Fragile X Syndrome Candidate Lead Seminar By Joe

Fragile X Syndrome Candidate Lead Seminar By: Joe Marcoccia

Overview

What is Fragile X? Fragile X is the most common cause of autism and intellectual disabilities. It is more prevalent in males than females, for instance: affects 1 in 4000 boys and 1 in 6000 girls The reason why more boys will have Fragile X over girls, is because all males with an FMR 1 full mutation will develop fragile X, while some females with an FMR 1 full mutation will not develop certain features that come with the syndrome (behavioural, cognitive, or physical) The main cause of this syndrome is the brain does not produce or produces too little of a specific protein that is mandatory for normal brain function.

Associated Issues Please watch My Brother Has Fragile X

Associated Issues Some issues with Fragile X will include the following: The intellectual ability will range from mild to severe ADHD will occur, especially in young children Children will have anxiety or mood-swings Hypersensitive may be an issue (loud noises, bright lights may provide discomfort) Some physicians will focus primarily on behavioural management as children who are diagnosed will have issues with transitions, entering new environments, changes in routine, participate in self-abusive behaviour or

Medical Information Parents are usually the first to notice any visible signs of the syndrome during the first 12 -16 months after birth CDC. gov website mentioned that more than one-third of families reported to having more than 10 visits to a doctor before receiving a diagnosis Here is a chart outlining the average of first concern:

Medical Information Any doctor may order a test for Fragile X, it entails a blood test to occur. Expecting mothers can also do a prenatal test by CVS (chorionic villus sampling) or amniocentesis - in which Fragile X is not included in the usual routine testing and must be requested. Premutation is also a common situation that can arise. There is a difference between having full mutation or premutation. If one (male or female) is a carrier of the altered gene then their child or grandchild may develop the disorder. All individuals are carriers where some diseases are “silent” - some people pass on genes with no side effects that take place.

Premutation, Full Mutation and Carriers Here is a chart outlining the risks associated with mothers carrying the gene to their children.

Parent Support: The Community Support Network (CSN) provides a means for individuals to get involved and support families with children who have Fragile X Fundraising: There are numerous fundraisers, walks, sales, and parades as well as community lead seminars to educate individuals Opportunities: Families are assisted in terms of knowledge expansions and guides to future treatments through The National Fragile X Foundation. This foundation provides information to drug studies, alternative testing, and clinical trials for children with Fragile X In order to gain a better understanding of these families click on the link below to meet some of the families supported by FRAXA (Finding a Cure for Fragile

Meet Simon is a friendly and curious athlete and artist who repeats sentences, loves watching televisions and eating junk food. Simon works best in a quiet, dark space and works well with technology and screens. He would love to learn to drive but first must learn to read. The most important thing for him is support from family and

School System Support Since the behaviour of children with Fragile X can fluctuate from one extreme to the other, it is important that teachers are aware of strategies and are knowledge about the syndrome to properly handle situations that may occur: The National Fragile X Foundation offers the following 10 points teachers should know: 1. Do not force eye contact 2. Expect inconsistency 3. Students are simultaneous not sequential learners - e. g. good with sight words not with phonetics, motivated by end results and not with the process 4. Allow/encourage breaks 5. Provide non-verbal instructions to show and represent certain commands 6. Think “INDIRECT” 7. PREPARE FOR TRANSITIONS IN ADVANCE (10 MINUTE PROMPTS) 8. Implement calming strategies into daily lessons as students will have anxiety and hyperarousal 9. Be aware of environmental triggers 10. Know Fragile X strengths

Educational Information There are numerous sources available that will provide additional educational information for those interested in learning more about the syndrome. The National Fragile X Foundation offers educational resources that include: Applications that are Smartphone and Tablet friendly (Apple in Education, Apps for Children with Special Needs, Moms with Apps, etc. ) General (Articles/Journal readings such as Autism in Your Classroom or Children with Fragile Syndrome: A Parent’s Guide IEP books and DVDs: For example, The Complete IEP Guide by Lawrence Siegel or Everyday Guide to Special Education Law by Randy Chapman IEP Websites: For example, Bridges 4 kids. com, Family Village School, Kids

Apps for Children With Special Needs

Educational Information Math: “Maria Braden Resources” - a teacher’s website that provides tools to help students with syndromes such as Fragile X to be success in the home and classroom. Reading: “Dolch Sight Words/Flash cards”, “Correcting Reading by Gary Johnson and Zig Engelman”, “Wilson Reading System” by Barbara Wilson Sexuality: “NICHCY - National Dissemination Centre for Children with Disabilities”, “Advocates For Youth” Writing: “Handwriting Without Tears”

Behavioural / Physical Characteristics Males: Intellectual disability ranging from moderate to severe Larger ears, long face, soft skin and large testicles in post-pubertal males Prone to ear infections, flat feet and high arched palate, double-jointed fingers and hyper-flexible joints ADD, ADHD, autistic behaviour, social anxiety, poor eye contact, increased risk of aggression

Behavioural / Physical Characteristics Females: Intellectual disorder is at times more mild Only one-third of females with Fragile X have a severe case of Fragile X Moderate LD’s, emotional and mental health issues, general anxiety Some with full mutation will have no apparent signs

Role of the Community Social media is a very powerful tool that has aided the amount of knowledge and awareness brought to Fragile X. It is important for those living with Fragile X or has a family member with Fragile X to be aware that there are many others in the world out there who are facing the same challenges and are willing to work together as support and as advisers to seek a better life. Communities are urged to join Facebook and Twitter forums to speak out and voice their stories for the world to hear or to contribute their ideas and knowledge. If anyone has questions there is a help line offered by the National Fragile X Foundation where citizens may call to ask questions or seek support - 800 -6888765 (available from 9: 00 a. m. to 5: 00 p. m.

Successful Strategies for successfully educating the child in an inclusive or specialized program classroom would be to initial create an Individualized Education Program (IEP). Specific learning goals based on the child’s ability would be outlined and strategies for best classroom placement would be identified. Teachers must determine best seating, assistive technology/devices, and special assistance that need to be implemented into the classroom and other areas of the school.

Skills and Training Those with Fragile X can be immersed in the following training and skills teaching programs through meeting with different therapists: Social skills training: speech and language therapists, occupational therapists Literacy and numeracy training: language therapists, special education programs Use of technology: physical therapists, assistive technology e. g. VOCA “Voice Output Communication Aid” Workplace preparation training: behavioural therapists *Sometimes adolescents will continue to work with a special education team until 21 years of age or until they have graduated high school. Continuing academic and life skills is an important aspect of the IEP that should not cease.

Cautions* When educating students with Fragile X Syndrome, it is important that one be mindful of: Environmental setting (different areas for quiet space or group engagement) External factors such as noise and lighting may be bothersome and should be monitored Remember that children may have weak executive functioning skills (planning, generating answers, using self-monitoring etc) Many learn best visually, with prompts and warnings before transitions Remember to provides “outs” or “breaks” that are frequent and effective

Student Success How can teachers ensure that a student with this syndrome reaches full potential? This is an open-ended question that does not have one concrete answer. Though this seminar provides as great deal of information, these facts and figures would act as a knowledge base to acknowledge the challenges that a student with Fragile X would face. Though, we recognize that one would need to know if the child has full mutation, is a male or female and how moderate or severe their condition is. In the end the most important things to remember are: - Ensure appropriate testing and assessments are done - Create, review, modify, challenge, or continue the IEP - Create the best social and environmental space - use discretion

Sources "Fragile X Syndrome Symptoms, Treatment, Causes - Sensory - Medicine. Net. " Medicine. Net. N. p. , n. d. Web. 03 July 2016. http: //www. medicinenet. com/fragile_x_syndrome/page 11. htm "FRAXA Research Foundation - Fragile X Syndrome. " FRAXA Research Foundation, n. d. Web. 03 July 2016. "National Fragile X Foundation. " National Fragile X Foundation RSS. Word. Press, 1998. Web. 03 July 2016. https: //fragilex. org/fragile-x/prevalence/