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Published article about Fragile X and Us

Posted Jun 09 2009 11:31pm
This is Megan. She is a teacher at Shelby Hills Early Childhood Center. That's where Drew and Blake went to preschool. Megan contacted me about doing a research paper on Fragile X and wanted to use our family as her subject matter. Well, guess what? Her paper was so good, it was published! In the Association for Childhood Education International's Focus on Inclusive Education, a quarterly publication for the education community.


Megan was wonderful and spent time getting to know our family. We are so proud of her to see her article published! It is excellent for her and the cause of Fragile X Syndrome.

I am posting the article with permission from ACEI. Here it is:

Fragile X: I Have Heard of That, But What Is It?

Megan Theresa Young
Wright State University

It is said that you cannot understand where another person is coming from until you walk a mile in his or her shoes. After this project and having the opportunity to work with a family that has two children with fragile X syndrome, I wholeheartedly agree with this statement. During my teaching experience, I was able to observe the boys in their home setting as well as in the school setting. I became very interested in learning more about fragile X syndrome during my time with the family as well as exploring the alternative therapies they are currently using for their oldest son, Drew. For the sake of confidentiality, I have used family members' first names only and a pseudonym for their last name.

The review of literature includes information fragile X syndrome, how to cope with a diagnosis, and alternative therapies. The synthesis of literature review as well as information the Reyem family has shared with me highlight current research ideas and philosophies, It will be helpful for intervention specialists to understand how these findings can be applied in the classroom.

What is fragile X? I know you may be thinking this, because I wondered the same thing prior to this case study project. Mrs. Reyem told me during our first meeting that when people meet her for the first time, and the topic of her sons comes up, they often ask her the same thing. After this experience, I now appreciate how important it is for teachers, parents, and other family members to be knowledgeable about the condition. Moreover, as educators, it is critical to understand alternative learning settings available to children with fragile X syndrome.

The Genetic Link
Fragile X is the most commonly inherited form of mental retardation (Jin & Warren, 2003). People who are affected by this disorder have a faulty X chromosome. When looking at it under a microscope, it appears that the tip of the chromosome is broken off or dangling (Mazzocco, 2000). On the X chromosome, there are trinucleotide repeat expansions. One of the expansions is a CGG repeat, which is believe to be the reason for fragile X syndrome (Holmgren, 2006).

The CGG repeat is the chemical sequence that is on the fragile x mental retardation gene, the FMR1 gene. All people have a FMR1 gene, but when the person is affected with fragile X, his or her FMR1 has over 230 repeats, which is considered to be full mutation of the gene (Jin & Warren, 2003). When this gene repeats over 200 times, it silences the FMRP protein-the fragile X mental retardation protein. This protein is considered an important piece in brain development (Hall, DeBernardis, & Reiss, 2006). It may be necessary for FMRP to be present in the brain to complete the natural and typical connection of the synapses. The CGG repeats on the X chromosome naturally increase as the genes are passed along in reproduction (Oostra & Chiurazzi, 2001).

Carriers

Both men and women can be fragile X carriers. When a man is the carrier of the gene, he will pass the gene to his female, but not his mall, offspring. Since a man passes only a Y chromosome to his sons, he is unable to pass on the syndrome to males. When a female is a carrier, she will have a fifty-fifty chance of having a child with fragile X for each of her pregnancies (personal communication with Mrs. Reyem on April 28, 2008). One reason for the cause of this genetic imperfection could be due to a slipped strand mispairing during the DNA process (Oostra & Chiurazzi, 2001). Fragile X is also thought to be linked to the most common cause of autism (McNaughton et al., 2008). Approximately 1 in 4000 males is affected by this syndrome, and one out of 8,000 females is impacted (McNaughton et al., 2008). Females have been shown to sometimes compensate for their fragile X-inflicted chromosome with their other X chromosome, which alters the prevalence of the syndrome (Mazocco, 2000).

Fragile X Syndrome Characteristics
Physical differences associated with fragile X are abnormal facial features, including protruding ears and an elongated face, as well as issues associated with attention. Individuals also sometimes exhibit autistic-like behaviors, including echolalia, repetitive behaviors, flapping, and difficulties with speech and language (Jin & Warren, 2003).

Fragile X characteristics can also affect social skills. When children or adults with fragile X syndrome are faced with a social situation, they may experience over-arousal or anxiety (Hall et al., 2006). Behavior issues were noted in 74% of participants, including face hiding, fidgeting, not being able to stay seated, and hand biting when participants were involved in social interactions.

Mice in a study relating to anxiety (McNaughton et al., 2008) had their FMR1 protein eliminated, which simulates the same type of condition as a human with fragile X syndrome. The researchers found that these mice did have an overall lower frequency of social interactions and more social avoidant tendencies when compared to the control mice. The mice also showed atypical behaviors, such as climbing walls in the cages, as well as excessive grooming, when compared to the control mice in the experimental group.

Children with fragile X have higher social escape behaviors than children with Down syndrome, autism, and children without disabilities (Hall et al., 2006), and they may also have high cortisol levels, which elevate stress. The biological factors of the child's personality may mix with the environment and may cause the children to act in ways that are socially avoidant.

While observing Drew in his home, I noticed his use of tangential language, which is typical for children with fragile X. Tangential language refers to when a person goes on a tangent after hearing something familiar. Individuals affected by fragile X have a difficult time blocking thoughts that come to them. They will often have tangential language as well as perseverative patterns of speech (Cornish, Sudhalter, & Turk, 2004). This makes their language and speech a bit more challenging to understand. These speech patterns and irregularities are more prevalent in children with fragile X than any other developmental delays or diagnosis (Sudhalter & Belser, 2001).

Typically, children are not diagnosed with fragile X until they are approximately 3 years old, possibly because the parents may be unaware that there is a fragile X carrier in the family, or they may simply be hoping that the child will "catch up" in his development (Bailey, Skinner & Sparkman, 2003). In this family's case, they found out that their first-born son, Drew, had fragile X at just two months old. The mother, Mrs. Reyem, knew that she had a fifty-fifty chance of having a child with fragile X because her father was a carrier. Her sister has two children, one boy and one girl, and both of them are affected by the syndrome as well. I asked Mrs. Reyem about her feelings of having a diagnosis, and she was very straightforward. She shared that she believes it is important to have a diagnosis for your child. She believed that it is better to have a diagnosis and know how to help your child than to deny acknowledging that a problem exists. Some of the benefits regarding getting a diagnosis for the child include helping the parents and family know what they can do to assist their child, taking away any guilt, educating everyone involved, and knowing the cause of the disability (Bailey et al., 2003). Because Mrs. Reyem's sister was knowledgeable about fragile X, she was able to help the family through the beginning phases of the process of diagnosis and acceptance.

The Diagnosis
Mrs. Reyem explained that the experience of finding out about their child's condition was a painful and emotional time for her and her husband. She recalled the feelings of grief that she and her husband shared. Many parents deal with pain and guilt associated with passing on a faulty gene. The Reyem family decided to get Drew involved in early intervention (EI). Studies have shown that EI has many benefits for both the child and the family (Bailey et al., 2003).The knowledge gained through EI helps parents with caring for and teaching their child, shaping an optimistic outlook in life, and helping the family affirm a quality of life. Learning about the disability helps the family prepare, cope and find support to negotiate their child's challenges (Bailey, Skinner, & Warren, 2005).

Education: Early Intervention
Mrs. Reyem was impressed with the services that Drew received from the local school for his EI services. She shared that before EI services, Drew did not communicate at all. Through using picture schedules, routine, and transitioning, Drew's communication skills, motor development, and overall functioning had improved.

When Drew began kindergarten in a small county school, his parents recognized that he was not getting all the services that he needed, and that he was only meeting a small percentage of his individualized education program (IEP) goals. At the end of the school year, Drew received approval to attend a non-graded neurological development school offered by the school.

This school focuses on alternative therapies.

Drew is an active participant in patterning, vision therapy, and aquatic therapy. He is in a kindergarten classroom with only three other students and has a teacher, a general classroom aide and his own one-on-one aide to assist him throughout his day.

Drew's parents found it difficult determining what therapies and treatments are credible and which are not. Some therapies have no evidence beyond parental testimonies or an emotional appeal. It is important to determine if the therapy is logically connected to the difficulty that the person is experiencing (Stephenson, 2004). As the therapies used with Drew are controversial, research is limited.

The philosophy of Drew's school is to develop the perceptual motor information. The goal is to help the child later develop his/her concepts for learning. Team teaching is used at this school to help the children reach their own educational goals. This is achieved by helping the child organize the information he receives from the world and translate it into usable information. The school principal believes that when children lack neurological organization, they may develop: 1)difficulty reading, 2)coordination difficulty, 3)poor attention span, 4)difficulty staying focused, 5)low self-esteem, 6)poor vision, and 7)speech delays (A. Simindinger, personal communication, May 12, 2008).

During an observation in Drew's classroom, I saw the large daily picture schedule posted on the back of a door, and minimal visual distraction. In addition, noise was at a minimum. These are critical components for children who have the diagnosis of fragile X. It is also necessary to know that children with fragile X learn best by having visuals paired with talking (Mirrett, Roberts & Price, 2003).

Drew has difficulties with communication, interaction, and remaining calm in new situations. When I watched him in his classroom, he had a difficult time with keeping his glasses on. He did not want to complete his work in the classroom and was removed from the classroom with his aide to do the work that was given to him. When I asked the teacher about Drew's reaction, she replied that it may have been due to me being present in the room. Children with fragile X exhibit many different characteristics, such as socially avoidant action, that educators may be unfamiliar with. It is important that intervention specialists become educated about how to help children with fragile X syndrome feel comfortable in the classroom.

Doman-Delcato Patterning
The Institutes of the Achievement for Human Potential, a Pittsburgh institute for children with brain damage and other neurological issues, are founded on the same beliefs as Drew's school. Glenn Doman, who founded the institute in 1955, believes that children who are brain damaged learn best by therapies that are intense, frequent, and completed for a specific duration of time (video interview with Glen Doman, retrieved May 13, 2008 from www.iahp.org/Video-introduction-44.376.0.html). The Doman-Delcato method of patterning follows these guidelines. The patterning process is one in which the child does a series of movements incorporating arm, leg and head cross-patterning of the individual's body parts. This regimen needs to be completed on a daily basis, and is claimed to help improve neurological organization (Stephenson, 2004).

I was able to watch Drew do his therapy using the patterning techniques at school. It was intense to listen and watch the therapy. The students are verbally cued when to change arm and leg positions, and when to relax or tighten their bodies. They follow an established routine; the children are expected to follow along and listen to the commands. After this regimen, the children crawl on their hands and knees, walk on their knees, and finally walk across a balance beam while a ball is tossed to them. All of these activities are designed to help with their coordination and brain connections.

Some professionals question the patterning method. The Academy of Pediatrics' Committee on Children With Disabilities (1999) states that the Doman-Delcato patterning method is not proven to be effective and actually can be harmful, because of the demands placed on family members. The National Down Syndrome Congress (Stephenson, 2004) endorsed this position. Some believe that the patterning method represents an inaccurate and simplified theory of the brain and its development (Committee on Children With Disabilities, 1999).

Aquatic Therapy
Drew is also involved in aquatic therapy once a week, which serves as an alternative to land-based exercise. The heated water relaxes tense muscles and allows for a larger range of motion for the individuals' bodies. These types if exercises may help build strength, muscle tone, and improve coordination and circulation. Other pieces of equipment used during the programming may include a platform, an underwater treadmill, and an underwater bike (A. Simindinger, personal communication May 12, 2008). Research indicates that swimming and aquatic therapies are viewed as beneficial for children who have neuromotor disabilities (Getz, Hutzler, & Vermeer, 2006). Jeff Bisdee, and aquatic therapist who works with infants through young adults (Osborn, 2003), explains how his therapy works to achieve relaxation, increased comfort, and reduction of pain for his clients. Parent testimonies indicate that such therapy results in positive changes to their children's behavior patterns, eating routines, and sleeping schedules (Getz et al., 2006).

The medical and scientific fields, however, remain skeptical. One of the reports showing the effectiveness of aquatic therapy was questions because there was no control group (Getz, et al., 2006). In other words, all of the children in the study were receiving aquatic therapy. Therefore, there was no way for the evaluators to measure the success of the therapy. The same study did find that the children's social participation communication skills increased after they had completed the aquatic therapy. Furthermore, some cases indicated an increase in self-esteem.

Mrs. Reyem believes that Drew's speech and coordination have improved, and that his fine motor skills are beginning to develop as well. She is very pleased with Drew's progress at the school. She believes the combination of therapies, Drew's small class size, and individualized attention are all supporting his successes this year, as compared to the previous year.

Teacher Tips
Students with fragile X should be kept as calm and relaxed as possible. Learning self-calming techniques is important (Sudhalter & Belser, 2001). Students with fragile X syndrome show significantly more amounts of inattentiveness, restlessness, distractibility, and impulsivity. This could be due to flaws in their executive functioning, which helps people with their attention in social interactions (Cornish, Sudhalter, & Turk, 2004). These weaknesses can cause difficulty with switching attention and may impact students' ability to concentrate and plan what to say and how to express their thoughts. Therefore, they engage in tangential or repetitive speech (Cornish et al., 2004).

Teachers can make the environment conducive for students with fragile X syndrome by providing schedules, setting a consistent routine, and providing a calm learning atmosphere. Of course, this works best for all young children. Teachers need to be creative and realize the parents are relying on their support. Drew's kindergarten teacher knew that he was struggling with handwriting. Consequently, she offered alternative practice with alternative practice with magnetic letters. This helped him to be less frustrated and experience success.

It is difficult to know what the best option for a family is, but it is still important to decide. Children with fragile X thrive on routine and organization. Having children with disabilities can influence family functioning. An increase in stress has been observed in homes with children who have fragile X syndrome. Hall (2007) found that an increase in a child's undesirable behavior leads to an increase in maternal distress, sometimes leading to what is known as the cyclical mutual reinforcement trap. This is indicated when the child's negative behavior affects the mother's behavior, which then affects the child's behavior. This alone has been shown to cause challenging problems within family relationships (Hall et al., 2007). Fragile X syndrome is a multi-layered disability. Without a strong family unit, it can become difficult to handle, due to the emotional needs of the family members and the genetic tendencies of the disability. In the Reyem family, playtime with Mom was a desired activity for the boys on Saturday mornings. This time was filled with songs, stories games and time together, both in- and outside. During my time spent in their home, questions the boys asked were answered, their requests were granted and they were given the time that they needed. I appreciate the patience that both Mr. and Mrs. Reyem demonstrated each day.

As a preschool special education teacher, I now understand more deeply what it means to love a child for his/her own identity. Yes, as educators, we are trying to help students with a disability function to the best of their abilities in our world. Nevertheless, it is necessary to remember that the students who are in our classrooms do not need to be fixed; they need to be loved for who and what they are. I can see now why I am doing what I am with my life. I have always wanted to help people like Mr. and Mrs. Reyem. They are on a mission to help both of their boys. They are fighters, givers, and parents all rolled into one. They are advocates for their children and all children with disabilities. They opened both their door of their home to me, as well as their hearts.
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