Fragile X Syndrome

Over the last year or so I've written some short pieces about Fragile X Syndrome, but I've never written a primer about it. It is timely to do so now for a couple of reasons. First, a group of Fragile X advocates - parents, doctors, therapists and researchers - recently completed an annual trip to Washington, D.C. to meet with various congressional leaders to encourage them to increase funding for research into Fragile X Syndrome, and to sponsor legislation to benefit individuals with Fragile X and other special needs. Second, in just a few short days Autism Awareness Month (April) will begin.

Are you aware that for 2-6% of all individuals diagnosed with autism, the Fragile X gene mutation is the cause? That may not sound like much, but it is the largest known, single-gene mutation cause of autism. You can learn more about the distinction between the two disorders and the link between them by reading here. Suffice it to say that anyone diagnosed with autism should be tested for the Fragile X mutation and that any strides toward understanding and treating Fragile X may help us learn more about autism, too.

Fragile X is also the most common inherited form of cognitive disability. It begins as a mutation on a gene (FMR1) found on the X chromosome. This mutation affects the structure of the X-chromosome such that under magnification it actually looks "broken", hence the name of the disorder. The FMR1 gene is responsible for instructing cells how to make the protein FMRP. The role of FMRP is not known, but clearly has some role in brain development. In the simplest scenario, because FMR1 is located on the X-chromosome, Fragile-X is carried by females. Since females have two X-chromosomes one can still generate FMRP if the other bears the FMR1 mutation; they have the mutation, but not the disorder. Males with a fragile X cannot make FMRP and will develop the characteristics of Fragile X Syndrome. However, both males and females can be carriers and both males and females can have Fragile X, so it's complicated.

In addition to behavioral characteristics that are similar to autism (language delays, motor delays, sensory disorder, poor eye contact, etc.) often individuals with Fragile X have some physical characteristics in common (large ears, long face, soft skin, flexible joints, and flat feet). Usually there are cognitive issues ranging from mild learning differences to severe cognitive disabilities.

To learn more about Fragile X, I recommend starting at the National Fragile X Foundation website. In particular, this video, which I have linked to before is very powerful.

Movie Review - Loving Lamposts

First, my apologies for disappearing for a week. Last week was supposed to be my "light" blogging schedule, but not quite THAT light. We had an urgent accounting project dropped on us, which basically left me thankful that our family has our own issues and not another person's. Maybe God really does give us just what we can handle.

Meanwhile, I'm resurfacing just in time to hit the review post with a documentary called Loving Lampposts - Living Autistic by Todd Drezner. The title refers to Drezner's son's obsession with lampposts. There is a park near their home with old-fashioned looking lampposts and the little boy has named four of  them and likes to visit them often to give them hugs and whisper sweet endearments. This is a charming characteristic most likely springing from his autism spectrum disorder. His father set about making this film in an effort to cut through many of the controversies surrounding autism, revealing the double meaning of the title. You can imagine the unfolding story as one family's journey, lit by each discovery as they seek to understand and love their son. The film ends up being a thumbnail sketch of the history of this challenging disorder, interspersed with some of the key players and their influence on society's awareness and understanding of autism.

Thirty years ago only 1 in 2,500 children was diagnosed as autistic, today as many as 1 in 110 bear that diagnosis, worldwide. Is this an epidemic? Drezner interviews parents of adult individuals with autism who grew up in the 1950s, back in the day when children with autism were usually diagnosed with schizophrenia. He talks to adults with autism who grew up in the era when autism was equated with being non-verbal, so verbal children with other symptoms of autism were labeled psychotic or neurotic. He talks to medical doctors who take the view that autism is a medical condition related to environmental toxins, and to parents who have used non-traditional biomedical treatments (like chelation, hyperbaric oxygen, and pro-biotics) to "recover" their children. The vaccine debate is aired. The secretin scandal exposed. The question of "functional grades" is considered. I think the only controversy not discussed is whether a person "is autistic" or "has autism."

Though respectful and even handed, the film makes it clear that Drezner does not fall into the camp of people who consider autism to be a disease. Obviously there is some biophysical/biochemical/neurological difference in the brain affected by autism, but Drezner argues that it should not be placed in the same category as cancer, for example, or diabetes, where a physical problem must be made right in order for a person to live and thrive. He comes down squarely against the notion that vaccines have any causal relationship to autism. He is empathetic toward parents who seek out alternative therapies as a means of "doing something" for their children, but in the end his own view that autism is a disorder that must be accepted and understood as a "different way of viewing the world" rings out.

I have previously published my own research into the "recovery movement" and still want to be clear that our personal story does not line up with the medical issues that some other parents of children with autism face. Our daughter has never experienced seizures or severe gastro-intestinal distress (unless she has the flu). She has no known food sensitivities and seems to have been on a slower developmental trajectory since birth or at least very early newborn days. Still it is hard to discount another parent's story, and I still wonder if we all aren't describing two (or even more) disorders with similar symptoms but different underlying causes. The old analogy of blind men describing various pieces of an elephant to each other and arguing about what an elephant is like comes to mind. In this case perhaps each blind man thinks they're describing the same animal, but perhaps instead one is feeling a kangaroo while another is feeling a wallaby. Some pieces are the same, but in the end they are a different beast.

My favorite portions of Loving Lampposts are when we see and hear from various adults with autism. There is an older man who makes beautiful pottery to support himself in an apartment where various individuals assist him in daily tasks and routines. One woman particularly affected me because she prefers to speak through her computer, though at one point in the film she does speak with difficulty. Her computer lets her intellect shine through as she composes quite cogent responses to fairly philosophical questions. Perhaps my favorite is the woman who decided to keep a pet refrigerator. I feel I have a lot to learn from these adults who are able to express what they have learned about themselves and about autism along the way. I know it helps me understand better how my daughter sees the world around her.

This is a compelling film. I did not expect my husband to view it with me, but after standing through several promos of other films marketed by the same studio he eventually sat and watched the entire film. It opened some lines of discussion for us that we had never voiced before. I would recommend that anyone who wants to understand more of the history and controversy swirling around this increasingly common disorder should watch this movie, and soon. Loving Lampposts has been making the circuits of independent film festivals and will be released on DVD on March 29, 2011, just in time for National Autism Awareness Month (April).

Disclaimer: Cinema Libre Studio sent me a promotional copy of Loving Lampposts for review. I received no other compensation, except opened eyes and a warmed heart.

Remembering To Do What We Already Know

Here's my latest post over at 5 Minutes for Special Needs. I don't always remember to link this up here. I figure people are more likely to find these pages from there than the other way around. This one can be taken from a very practical side (using a visual schedule) but is also a philosophical mindset that I'm trying to apply. If I already know how to help my daughter in many ways, then half of the victory is just remembering to do it, instead of taking the lower barrier approach of losing my temper!

V is for Voice Modulation

I thought I would try out the Alphabe-Thursday blog hop this week. It is sponsored by Jenny Matlock over at off on my tangent. The idea is to write about something that starts with a given letter. The letter this week is V. I toyed with the idea of writing about "Very" which is one of my daughter's favorite words, but I couldn't remember all the funny ways she uses it. I'm so used to her odd ways of expressing herself that I almost have to write them down to remember them.

Voice modulation came pretty quickly to mind...it is a skill that none of my children have mastered yet, and so we live in a Very noisy household. I keep hoping that one of these days they will get it. We talk about using our inside voices all the time. I try modeling a nice calm tone, but often I have to raise my own volume simply to be heard above the din.

I was probably a bit of a loud child myself. My parents have audio recordings of me singing my little lungs out when I was about five. In the midst of a whole choir of children my voice rings out above the rest, and I doubt I was near any kind of microphone. I still have a good set of pipes. Back in my work days I could stand in the largest lecture hall at University of California, Berkeley - I think it seats 400 or so people - and without a microphone I could make myself heard in the back row. I only did this for brief announcements, but it was easier than switching the lapel mike back and forth with the professor I was working with. It shook a few people up. I do, however, know when I need to be quiet, and, in fact, prefer to be quiet. It is such a lovely sound, quiet is.

So my children have all inherited the good pipes, but haven't quite mastered the quiet part yet. We visit the town library and I cringe as we walk through the adult areas on our way to the children's section. I model whispering and the kids reply, "What, MOM? TALK LOUDER!"

I've been wondering lately if there's anything to do about all of this, or if I just need to keep reminding, modeling, cringing, and waiting.

The reminding gets old. How many ways can you ask a kid (positively) to lower their voice. Inside voice, honey. Let's use voice #2 right now (there's a whole scale running from zero (not talking) to #5 (yelling because the house is on fire)). Softer, please. That's too loud. Oh, you're hurting my ears. If you want to be loud, please go outside! QUIET!!! I've tried them all, repeatedly, daily, times three, and I'm Very tired of them all.

The modeling, as noted above, is sketchy. It's kind of an automatic response to raise your voice if you feel like you're not being heard, and with all three of my kids jabbering away at their maximum volume I often feel like I'm not being heard.

The cringing is nerve-wracking. With my twins I can usually count on people understanding that they are just preschoolers still learning all of the social cues of when to be quiet and when it's okay to be loud. With my oldest I understand that she is also, due to her developmental delays, still learning all of those same social cues, but to a total stranger she must appear plain old rude. Let them hear with grace, Lord.

I guess that leaves the waiting. I am...oh, I am!

Encouraging Reading and Writing

I love reading. I love writing. I have loved both for so long that I can't remember ever not loving them. I spent many hours during long hot car trips soaking up Nancy Drew and Charlotte's Web, Ramona, and Pippi, and whatever else I could get my hands on. There were days Mom begged us to go outside because my brother and I had settled in to good books and didn't want to put them down. I wrote my first poem when I was five and only struggled a little with writing in college when I had to write papers on books that I didn't really care much about like Thucydides and Ulysses.

I always imagined that my own kids would also love reading and writing, that it would come naturally, and that the simple act of having good books around for them to read would be sufficient. I actually started collecting children's books long before I had children...during my grad school days I signed up for a Dr. Seuss reading club (made up a kid just for fun) so I had a good set of Dr. Seuss, Berenstain Bears, and other easy readers on my shelf already when my oldest daughter was born. Of course I had never particularly imagined having a child with language delays, motor skill delays, or self-regulation issues, all of which have impacted her interest in and aptitude for reading and writing.

I am by no means an expert in early childhood literacy, but I think we've done a few things right in this area. One really key thing is to keep it fun, because if it's not enjoyable then it loses half of the point, in my opinion. Reading and writing require real effort for my daughter, so if she loses the reward of having fun while she's doing it then in the end it is just work - ugh.

Have good reading materials available - I already mentioned our collection of children's books. We keep these and several kid friendly magazines available on low tables and bookshelves at all times. Often this means I'm picking up books, and stacking them again, but if my kids have been looking at books it is worth the extra effort for me.

Visit your library often - We have a great public library with good programs for our kids. There are story times and craft times, and the children's librarian is so friendly and talented with the kids. We go even when there aren't story times because it's free (unless I'm late returning a book) and it gives us somewhere to go. The kids each pick a book and a video to take home. My oldest has been complaining lately that she doesn't get to go as often, so I think we'll head there some on the weekends soon, too.

Read to them - We read a minimum of one story per kid every night before bed. No matter how late it is. No matter what else has happened that day. They pick the story. Now that my oldest is reading a little on her own we ask her to read at least some part of the story - sometimes a page or two, sometimes every other page, sometimes the whole thing depending on her willingness. Remember it's supposed to be fun.


Think outside the book - There are lots of "environmental" texts available to read. We read signs, receipts, mail, shirts, and grocery lists. Likewise we write notes, lists, names, and menus. Just look around - there's a lot to read and write!

Use the computer - My daughter loves Starfall, a phonics-based reading program with games and art activities. Our school also uses Lexia. She also likes getting on the word processing software and writing cards and notes there. Anything that gets her practicing sounding out words and building sentences is open game in my book.

Be a good example - This is one area that I have no problem modeling for my daughter. I still love a good book, when I have time to read them. It's important to show that reading is not just work, that it can be a fun activity, too.

What ideas do you have for making reading and writing fun?

Speech and Language Delays

Language delays are defined as any communication skill development that lags behind children of the same age by more than a year. This is the most common developmental disorder in children, affecting up to 10% of children. It is more common in boys than in girls.There are several possible underlying causes of language delays including:

• hearing impairment
• dyslexia
• cognitive delays
• maturation delay
• cerebral palsy
• autism
• congenital blindness
• Klinefelter syndrome
• receptive aphasia
• expressive aphasia
• apraxia (loss of coordinated movement without motor or sensory impairment)

In some cases environmental situations that limit verbal interactions with adults or peers can also contribute to language delays. Maturation delay refers to "late talkers" who often catch up with their peers before starting school - this often runs in families.

Although there is wide variation in when children begin to communicate, the rate of language development, and the pattern of speech development, there are some key language development milestones to keep in mind. In my experience being aware of any delays or differences in your child's communication between the ages of 6 months-3 years is critical. At 3 years of age you can request a speech assessment through your local public school district and any issues can then be addressed with Early Intervention services. If there are significant challenges before age 3, you can ask your pediatrician for a referral to a developmental specialist. If your pediatrician assures you that children develop at different rates, but you are still concerned, you can continue to request a referral. Explain your concerns in more detail if necessary. Specific delays to be concerned about include: not babbling by 12 months, not understanding single commands at 1.5 years, not talking by 2 years, not using sentences by 3 years, not telling a story by 4-5 years. The challenges may also include an inability to follow directions, slow or garbled speech after age 3, difficulty putting words in the correct order (syntax), or problems with articulation (phonology).

One key issue to be aware of is the difference between receptive language and expressive language. Receptive language refers to a child's ability to understand and process the words spoken by people around them. Expressive language refers to a child's ability to initiate communication by requesting something or commenting on events around them. In normal development expressive language lags behind receptive language, thus your child should be able to understand and comply with simple one step commands (e.g. get your shoe) before they can vocalize a sentence of similar length (e.g. that's my shoe). If both domains are apparently delayed and if no hearing impairment is present a full developmental assessment should be requested.

About 60% of language delays resolve on their own. Early intervention can prevent related social, behavioral, and emotional issues. Left untreated language delays may lead to selective mutism, where social anxiety hinders a child's ability to talk with peers, large groups, and unfamiliar adults. There is no known way to prevent language delays.

After a language delay has been diagnosed there may be several professionals involved in various therapies to encourage language development. The team will certainly include a speech and language pathologist (SLP), and may also include an audiologist, a psychologist, an occupational therapist (OT), and/or a social worker. Parents can play a key role in encouraging language development in their child. In addition to initiating assessments and informing the team of professionals of your child's unique abilities, preferences, and challenges, you can help make your home a language rich environment. We were fortunate to learn about the Hanen Program fairly early in the process of understanding our daughter's delays. We attended a Hanen Workshop where we learned to modify our activities and our language to encourage richer language experiences for our daughter, before we even understood that her language delays were the result of an autism spectrum disorder. We also used their It Takes Two to Talk workbook to find games and stories that encouraged conversation.

To learn more about speech and language delays, you can get started here:

• Answers.com language delay - be aware this is written in a very clinical style which may be disturbing to some parents.
• American Academy of Pediatrics - I particularly like the way this page relates language delays to autism. Their list of "warning signs" of autism is more comprehensive than others I've seen, and the discussion of receptive and expressive language delays toward to bottom of the page is particularly enlightening.

Book Review - Special People Special Ways

 We are beginning the adventure of explaining to our daughter what her challenges are, where they come from, and how she can use her strengths to overcome them. It's an adventure that we knew would come one day, and one that we have started as some of her peers have started to notice and comment on her differences. We want her to be able to explain it to others and hopefully become her own best advocate. Eventually her siblings will need to understand why their Sissy is different, too. I've been looking around for resources and came across this book one day at our local library. We have been advised by trusted resources that the first step of the journey is to begin to recognize and comment on "differences" in people in everything from hair color to physical abilities. Each day I try to point out one way that people are different from each other. One day it was how people get to school. We want to make "differences" be normal. This book coincided nicely with that goal.

Special People Special Ways is written in rhyme, which makes it a catchy read for language learners. Every page has sweet illustrations of children with different abilities and ethnic backgrounds. Of course in the illustrations as in the real world the most obvious "differences" are physical - a wheelchair, a white cane, a guide dog (or monkey!), or crutches. Still the text addresses children with communication challenges, learning challenges, and more subtle differences. The overall message of the book is that each child is unique, each child is valuable, and each child needs help in different ways. Everyone is important and loved. We read the book with all of our children and enjoyed interacting with them around these characters. It is targeted toward a young audience, I would say ages 4-7. It does not address any deeper questions about the various challenges these children face.

I think this is a beautiful introduction to the diverse needs of people all around us. I was sad to have to return it to the library and will probably seek it out again as we approach the next phase of the adventure. Stay tuned.