Sunday, July 19, 2009

Case Study of Fragile X Syndrome

Nikhil is 22 years old, Fragile X Syndrome child. He is placed in the vocational group at Swami Brahmanand Prathisthan, Centre for Mentally Challenged.

When he first came to school in 1997, he was very aggressive and hyperactive. At home he was very restless and would roam around the house aimlessly for the greater part of the day. He was very stubborn and would throw temper tantrums if compelled to do some work. During the years of training in the school, he has shown marked improvement, he is more co-operative and shows more concentration in manual work. He cannot read and write and has severe speech problem but he is quite independent and is able to most of his personal jobs on his own.

Fragile X syndrome is the most common form of inherited intellectual impairment. Nearly one third of patients diagnosed with fragile X syndrome also have some degree of autism, and the mutation underlying fragile X syndrome is the most commonly known single gene cause of autism.

A change or mutation in a gene on the X chromosome causes the fragile X syndrome. Chromosomes are packages of genes that are passed from generation to generation. Most individuals have 46 chromosomes, two of which are sex chromosomes. In females, these are two X's; in males they are and X and Y. Genes are given names to identify them and the gene responsible for fragile X syndrome is called the FMR1 (fragile X mental retardation 1) gene. The mutation is in the DNA (the chemical that makes up genes), of the X chromosome. The gene appears in three forms that are defined by the number of repeats of a pattern of DNA called CGG repeats. Individuals with less than 60 CGG repeats have a normal gene. Individuals with 60-200 CGG repeats have a permutation which means they carry an unstable mutation which can expand in future generations. Individuals with over 200 repeats have a full mutation which causes fragile X syndrome. The full mutation causes the gene to shut down or methylate a region of the FMR -1 gene. Normally, the FMR-1 gene produces an important protein called FMRP. When the gene is turned off, the individual does not make fragile X mental retardation protein (FMRP).

The lack of this specific protein causes fragile X syndrome.

Children with Fragile X syndrome can be recognized by their typical physical features such as enlarged ears, long face with prominent chin, and large testicles (in post pubertal males). Connective tissue problems may include ear infections, mitral valve prolapsed, flat feet, double-jointed fingers, hyper flexible joints and a variety of skeletal problems.

Behavioral characteristics in males include attention deficit disorders, speech disturbances, hand biting, hand flapping, autistic behaviors, poor eye contact, and unusual responses to various touch, auditory or visual stimuli.

At this time, there is no cure for fragile X syndrome. However, special education, speech and language therapy, occupational therapy and behavioral therapies are helpful in addressing many of the behavioral, and cognitive issues in fragile X syndrome. In addition, medical intervention including medications can be helpful for aggression, anxiety, hyperactivity and poor attention span. Because the impact of fragile X is so varied, it is important to do a careful evaluation of the individuals' abilities and difficulties to tailor a treatment plan to address specific needs.

All persons with fragile X can make progress, given the proper education, therapy, and support.

Speech and language, behavior, cognitive development, sensory integration, gross motor development, and daily living are areas that often need to be addressed for someone with fragile X syndrome. While many of these areas require physical and behavioral intervention, medication is often an important component of the treatment.
Children with fragile X often have a variety of behavioral challenges. Behavioral challenges are one of the main areas listed on checklists for the identification of persons with fragile X syndrome. Intervention for difficulties with attention, anxiety, and interpersonal relations requires careful planning for both medication and behavior modification.

Parents and educators may need to devise behavioral plans to help children with fragile X to cope with everyday demands of home, school, and community. Poor eye contact, hand flapping, and lack of awareness of social cues may cause difficulties in peer interactions, making inclusive educational placements more of a challenge. ADHD may also impede academic progress.

Behavioral interventions, including calming techniques and modified environments, are important components of the IEP for children with fragile X. Clear, concrete plans, with appropriate cues (e.g. visual signals for quiet mouths) and appealing rewards (e.g. stickers which lead to prizes) are essential for early childhood and school age children. Older adolescents and adults may need specific behavioral plans in vocational training, so that they can function in the work setting in the most appropriate manner.

Many of the strategies used for children with ADHD who do not have fragile X syndrome are appropriate for those with fragile X. These include seating near the teacher and away from distractions, use of a private carrel at times, short tasks with the opportunity to move around often, visual cues for sequences of events, and interactive lessons, that do not always involve sitting and listening.

Transitions and changes in schedule are especially difficult for many persons with fragile X and require careful planning by teachers and parents. Pictured schedules on the board or on Velcro cards can be used to lay out the sequence of the day. Changes, such as an assembly, can be written out or pictured and inserted in the proper sequence. Some unusual circumstances (such as a loud assembly) may call for time in a quiet room, with calming items such as a beanbag chair and a videotape, rather than the scheduled event.

Intervention for inappropriate behavior should always be planned with awareness of issues relating to sensory processing. Strategies designed to help achieve behavioral goals should include attention to the environment (lights, noise levels, activity level, etc.) and awareness of the sensory overload levels of each particular child. See Intervention for Sensory Integration Disorders for more information in this area.

Social intervention may help decrease the risk of later social, educational, and psychological dysfunction. In the school setting, social stories can be used describe a behavior that needs to be changed, with appropriate solutions for the child or adult to try. Some children with fragile X may see the school social worker or counselor in order to set social or behavioral goals.
Activities in the community, such as going to restaurants and movies, and attending other crowded, unfamiliar places may pose challenges for families. Careful planning, beginning with descriptions at home of the activities and sequences that will happen can help the child or adult with fragile X to anticipate the situation. Visual cues, such as menus or church bulletins, can also help a parent explain what will happen in an upcoming event.

Medications may be necessary for attention deficit hyperactivity disorder (ADHD) and/or for anxiety or depression. Aggressive behaviors and violent outbursts, seen in some adolescents and adults with fragile X, can often be inhibited with the use of medication. Pediatric neurologists and therapists who are familiar with fragile X syndrome can evaluate and treat these symptoms with appropriate medication. Counseling and behavioral therapies often need to accompany medical intervention. For more information, see the Medication section.

Nikhil has shown marked improvement in our school. Over the years of training, Nikhil is now helpful to his mother in running of simple errands. At school, he is placed in vocational group and perform well in fine motor activities. He helps in making different articles for sale. During the month of July, he is the active student in making of beautiful friendship bands for the festival of ‘Rakhi’ - an Indian celebration of ‘Brother’s day’. He can be placed in a sheltered workshop.


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