the Fragile X conditions with a comprehensive evaluation and treatment recommendations. These are supported by the latest medical, educational, and research knowledge available.
  • All of the clinics provide medical services (including medication evaluation and consultation) supervised by a Medical Doctor. Multidisciplinary services and/or referrals, such as occupational therapy, speech and language therapy, behavioral therapy and genetic counseling, are available within the institutions or through referral.
  • Many of the clinics also participate in collaborative research efforts with other Fragile X clinics and professionals.
  • All of the clinics have an emphasis on Fragile X syndrome (FXS) while also providing services and/or referrals for Fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI).
  • Besides serving families closer to where they live, these clinics also benefit the Fragile X community by sharing knowledge, research, and clinical experience with one another. This in turn helps the patients whom they serve.

Fragile X Clinical & Research Consortium (FXCRC)

  • The Fragile X Clinical and Research Consortium (FXCRC) was created in 2006 by the National Fragile X Foundation (NFXF) in response to the growing needs of families whose members have one of the three identified Fragile X conditions — Fragile X syndrome (FXS), Fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI). Each clinic is staffed by knowledgeable specialists experienced in the evaluation and treatment of all the conditions.
  • Though each clinic operates independently, they often collaborate with one another, sharing resources, participating in research projects, and attending meetings of the consortium.

Here at the NFXF

  • The NFXF is also working hard to help establish additional clinics throughout the US and to help existing clinics become more comprehensive in their delivery of services.
  • The goal of the NFXF is that all families will have access to quality evaluation, treatment recommendations and referrals within a reasonable geographic distance from their homes.

How do you select an appropriate Fragile X clinic?

The National Fragile X Foundation encourages you to contact us directly. Our professional staff is prepared to help you choose the most appropriate FX clinic for your individual and family needs. Please call us at 800-688-8765 or send an email to treatment@fragilex.org.

Additional Information

Why should you visit a Fragile X clinic? Because you won’t hear, “Fragile what?” You will have the opportunity to meet with a team of people who will be able to provide guidance in many areas of raising your child or children. Just as importantly, once you establish a relationship with the Fragile X doctor, he or she will become a resource for your local doctor.

Where to Begin

In some cases, you begin by calling the main hospital/facility number to make the appointment. Ask to speak to the Fragile X clinic coordinator. When you talk to the coordinator you can discuss your concerns about your child or family member and what you hope to get out of the visit. Then, ask about the following:

  • What does a typical schedule involve? Some clinics conduct evaluations over two days, which requires an overnight visit. Others may require only several hours.
  • In addition to seeing a medical doctor, what evaluations are offered and by whom? Examples might include speech, occupational, physical and behavioral therapy, and genetic counseling.
  • What other specialists are available? For example: psychologists, audiologists, neurologists, cardiologists, ophthalmologists, etc.
  • Are referrals made to local providers in your area?
  • After the evaluation, will the medical doctor be available to review and discuss the results that same day? Will each specialist be available or will the medical doctor review the findings of each specialist with you?
  • When will a written evaluation/report be available? Will it consist of separate reports by each clinic specialist or one report? Can you request that the report be sent to your providers, teachers, therapists, etc.?
  • Who will be available to interact with your local providers to make sure treatment recommendations are clarified, discussed and implemented?

Also Ask About

  • What written or online materials will be available? A list of state and local resources? Handouts or articles on Fragile X for you to take back to school personnel, doctors and other providers?
  • Will there be a possibility to participate in research? Ask about participating in the FORWARD Registry and Database that uses information from your clinic visit to answer important research questions.
  • What kind of insurance does the clinic accept? (If you do not have insurance, ask if there are alternative payment plans and/or opportunities to participate in research trials.)
  • Do they have recommendations for lodging facilities to meet your needs regarding price, proximity to the clinic, dining opportunities, etc.? Do any of them offer discounts for those making hospital visits?
  • Ask the clinic coordinator about the “Fly With Me Fund” travel grants that can help with expenses related to your visit.
  • What restaurants, grocery stores and other attractions are in the area? (You may want to make a mini-vacation of the visit.)
  • Is there is an NFXF Community Support Network (parent support) group or local family you could talk to about the area and about your visit to the clinic?
  • A special consideration for those with FXTAS: Make sure to inquire about hotel and transportation/wheelchair issues.

The Clinic Process

Each clinic has an intake form for which you will most likely need the following:

  • Information about your immediate and extended family, including diagnoses of any individuals — living or deceased — with developmental delays, behavioral disorders, neurological disorders (including late onset conditions), fertility issues, and any genetic testing that has been done. Bring photos of any family members who may have Fragile X syndrome (FXS).
  • Information from baby books, scrapbooks, and journals that would note ages of developmental milestones, illnesses, medication (including any reactions), therapeutic interventions, etc.
  • If your visit is for FXS, bring genetic test results, medical or psychiatric records, psychological, speech and occupational therapy evaluations, and any other records from the school and teachers.
  • If your visit is for FXTAS, bring MRI reports, neurological and/or psychiatric records, and any journal of symptoms and their progression.
  • If your visit is for FXPOI, bring records of medications, medical, menstrual/pregnancy history, and any questions related to medical management or reproductive issues/options.

The wait to be seen at a clinic varies, but in some instances can be as long as 3-6 months.

Thinking Ahead

As you prepare for your visit, begin to write down questions for the clinic staff that may not have been covered in your initial discussion with the clinic coordinator.

Please know – and continue to remind yourself – that no question is silly or strange or unwelcome. If you are wondering about something, it is virtually certain that the very same question has occurred to many other people – and Fragile X professionals have probably heard it. Clinic staff are well-informed, trained, and compassionate, ready to answer (or find out the answer to) any question you may have. So please do ask! Typical questions include:

  • Why does my child/family member do __________?
  • What can or should I do in these situations?
  • What can I expect from this type of therapy or medication?
  • Is it wrong to _________?

Don’t Forget

 

  • To bring favorite toys, puzzles, blankets, foods and other comfort items for your child(ren).
  • To ask for special accommodations if you feel they would help. Example: If staying in the waiting room is difficult for your child, perhaps the staff can call you on your cell phone when they are ready to see you.
  • To bring books, music, laptop computers, iPads and other enjoyable items for yourself. (Headphones in waiting rooms can come in very handy.)
  • To build in some downtime during what can be a highly scheduled visit. If at all possible, find some time to visit a park, zoo, or museum, attend a sporting event, go swimming, or anything else your family likes to do.
  • To treat your clinic visit as but one step in your family’s long-term education about Fragile X.

 

If you have questions about planning your visit, please send an email to treatment@fragilex.org

Here what the Jayne Dixon Weber, NFXF Director of Education & Support Services (and parent) has to say:

While every Fragile X clinic is set up a little differently, they all offer similar services. They are staffed by people who understand Fragile X.

Examples of evaluations offered at clinics through an initial intake include: medical, speech, occupational, physical and behavioral therapy, and genetic counseling. Additional specialist services may include referrals to psychiatrists, psychologists, neurologists, cardiologists, ophthalmologists, dentists, social workers, and audiologists.

After your visit, most clinics will provide you with a written summary of all evaluations that took place, along with recommendations you can take back to your local doctor and/or school district.

Visiting a clinic does not replace the need for a local doctor. It is still very important that you have a family physician who can handle the everyday ailments of your child(ren), but it is crucial that this doctor is willing to work with you on your specific issues regarding Fragile X. Once you establish a relationship at a Fragile X clinic, the clinic doctor becomes a valuable resource for your local doctor. You all become a team with all of a team’s advantages.

If you have never been to a Fragile X Clinic or it has been a while, or if you are having issues with behavior, school or therapies, or if you want to get involved in clinical trials, I would suggest you visit one in the near future. Once you make that initial visit, I would recommend yearly follow-ups. Visiting a clinic keeps you in-tune and hands-on with what‘s going on in the Fragile X world. It also gives your clinic doctor an opportunity to keep abreast of your child’s health needs, which will make it all the more effective when your local doctor has occasion to consult with your clinic doctor about your child.

Another important point: I think you will be happier with your visit and get more out of it if you take an active role in the process ahead of time. Before you call the clinic coordinator, think about the concerns you have for your child(ren), what you would like to know more about, and any specific questions you may have. Call the coordinator and talk to her about these matters, and about what you hope to get out of your visit. You are also going to want details of what is going to happen so you can adequately prepare your child. Do not be afraid to ask any question. And before ending the call, I always like to ask the clinic coordinator one last question: “Can you think of anything I haven’t thought of?”

When you plan your clinic visit, be sure to think about the big picture. That most certainly includes preparing your child emotionally. This will be a huge change in routine, including the travel (drive or flight), the actual clinic visit, a possible overnight stay, maybe a second day of clinic visits, the trip home, and then the readjustment back into family life. For most families, this represents a major undertaking.

What do families typically say to me about their clinic visit?

  • It is so comforting to talk with someone who understands my child.
  • It is so nice not to have to explain everything—again.
  • I don’t have to make excuses or try to explain my child’s behavior.
  • We are like family to them (the doctors).
  • With report in hand, my school takes me more seriously.
  • I came home feeling re-energized.

Beginning in 2008 and continuing to the present, the U.S. Centers for Disease Control and Prevention has supported the Fragile X Clinical & Research Consortium (FXCRC) through grants designed to increase our understanding of Fragile X syndrome.

One of the best ways for families to help advance our understanding and to improve treatment is to become part of the FORWARD Registry and Database. FORWARD stands for “Fragile X Online Registry With Accessible Research Database”. Individuals and families can join the Registry without becoming part of the Database. But the two are designed to work together to increase our scientific and clinical understanding of Fragile X syndrome. When visiting a Fragile X Clinic you will be provided with information about the Registry and Database and you will be given an opportunity to participate if you are interested.

FORWARD Registry
  • Open to everyone regardless of Fragile X mutation status.
  • Collects basic demographic information on an individual.
  • Collects information as to whether you/family members are interested in participating in research so that researchers can determine who might be eligible for their research.
  • Can enroll in Registry without participating in Database.
  • Complete the Registry form only once.

FORWARD Database
  • Open only to individuals with Fragile X syndrome (FXS) regardless of age.
  • Collects more detailed information from family AND clinician on how individuals with FXS develop as they age to improve care and services to individuals and families affected by FXS.
  • Complete standardized forms on education, behaviors, medical history, medications, etc.
  • Complete some of these forms annually.
  • Allows researchers to determine who might be eligible for their research studies.

A Note About Privacy

All participants in the FORWARD Registry and Database will have their personal information stored securely at the clinic at which they were seen.

No personal identifying information is entered into the shared Registry and/or Database. This will help ensure that everyone’s individual information is kept private.

How do I Join?

You can learn more about joining the Registry or Database by contacting your nearest Fragile X Clinic.

The Fly with Me Fund provides financial assistance for families to travel to a Fragile X member clinic of the FX Clinical and Research Consortium (FXCRC) to receive the most appropriate evaluation and treatment services.

Applications must be submitted by the Medical Director or the Clinic Coordinator of the FXCRC clinic.

To begin the application process, please talk to the Clinic Coordinator when you schedule your appointment.

Special thanks to the Silver Family for their continuous fundraising efforts that help make this make this program possible.

Often when a child is diagnosed with FXS, parents call the NFXF and ask us about medication that might help treat or cure their child. There are many different aspects of medical treatment for FXS. These include treatment of behavioral/mental health issues, treatment for medically associated issues such as seizures, and medication treatments being investigated in “clinical trials” to directly impact the effects of the FMR1 mutation that causes FXS.Here we will describe some of the classes of medications that may be prescribed by physicians. Please note that this discussion is for general informational purposes only, and that the NFXF does not evaluate, recommend or endorse specific medications. Please consult your individual medical providers to address your particular circumstances.

Medications for Behavioral/Mental Health Issues

Your child’s physician can consider various classes of medications to treat behavioral and mental health conditions associated with Fragile X syndrome. Some childen with FXS benefit from medications that treat ADD, ADHD and other attention disorders. Other children who experience general anxiety, social anxiety, OCD and other perseverative disorders may benefit from different types of anti-anxiety medications. Parents often have to work with their child’s doctor in trying more than one medication before finding the best fit for their child. For children facing more significant psychiatric challenges, a number of available “anti-psychotic” medications may be of value.

Treatment of Related Health Issues

Children with FXS have a higher incidence of various medical/health issues that often require medications. Prominent among these are anti-seizure medications and antibiotics for recurrent ear and sinus infections. Some babies with FXS also have problems with gastrointestinal reflux and may be prescribed medication to help treat their symptoms.

Clinical Trials for Medications

Families often read or hear about medications to treat FXS being developed or actively used in research trials. Many of these medications are under investigation for their potential to treat the symptoms of the condition, particularly its cognitive and behavioral aspects. It is therefore important to understand that clinical trial medications are not available through your health care provider.

A clinical trial is a study in which the participants are given the drug for a specific period of time and are carefully monitored for both positive and negative responses. The trials proceed through different phases to assess appropriate dosages, possible toxicity, clinical outcomes, etc. Clinical trials usually occur within a medical center, often where there is a Fragile X Clinics and a researcher (a “P.I.” or primary investigator) who heads up the study. We have more information about clinical trials and possible opportunities to participate on our Opportunities for Families page.

  • IDEA 2004 mandates educational alternatives for eligible children and adolescents with developmental disabilities through age 21, though there are some states who offer services beyond that age.
  • It is important to note that once the young adult leaves the school system, it is the parents’ responsibility to set up all aspects of their child’s day.
  • Once the young adult leave the school system, each state provides an array of support for the adult person with a developmental disability, based on eligibility, need, and the wait list for services (and many states have a wait list for adult services).
  • The programs and services offered vary not only by state but also by localities within each state, and the adult services are offered by various agencies and these services often vary from agency to agency.
  • There is always the option to “private pay” for services if the wait list is too long or you wish to create programming that is not offered by any agency.
  • For more information about the adult services in your area, contact your local disability organization. If you do not know that organization, contact your local/nearest Arc

Smoothing the Transition to Successful Adulthood
  • Combination of video vignettes and written resources, designed to be used in conjunction with each other.
  • Thanks to the generosity of our supporters, the following information is provided to you, on our website, at no charge.

Table of contents

The following sections of the Adolescent and Adult Project are accompanied by videos and are referenced in the document.

  1. Behavior, Mental Health, and Medication
  2. Social Development
  3. Living Settings
    • This section does not include video vignettes however, all other sections include vignettes that will often apply to living settings including home, group home and independent living environments.
  4. Transportation
  5. Employment
  6. Issues in Sexuality
  7. Disability Organizations, Services, and Resources

More people with Fragile X syndrome (FXS) are attending college than ever before. This is partly because of increasing awareness regarding the sometimes hidden strengths of those with FXS, and also because colleges are increasingly welcoming people who have different abilities. The possibility of attending college is still a new idea for many people with FXS and their families, and as the NFXF learns more about the expanding opportunities in this area, we will convey the information to you. Meanwhile, we have compiled a few resources to assist you in seeking more information.

Books

  • College Success for Students With Learning Disabilities: Strategies and Tips to Make the Most of Your College Experience
    By Cynthia Simpson and Vicky Spencer
  • K&W Guide to Colleges for Students with Learning Disabilities, 10th Edition (College Admissions Guides)
    By Princeton Review, Marybeth Kravets and Imy Wax
  • Think College: Postsecondary Education Options for Students with Intellectual Disabilities
    By Meg Grigal and Debra Hart

Websites

 

Overview

  • Each state provides an array of residential programs. These vary not only by state but by localities within each state. The range of residential services also varies among provider agencies.
  • Residential services may range from independent apartments with minimal supervision to supervised apartments, group homes, and host homes (where a child lives with another family).
  • Some agencies provide both residential and vocational/day programming services, while others provide only one of these services—meaning the person and family must deal with two sets of providers.
  • There are also residential settings for families in a position to pay privately. See the “Living Settings By State” section of the NFXF Adolescent & Adult Project (link below).
  • Because there tend to be extensive waiting lists for residential services in many states, parents often look for other options. One trend is parents getting together in a community to set up independently operated programs for their children. When parents do this, the options are almost endless. Some of them are listed below.
    • Note that not every program founded by parents will have a name—many will just get together and do what it takes to meet their children’s needs.
    • A group of parents may coordinate their efforts to buy a house and pay for a care provider to be responsible for their children.
  • Transition to a residential program should ideally be gradual. One method of transition that parents may find helpful is to seek respite services at a residential agency before their child moves in. This affords their child the opportunity to both test the environment and meet other residents and caregiving staff.

Success in living away from home can be maximized by:

  • Teaching your child independent living skills while he or she is still living at home.
  • Investing time to find the best living situation for your child, as there is no one best way to approach this aspect of his or her life.
  • Cultivating friendships for your child.
  • Finding dedicated and caring people willing to work with your child and family.
  • Making sure your child is active and engaged in the community during the day.
  • Ongoing family involvement and advocacy.

Contact your local disability organization to find out about the services in your area and to get your child on the appropriate waiting lists.

 Additional Resources

  • There is a range of employment and day services you can consider for your young adult – everything from a job (full or part time, and with/without a job coach), to volunteer work, to a supervised work crew, to a sheltered workshop employment, to adult day programming. A combination of activities is also often used. There are agencies within each state that provide services in these areas.
  • The programs and services offered vary not only by state but also by localities within each state, and the services offered also often vary from agency to agency.
  • Some agencies provide both employment/day programming and residential services, while others provide only one – meaning the person and family may have to deal with two sets of providers.
  • One other aspect of your child’s day to consider is to find physical activity (exercise) for your child to do each day. Many local recreation centers offer programs for people with varying abilities or they will include your child into their regular programming.
    • Recreation center activities may include sports or craft activities or even dances.
    • An added benefit to utilizing the recreation center is the social component that is present at the center, which is so important for your child!
    • Call your local recreation center to see what activities your child can participate in.
    • If you do not have access to a recreation center, maybe you can form a neighborhood walking group. Maybe a local church or school will let you bring in a group for craft projects or dances.
    • With a little work you can keep your child active and healthy.
  • Successful jobs/days can be maximized by:
    • Spending the time to find the right job/activity for the day, including the length of time and time of day
    • Finding the right mix of jobs/activities for the week
    • Finding “natural supports” at a job
    • Finding dedicated and caring people willing to work with your child and learn about Fragile X
    • Ongoing family involvement and advocacy
    • Keeping your child active and engaged in the world around him or her
  • Contact your local disability organization to find out about the services in your area and to get your child on the appropriate wait lists.

For additional information see the Employment Section of the NFXF’s Adolescent and Adult Project. There are video vignettes as well as written materials on all aspects of employment and vocational activities, including information on state and local resources:

Resources

Many aspects of daily life can be challenging for people with Fragile X syndrome (FXS), but the development of daily living skills is very important for the growth of all people with FXS. Below you will find strategies for eating, sleeping, hygiene, and toileting. You will also find strategies for special events that take place outside the home, such as taking vacations and airplane travel. The importance of some type of daily planner cannot be over-emphasized.

Ten Rules of Time-Out

When consulting with parents regarding behavior issues, the topic of time-out comes up during the majority of my conversations. Parents and professionals alike have used time-out as an effective tool for many years—even before it was called time-out. Research has supported its usefulness with typically developing children as well as those with delays such as ADHD. Most parents whom I have consulted for say they have tried time-out at one time or another, and frequently state that it did not work for them. This was often puzzling to me, so in an attempt to find effective intervention strategies I probed into how the families were using time-out and where the problems were occurring. I had them demonstrate their techniques for me. These conversations and observations revealed that it was not time-out itself that was ineffective, but its application to children with Fragile X syndrome. As I worked more extensively with these families, I found time-out could be an effective part of a comprehensive behavior plan, but only when I modified the process to fit the physical and developmental profile of the particular children. Clearly, adaptations were needed for this to be a useful tool for them. This accords with our knowledge that behavioral strategies designed and implemented with children who are typically developing frequently prove ineffective for those with special needs unless adaptations are employed to address their specific profiles. In order to understand the adaptations, one must first understand the original construct. Clinically, time-out is considered a punishment for inappropriate behavior. It is defined as time away from positive reinforcement. Many counselors, researchers and therapists use variants of this theme to define the technique. This differs slightly from removal from a situation as a natural consequence. For instance, a child who spits his or her food during dinner loses the privilege of sitting with the family to eat. Or a child who acts out in circle time may be asked to leave the group. This is a natural consequence for that particular behavior, and can be used effectively in many situations. A notable exception would be if the original purpose of the behavior was to avoid the group activity. Time-out is typically used for young children, but I have found it can be effective for children with FXS who range from preschoolers up through “tweeners.” I hesitate to place a firm age limit on this technique, as children are so different and individual strengths and challenges must be considered. I have found the following ten time-out “rules” to be the keys to its success. These strategies are based upon the fundamental principles of time-out, while incorporating adaptations that address the fact that children with FXS have language and attention difficulties that are best accommodated through additional considerations for repetition, consistency and predictability.

  1. Make time-out a process, not a place. If time-out is linked only to a specific place in the home or classroom, you are limited in both how and where you can use it. If you place your child on a kitchen chair or in his room as a consequence for hitting, what are you going to do if he hits in the grocery store? My recommendation is to sit the child down right where the infraction takes place, or if they are already sitting, simply turn them around so that they are either not facing you or the group. If you are in the grocery store, My recommendation is to sit the child down right where the infraction takes place. Yyou can sit them down right in the aisle. Make sure that you position yourself so that they cannot leave and or pull down stuff from the shelves. They are now in time-out. This differs from the information that is available in many parenting books and on the web. It is an important modification for children with FXS for many reasons, several of which will be addressed in the following recommendations. The biggest and most common obstacle that parents have cited to me about using time-out is getting the child to the designated chair, corner or step. This can be eliminated without rendering the process ineffective. It is a slight but crucial change in thinking: It’s not the location that matters- it’s the time away from your attention. The act of removing the child from your attention is, in the clinical sense, a punishment, and a deterrent for the behavior. Most children want attention. (Note: Although children with FXS may exhibit social anxiety, they are social beings. For children with autism, time-out presents an additional challenge, and it often is not effective for them. Consultation with a psychologist or behavioral interventionist is recommended.) It is important to note that although you can and should use time-out in a variety of places, you want to establish your processes at home and practice in a controlled setting before you take your show on the road. You would not initiate this process in a grocery store, but after you have used it successfully at home and then perhaps at Grandma’s house, you would be ready for public places.
  2. Make sure time-out means time away from your attention. This is the most fundamental part of time-out, and one that appears to be the most difficult to implement. If you place children in time-out and talk to them about what they have done and why they are there, they are not in time-out; they are simply on the kitchen chair getting a lecture or engaging in an argument. Neither one of these strategies is effective in changing behavior. Yes, you will need to communicate with your child in time-out, but in a very structured and routine way.
  3. Decide on a simple and consistent phrase before you start.The use of a consistent phrase serves several purposes in the time-out process, and it should contain two basic components. The first part lets the child know what he did and that it is wrong. The second part lets the child know what is happening; it labels the process. So for a child who hits, an appropriate phrase would be, “No hitting, time-out.” This is very short for several reasons. Children with FXS typically have language delays, so more language will actually lead to less understanding. Most parents feel it is necessary to explain and rationalize the situation with their child. However, when you engage in discussion, you delay the time-out, which makes it more difficult for the child to link time-out with the undesirable behavior. By the time the child is actually in time-out, she may have forgotten what she did to get there.Consistency of language also allows you to change location without disrupting the routine. Consistency of language also allows you to change location without disrupting the routine. You cannot take the kitchen chair with you to Grandma’s house, but you can take your time-out routine and your phrase, “No hitting, time-out.” It is important to choose the phrase that you want to use ahead of time so that you do not have to think about what you are going to say in the heat of the moment. In addition, everyone who is involved in changing the child’s behavior should use the same phrase. Consistency, consistency, consistency! Using a consistent phrase also keeps you from engaging in discussions and arguments. You have a set, minimalist response to any comment: “No hitting, time-out.” Changing behavior is tough, particularly when you are initiating something new. Using this same phrase can be calming for you. Ultimately, “No hitting, time-out” reminds both you and your child what she did and why she is in time-out.
  4. Link time-out to a specific act or behavior. Time-out is not for generalized naughty behavior. We have all said, “That’s it! You have been whining and grumpy all day. You can go to your room for time-out until you can come down and be nice.” Or: “You sit on this chair until you can calm down.” In order for the child to understand why she is in time-out, it must be clearly linked to a behavior. Behaviors are things like hitting, kicking or biting. Time-out should not be confused with a time to organize oneself. It is not the same as going to the quiet corner for children who have sensory integration issues. It is not part of a sensory diet; it is part of a behavior plan. Implementing time-out effectively can be challenging, and it should be reserved for major offenses.
  5. Impose time-out immediately following the behavior. For time-out to be effective, you must establish a clear relationship between it and the undesirable act. This is particularly important for children with FXS, who have short attention spans and difficulties with sequencing and cause and effect. The shorter the time between the behavior and the time-out, the more easily the child is able to understand the relationship between the two-and the more effective time-out will be in decreasing the unwanted behavior.
  6. Do not engage in dialogue. On the way to time-out, or during the time-out itself, many children will attempt to get your attention by arguing. They may deny their involvement (“I didn’t do it”), blame another child (“Liam hit me first”), or comment on their feelings about you and/or your parenting skills (“I hate you, bad mommy”). If you address any of these comments prior to or during time-out, the child has your attention, and she is not actually in time-out. It is very difficult not to comment on these statements, and that is why it is important to use the previously determined phrase. “No hitting, time-out.” This is your mantra. It helps keep you from engaging with your child during the time-out process.
  7. Do not address behaviors that occur on the way. As stated in No. 6, children will attempt to get your attention any way they can. They will also attempt to delay time-out whenever possible. Hitting you, trying to bite you, and knocking down the planter next to the couch are all attempts to engage you and consequently delay or avoid time-out. If you address these behaviors, the child will learn quickly that kicking or spitting will work in delaying the punishment, and he will continue to use them. By implementing time-out in the manner outlined in No. 1, you decrease the likelihood of additional provocative behaviors. You are not dragging the child to his room or lifting him onto the second step, so he has less of an opportunity to employ negative behaviors. The focus thus remains on the original behavior-hitting. It is important to note here that all children at sometime or other will attempt to use these strategies. Nobody wants time-out it is not fun. That is what makes it an effective tool.Nobody wants time-out-it is not fun. That is what makes it an effective tool. It is also important to note that children are not “bad” just because you’re having to employ time-out. It doesn’t mean your children are unusually manipulative or strategic. Our brains are simply designed to work this way. We all avoid things that we do not like and/or are unpleasant, and we repeat things that work for us.
  8. Adjust the duration of time-out to the child. Two commonly asked questions are: 1) “How long should the child stay in time-out?”, and 2) “How many times should I put her back?” These questions are related, since keeping a child in time-out beyond his ability to handle it often leads to him getting up repeatedly. Again, we need to think about how the brain works, and more specifically, how a brain with FXS works. The rule of thumb for time spent in time-out is one minute for every year, so a three-year-old child would spend three minutes in time-out. This works fine for typically developing children, but for children with FXS, I recommend cutting the time in half. Such children typically have attention issues that need to be considered. It would be unreasonable for them to be able to stay in one place for as long as a child their age without FXS. We also want the time-out process to be successful for all involved. Keeping children in time-out too long will result in frustration for parents, teachers and children. The second question is answered quite easily, but again can be quite difficult to put into practice. If the child leaves time-out, you need to put him back as many times as it takes until he stays for the predetermined amount of time. Remember, this is a punishment for a specific behavior. You put him in time-out and you need to tell him when it has ended. When the child attempts to leave the situation, remember to use your phrase rather than commenting on his leaving. If he gets up or attempts to leave and you say, “Now Justin, you need to get back in time-out,” or “I told you that you have two more minutes,” the child has your attention and is no longer “in” time-out. If the child attempts to get up or to leave, sit him back down and say “No hitting, time-out.” You have thus kept engagement with him at an absolute minimum, and the focus is redirected back to the original offense.
  9. Make time-out one component of a comprehensive behavior plan. Time-out is not a comprehensive behavior plan in and of itself. It is an effective consequence for many behaviors, but to change behavior one must institute a complete plan that addresses all the factors that may be influencing it, including medications the child may be taking, therapeutic and remedial interventions such as speech and occupational therapy, and environmental factors. Comprehensive plans by definition require the coordination and collaboration of parents and professionals.
  10. Use time-out in a consistent manner. Consistency is the key to success in any behavior plan-and the most difficult to employ. If you decide that a child should go to time-out every time she hits, then you need to follow through, even when you are out in public or even when the child is tired. If you start making exceptions, what you have actually taught the child is that sometimes you can hit and sometimes you cannot. This has the effect of strengthening the behavior. Still, consistency is difficult to maintain, so do not be too hard on yourself. As I have advised many parents, do not try to implement any behavior plan when you are tired or on a trip. Set aside a weekend when this is your priority. I know in our busy schedules this is easier said than done. But if you need to address a behavior effectively, a comprehensive plan requires an initial time investment. It will pay off in the end. It is also important to note that time-out expectations for a typically developing child may look very different than those for a child with FXS. Remember the ultimate goal for the procedure. In other words, do not get hung up on whether or not the child is sitting or lying down. That is not the behavior you are trying to change; you are trying to decrease hitting. I have found the modifications and guidelines discussed above to be very effective for children with FXS. I have successfully guided parents and other caregivers through this process and have implemented it during home consultations. However, as is the case with any comprehensive behavior plan, it is always important to consult with a professional for support and guidance in dealing with difficult and challenging behaviors.

Author

Karen RileyKaren Riley, PhD
is the interim dean at the Morgridge College of Education, University of Denver, a longtime educator in the field of disability, and a regular presenter at International Fragile X Conferences.

  • Children with Fragile X syndrome often have delays in toilet training. Read up on strategies for teaching this skill and then choose one or a variation of one to try with your child to see the response.
  • If your child shows some success, then continue the training. If your child is resistant or it appears your child is not ready, stop the process. Take a break – look at what worked, what did not work, and figure out how you want to approach it next time.
  • Your child will have success.

Additional information:

The following information have been collected for easy reference.

Books