Monday, June 30, 2008

Blogger Taking Coverage Requests for 2008 ASA Conference

My Theme This Week: Anything happening in the Good Ole USA. : )

The big conference for Autism Society of America is coming up soon. It will be held July 9-12 in Orlando, Florida. One blogger from Florida will be covering the conference starting July 10th on her blog Cafe Autism. The author, Nancy N., is taking requests via the comment section of her blog. On a comment posted at my site on Friday's post, Nancy wrote:

"If anyone has any requests about what they would like to see me cover at the conference I would love them to contact me through the site at! I'm going to focus on stuff for parents."

My thoughts: I checked out the ASA conference schedule, which I'd suggest visiting before making a request. There will be an Exhibition Hall with vendors, poster sessions, and keynote speakers which include Temple Grandin, Dr. Robert Hendren, and James Ball.

There are also several educational sessions geared toward parents. It looks like there are a lot of great topics to choose from. One session (3225) that looked good to me was titled "With Open Arms: Creating School Communities of Support for Socially Challenged Kids by Mary Schlieder."

Unfortunately another one that looked really good is to be held at the same exact day and time, which is I believe is Saturday July 12 from 10:45 to noon (although this should be doubled checked as I am blogging in the morning when I tend to have brain fog). It was titled: "Ten Things you need to know Before your child turns 18" by Jaime, Tracy and Bryan Parent.

Perhaps, Nancy should blog about how to be in two places at once. That one would be a particularly useful skill to parents of children with ASD. ; )

Anyway, although my child is just about ten and Nancy's daughter is only five, the very last session listed looks interesting too. It's titled "Teaching the Hidden Curriculum of Sexuality: Guiding Adolescents" by Kristi Sakai. I'm thinking ahead!!!

Note of Interest: While I have only been living here for five years, Nancy grew up in Mt. Pleasant, MI. She writes, "I live in FL now though - no snow here! My grandmother is still in Mt. P, in assisted living at Maplewood. I haven't been up there since 2001 though, unfortunately. I miss it."

Friday, June 27, 2008

Facing a New Michigan Booster Seat Law

Theme for the week: uncertainties

We have three days before Michigan's new seat belt law goes into effect. This is a paragraph from one news story about the law which goes into effect on July 1, 2008:

"Gov. Jennifer Granholm signed a new booster seat bill into law [March 27, 2008]. The new law requires all children in a motor vehicle, under the age of eight and shorter than 4 feet 9 inches tall, to be securely fastened in a child safety seat. The law takes effect July 1, 2008."

Our Predicament

Now, while I'm all for child safety and obeying laws I do have a legitimate concern. My oldest, who is on the autism spectrum will be ten in August and has not been in a booster seat for years. Our problem is that he is only four foot one and looks and acts two or three years younger. (He also has a kidney condition that has interfered with his physical growth.)

I might have to start carrying information around that proves that he is indeed over the age of eight years old. This may come in handy in case we get pulled over by the police or if a well meaning adult stranger who notices our oldest is not complying with the law says something to us.

I think (but am not sure) that the word "and" might exempt us from requiring our son to ride in a booster seat. If the key word was "or" then we'd definitely be required to follow the law. Our predicament all depends on the proper interpretation. I should probably consult a lawyer or write a state representative (ahead of time) just in case we get into a pickle involving this law.

I can't imagine trying to get my guy to start climbing into a booster seat now. As most parents of children with ASD know, trying to to convince such a child to change their ways after several years is more than a little difficult. In terms of safety, a headstrong child with autism who has the ability to spring themselves from a booster seat while the vehicle is moving is definitely not safe. A driver being distracted by a child screaming at the top of their lungs to get out of their booster seat is not safe either.

That said I have two different things going for me. My son is very much into following the rules. If I show him the law, I might be able to get him to comply. The other thing is that my guy loves green and loves comfort. If I find a comfy green seat, or a seat with green material than it may be easier for us to comply. I should probably start looking.

As for my other child, he's been in a booster seat for years. He's five, but small for his age and weighs under forty pounds. Guidelines state that if a child is four or under 40 pounds, then he or she should ride in a booster seat. My little guy, though, won't be happy when he finds out that he'll have to stay in his seat for three more years. He's been begging to get out of the seat for months.


Tuesday, June 24, 2008


Image: Last week I was suprised to find that my voice had transformed into a froggy-like croak.Theme for the week: Uncertainties

It can be said, I suppose, that we all take certain things for granted. We find out how much we are guilty of that when all of a sudden something happens. Maybe the power will be knocked out by a storm and the ability to flip a switch to get light will be lost. Some of us know by experience that flipping a switch during such times is a habit that is not easily broken. Not even by a power loss.

But no matter how much we flip that switch, darn it, the light just won't come on. At such times we are at the mercy of anonymous electricians who will fix the problem at an unknown time. The control of the situation is up to someone else. Depending on one's mood, the situation can be handled in different ways. For instance, the lack of power can be celebrated with a candlelit dinner (of cold or room temp delicacies) or cuddling by a fireplace. Or it can be mourned by crying into a mobile phone to one's husband (who happened to be in Hawaii) while huddling in the bathroom at midnight to a single flicker of a candle. Yes, that was me at the end of a bad day last January.

A week ago (last Tuesday) I found myself without a different kind of power. Vocal control. Allergies combined with a cold knocked out my ability to speak. I could whisper. I could croak. But I could not use my firm voice to let two little boys know that I meant business. Whispering and/or croaking does not have the same power as a stern (but not too harsh) vocal command. A couple of knowing moms I emailed about situation noted that my boys were probably quite happy with the situation.

Anyway, my state of voicelessness happened to occur on the first day of summer vacation that I was home alone with the boys. Fortunately I was in a strong, happy mood. Anxiety did not rule that day and the next, which was good because my son with a mild form of autism can "smell" fear and has the potential to take full advantage of such a situation. Fortunately he was a very good boy that day. Perhaps that had something to do with my happy mood. Perhaps he was just happy too. I don't know.

I am glad to say that unlike last January I had mental control of my situation despite the "power failure." Also, unlike last time, I also had more control of my physical situation. I believe that resting my voice, drinking honey with tea, eating chicken noodle soup for two lunches in a row, and taking in a couple of straight shots (one on each day of voicelessness) of Southern Comfort (that was my husband's idea and I found it to be the worst tasting medicine ever!!) brought my voice back sooner rather than later. To my sons' probable dismay, mom's vocal power has once again returned.

Monday, June 23, 2008

Miracle: Wisconsin Man with Autism Found After a Week

Two fire fighters had been about to give up their search of what they thought was a recovery mission when they stumbled upon Keith Kennedy, the Wisconsin man with autism who had been missing for a week. The recovery mission bounced back into a rescue operation when Kennedy moaned.

He was naked, covered in insect bites, and dehydrated, but definitely alive. In a recent article, Kennedy's mother called the rescue "a miracle." I can only imagine her joy and relief. The rescue of her son came just before the search which involved hundreds of volunteers, was going to be scaled back.

I had been aware of Kennedy's disappearance since it occurred, but had not realized that he was on anti-rejection medication for a kidney transplant as indicated in another press release. Although, my own son is less likely to wander off and get lost, my child with autism/pdd-nos was born with one kidney and may also need a transplant someday. Hopefully the dehydration will not severely affect the young man's kidney condition. For now though, it is just great to know that he is alive.

Friday, June 20, 2008

A "Test" of Vision

I cut and pasted the following from an email. It was a forward: one of those chain-letters that says if you forward it, your wish will come true. I don't waste time with those, but I did see the value in the exercise below. I'm wondering if people on the spectrum would find this really hard or really easy. I guess it depends on the individual. My son doesn't like to see "a wall of words" (my phrase, not his) when he reads. He'd probably find the "test" below really difficult. I'm thinking of enrolling him in vision therapy. Let me know what you think about the test. Good luck!

Here Goes... Can you find the B's (there are 2)?


Once you've found the B 's ...

Find the 1:


Once you found the 1...

Find the 6:

9999999999999999999 999999999999999 9999999999999999999 999999999999999 9999999999999999999 999999999999999 9999999999999999999 999999999999999 9999999999999999999 999999999999999 9999999999999999999 999999999999999 9999699999999999999 999999999999999 9999999999999999999 999999999999999 9999999999999999999999999999999999 9999999999999999999 999999999999999 9999999999999999999 999999999999999 9999999999999999999 999999999999999

Once you've found the 6...

Find the N


Once you've found the N... Find the Q.


Wednesday, June 18, 2008

A Loving Dad Reacts to a Diagnosis

Theme: Dad's week

According to his wife Marla, her husband Joe makes a mean apple pie and is a terrific husband and father to their little girl . Their preteen was diagnosed with a rare chromosomal disorder about a year ago and also displays autistic traits. When I put the request out for suggestions for dad's week, Marla told me about a post that Joe wrote back when their daughter was diagnosed. She said that even though he doesn't write much on his blog, One White Pixel, she loves the post he wrote after they received the diagnosis at the Cleveland Clinic.

I loved the post too and was impressed how Joe lovingly wrote about his daughter while also explaining the disorder (that involves extra matter on Chromosome 6) in terms everyone can understand. I also liked his profile where he writes that he has "an incredible wife" and "a perfect little girl." Below is an excerpt that captures Joe's reaction to his daughter's diagnosis.

From Joe:

"Now, as sad and heart breaking as this all is, I remind myself every time I remember to, that Maizie is wonderful and amazing and a triumph. She is as God created her. Raising her and being in her life is a great gift to Marla and I, proof that there must be a universal plan. If other people see the extra challenges this brings to our lives, there are a lot of extra joys and blessings. I really really like the genetic test results too: imagine the relief where for the first time in nearly 10 years, you are presented findings that your daughter is having problems and it's not diet related, not from being dropped or shaken, not from lack of love or heavy metal poisoning or allergies or magnetic fields from over head power lines or vaccines or because of a birthing factor or because of the Sign she was born under. Whew. "

Monday, June 16, 2008

A Hero for a "Hero"

This week's theme: Dads of special needs children

Today I'm going to meander away from the topic of autism and write about a family affected by epilepsy, a neurological disorder characterized by seizures. I don't watch the popular (and tempting) American television show Heroes, but I became a fan actor Greg Grunberg way back when the original episodes of Felicity were airing on television.

After reading a recent article, I think I can still call myself a fan of the well known actor that obviously has his priorities set straight. Greg Grunberg's job is to play a mind-reading police officer on Heroes. In real life he is a husband and a father to three boys. His oldest son Jake, 12, has epilepsy.

Grunberg also plays drums for the group, Band from TV, and supports awareness and fundraising activities for his favorite cause: epilepsy. However, the modest Grunberg, said his son Jake is the true star of the family. In a recent article in People magazine, Grunberg is quoted as calling his son "his hero." An example of the younger Grunberg's heroics is performing a Taekwondo routine for a school talent show minutes after having a seizure.

A quote from the article: "I was like, Jake, don't worry about [the show], it's not a big deal," he recalls. "But he had this steel look in his eyes and said, 'I'm doing it.' If that happened to me I would go home and bury my head in the sand. He doesn't let anything stand in his way. I'm so lucky to be his dad."

My thoughts: This isn't the first time I've heard a parent of a child with a health condition call their offspring "a hero." Sometimes the child can be considered a hero for inspiring a parent to be a stronger, better person. As for the dad featured today, something tells me the feeling is mutual between Jake and his dad, Greg. In my opinion, both Grunbergs are heroes.

Belated Father's Day Post

Theme for the week: Dads, of course!!

Photo: This one was taken of my three guys around Christmas time. There they are playing a Backyardigans board game game. The old saying is that a picture is worth a thousand words. I hope this one speaks volumes as to what a great dad my husband is. Happy belated Father's Day Michael!

We spent part of yesterday in "the Lorenzen mobile" (our minivan) traveling back from Ohio, where we had been since Thursday evening. Once home the boys remembered to pull out the presents with homemade they hidden two different closets. The gifts and cards can be attributed to our thoughtful babysitter who had them decorate mini trays with stickers.

I feel the need to do something for the dad in my little family too. So the boys and I will go to the grocery store this afternoon to pick up items for a belated father's day feast. We will probably choose a small gift too.

As for the grandfather's in our family; I put two geraniums on my dad's grave. It seemed appropriate because he always planted geraniums in front of his house. He also decorated the graves of several family members with annuals without fail every May. He still had a lot of decorations on there from his early May funeral. Since he died my step-mother has received a stack of cards that is about a foot tall. People loved and respected my dad. It's an honor to be his daughter.

We took Grandma and Grandpa Lorenzen out to dinner to a Mexican restaurant for a Father's day and belated Mother's Day gift. Grandpa Lorenzen let my oldest, the one on the spectrum, pick out which place to go to. I'm surprised he didn't pick Subway, but then again he loves Mexican food too!!

For the rest of the week I'm hoping to post about dads in regards to autism or people with special needs. If you have a favorite blog written by such a dad, let me know and I'll feature it. Hope all the dads out there had a very happy father's day!

Wednesday, June 11, 2008

A Mom's Introspective Photo Essay: Choosing Joy

I recently read an article about Actress Anne Hathaway who said she learned to "choose joy" from her mom. That sounds great, but it can be a little difficult to do that when one has a special needs child and life in general seems overwhelming and beyond one's control.

However, with a little effort and some knowledge, it is possible to move away from dark fuzziness and into the light. Sometimes medication is necessary, but a positive attitude and feelings of gratitude also helps immensely. So does a little goofiness. It can be a good feeling to know you are needed. Tapping your internal override button to feel joy may be hard, but it is possible.

A very wise person (my husband) told me that I'll never get the present day back, so I might as well make the best of it. Why feel gloomy all day, every day? Sometimes a little gloom is Ok and appropriate, but when you have a family and people who love and need you it's important to choose joy. Have a happy day today. Take care, jml.
P.S. I am going on a little blogging break. I'll be back on Monday.

A Five Year Old's Fashion Sense

This is my neuro-typical son who happens to have the fashion sense of a five year old. Well, actually he was four last summer (2007) when the photo was taken. His style hasn't changed much since then. He still wears his beloved green rubber boots. Occasionally we check his style before he goes outside. To his dismay he's only allowed to wear those boots when its raining!
Sometimes we have to remind him that one doesn't wear wool sweaters in the summer or shorts in the winter. I suppose there will be a time when this picture will have the potential to embarrass him when/if his parent(s) show it to peers or a significant other.
But, oh, to be five again when wearing green rubber boots and a blue hat while holding a pink umbrella is adorable. I'll just have to wait until I'm old enough to wear a red hat with a purple dress. Or maybe 'll pick my own quirky style. I'm thinking a yellow dress with multi-color polka dots, a turquoise hat, and purple shoes. What would you wear if you just didn't care?

Tuesday, June 10, 2008

Rebellion: Self Portraits of my Son and Frida Kahlo

Photo: A joyful self portrait. Here my son had grabbed the camera from my hands and is rebelling with glee by taking a picture without permission. Once the camera was in hand, I admittedly let him take the picture as to avoid a meltdown.

Yes we were in a car, but it was parked. I was trying to quickly snap my own portrait before taking the film into be developed but failed so miserably that I won't be publishing it. My brow was furrowed and I looked strained. His happy attempt was much more successful. Frida Kahlo looks strained in this picture but unlike my own attempt, it is a successful kind of strained. This is a portrait that will be long remembered, unlike my son's picture or my own (which I need to delete). Kahlo's work deserves the recognition. She probably took hours to create her portraits, while my son took all of five seconds to capture his. Anyway, this well known artist dealt with pain for most of her life which may account for the strained expression.

Like my son, Kahlo was also a rebel of sorts. Although born in 1907, she claimed her birth date was during the same year as the start of the Mexican revolution. She also refused to buckle to the expectations of seeing ladies without excess facial hair or a unibrow. The depiction of facial hair in her portraits was her trademark. I could rebel in that fashion, but would rather not!! Call it vanity, self preservation or just plain timidity.

My point: Rebellion has it's advantages sometimes. Kahlo's rebellion led to a successful painting career. It gives me hope. It's possible he could be a photographer, director or have some other successful career. My son rebels against us and his teacher at times. But fortunately sometimes rebellion means putting a new way of thinking out into the world. It can also mean staying strong and confidant.

Monday, June 9, 2008

Beauty is in the Eye of the Beholder

Beholding the Beauty of Dandelions

My five year old recently picked a bouquet of flowers for me. I'm can't quite remember what the purple flowers are, but I'm pretty sure he snitched them from a neighbor's yard. We'll have to work on respecting other people's gardens!! I pretty sure though, that no one minded that he picked their dandelions.

Oh, the dandelions! I remember picking a humongous bouquet of them for my teacher during recess as a third grader. I plucked them from the big field behind my elementary school. There were plenty left when I was done.

I'm not sure how my teacher felt, but I thought the "flowers" were beautiful. I have always admired dandelions. However, my husband and neighbor do not like them. They believe they are weeds to be eliminated. Every year to my dismay (because of environmental reasons as well), a garden service comes to both yards to spray for dandelions and other weeds. As a result we have the "weedless" lawn that many homeowners find ideal.

So many people find dandelions to be a nuisance. The beauty of that "weed" is lost on them, but their perspective is lost on me. To me dandelions represent so much.

When my older son on the spectrum was the age of my youngest, he called dandelions "bumble bees." I can imagine the misunderstanding that occurred. A bumble bee was probably hovering over a dandelion when I pointed the insect in question out.

At age nine, my guy now knows the difference between bumble bees and dandelions. It's something I can rejoice in when I think about the progress he has made. The efforts of speech therapists and his parents have paid off. So has his desire to be understood.

So now, to me the dandelion isn't just a bright beautiful flower. It's also a symbol of progress.

Thoughts about the Photo: I know today's picture would never win a photography prize. While it's perfectly clear in print form, it's a bit out of focus here. It also has been admittedly cropped. As a scrapbook feature, however, this photo has a lot of potential. Accompanied with the story above with the said cropping and the right choice of paper colors, the image above will be as treasured as my memories.

Thursday, June 5, 2008

Recent Article Provides More Insights About Girls With AS

Yesterday I wrote a post on an article speculating why girls on the spectrum, particularly those with Aspergers Syndrome (AS) may not get a diagnosis. I agreed with the author that girls with AS may be wired to blend in better than their male counterparts, but also noted that this doesn't mean that girls with AS have it easier socially than boys on the spectrum.

The article I'm posting about today is titled "It's not just boys who are autistic". The author, Joanna Moorhead, profiled a woman with AS who thinks boys on the spectrum experience less social conflict than girls. At the time of the interview, it had been ten years Robyn Steward was diagnosed at age eleven.

At that age," she [told Moorhead], "boys aren't connecting with one another so much, but for girls it's so cliquey. Also, the stuff I was interested in seemed even more weird in a girl than a boy. It was mostly computers and music with me - boys can get away with being a bit obsessive, but it seems more strange in a girl."

In response to the article, one woman with AS wrote a lengthy comment. Bridget Orr noted that "just because you don't see women with Aspergers doesn't mean we're not here. [...] The newsletters my mother received from the local autistic society always featured a blank but crying young boy. I used to go to special schools and classes that were dominated by rowdy and moody boys, and even the misconceived stereotype of people with autistic spectrum disorders is that of a humourless and awkward-looking nerdy man with an attitude problem. I am offended most by the "awkward-looking" part. Like the girls and women featured in Joanna Moorhead's piece, I too have struggled to fit in with the mainstream and also the autistic subculture."

My thoughts: Other than not getting a diagnosis as easily as boys, I don't really know if girls are any better or any worse off than boys. It does seem apparent that there are benefits and drawbacks to being either gender in regards to having autism. (One can say the same about being neurotypical.) The issues that a person faces may depend on what gender they are, although problems/issues often depend on the individuals strengths and weaknesses as well.

Wednesday, June 4, 2008

The Challenges Behind Diagnosing Girls with Asperger's Syndrome

This week I'm posting about girls with autism. In my previous two posts I wrote about Retts Syndrome and low birth weight. Those posts were more health oriented. In my posts today and tomorrow, I will explore the issue in a sociological context.

In a previous post, I wrote about girls with autism and my skepticism that only 1 out of four or five people on the spectrum are girls. I'm wondering if there are many females with autism who have yet to be diagnosed, particularly Asperger Syndrome (AS) or mild autism.

My son was six before we were able to get a formal diagnosis of autism/pervasive developmental disorder not otherwise specified. In contrast, the reality television star, Heather Kuzmich from America's Next Top Model, was fifteen when she received the diagnosis of AS. I do realize that Kuzmich is older than my son which means that there was more information about autism available when my son showed signs of developmental delays. However, I'm still wondering if Kuzmich would have been diagnosed earlier if she had been male.

One author of a recent article titled "Girls with Asperger's Syndrome:
Gender Differences in Behavior and Social Interaction "
came up with a few reasons why AS may be more difficult to indentify in girls. In that article, Jennifer Copley asserts that girls with Asperger Syndrome are more inconspicuous than boys because they have:

  1. Invisibility Strategies
    Girls with AS are adept at disappearing within a large group, staying safely at the periphery without really interacting socially.
  2. Camouflaging Strategies
    Girls with AS may appear to use ordinary gestures and facial expressions during a conversation and to reciprocate appropriately. However, in many cases they are basing these gestures, facial expressions and responses on someone they have observed who is socially adept. Additionally, they use their intellect rather than natural social intuition to choose the correct responses.
  3. Seemingly Normal Interests
    Autistic spectrum disorders are characterized by narrow, obsessive interests. Although boys who are obsessed with trains or bus schedules tend to stand out, there are few who question a young girl’s obsession with dolls or horses. However, the girl with AS will prefer to play with her dolls alone rather than with other children.
  4. Avoiding Physical Activities
    Because girls are less inclined to engage in rough-and-tumble play, their difficulties with motor coordination may be less apparent. Girls with AS may avoid physical activities in which their motor skill deficits would be noticeable.

Copley also asserts that girls are more social than boys and that if they exhibit little professor traits they are more likely to be seen as merely being intelligent. She also says that other conditions like Anorexia Nervousa may mask the condition.

My thoughts: Does the professor-like Hermione Granger from J.K. Rowlings Harry Potter series have Asperger Syndrome? Hmm. I always thought she was "just brainy." Seriously, though, it's up to the professionals to decide who has Asperger Syndrome and who does not. They have their work ahead of them in terms of identifying AS in girls.

Anyway, according to Copley's article it seems like the author is saying that girls with AS have more innate social skills than boys. Her points make sense, but I should note that this doesn't mean (and I don't think Copley is saying this) that girls with the syndrome are better off in society than boys. Tomorrow, I will write a post about an article (published online just yesterday) that explores more fully the difficulty that girls with Asperger Syndrome encounter.

Tuesday, June 3, 2008

CDC Reports Connection Between Low Birth Weight of Girls and Autism

My theme this week is girls with autism. Yesterday I wrote about a genetic study on Retts Syndrome which affects only girls. Today I'm writing about new research conducted by scientists at the National Center on Birth Defects and Developmental Disabilities at the CDC.

According to an article about the study, recently published in Pediatrics, their study reveals that there is a connection between baby girls with low birth weight and autism. The connection wasn't expected, especially considering that autism is more common in boys with one girl to every four or five boys being diagnosed.

Diana Schendal, lead scientist at the Center and her colleague Tanya Karapurkar Bhasin looked at the records of 565 children born between 1986 and 1993. The scientists considered whether the children were born early, small, or both, and whether they had autism and other developmental problems. Then they divided the children with autism into three groups: those who had autism but no other developmental disabilities, those with autism who also had an intellectual disability, and those with autism and more than one other developmental disability

Schendel and Bhasin found that girls had a threefold or higher risk of autism if they were born with a low birth weight (less than 5.5 pounds) in comparison to boys, who had less than a twofold risk of autism if they were born with a low birth weight. The scientists also found low birth weight and early preterm birth (less than 33 weeks' gestation) affected groups of children differently, depending on whether they had autism alone or autism and other developmental disabilities. Although preterm birth earlier than 33 weeks was not statistically linked to autism for boys, there was a significant fivefold increased risk seen for girls with autism.

Here is an excerpt from the original article:

"There may be a lot of variation in the endpoint we call autism," Schendel tells WebMD. The study result, she says, "really is highlighting that we aren't looking for one cause of autism ." The study builds on previous research, some of which has also found a link between low birth weight and autism."What is new in this study is the in-depth look at the gender effect," she says.


Schendel can't explain why the low-birth-weight girls were found to have a greater risk than the low-birth-weight boys. Both low birth weight and preterm birth are markers, she says, that something may have gone wrong during the pregnancy. The poor fetal growth resulting in low birth weight may be associated with developmental problems. Or, on the other hand, low birth weight may be a marker of a fetus that's already adversely affected neurologically, she says."We don't know if it's the low birth weight ... causing brain damage, or whether the brain damage has occurred and low birth weight is the consequence," she tells WebMD."

Monday, June 2, 2008

Retts Syndrome: New MeCP2 Study

I recently came across a new study on Retts Syndrome that looked interesting. This particular study had surprising results (see excerpt below) that transformed previous scientific thinking. Retts Syndrome, which is under the Autism Spectrum Disorder umbrella, is a genetic disorder involving the MeCP2 gene. Retts Syndrome affects girls and is caused by a deficiency of the gene.

Girls born with this disorder develop typically for the first year of life then experience developmental regression. Speech and fine motor skill loss occurs and symptoms like hand flapping, sleeping problems, seizures and moodiness appear. According to an article about the study, girls with Retts also tend to exhibit stunted growth and have smaller brains than their NT counterparts.

Here is an excerpt from the article in Science Daily about the study:

"A study funded by the National Institutes of Health (NIH) has transformed scientists' understanding of Rett syndrome, a genetic disorder that causes autistic behavior and other disabling symptoms. Until now, scientists thought that the gene behind Rett syndrome was an "off" switch, or repressor, for other genes. But the new study, published today in Science*, shows that it is an "on" switch for a startlingly large number of genes.

Rett syndrome is caused by a deficiency of the MECP2 gene. It occurs almost exclusively in girls, robbing them of language, cognitive and fine motor skills around the time they are learning to walk. Having extra copies of MECP2 can also cause Rett-like symptoms.

By manipulating the number of copies of the MECP2 gene in mice, the authors of the new study found that it controls thousands of other genes, suppressing some, but activating most. The research was funded by the National Institute of Neurological Disorders and Stroke (NINDS) and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), both part of NIH."