You are not alone Fragile What? Fragile X Syndrome is the leading inherited cause of developmental disability and mental impairment worldwide. Positive Aspects of People with Fragile X Syndrome Parents and educators agree that people with Fragile X often have • hyperactivity untapped potential. Cognitive strengths • tactile defensiveness may include excellent memory skills The Fragile X Association of Australia • poor eye contact and imitative abilities. Our organisation was formed to promote public awareness of Fragile X syndrome with special emphasis • repetitive speech These skills enable them to learn a wide variety on educators and health professionals; provide support • development delay of tasks necessary for independence in daily life. for families of people with Fragile X and enable them As they are prone to imitate people it is important to meet and share their ideas, concerns and problems; • anxiety to consider their role models at home, school and support scientific research on Fragile X syndrome. • obsessiveness and work. We provide specialised Fragile X clinics to our members. The clinics have been established to meet the specific • autistic-like behaviours They often have a wonderful sense of humour needs of individuals with Fragile X syndrome. • delayed speech development and are caring, compassionate and helpful. Some have good verbal and reading skills. They learn in a • shyness particular way and therefore it is very important to • poor concentration use appropriate methods to teach them. The Fragile X Association of Australia Inc. • aggression ABN: 18 655 264 477 They often enjoy and do well in activities involving PO Box 109, Manly NSW 1655 music, arts and sports. They may be quite creative and have excellent memories for songs, films, Phone: 1300 FX INFO (1300 394 636) sporting events, etc. Appropriate interventions are Email: firstname.lastname@example.org advantageous to their development and well-being Website: www.fragilex.org.au as well as helping them to maximise their potential. www.fragilex.org.au What is Fragile X Syndrome? www.fragilex.org.au Behavioural Characteristics • Fragile X syndrome is the most common Behaviours range from socially engaging and friendly inherited cause of mental impairment, to extreme shyness, gaze aversion, aggression and affecting approximately 1 in 3800 males anxiety. Individuals with Fragile X syndrome can be easily overwhelmed by sensory stimuli: crowds, noises, textures, and 1 in 4000 females worldwide. etc.. In addition, they may display an aversion to being • It is estimated that 1 in 800 males and as touched or held. many as 1 in 130 females are carriers. • Male carriers may develop FXTAS and female carriers may experience early menopause. • It is second only to Down syndrome as a cause of mental impairment. • Fragile X syndrome appears in people of all ethnic, racial and socio-economic backgrounds. Physical Characteristics Hyperactivity and impulsivity are common in boys with Physical features may be quite subtle and because of Fragile X. Shy and timid behaviour with a tendency toward this many children and adults with Fragile X syndrome Speech and Language social withdrawal is common in girls with Fragile X. Both appear to look normal. boys and girls experience attention difficulties. Poor eye Most boys will exhibit speech and language delays. As contact, hand-flapping and hand biting are common language develops it tends to be dysfunctional; rapid and The physical features associated with Fragile X autistic-like behaviours. Children with Fragile X may display uneven speech and repetition of words and phrases are syndrome include a long narrow face, prominent ears, some or all of these characteristics. common. Speech and language problems tend to be less high palate, and, in postpubescent males, large testicles. severe in affected girls. Intelligence Abnormalities of connective tissue and muscle tone may Individuals with Fragile X display a wide range of result in hyper-extensible joints (double-jointed); flat capabilities. About 80% of boys with Fragile X will have feet; soft velvety skin and mitral valve prolapse (heart some degree of mental impairment, ranging from murmur). Low muscle tone may cause spinal curvature, low -normal intelligence to severe impairment. The strabismus (cross eyed) and slack facial features, majority are mildly to moderately intellectually disabled. particularly in young children. Approximately 30% of girls with Fragile X are intellectually impaired. The others have normal intelligence but may show subtle learning disabilities, particularly in maths. How is Fragile X Syndrome Inherited? Father What Causes Fragile X Syndrome? Mother Y X fragile Autism and Fragile X Fragile X syndrome is caused by a mutation on the “X” Fragile X syndrome is the most common cause of inherited Because Fragile X is an X-linked disorder, a X Son Daughter chromosome. Females have two “X” chromosomes and intellectual disability and the most common known genetic males have one “X” and one “Y” chromosome. A gene near father who carries the premutation will pass it XY X cause of autism. the end of the “X” chromosome normally contains between on to all of his daughters but none of his sons. X fragile 6 and 50 repetitions of the genetic code CGG. Son Daughter Around 30% of children with Fragile X also have some degree A carrier mother, because she has two X XY X of autism and conversely 2% to 6% of children diagnosed For reasons which remain unclear, the regulation of the X fragile with autism have Fragile X syndrome. Therefore a child X-chromosomes, has a 50% chance with each code breaks down in some people causing the number of diagnosed with autism, or Autism Spectrum Disorder (ASD) CGG repeats to increase. An expansion of the sequence pregnancy of passing the mutation to her should be tested for Fragile X syndrome. from 50 to 200 repeats is called a premutation and may children. Mother cause few or no symptoms of Fragile X syndrome. People Also a child diagnosed with Fragile X syndrome should be with the premutation are know as carriers. The Fragile X mutation often increases when Father X X fragile evaluated for autism or ASD. passed from mother to child. This means that X Daughter Daughter An increase to over 200 CGG repeats (sometimes into the thousands) is called a full mutation and results in Fragile X children born with Fragile X syndrome frequently XX X Fragile X-associated Tremor/Ataxia syndrome. This full mutation stops production of a protein appear in families with no previous history of X fragile Syndrome (FXTAS) required for brain development and all brain functioning. mental disability. Son Son A progressive, neurological condition affects some Y XY Y X fragile predominantly male carriers of Fragile X over the age of 50. It is called Fragile X-associated Tremor/Ataxia or FXTAS and Who Should be Tested? is characterised by tremors, balance problems and dementia • All people with an intellectual disabilty or autism of that become worse with age. The carriers are generally unknown origin. healthy until they reach their middle years, and have normal • People with significant hyperactivity, learning to above average intelligence. Initial signs of the disorder may include difficulty writing, using utensils, pouring and walking. disabilities and/or mild cognitive deficits. Majority Undiagnosed The symptoms progress over years or decades, until many • People with any of the physical or behavioural features Although Fragile X has been found in all parts of the daily tasks become extremely difficult. There may be short- of Fragile X syndrome, regardless of gender or family world, it is estimated that the majority of individuals with term memory loss, anxiety, decreased sensation to touch in history. Fragile X have not yet been diagnosed. the lower extremities and rigidity in movement. It is common • Any individual who has a family member with a to find these carriers misdiagnosed as having Parkinson’s diagnosis of Fragile X syndrome or a family history of disease, senile dementia or Alzheimer’s disease. mental impairment. Treatment A DNA blood test for Fragile X can be organised through your Currently there is no cure for Fragile X syndrome, but Early Menopause or Primary Ovarian there are effective treatments that can improve life quality. GP or paediatrician and may be covered by Medicare. It can Insufficiency (POI) A multi -disciplinary therapeutic approach incorporating also be used for prenatal diagnosis, and foetal testing can be Approximately 20% - 25% of women who are Fragile X carriers educational, medical, and behavioural management accomplished via either amniocentesis or earlier in pregnancy will experience early menopause. This occurs on average 5 techniques is most beneficial. Occupational, physical and through chorionic villus sampling (CVS). Genetic counselling years earlier than non-carriers. In extreme cases, it can occur speech therapies should be incorporated into a child’s should be part of any testing procedure. in the early 20’s. Due to the decrease in hormone levels that education plan. accompanies this condition, women with POI are at risk of osteoporosis at an earlier age than noncarriers. Many people with Fragile X syndrome have sensory and perceptual processing problems which distort the way they receive information and their ability to use it to learn and behave appropriately. Occupational therapists using sensory Integration techniques in collaboration with the child’s teacher and other educational team members have markedly improved these Medical Treatment children’s abilities to manage their behaviour, learn new Medical treatment focuses on ADHD (hyperactivity) information and increase their potential for a productive life. symptoms, tantrums, anxiety, mood instability and obsessive- These strategies are especially effective when incorporated compulsive behaviours. Stimulants may be prescribed alone into an early intervention programme. or in combination with other medications. Serotonin agents target anxiety and obsessive-compulsive behaviours and A doctor who is well-informed about the symptoms and often improve social behaviours and language. Atypical implications of a Fragile X diagnosis is a critical member of any antipsychotic medications may help to stabilise mood or treatment team. He/she may recommend some medications. decrease aggression.