Thursday, July 31, 2014

Emergency Contact Bead Bracelet


I wanted to take a break from serious topics and have some crafty fun. I made some bead bracelets for Aiden and his little sister Haley. These are more than fashion accessories, they are emergency contact bracelets. I wanted to share how I made them, they are easy, quick to make (took me about 6 minutes per bracelet) and budget friendly.

First go to your local craft store. You will need:

1- Elastic Cord
2- Decorative Beads of your choice
3- Number Beads

You are also going to need a pair of scissors.

Measure the length of cord you will need, by wrapping, not stretching, the bracelet around your loved one's arm. After an end to end measurement, add about an inch of cord and cut. Lay out your bead pattern, be sure to include a colored spacer between each set of numbers. The size of the wrist will determine how many beads you can use. Then string your beads. Remember to leave about a half an inch of cord on either side so you can tie the ends together. 

Pick up the bracelet, pinching both ends, so the beads to not fall off. Put the ends together, between the pointer and thumb of one hand and gently stretch the ends, hold the beads with your other hand. Twist the ends together (this will make it easier to tie your knot). Tie a knot just above the beads and cut the tail. 



Enjoy your finished project! My daughter is 18 month's old, the smaller of the two is for her, Aiden is 3 and 1/2. 
You can use these pretty beaded bracelets every time you go out, no matter where it is! They will fit in great in a formal wardrobe, for church, weddings, etc, and you can use them for a trip to the play ground. If your loved one's wrist is big enough you can even add a name or ASD with letter beads. 

I think I spent about $16.00 for all the products needed to make this bracelet. Par-ooze the coupon section of your newspaper for coupons and deals from area craft stores. You can even check online for coupons from your local craft store. 

I suggest making a parent bracelet. Use the color schemes and critter beads on your bracelet so the police can match your bracelet to that of your kids. You can make as many of these as you'd like for as many phone numbers as you need. I'm going to make another set with my husband's phone number. 

Happy Crafting! 

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Wednesday, July 30, 2014

Autism and Adult Care

What is going to happen to my child when I die? That is probably the scariest question a parent can ask themselves and especially terrifying for a parent of an Autistic child. A friend of mine once said "I believe it is every mother's prayer is please Lord let me live one day longer than my Autistic son or daughter." So what does this look like? What happens and what are the options?

The National Autistic Society conducted a survey of approximately 450 children and adults with Autism, as reported by The Child-Autism-Parent Cafe. They discovered that 70% of adults with autism are unable to live independently, of those 49% live with family, and 32% live in residential care facilities. Only 3% of adults with Autism lead completely independent lives. Six percent of adults with Autism hold a job, either full time or part time. These alarming statistics repeat themselves around the world. The quality of life for our kids is strongly questioned by aging parents, caring for their growing children. In 2013 approximately 50,000 children with Autism turned 18. The public school system only provides services until the Autistic child turns approximately 21. In 2016 there will be a flood of unserviced individuals with Autism in our communities. Their families will be struggling with how to properly care for them and it is likely they will be strongly financially impacted.

In 2010 the average cost of long term care in the United States was $3,293 per month in an assisted living facility, according to the US Department of Health and Human Services. That means that in one year a family could pay, on average, $39,516 for assisted living care. According to The World Bank, the average life expectancy of an adult in the United States is approximately 79 years. So if an Autistic child goes into assisted living at 21 years-old, when school system aid stops, and lives a fairly healthy life, a family can expect to pay approximately $2,291,928 for assisted living costs, if rates stay the same. This of course does not include costs for doctors, therapists, and any other living expenses.

The US Department of Health and Human Services estimates, on average, an in home health aide costs $21.00 per hour. If they work five days a week for eight hours a day, excluding weekends, a family can expect to pay approximately $3,528 per month and $42,336 per year. An in home health aide, over a lifetime of care, from the time the patient turns 21, will cost a family approximately $2,455,488.

These services are grossly out of reach for most Americans. According to the Social Security administration the national average wage in 2012 was approximately $44,321.67 per year. Per month, the average American earns $3,693.50. So what do you do? You're not rich, how can you afford to pay for long term care? First of all try getting assistance through Medicaid. Every state is different and some offer programs through Medicaid. Please see this comprehensive list compiled by Medicaid of the state summary profiles, it will list what services Medicaid offers per state. Be sure your loved one has applied for SSI benefits. These can help immensely with any expense associated with their care. Be sure to research your specific state and the programs they offer. Sometimes there are private companies that offer grants and scholarships that will be worth considering applying for, both on the state and nationwide level.

So, now that we have dealt with the scary and overwhelming finances and discovered some tactics to overcome them, what options are available?

Adults with Autism have many options when deciding to live away from home. They fall into six categories, which we will now discuss.

Independent Living- According to a June 2014 article in Disability Scoop only 17% of individuals with Autism from the ages of 21-25 have lived independently compared to 34% of their peers with intellectual disability, as reported by the journal of Autism. Independent living is just that. The individual lives in an apartment or home on their own, or with roommates. They are solely responsible for their own money management, safety, transportation, self hygiene, grocery shopping, etc.

Supported Living- The participants in a supported living arrangement live in their own apartments, but are assisted by a worker in areas of self care and social planning. These are like group homes, since common areas are shared, but differ since the individual patient has more freedoms. Staff is usually available all day, every day in case of crisis or other need.

Supervised Group Living- This is a group home. Individuals placed in group homes are placed with other individuals who also suffer from the same disability. These patients are under constant supervision. Group homes can be found in residential areas and appear to be a typical family residence. The staff is made up of specially trained professionals that assist with daily living and social activities.

Adult Foster Care- I personally had never heard of this option until writing this article, though many articles state it is a common choice. These individuals live with a foster family. These arrangements are as permanent as possible and this family is dedicated to the sole care of an individual. They are reimbursed through the government. They may not be trained in social skill development or trained in specific Autism therapy tactics.

In-home Care- In home services are provided when the Autistic individual lives at home with their own family or friend. In home services include companions, housekeeping, therapists, and health service professionals. It may also include someone to provide personal care; usually the family member or friend will play this role.

Respite Care- Some individuals with Autism remain in their parent's home long into their adult lives. Respite care providers come to the home and provide support to the parents, allowing them to conduct their own personal, recreational, or social activities. Essentially they are adult babysitters, who allow the caregiver time to conduct their personal activities. I have seen some respite care facilities that will spend a night or two at the home with the Autistic individual, allowing caregivers to take a short vacation.

For more information please see the following articles:


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Sunday, July 27, 2014

Understanding Genetics: Chromosome 17

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There is a lot of buzz on the internet around Chromosome 17. Some researchers believe this chromosome holds the key to the "cure" for Autism. Let’s be clear on that. There is no cure for Autism and some individuals with Autism are atimately against being "cured" since Autism is not a disease or sickness, but a disorder. I am not the one insinuating that Autism should or should not be cured I am simply discussing the information I have found on this topic. I ask that we all maintain respect for each other's personal Autism journey's and refrain from passing judgment on each personal situation.  
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Chromosome 17 contains approximately 81 million DNA building blocks. There are many disorders associated with chromosome 17; in fact the list is the greatest I have seen during this series. A deletion of a particular gene on chromosome 17, a variant called CACNA1G, is strongly linked to Autism.

CACNA1G is responsible for the regulation of calcium into and out of cells. Nerve cells in the brain rely on calcium to become activated; calcium to a nerve cell is like the starter for an engine. Imbalances in this procedure can result in an over stimulation of neuron connections and can create developmental problems, like Autism and in some cases epilepsy. 

A 2009 Time Magazine article discusses a study conducted by UCLA. Using the Autism Genetic Resource Exchange (AGRE), this contains genetic information from 2,000 families with at least one Autistic child. Using 1,000 of these samples from families with one son affected by ASD the researchers identified a region of chromosome 17 that contained genetic variants more common in boys than girls. One variant of CACNA1G is found more commonly in boys than girls. Researchers caution that though there is a strong genetic link in this region this is not the only region we should be concerned with. It simply means that more genes in this particular region are contributing to Autism. 

In November 2010 two articles were released about the connection between chromosome 17, Autism and Schizophrenia. Livescience published an article from Emory University. Researchers indicate that people who possess a specific change in chromosome 17 are 14 times more likely to develop ASD or schizophrenia than the typical population. The specific change researchers are referring to is a deletion of a particular section of chromosome 17 and this deletion is only found in individuals with ASD or schizophrenia. Researchers are clear that not everyone with ASD or schizophrenia have this deletion, but that all people with this deletion do have these disorders in some form. Researchers looked at the genetic makeup of approximately 15,749 people with developmental delay, intellectual disability and ASD. They found that 18 of these individuals had the deletion, compared to none of the 4,519 healthy controls. After identifying these 18, researchers found and interviewed nine of them. All nine had cognitive impairments and six had Autism. Researchers then studied the genetic information in two other databases of 7,522 people with Autism or schizophrenia and found the deletion again in two people with ASD and four adults with schizophrenia. Their control group of 43,076 individuals did not have the deletion. US News also published these findings, which were also published in the American Journal of Human Genetics. 

The research into the area is ongoing. It is apparent that chromosome 17 has a role to play in the impact of human genetics on Autism. 

This concludes the series Understanding Genetics. I hope this has shed light on an issue so little understood in its impact on our loved ones. The quest to understand our Autism journey comes from all aspects of our walk; this is just one part of that walk.

We hope this has helped you. Please follow us on Facebook and Pinterest for the latest daily updates from Aiden's Heroes. 

Friday, July 25, 2014

Understanding Genetics: Chromosome 16

This is the eighth entry in the series Understanding Genetics. I hope you have been enjoying the overview of just a few of hundreds of genes linked to Autism. We have been covering the most prevalent and scientifically significant chromosomes so far. On our journey to becoming well educated advocates for our loved ones, we have covered many topics, this being the most challenging for me. I love a challenge. So, with the end of our series coming up, let’s get underway in understanding Chromosome 16.

Chromosome 16 has approximately 90 million DNA pairs and represents approximately 3% of the total DNA in every cell. Scientists believe chromosome 16 contains 800-900 genes that provide instructions on making proteins, which play a role in various roles in bodily function. Additions and deletions of chromosome 16 cause a vast number of disorders and are now believed to also impact Autism. 

A 16p11.2 deletion occurs near the middle of chromosome 16. Individuals with this deletion usually have developmental and intellectual delay, and most exhibit some features of ASDs. Expressive language, or the ability to speak, can be severely impacted, but receptive language may be intact. Other individuals may have minor physical abnormalities like low-set ears or webbed toes. It should be noted that no particular pattern of physical abnormalities indicate this deletion, the physical abnormalities listed are simply the most common in occurrence. Any combination of these along with developmental or intellectual delay can indicate this deletion. The prevalence of this deletion is approximately 3 in 10,000 and most are not genetically inherited. 

In 2008 MedPage Today published an article, Chromosome 16 Mutations Linked to Autism. Researchers in Boston studied 2,252 patients with ASD and compared them with 22,200 controls. Researchers found that in most cases mutations appear to be spontaneous, rather than inherited. These errors occur during early development and usually result in a duplication of chromosome 16. In the cases of inheritance they suggest some complexity, since the parents carry the duplication, but are not necessarily Autistic themselves. In some of these parents the mutation may manifest itself as a different disorder, such as ADHD. Researchers estimate the rate of mutations appears to be approximately 1% of those with ASD, compared to approximately 0.01% of the general population.

In a 2009 SFARI article, chromosome 16, previously dobbed the key to the Autism region was not what researchers once thought. This article references a study of 45 people published in the Journal of Medical Genetics and another study of 77 individuals published by the Journal of Neurodevelopmental Disorders. Both studies found that the most common symptom of people carrying a chromosome 16 variant are speech delay and cognitive impairment. This implies that chromosome 16 may not be as big of a player in the genetics game as science once believed, but it should be counted out all together. There is still a link between chromosome 16 and Autism, but it may fall into a supporting role to other genes. 

In 2010 SFARI published another article discussing the link between chromosome 16 ties Autism to obesity. Referencing two studies published in Nature, chromosome 16, associated with Autism, is also linked to obesity and may manifest itself as both disorders in one individual. This article estimates that chromosome 16 deletion occurs in approximately 0.6% of all Autism cases. One of these studies shows that approximately 3% of those with both obesity and developmental delay disorders also carry the chromosome 16 deletion. Doctors have long noticed that individuals with developmental delay also have a tendency to be overweight. A report was published by Obesity in the January 2010 found that 23.4% of children with Autism are obese, compared to approximately 12.2% of typical children.

Chromosome 16 has interesting links to Autism. It may not be as prevalent in every individual, but it certainly does impact a statistically significant portion of the total ASD population. We hope this article has helped to you to add one more tool to your advocacy tool box. 


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Saturday, July 19, 2014

Understanding Genetics: Chromosome 15

Chromosome 15 is one of the biggest areas of genetics as far as Autism is concerned. When I started researching this particular topic I was amazed how much research and information is available. I will try to make this as comprehensive as possible.

The specific area on chromosome 15 that impacts Autism is known as 15q11-13. This particular region will be duplicated and as a result may be linked to Autism. In fact, according to SFARI, the duplication on chromosome 15 is only the second most common large genetic alteration, chromosome 16 is the first. This duplication will impact approximately 1 in 500 children referred for genetic testing for developmental or intellectual delay and Autism. In fact scientists believe that this duplication is prevalent in as many as 1 in 12,000 people, typically developing or not.

In 2012 SFARI published an article based on a study found in Molecular Psychiatry, This study made up of 31,516 individual cases found two things. First, the duplication of 15q in control subjects was rarely found, and it also identified two types of chromosome 15 duplications linked to Autism. First, an interstitial duplication within the chromosome, and second an isodicentric duplication of the region which made up a completely extra chromosome.

So what did I just say? From what I can understand, an interstitial duplication is like a bow tie within the gene. The knot created, cuts away the genetic information that would have gone there and instead both ends of the bow tie copy each other, creating the duplication. According to 2013 SFARI article this type of duplication is very rare. Usually children carrying interstitial duplications have milder symptoms than those with an isodicentric duplication, making identification harder. A study done by the University of Tennessee Health and Science Center included 14 children with a known interstitial duplication. This is the largest known study of this type, because it is so rare. They found that the duplication was a result of genes passed down from the mother in 10 out of 14 of these cases. Nine of the 10 children have Autism. Four children involved in this study had this genetic duplication that came from the father and only two of those had Autism. Usually, as far as genetics are concerned, deletions and duplications in Autism are linked to the father and sometimes lead to the disorder. This was not the prevalent finding of this research team.


Isodicentric duplications, also known on chromosome 15 as Idic(15), are also rare and are a duplication of the gene. Common features of Idic(15), or isodicentric duplications, include hypotonia, seizures, and developmental delay, hence Autism. 


In 2011 a group called Dup15q Alliance launched a patient registry which now contains approximately 243 families. Parents enter the results of genetic tests, which are verified by a genetic counselor, and then answer a questionnaire. Based on this it was found that approximately 41% of children in this registry have Autism and approximately 17% have PDD-NOS. Approximately half of the registry suffers from seizures, frequent ear infections and approximately 83% have high pain tolerance. 

Again in 2013 SFARI published an article about duplications of chromosome 15. This article based on research presented at the Dup15q Allianc Scientific Meeting in California. During this meeting it was estimated, with research support, that approximately 1-3% of the Autism population suffers from a duplication of chromosome 15. Along with seizures, individuals with this duplication may also suffer from sleep problems and poor muscle tone, all of which are common features of Autism. The University of California presented finding from analysis on conducted on postmortem brain tissue from eight people with 15q duplication, 37 people with idiopathic (no known genetic link) Autism, and 30 controls. This team from UC found that specific genes stood out, with altered expression, in those with Autism, compared to controls. What they found is that those with idiopathic autism, or the individuals who have Autism with no known genetic link, show the same genetic patterns as those with the 15q duplication. They found that these groups of altered genes may be related to the structure and function of the junctions between neurons, known as synapses, and may also be related to the function of immune cells in the brain. 

Believe me that is a lot to understand, but it all looks very promising. Deletions of 15q also have major health impacts, which mirror some symptoms of Autism. Deletions from the maternal contribution of 15q produce Angelman Syndrome, a severe mental retardation and deletion from the paternal contribution produce Prader-Willi Syndrome, a life threatening developmental delay disorder. It sounds like researchers are starting to unlock the link between genetic testing and Autism. I hope through these many research studies and testing they can produce genetic therapy to alleviate the effects Autism has on those who suffer from it. 

For more about Idic(15), please refer to this very informative paper.
To read more about Autism and Chromosome 15, please refer to this blog by Autism Speaks.
To read more about Chromosome 15, please refer to this article

We are always here for you on your Autism journey. Please like us of Facebook and follow our boards on Pinterest. Good luck. 

Tuesday, July 15, 2014

Understanding Genetics: Chromosome 7

Links to chromosome 7 and its relation to Autism, date as far back as approximately 1999. According to Science Daily, in 2003, chromosome 7 became the largest human chromosome to be sequenced. The Washington University School of Medicine in St. Louis along with approximately five other centers completed the sequencing of approximately 1,150 genes on chromosome 7. With ties to language controls, chromosome 7 additions and deletions have adverse effects on health in many different ways and are frequently seen in human cancer sufferers.

Deletion of a chromosome 7 sequence, 7Q11.23 leads to Williams Syndrome. This genetic condition affects approximately 1 in 10,000 people worldwide and approximately 20,000-30,000 people in the United States are believed to suffer from Williams Syndrome. This condition occurs equally among males and females. These individuals are very social and friendly, some describe them as "friendly to the extreme", but they may have life-threatening cardiovascular problems and may need speech and occupational therapy. These individuals suffer from difficulties with spatial relationships, numbers, abstract reasoning, and as babies may have feeding problems and colic. The comedian, popularly known as Carrot Top, is rumored to have Williams Syndrome. Orlando Bloom had been rumored to have Williams Syndrome, but this is denied by multiple news outlets. I would invite you to visit the blog of the little girl pictured below. Her name is Lauren and she has been diagnosed with Williams Syndrome.


In 2010 Yale University School of Medicine searched the DNA of more than 1,000 individuals with Autism and their unaffected family members. Among the 400 suspected genome sites they discovered that maybe related to Autism, they found the correlation between chromosome 7 and Autism. A duplication of the same segment of chromosome 7 that impacts William's Syndrome is associated with Autism and antisocial behavior. Nature published the findings in 2011. 

Researchers in the SFARI network believe there maybe links to chromosome 7 and epilepsy, as well as Autistic-like behavior. In 2005 a team of researchers identified the first duplication case. The study included 27 children who were originally seen for a range of varying issues. This team identified the duplication in these participants and determined these subjects had a range of speech related issues. The lead researcher, Mervis, expressed her skepticism of the appropriate nature of an Autism diagnosis since these children are skilled in pretend play and gesture communication. Her findings are further supported by a study conducted in 2007, which reported that people with the duplication tend to be referred for Autism, but do not meet diagnosing criteria. It is important to note that those with duplication of chromosome 7 vary in impact, which insinuates that other genes are involved, depending on the "symptoms" exhibited by the sufferer. Mervis estimates that up to 30% of her testing group inherited the duplication from their parents, who also had a history of speech problems and a high rate of social phobias, resembling anxiety. 

As recently as 2010 studies have also been conducted on another part of chromosome 7, known as AUTS2, and published by Opening Autism. Deletion of AUTS2 is caused by a loss of genetic material on chromosome 7. This loss has been associated with features of Autism as well as intellectual delay and even seizures. These symptoms are also likely to range in severity in each individual. Researchers admit that deletion of AUTS2 is not commonly tested for, so it is difficult to know how many individuals suffer from this missing sequence. It is worthy to note that individuals with the AUTS2 deletion have decreased muscle tone, which is a common feature of Autism, which can lead to feeding issues and developmental delay. Eye abnormalities are also commonly reported among those suffering from AUTS2 deletion, along with hearing loss, short stature, and seizures. So far no cure is available for AUTS2 or other chromosome 7 afflictions. 

To read more about chromosome 7 and related health issues, please see this article.
To read more about chromosome 7 and its relevance to Autism, please see this article

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Friday, July 11, 2014

Understanding Genetics: Chromosome 2

Chromosome 2 is the second largest human chromosome containing approximately 243 million DNA pairs, according to the Genetics Home Reference. It is also one of the "oldest" in human evolution. Chromosome 2 contains approximately 1,300-1,400 of the total genes that provide protein making instructions. Genetic changes to C2 (as I will now call Chromosome 2) have great impact. Several types of cancer have been identified as a result of C2 changes. Myelodysplastic Syndrome, an affliction of the blood and bone marrow, is due to three copies of Chromosome 2 strands, instead of the typical two. Deleting parts of C2 can cause many disorders such as obesity, short stature, and even Autism.

In 2004 Genome News Network reported a research study originally published by the American Journal of Psychiatry. This study included approximately 2,000 people of which 720 were afflicted with Autism. They found an association between Chromosome 2 and Autism. C2 is responsible, in part, for language development. As we know, one of the hallmarks of Autism is a language deficit. The specific gene on Chromosome 2 that impacts this area is called SLC25A12. This gene occurs with greater frequency in individuals with Autism and family members without this disorder. Researchers point out that Autism impacts many different genes, but someone with this specific gene have two times the risk of developing ASD.

In 2007, the Scientific American, published an article from research spanning 19 countries, 120 scientists, 50 institutions and 1,168 families. The report was originally published in Nature Genetics. Using specialized equipment the researchers scanned the DNA looking for variations in DNA that could contribute to ASD. They found significant variations on Neurexin 1 on Chromosome 2 and also a sequencing issue on Chromosome 11 (covered in a different blog).

What is Neurexin 1? This group of genes controls the coding for proteins involved in neuron communication. Also associated with glutamine, the neurotransmitter responsible for elevating neuron activity and brain wiring during early development, Neurexin 1 is believed to be involved in building synapses and some links which send and receive electrical signals. Some subjects of this study were found to have a deletion of the Neurexin 1 gene.

In 2011 very exciting research was unveiled by the American Journal of Human Genetics and reported at the 61st American Society of Human Genetics Annual Meeting. Medscape published an article about this research from Canada. Scientists studied approximately 2,275 subjects and discovered that in every individual affected by microdeletion syndrome on the Autism Spectrum suffered for a partial or complete deletion of a specific region on Chromosome 2, called MBD5.  This deletion was not found in any of the 7,878 control subjects with no psychiatric diagnosis. Other symptoms of MBD5 deletion include intellectual disability, epilepsy, and significant speech impairment. The size of the deletion is directly correlated with the severity of these manifestations. The team also found that this deletion also impacts RNA. RNA is vital for carrying instructions from DNA to other areas of the body. Individuals who are suffering from RNA imparts are only functioning at approximately 50% of their genetic capacity. Their bodies are only using half their road maps. This team hopes to help improve the quality of life of those suffering from this particular deletion through continuing research.

To read more about Chromosome 2, please see this video and article by PBS or this article by SFARI.

I know this article seems condensed, but there is a lot of information to absorb about Chromosome 2. I think this research is very interesting and may be very beneficial for use in future ASD and related therapies.

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Tuesday, July 8, 2014

Understanding Genetics: Y-Chromosome

In the recent years less information has become available on the involvement of the Y chromosome in Autism, but it has not vanished completely. Researchers used to believe that male prevalence of Autism proved that there were defects on the Y chromosome, but this theory was abandoned since it did not explain the female Autism population. Since then research has shifted more toward the X chromosome. The Y has not been completely forgotten. So what is the Y's involvement?


In 2012 the Simons Foundation Autism Research Initiative (SFARI) published an article about the Y chromosome. According to SFARI, Autism affects four times more boys than girls. The male, or Y, chromosome carries a total of 60 genes. As we know from the X chromosome article approximately 1 in 1,000 boys are born with XXY genetics and approximately the same amount of boys are born with XYY genetics. This extra Y chromosome does come with similar impairment as Klinefelter (XXY). Citing a study from Pediatrics researchers discovered that half of the group with XYY genetics required additional Autism evaluation. Another article, cited by SFARI, found in the Archives of Disease in Childhood, was conducted to rate language and communication problems. Of their test group, 19% of the XYY genes were diagnosed with ASD, compared to 11% of the XXY group. These two studies have led SFARI to conclude that an extra Y copy of genes significantly boosts the risk of Autism in an individual. 


SFARI takes us to Chromosome 16. This chromosome, by either deletion or duplication, has been linked to one percent of ASD population. This chromosome is found on both the X and Y genes. Interestingly a variant of Chromosome 16 can be linked to other conditions, such as obesity. Two other chromosomes found on the Y chromosome are directly linked to Autism: NLGN4Y and USP9Y. These two have been linked to developmental delay disorders, seizures, and poor coordination, among others. 


Another player in the Autism field is the RORA gene. RORA is a hormone dependent gene that acts as a master regulator of other genes. In 2011 a study was published which showed that testosterone and estrogen have opposite effects on RORA. Livescience.com published an article about this study. According to this article testosterone lowers the ability of cells to turn on the RORA gene, while estrogen raises the cells ability. Professor Hu, who we will discuss in a moment, proposes that a high level of fetal testosterone puts the fetus at risk for developing Autism. Preliminary research does not show that low RORA causes Autism, but it is associated. RORA deficiency, on the other hand, may explain the effects seen in Autism. One of RORA's functions is to protect neurons against inflammation and stress. Inflammation has been a huge research theory in the Autism community lately. It is also responsible for helping to maintain the body's circadian rhythm or the sleep/wake cycle, which could help explain sleep disturbances in Autism. According to Dr. Hu individuals with Autism have lower RORA levels in their brain tissue, when compared to typical brain tissue. 

In 2013, ASD Research published an article about RORA and Autism. Dr. Hu a professor of biochemistry at George Washington University discovered that RORA regulates a large number of genes associated with Autism. RORA appears to play a role in the regulation of androgen and estrogen. An over production or under production of RORA seems to impact six other genes directly related to Autism, one of which is another NLGN gene. This may contribute to the male bias of the ASD spectrum. 

To read more about Chromosome 16 please read this article

To read more about the role of sex hormones in Autism, please read this article

I hope this helps to give you a basic understanding of the Y Chromosome and RORA gene. We are here to support you on your Autism journey. For more interesting topics please read our blog and follow us on Facebook.

Sunday, July 6, 2014

Understanding Genetics: X-Chromosome

As you may know the X chromosome plays a role in the sex of an individual. The X chromosome is contributed by the mother or father, depending on the sex of the child. A girl will have XX genetics and a boy will have XY genetics. My family has a history of Autism that is newly discovered. My son, Aiden, is the first documented case and shortly after his diagnosis my little brother, Will, was diagnosed with Autism. Both are high functioning. I do not have Autism, my daughter, Haley, is showing no signs of Autism and there is no history of Autism in my husband's family. I think Autism is linked to the female side of my family, me, my mother, my maternal grandmother, etc all carry the Autism gene. So what are the real numbers? How likely is it that the X chromosome contributes to Autism?

This color coded picture flow chart will help you understand how the X chromosome behaves across multiple generations. 


Let’s explore Autism from the X chromosome. About published an article in 2007 citing a study from Newsday; the researchers discovered that mother's who carry the Autism gene do not exhibit the traits of Autism themselves but have an approximate 50% chance of passing the trait to their children. The IAN network also has published a study referencing this information. New theories suggest that Autism is a "spontaneous mutation" of genetics, but IAN cites the strong family history in some individual families. They further suggest that men can be carriers of Autism, but if men carry the genes they are more likely to exhibit the signs of Autism than women. IAN states if either parent carries the autism-causing mutation than their children will have a 50/50 chance of inheriting that mutation. A girl, who does not show signs of Autism, may still carry the mutation and has a 50% chance of passing it onto her children. Her daughter will be far less likely to show signs of Autism and so on. 

This SFARI article references a 2011 study originally published in Molecular Autism. The researchers have located a gene on the X chromosome named TBL1X. Researchers functioned under the theory that Autism is related to the X chromosome because the disorder is approximately four times more common in boys than girls. Since boys only inherit one X chromosome several independent studies have investigated mutations on the X chromosome in relation to Autism. This study included approximately 5,856 individuals from 1,456 families with one or more children with Autism. They found a variant linked to the TBL1X gene, but only in males with Autism. 

Also in 2011, at the 12th International Congress of Human Genetics, research was presented that shows deletion of a part of TMLHE gene on the X chromosome found in a significant statistical number of males with Autism. This is something to be excited about since researchers believe that Autism associated with a lack of TMLHE can be prevented or partially reversible with proper dietary supplementation. It is important to understand that TMLHE deficiency is not a common cause of Autism, researchers determined. TMLHE deletion can be found in typically developing males at a rate of 1 in every 350, but the frequency of this deletion was approximately 3 times higher in Autistic males. In mothers also diagnosed with Autism this deletion was found in 6 out of 7 autistic siblings had this deletion. This is a very important and significant finding. Researchers conclude that as many as 1 in approximately 150 individuals with Autism have the TMLHE deletion. 

What about twin studies? In 2012 the University of Florida released information on Genetics and Autism; they estimate that in 80-85% of Autistic cases have an unknown or multifactorial cause. They also estimate that 3% are cause by a single inherited gene and approximately 5% are due to chromosome anomalies. They do address the genetic link to Autism and cite proof through twin studies. In identical twins the likelihood of both having Autism is as high as 90%. They further investigate the high recurrence of Autism in relatives close to the Autistic individuals. For instance parents or siblings with Autism will determine a risk of approximately 3-6% to a sibling or child. U of F also agrees that the excess of male prevalence in Autism suggests an X-chromosome contribution. 

There are three medical conditions with strong ties to Autism which also have strong impacts to the X-chromosome: Turner syndrome, Klinefelter syndrome, and Fragile X syndrome. 

Turner Syndrome: This disorder is a chromosomal condition that affects females. Turner syndrome is related to the X-chromosome and is the result of one X missing. So a female child with Turner's will have a X genetic footprint instead of an XX genetics. In some cases the missing X will be partially missing or simply rearranged. Most cases of Turner's are not inherited. Turner syndrome shares a common phenotype with Autism. Individuals with Turner's have difficulty recognizing fear on the faces of others. Autistic individuals appear to have difficulty in identifying facial expressions. Doctors at the National Alliance for Autism Research (NAAR) are currently conducting further research into this based on the information found by the Brain Science Unit at the Institute of Children Health in London. Doctors there have discovered a region on the X-chromosome that is related to facial recognition phenotype. By investigating this one trait of Turner's researchers hopes to identify why and relate that to Autism. Turner syndrome occurs in approximately 1 in 2,500 female births. 


Klienfelter Syndrome: This is also a chromosomal condition that affects males. People typically have two sex chromosomes, either XX (girls) or XY (boys), those with Klienfelter have XXY sex chromosomes (there is a variant: XYY). There is an extra X copy present which interfere with testosterone production along with intellectual disability and other physiological impacts. Behavior problems in those suffering from Klienfelter have been associated with Autism. According to Opening Autism approximately one in 10 diagnosed with Klienfelter's is also diagnosed with Autism. This is also a random occurrence with no chromosomal changes. Klienfelter's affects approximately 1 in 660 men. 


Fragile X Syndrome: This genetic condition can cause a range of problems from behavioral to cognitive impairment. Males are most severely affected by this disorder, but it can also impact females. Fragile X is inherited through mutated genes on the X chromosome. Approximately 1 in 4,000 males and 1 in 8,000 females are affected by Fragile X Syndrome. Approximately 15-33% of those with Fragile X also have Autism, according to the National Fragile X Foundation, making up approximately 2-6% of the Autism community. When an individual with Fragile X is also diagnosed with Autism, the Autism is also caused by the mutation in the Fragile X gene. Here is an interesting video on Fragile X.


It is important to understand that everyone with Autism does not have a serious medical condition such as Turner's, Klinefelter's or Fragile X, and not everyone with these conditions has Autism. It is interesting to correlate the impact Autism has on the X chromosome, which also influences these disorders. To read more about the X chromosome and Autism I suggest you read this article from Social Cognitive and Affective Neuroscience

I hope this helps you understand the impact of the X chromosome in Autism and its potential contribution to your case. With understanding and education we can push forward. 

We, at Aiden's Heroes, are always here to support you on your Autism journey.

Thursday, July 3, 2014

Understanding Genetics: Intro to Chromosomes

Understanding the genetics of Autism could be the key to resolving the issues within. I want to explore the different Chromosomes associated with Autism, but it has occurred to me that I need to refresh myself in the basic biology. So I decided to break this huge issue into parts, to make it more understandable for everyone.

Genes are the traits passed down to children by their parents. Genes determine hair color, eye color, and can even impact the development of some disorders. In total a human can have approximately 20,000-25,000 different genes, all these in each cell of the human body. All the genes throughout the whole of your body form your genome. You may hear reference to geneticists or genetics. Genetics is the study of genes and geneticists are the scientists that study genes.

Genes are made up of patterns of DNA. DNA is made using only four chemical compounds. The DNA chemicals link together forming a tight, twisting ladder known as a double helix. This whole ladder creates a strand, or chromosome.


So what is a chromosome? A chromosome is a spaghetti like structure that carries all the information necessary for cells to create a complete organism. You, for instance, are an organism. Chromosome's are completely made up of genes. Chromosome's live in the nucleus of a cell and can be found in every cell of your body. I have always thought of the cell's nucleus as the brain of the cell. Chromosome's are usually found in pairs, there are approximately 46 chromosome strands (23 pairs) in the human cell. When a cell divides these strands repeat within each new cell.

                                          
                            Human Cell                                                                 Chromosomes

Chromosomes and DNA get all their work done via cell proteins. Genes are the instructions by which proteins are made via a special code. The body translates these codes to help make the different kinds of amino acids in our bodies.

Which chromosomes effect Autism? So far I have found research on chromosome X, 2, 7, 15, 16, and 17. I'm sure I will find others as we dive further into this area of study. Please keep in mind I am not a doctor or geneticist. I am simply curious and this is my understanding of chromosomes.

For more in depth reading on chromosomes please see this article. Feel free to visit us on Facebook.

Wednesday, July 2, 2014

Autism and Autoimmune Disease

I recently met another mother, via Facebook, who has an autoimmune disorder and she has an Autistic son. I became curious, since I too have an autoimmune disorder and an Autistic child. I began researching a possible link between autoimmune disorders and Autism. What I found was incredibly interesting.

Medicine Net defines autoimmune disease as an "illness that occurs when the body tissues are attacked by its own immune system". Autoimmune disease is more frequent in women than men and this maybe linked to the role estrogen plays in the immune system. According to Women's Health approximately 23.5 million American's suffer from some type of autoimmune disease. Some examples of autoimmune diseases are lupus, thyroiditis, rheumatoid arthritis, type 1 diabetes, pulmonary fibrosis, etc. I have personally have psoriatic arthritis.

In 2013 a study of approximately 2,700 mothers and children was published in Molecular Psychiatry. It found that approximately one in ten women, who have a child with Autism, have immune molecules in their bloodstream that react with brain proteins. In animal studies, these researchers have found that prenatal exposure to specific types of immune molecules, antibodies, strongly contributes to altered social behavior. Antibodies help the immune system recognize and fight bacteria and viruses. Researchers believe these antibodies do not harm the mother's brain because she produces them and the brain filters most of these antibodies out. A fetal brain may not be able to filter these antibodies out effectively, thus, possibly causing damage in the form of Autism. This is likely to be evidence to support what scientists have long suspected, that women who have autoimmune disease are more likely to have children with Autism.

The brain filters antibodies through the blood brain barrier (BBB). This semi-permeable layer around the blood vessels in the skull and into the brain only allows certain cells into the brain. The BBB functions to protect the brain from "foreign substances", protects the brain from hormones and neurotransmitters and maintenance of a consistent brain environment. To learn more about the BBB please refer to Neuroscience For Kids or ABC Science.

So could it be possible that a portion of the Autism community is suffering from an inflammatory disease? The New York Times breached that very topic in their August 2012 article: An Immune Disorder at the Root of Autism. This article estimates that approximately one-third of the Autism community is suffering from an inflammation of the brain, stating that the immune system in an Autistic individual fails to turn off the fighting response antibodies regularly. They specifically cite a research study out of Denmark, stating that infection of the mother, with autoimmune disease, during pregnancy greatly increases the chances of Autism in their baby. The New York Times article estimates that the mother's diagnosis of RA increases their babies risk of ASD by approximately 80% and her diagnosis of celiac disease will increase the risk of ASD by 350%.

The 2009 study, published in Pediatrics, and sited by New York Times was conducted in Denmark. The researchers studied children born in Denmark from 1993-2004, which amounted to approximately 680,000 individuals. They then specifically focused on those children diagnosed with Autism Spectrum Disorder. The researchers then focused on the 26 different autoimmune disorders in the parents or unaffected siblings. What did they find? They found strong links between type 1 diabetes and ASD, as well as RA in mothers and ASD. They also found the first association between ASD and untreated celiac disease in mothers. This study specifically found that mothers played a significant role in the history of autoimmune disease and Autism, more than fathers. This leads researchers to the hypothesis that ASD risk is increased in the children of mothers with autoimmune disorder due to the conditions of the fetal environment.

This research is ongoing, but it is clear there are strong links to Autism and autoimmune disorders. This is in no way insinuating that autoimmune disorders are the only cause of Autism, but in some cases it could be. I think this link is very interesting and is something to be considered and discussed between women who wish to have children, also suffering from autoimmune disorder, and their treating physicians. I, in no way, am insinuating that these women should not have children. Children are an absolute blessing that should be enjoyed by everyone willing to undergo that path. What I am saying is this group of women should be educated in all the risk factors associated with their disease and pregnancy, to include the possibility of Autism.

If I had known my autoimmune disorder could contribute to Autism, would I still have carried a pregnancy? Absolutely. At the time of my pregnancy with Aiden and even with my daughter, Haley, I did not know I had psoriatic arthritis, but I had psoriasis for years. I, personally, from the time I was a little girl felt the strong desire to be a mother. I would have appreciated knowing the risk factors my psoriasis could have played on my child.

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