July is Fragile X Awareness Month. I know, you may be thinking, “Fragile what???” and that’s okay. There are doctors, teachers, and therapists who are unfamiliar with Fragile X Syndrome. Awareness is really needed. I decided to write this article to draw together some resources I thought might be helpful.
(To clarify, there are a couple of related disorders associated with Fragile X, but those are beyond the scope of this article and way beyond my experience or expertise. Today I am just talking about Fragile X Syndrome – or FXS.)
I first learned about the syndrome when my two sons were tested for it because they both have autism. Fragile X can cause autism and we thought it might help if we had something we could point to and say, “There it is. That’s the cause of their autism.” In fact, my youngest son had some physical characteristics of the syndrome. As it happens, neither of them has Fragile X and if they did, it would not mean they could be cured of any symptom of their disability. A lot more research is needed on Fragile X, and I hope that one day there will be treatments that result, and kids with Fragile X will benefit from those treatments.
What is Fragile X Syndrome?
I will try to give you a very simplified version. Fragile X is caused by a mutation on the X chromosome. A tiny section of genetic material within a gene is repeated too many times. This causes a constriction in the chromosome and the gene does not create the protein it is supposed to – and those proteins are needed for normal brain development. Almost twice as many boys as girls are diagnosed with Fragile X because girls have a second X chromosome which can kick in and override the constricted one, so to speak. Also, when girls do have Fragile X symptoms, they are often not as severe as those of boys who have Fragile X - again, thanks to the fact that they have two X chromosomes instead of just one. (For more information, check out this in-depth article from the US National Library of Medicine.)
What are the symptoms?
Fragile X is a syndrome, so it has more than one identifying feature or symptom. Following is a list of symptoms and features, but they are not all present in everybody with Fragile X. Individuals may have some of these, to varying degrees:
- intellectual disabilities, ranging from mild to severe
- attention deficit and hyperactivity, especially in young children
- anxiety and unstable mood
- autistic behaviors, such as hand-flapping and not making eye contact
- sensory integration problems, such as hypersensitivity to loud noises or bright lights
- speech delay, with expressive language more severely affected than receptive language
- seizures (epilepsy) affect about 25% of people with Fragile X syndrome
- long face, large prominent ears, flat feet
- hyperextensible joints, especially fingers
- low muscle tone
(Check out this website for more information and recent research on FXS.)
What are some of the challenges and strategies for caregivers?
It depends on how many symptoms are present. Some people are carriers and do not exhibit any symptoms others would notice right away. People who have more symptoms have more challenges, and from what I have read and seen, the challenges look very similar to what my sons and other people with autism experience. I gleaned some of these ideas from Care.com:
Out in public:
- Learn how to feel included in the community without apologizing for your child's behavior. Devise a behavioral plan. The behavioral plan can include calming techniques and modification of your child's environment to remove anything that triggers an outburst.
- Trips to the dentist or doctor can be traumatic for all concerned. Kids may become anxious and develop hypersensitivity in either office. They could act out in ways that disturb personnel or other patients. Going over exactly what will occur in advance, and in what sequence, may mitigate some problems. Also, find a doctor and dentist who will work with you and your family. If you don’t know where to start, ask around at school or at the day program your child attends.
- Any family activity (such as dining out or attending church and cultural events) can become difficult and requires special preparation. Using picture schedules can help, as does having extra helping hands. Some families prefer to have one parent stay home with the child who has FXS while the other goes out with the other child or children.
- Transitions have to be planned carefully for those kids with FXS who don't like changes. In addition to using a picture schedule, if you think that an activity will be disturbing to your child, try to make sure it’s followed by a calming activity. If a calming activity won’t work for your child, one that releases energy and stress might be the answer.
- Watch out for sensory issues. Some children with FXS are hypersensitive to light, sounds, odors, touch, or textures of clothing. Sometimes sunglasses and headphones can help. Don’t be afraid to experiment.
· Some children find it difficult to be in crowded or visually complex surroundings, to be exposed to crowds or surprises. They may not be able to tolerate certain events. Sometimes, getting them used to environments like those in very small doses can help – especially if the child knows ahead of time that they will not be staying long.
Within the home:
- Be on the lookout for family stress. The stress of a disability can strain family ties, both between parents and between children and parents. Siblings might not understand why the child with FXS receive so much attention and why they can't control him. When families are aware of the challenges, they can be better prepared to deal with them.
- Many children with FXS have unusual sleep patterns, difficulty falling asleep, hypersensitivity to fabric which makes them uncomfortable wearing pajamas. They may wander about the house at night or wake up at an unusually early hour. As a result, some families install gates or half-doors to prevent their children from wandering. Others find that establishing a bedtime routine and creating a soothing environment can help.
- Due to problems with inadequate oral sensations, some children with FXS can't tell they have too much food in their mouths until they choke or gag. Some find that silverware is over-stimulating and so prefer to eat with their fingers, so they can be very messy eaters. Occupational and speech therapy can help, and therapists can also suggest adaptive utensils that might work.
- Dressing and hygiene tasks can also be a problem due to poor muscle tone and extreme sensitivity to clothing. Again, professional therapy can help with these.
- To help head off behavior problems sparked by anxiety, keep to a routine as much as possible. Prepare your child well in advance if an activity will be changed or if a new one will be introduced. Make sure the activities he/she will participate in have a well-defined beginning and end.
Would you like more information on this topic? Check out the Life Strategies section on the National Fragile X Foundation site. You will find lots of useful articles, news, and research there. They even have resources listed by age group.
Know somebody living with Fragile X Syndrome? Please post your comments below. Thanks!
Joan is the mother of two sons with autism and is VP of Marketing at PMF.