Essay: Fragile X Syndrome

Abstract
Fragile X is an inherited chromosomal mutation that is proven to be the second most common cause of intellectual disability after autism. The effects can range from undetectable to severe. Males are nearly twice as likely to be effected by the mutated gene than females. In most cases, testing for Fragile X is not done routinely unless one of the parents is a known carrier. As a result, most children are not diagnosed until around the age of four, when they have begun showing significant signs of an intellectual disability. The outlook depends on the severity of symptoms and the treatment modalities that are put into place. In our clients case, he was diagnosed early and was able to begin early intervention. He has a bright outlook considering his diagnosis.
Introduction
Our client began showing signs of developmental delay from the time he was an infant. He didn’t reach any of the developmental milestones when he was ‘supposed to’. His parents noticed something was wrong right away, and began exploring what the problem might be. At the age of one, he was sent to a developmental pediatrician, where extensive testing was done. At the age of one and a half, he was diagnosed with Fragile X Syndrome. His parents didn’t know what it was, how he had gotten it, or why. They soon learned about the FMR1 gene, and that his mother had been a carrier. The client was able to begin early intervention, and will have a positive outlook for a good quality of life due to the strong family and community support he is receiving.
Diagnostic Criteria
When our client was born, everything seemed normal, but as he grew it became apparent that something was wrong. He was not reaching developmental milestones at the times that he should have been. Every developmental milestone during the first year was delayed. He also exhibited behaviors that often appear in autism such as hand flapping and poor eye contact. His parents and doctors agreed that there had to be something wrong. For the clients first year, his doctor decided that it would be best to just observe the clients behavior and development to see if there might actually be a problem, or if he was just a little behind. At the age of 1 year, when the client had only just began sitting independently, his doctor decided that it was time to explore the issue further.
The clients mother did not yet know that she was a carrier of the FXS gene. According to Bailey, Fragile X is not routinely tested for at or before birth unless one of the parents is a known carrier. Most children are not diagnosed until around the age of 4 years old due to the fact that there are so many other reasons for the delays that are seen during early development. Our clients pediatrician referred him to a developmental pediatrician to have a more extensive assessment done. After further examination, it was apparent that there was definitely something causing the delays in his development. Our client was first tested for autism, but the results were negative. The doctor then ordered several other blood tests. Our client was a year and a half old when he was diagnosed with Fragile X Syndrome. (Bailey)
Signs/Symptoms
Our client only shows a few of the signs and symptoms that have been commonly related to Fragile X Syndrome. There are five main categories that have been identified: intelligence and learning (cognitive), physical, social and emotional (which commonly resemble autism or ADHD), speech and language deficits, and sensory. In many cases, seizure disorders have been linked to Fragile X also. Our client has shows the greatest deficits in physical development, speech, and social development. He has several characteristics of autism and ADHD.
Males diagnosed with Fragile X have an average IQ of between 45 and 80. Our clients IQ is 60. He is considered to have mild to moderate intellectual disability. This means that he has a small deficit in learning and cognition. He has shown delayed development, but it is too early to tell just how delayed his learning is or will be. He has shown progress in learning how to communicate with parents and caregivers. He does have delayed speech, however. Our client is a 3 year old male, who will be four in 4 months. He has recently began putting sounds together to form simple words. He can say ‘mom’, and ‘dad’ and is showing progress with other words and sounds. Many words are hard to understand, but do have meaning to the client. Sounds such as ‘ink’ for drink, and ‘yook’ for look He has also learned some sign language to communicate with his parents and caregivers. (roberts)
Other than speech and cognition, his greatest deficit was with physical development. Our client reached major milestones later than the average child. On average, children begin sitting independently around age 6 months, whereas our client did not begin sitting on his own until he reached 11 months old. Similarly, children begin crawling between 7 and 11 months, and typically begin walking between 13 to 15 months. Our client began crawling at 15 months and walking at 21 months. (development news, medline plus) As for physical characteristics of Fragile X, our client only shows a few of the many traits that are commonly seen; these include a large forehead and ears, elongated face, prominent jaw high arched palate, and flat feet, large testicles, double-jointedness, and large body size. Our client exhibits the large forehead and ears, elongated face, and double-jointedness, although he is still developing physically and these traits are likely to change as he grows. (roberts, medline-plus)
ETIOLOGY
In order to understand the cause of Fragile X, it is important to first understand the basics of how genes, DNA, and chromosomes work. Healthy humans all have 46 chromosomes, two of which are sex chromosomes; females have two X chromosomes , and males have an X and a Y chromosome. Each chromosome is made up of thousands of genes, and each gene containes thousands of strands of DNA. Human characteristics are determined by our genes, and any mutation or damage done to the DNA or the gene can cause significant harm. Fragile X is a mutation of the X chromosome. This means that women are more likely to be carriers of the mutation, since she has more X chromosomes.
Fragile X is an inherited symdrom caused by the FMR1 gene. FMR1 stands for Fragile X Mental Retatdation. The typical FMR1 gene contains roughly 50 CGG repeats. CGG is a form of DNA, that is normally repeated, but when it is repeated excessively, it can cause a mutation known as Fragile X. Depending on the number of CGG repeats, the person with the mutation is eiter a carrier or is effected by the mutation. A person can either be a carrier who does not have the potential of passing the mutation to offspring, will have a slight possibility of passing the mutation, or will definately pass the mutation depending on the number of CGG repeats. If a person has anywhere between 50-200 repeats, he or she has the premutation, and any number of repeats above 200 is the full mutation
Prognosis
According to Moorjani, patients diagnosed with Fragile X have a normal life expectancy, in fact, they are even at a decreaced risk of cancer due to their mutated gene. As for quality of life, they are at a increased risk of social, economic, and emotional difficulties, and are often institutionalized due to their lack of ability to care for themselves. The resources available, family support, and severity of symptoms all play a role in the outlook a person diagnosed with Fragile X will have. Females have a better outlook, just as they are less likely to be effected or as severely effected. Our client is male, and has a significant amout of develeopment and cognitive delay, however he has an extensive support systom and abundant resources available to him, as well as having begun early intervention. He has a positive outlook compared to many who have similar symptoms.
Prevalence
Our client is approximately one out of four thousand males who have been diagnosed with Fragile X Syndrome. He had a much higher likelihood of developing the full mutation simply because he is a boy. According to Borsel, “With an estimated prevalence of 1/4000 in males and 1/8000 in females, fragile X syndrome is the second most frequent cause of mental retardation of genetic origin after Down syndrome.” Males are twice as likely to develop the full mutation than females, and are also typically more effected by the FXS gene mutation than females. This is because males have only one X chromosome, and females have two. Think of it as an apple with a worm in it. The female gets the whole apple, the male gets half of the apple; the male is twice as likely to have the worm in the first bite he takes than the female is. Having this concept applied to the FXS gene helps to explain why the female is more likely to be a carrier. The male is more likely to be effected, or have worsened symptoms, because he has less space for the gene to take up.
Treatment Modalities
There is no cure for Fragile X Syndrome, but with enough support, progress can be made. Special education is the most common and one of the most effective interventions for children with Fragile X. In special education, there is more oppertunity for one on one interactions, and children are placed in individualized education programs, or IEP’s. These include a special cirriculum, indivdulaized goals, and related services. With the IEP in place, the child with Fragile X has the greatest opportunity for advancement. There are also clinics that specialize in Fragile X that, according to (fsx.org), ‘All of the clinics provide medical services supervised by a MD as well as multidisciplinary services and/or referrals, such as occupational therapy, speech and language therapy, behavioral therapy and genetic counseling.’ The National Fragile X Foundation has a website with information including treatment and intervention, resources, community support, and much more at http://www.fragilex.org. Our client is currently enrolled in a day care facility that specializes in teaching students with mild to moderate intellectual disabilities.
There is no one medication used to treat Fragile X, however the symptoms and associated disorders are often treated with medications. Some of the classes of medications that have been useful in treating the symptoms include antianxiety medications for symptoms such as social withdrawal, OCD characteristics, and general anxiety and central nervous stimulants and/or depressants are used to treat symptoms of ADHD. In cases with clients who have more sever symptoms, such as those associated with autism, antipsychotic medications are often used. Many patients with Fragile X suffer from seizure disorders, which are treated with anticonvulsants. Our clients is currently taking medication to treat his ADHD and autism symptoms.
http://www.fragilex.org/treatment-intervention/fragile-x-clinics/#sthash.iuHNwf3E.dpuf
Assessment
Our client is a 3 year old male, birth date is July 3, 2011. He was diagnosed with Fragile X Syndrome at the age of one and a half years, and has since been receiving treatment for the associated symptoms. As for self care, the client is currently toilet training, and has accidents about 50% of the time. He wears pull ups at night and to day care, and home during the day at home he wears underwear; he is expected to let his parents and caregivers at daycare know when he needs to use the toilet. The parents and staff at the day care he attends are encouraging him to use the toilet every time he needs to, and are using animal crackers as reinforcement; each time he successfully uses the toilet, he gets 3 animal crackers.
As for physical development, the client is moderately developmentally delayed. He has reached every major developmental milestone later than the average child who is developing at a normal rate. He began sitting independently at 11 months old, crawled at 15 months old, and began walking at 21 months old. The client has also reached the less significant milestones late as well; holding his head up, rolling over, and holding objects in his hands, among others. The client has some of the physical traits of Fragile X Syndrome, which are an elongated face, large ears and forehead, and double jointed fingers. The client is slightly delayed when cognitive development is considered as well. Just as he turned 3 years old, he was beginning to form simple words such as ‘mom, dad, and potty.’, Some words are difficult to understand, and only sound similar to the word that he is actually trying to say, such as drink sounding like ‘ink’. The client is learning some sign language such as ‘eat’ and ‘toilet’ in order to communicate needs with caregivers. The client makes sounds that have no real meaning in order to get the attention of parents and caregivers, and sometimes hits when he is frusterated and can not express his needs.
The client demonstrates traits of both autism and ADHD, which often cause behavior problems, expecially at his day care. The autistic characteristics that he demonstrates incude cherwing on hands, poor eye contact, and extreme shyness. He does not engage with other children at day care unless he is prompted, and sometimes becomes agressive when he can not express himself to others. The ADHD characteristics that the client possesses include difficulty focusing during group activities, wandering around the classroom at innapropriate times, and hyperactivity. Our client rarely stays seated for the entire duration of story time, coloring, or any other activity that requires sitting in a seat for a prolinged period of time, however, our client does well with music time and outside play, when he is expected to be more active.
CARE PLAN
Our client has been givin the nursing diagnosis of; Delayed cognitive/ physical development, RT moderate intelectual disability, AEB later than average development of basic motor and cognitive skills such as crawling, walking, and forming words. There are several ways to help the client to improve in these areas, which will be discussed in the fowolling care plan. Two goals have been identified for this nursing diagnosis; Our clients short term goal related to this NDX is that the client will alert parents or staff, and successfully use the toilet each time he needs to during the day. His long term goal is that he will wake up and alert parents that he needs to use the toilet at night.
Three interventions have been put into place for the short term goal, which needs to be met by April 30th, 2015. To encourage the client to alert parents or staff when he needs to use the toilet during the day, he will be asked every two hours if he needs to use the toilet, he will be praised for attempting to use the toilet, even when unsuccessful, and he will be reinforced with three animal crackers after each successful trip to the restroom. The rationale for these interventions is that asking him if he needs to use the toilet will help to remind him that it is important to think about whether or not he needs to use the toilet throughout the day, praising him for attempting, even when uncessful will encourage him to keep trying, and reinforcing successful trips to the restroom will increase the liklihood that he will continue to use the toilet successfully in the future. The evaluation of the clients success is in meeting his short term goal is that he has successfully alerted parents or staff of each time he needs to use the toilet 100% of the time, and has successfully made it to the toilet 90% of the time.
Three interventions have also been put into place for the long term goal, which needs to be met by May 30th, 2015. The client will be given a glass of water one hour before bed time and continue wearing pull ups to bed. He will also be woken up twice during the night and encouraged to use the toilet. The third is that he will be reminded before bed time that if he wakes up and needs to use the toilet, that he is to alert his parents during the night, and that if he makes it throughout the night without any accidents he will be reinforced with his favorite breakfast of chocolate chip pancakes in the morning. The rationales for these interventions is that if the client is not given water for an hour before bed time he will not have as much of a need to use the toilet throughout the night. Waking him up twice during the night and encouraging him to use the toilet will get him into a pattern of waking up during the night when he needs to use the restroom. Reminding him that he needs to alert his parents during the night and reinforcing him with pancakes in the morning will increase the liklihood that he will have more successful nights of toilet training. The evaluation for the long term goal is that he has had successful nights of toilet training 75% of the time.
Treatment Plan
Our client is currenlty enrolled in a day care that specializes in children with mild to moderate intellectual disabilities where they work with him to improve his speaking skills and vocabulary, toilet training, fine and gross motor skills, and social skills. He also sees a speech-language pathologist weekly, and has appointments with his medical doctor monthly to track progress and assess for any changes in health status. Our clients parents have been attending a support group for parents who have children with intellectual dissabilities as well as seeing a counselor to help them cope with the emotional toll it is taking oth them. The family is a member of one of the many Fragile X clinics, where they recieve information to help the client to progress toward his goals at home, special events that are offered for the FXS community, and other information that relates to Fragile X.
The client is taking medication for his AHDH and autism symptoms. He is currently taking Adderall, also known as amphatamine, for his symptoms related to ADHD. This medication is a central nervous system stimulant, and our client is taking 0.5 mg by mouth twice a day. Adverse effects of this medication include hyperactivity, insomnia, tachycardia, anorexia, irritability, and constpation, among others. Nursing implications include montiroing vitals; blood pressure, pulse and respirations before and periodically during therapy, monitoring mood, assessing attention span, impulse control, and social interactions. Also monitor weight bi-weekly for any abnormal weight gain.
The client is also taking Risperdal, also known as risperidone, to treat the autistic characteristics associated with FXS. This medication is an atypical antipsychotic, and our client is taking 0.25 mg by mouth once daily. Adverse effects of this medication include neuroleptic malignant syndrome, estrapyramidal symptoms, suicidal thoughts, and cholinergic effects, amung others. Nursing implications for this medication include monitoring for neruroleptic malignant syndroms, extrapyramidal symptoms, monitoring vital signs regularly throughtout therapy, and assessing mood.
Conclusion
Our client was diagnosed with Fragile X at the age of one and a half years old, which is earlier than average. Because he was diagnosed at a young age, he was able to begin early intervention, and has a strong support system, he has a very positive outlook. He is considered to have moderate intellectual dissability, and will probably need support throughtout his life, but because of the plentiful resources for the Fragile X community, he will have many oportunities for advanced development in the future. Not every client with Fragile X has an outlook that is as bright as out clients, but many clients with Fragile X will have good quality of life with support from family, friends, and the community.