Autism and Siblings

The Autism Society has a great page on their website talking about different aspects of having a sibling with autism. As the older sister of a non-verbal, autistic boy, I recommend that you read this if you are a sibling of a child with autism or you have a child with an autistic sibling.

Below is a quote from the page. Click the following link to read the full article: http://www.autism-society.org/living-with-autism/family-issues/siblings/.

Raising a child with autism places some extraordinary demands on parents as individuals and on the family as a whole. Prime among these demands is the lack of enough hours in the day to do all one wishes. Specifically, the time involved in meeting the needs of a family member with autism may leave parents with little time for their other children.

Many parents feel that even as they do all they can for their child with autism, they are always struggling with how best to respond to the needs of the family as a whole. They say that although their own life as an individual may be put “on hold” and a couple may share an understanding of the need to make sacrifices on behalf of their child with autism, few parents are willing to make that same demand of other children in the family. As a result, there is a continual tension between the needs of the child with autism and those of the other children.

This section offers suggestions to parents about ways to help the other children in the family cope gracefully and effectively with the experience of having a brother or sister with autism. Research indicates that the majority of brothers and sisters of children with autism cope well with their experiences. That does not mean, however, that they do not encounter special challenges in learning how to deal with a sibling who has autism or a related disorder.

There are special demands on these siblings, and learning to manage these demands will make their childhood easier and will teach them skills that will make them more effective and resilient adults. The most important teachers of these coping skills are a child’s mother and father. The gifts you give to your youngsters in childhood will serve them immediately and in all the years ahead. Parents: Click here for important information and practical suggestions for helping and supporting siblings.

 

New Drug for Rett Syndrome has “Promising Results”

According to the Massachusetts Institute of Technology, a new drug for the treatment of Rett Syndrome has “promising results.”

Rett syndrome, a rare genetic disorder that causes mental retardation, autism, and physical deformities, has no cure. However, a small clinical trial has found that a growth factor known as IGF1 can help treat some symptoms of the disease.

Children who received the drug for four weeks showed improvements in mood and anxiety, as well as easier breathing, in a trial led by researchers at Boston Children’s Hospital. MIT scientists first identified IGF1 as a possible treatment for Rett syndrome in 2009.

“This trial shows that IGF1 is safe in the cohort of 12 kids, and at least on certain measures, it provides some effectiveness,” says Mriganka Sur, the Paul E. and Lilah Newton Professor of Neuroscience at MIT and an author of the paper, which appeared recently in the Proceedings of the National Academy of Sciences.

In two other PNAS papers appearing today, Sur’s lab reports some of the molecular detail behind the mechanism of IGF1 action. His team also found that in mice, another drug, clenbuterol, appears to enhance the effectiveness of IGF1.

Unraveling disease mechanism

Rett syndrome affects about one in 10,000 girls. The gene that causes the disease, MeCP2, is carried on the X chromosome, so the condition is usually fatal in boys because they don’t have a healthy X chromosome to counteract the effects of the mutated version.

Girls with Rett syndrome tend to have smaller brains, smaller neurons, and fewer synapses than usual. Common symptoms include handwringing, seizures, gastrointestinal disorders, and difficulty walking, speaking, and breathing. However, there is a great deal of variability among patients because in every body cell, only one copy of the X chromosome is active. If a majority of cells express the healthy version of the X chromosome, the symptoms are less severe.

The MeCP2 gene codes for a protein that modifies chromatin – the protein-DNA complex that forms within a cell’s nucleus. These chromatin modifications influence the expression of genes by controlling access to DNA. MeCP2 also modifies microRNAs, which are very short strands of RNA that help regulate gene expression.

Four years ago, researchers in Sur’s lab found that they could reverse many of the symptoms of Rett syndrome in mice by treating them with a small fragment of insulin-like growth factor 1 (IGF1). In one of the recent PNAS papers, the researchers found that the full-length form of IGF1 also reverses symptoms in mice, which is significant because the U.S. Food and Drug Administration has already approved the full-length form to treat children whose growth is stunted.

Three years ago, initial results of that study provided the anchor for the recent clinical trial to go forward, Sur says. The study was led by former MIT postdoc Jorge Castro and graduate student Rodrigo Garcia.

In the other PNAS paper, Sur, lead author Nikolaos Mellios, an MIT postdoc, and colleagues discovered a complex pathway by which MeCP2 regulates IGF1 production. They found that without MeCP2, there is not enough brain-derived neurotropic factor (BDNF), which in turn reduces the amount of a microRNA processing factor called lin28a. Loss of lin28a leads to overproduction of a microRNA called let7f, and this abundance of let7f inhibits IGF1production.

To help confirm that this pathway is correct, the researchers treated mice lacking MeCP2 with clenbuterol, a drug that is known to stimulate BDNF production. After this treatment, the lin28a protein was produced at normal levels, restoring the rest of the pathway that leads to IGF1 production. The treatment also improved breathing, motor coordination, and the ability to recall social interactions.

Unlike most other studies of Rett syndrome treatment, both of these studies included female mice, which Sur says is important because all human patients are girls.

In the United States, clenbuterol is approved as a veterinary treatment for asthma, but not for human use; it is approved for human use in Europe. Sur says his team has no plans for clinical trials of clenbuterol. “We just put our findings out there. More research is needed before it can be used in humans, but the possibility certainly exists,” says Sur, who is director of the Simons Center for the Social Brain and a member of MIT’s Picower Institute for Learning and Memory.

Modest improvements

In the Phase I clinical trial of IGF1, the researchers gave the drug to 12 girls ranging in age from 2 to 10, all of whom had Rett syndrome. Each girl received the drug for four weeks, and there were no adverse side effects. Patients also experienced some improvements in mood and in respiratory function, which is particularly important because apnea and irregular breathing are common features of Rett syndrome, Sur says. Respiratory function also provides a way to measure the effects of the drug without having to rely on patient or family reports of neurological symptoms.

“An autonomic measure such as respiration is immune to a placebo effect and provides a strong biomarker for treatment of the disorder,” Sur says.

The trial was led by Walter Kaufmann, director of the Rett Syndrome Program at Boston Children’s Hospital, and performed by researchers there and at Harvard Medical School. A larger Phase II trial, with 30 children, is now underway.

If IGF1 proves successful in treating Rett syndrome, it might also find use against other disorders that involve some of the same molecular pathways, such as other forms of autism, Sur says.

“It’s a window into how you might treat a developmental disorder based on the molecular mechanisms. With any autism that affects these molecules, this drug may well end up being effective,” he says.

Sur’s lab is now working on making neurons from human skin cells taken from Rett syndrome patients so the researchers can study more closely what goes wrong in them. He also hopes to uncover the specific effects caused by mutations in different sections of the MeCP2 gene, which could lead to drugs that target individual effects more specifically, Sur says.

“There is no doubt that you should treat neuropsychiatric disorders in an intensely personal way,” he says. “I hope in my lifetime we will reach a place where some girls with Rett syndrome get IGF1 alone because they have a deficit in the part of MeCP2 that strongly regulates IGF1 through the microRNA mechanism, while some girls get much less IGF1 but receive something else that affects other parts of what MeCP2 does.”

Source:

Massachusetts Institute of Technology. “Promising results from clinical trial of Rett syndrome drug.” Medical News Today. MediLexicon, Intl., 25 Jun. 2014. Web. 27 Jun. 2014. <http://www.medicalnewstoday.com/releases/278689.php>

Christopher Duffley

You may or may not have heard of Christopher Duffley yet. He is a young boy who was “born prematurely at 26 wks, Christopher weighed only 1 lb 12 oz at birth and was rendered blind due to Retinopathy of Prematurity.” He is “a blind and Autistic singer and multi-instrumentalist” with a beautiful voice. You can check out his website at http://duffley.com/christopherduffley.html.

In the video below, you can watch Christopher sing at the New Hampshire Night of Worship celebration, in 2011, where he sings the song “Open the Eyes of My Heart.”

Google – Autism Speaks Partnership

Jeannie Bolstridge of Learning Socially sent me an e-mail with a link to this webpage: http://online.wsj.com/articles/genes-in-the-cloud-google-steps-into-autism-research-1402355492.

According to The Wall Street Journal:

Google and Autism Speaks will be announcing a partnership designed to house the sequencing of 10,000 genomes and other clinical data. The database, which would be the largest of its kind, would be open to anyone who wanted to access it. WSJ’s Shirley Wang and Autism Speaks co-founder Bob Wright join Lunch Break with Tanya Rivero.

Putting the information and analytical tools on servers like those provided by Google that can be accessed remotely, often known as cloud computing, allows for more seamless collaboration between researchers. It also provides access for researchers from institutions that don’t have powerful computer systems to conduct genomic studies on their own.

“Cloud computing is the great leveler,” says Mark DeLong, director of research computing at Duke University. Also, “it opens up new avenues for talent development.” Dr. DeLong isn’t involved in the partnership.

More broadly, genomic research aims to figure out how diseases work, who may have or develop a certain condition and how to develop new treatments. Genomic research has already led to meaningful findings, including a significant one for heart disease researchers. The PCSK-9 gene is one example of a “gene-to-drug” discovery, some researchers say. In the mid-2000s, scientists discovered that a mutation in the gene reduced production of a particular protein that helps regulate cholesterol levels. People with the mutation also didn’t develop heart disease. Clinical trials of experimental drugs that inhibit PCSK-9 are now in late stages.

One of the biggest insights gleaned from genetic research in autism so far is that there isn’t just one form of autism, but many. Whole-genome sequencing, which allows scientists to look at every single letter—known as a base pair or nucleotide—in a person’s DNA should provide “increased resolution of understanding what autism is,” says Robert Ring, chief science officer at Autism Speaks.

His organization has sent teams of clinicians into people’s homes to collect samples. They have collected more than 10,000 over the last 15 years.

Google wants to use its cloud technology to help Autism Speaks and others in genomics get results “better, faster and cheaper,” says David Glazer, Google’s engineering director in charge of the genomics cloud effort. Dr. Glazer declined to disclose the amount Autism Speaks is paying for these services.

To establish such large genomic databases, researchers must overcome technological challenges. Storage is an issue: The digital representation of a genome takes up roughly 100 gigabytes of storage. Only about 10 whole genomes fit on a typical desktop computer. Some collections of genomic information are already so large that downloading them over the Internet would take too long to be useful, says Duke’s Dr. DeLong.

Placing the data on servers for any scientist to use is one way around this problem. Dr. DeLong looks for certain DNA sequences that researchers at Duke are using so the university can store it once. That way, 40 people don’t need copies that occupy so much space.

Accuracy of data can be a giant obstacle with such cloud databases, particularly if they are pieced together by data collected from different places. They must be labeled clearly, or scientists from other institutions could mistakenly interpret the data, which could lead to inaccurate results and findings that can’t be reproduced.

Security and confidentiality of the donors’ data are also concerns. Some networks require researchers to apply for access. Dr. Ring says AUT10K will be available to qualified researchers who agree to abide by a standard research agreement.

In addition, universities and researchers must figure out whether they want to share their data—which now is sometimes mandated by grant funders—and how to protect their data for their own patents and publications.

When the University of Pennsylvania’s Gerard Schellenberg needed 800 whole genomes from collaborators at the University of Southern California, USC bought physical hard drives and shipped them, recalls Dr. Schellenberg, a professor in pathology and laboratory medicine who is a lead investigator of the Alzheimer’s disease Sequencing Project.

With the Alzheimer’s project, a collaboration between five universities, scientists have sequenced 580 genomes of people with the progressive memory disease and are sifting through these millions of pieces of data. The institutions put their data up on Amazon’s cloud storage service so researchers at the different sites could run analyses, then removed the data because it was too expensive to store in the cloud. Downloading the results, which typically involve comparing DNA of people with a disease to those without it, cost the institutions about $200 per genome, Dr. Schellenberg says.

Technique to Help Adults with Autism Improve Their Job Interview Skills

The following quotes are are from the article Simulated Training Techniques Help Autistic Adults with Job Interviews on MedicalNewsToday.com. Click the link to read the full article.

Adults with an autism spectrum disorder, who may have trouble talking about themselves and interacting socially, don’t always make good impressions in job interviews and have low employment rates.

A new human simulation training program – based on software originally used to train FBI agents – helps adults with autism improve their job interview skills and confidence, reports a new Northwestern Medicine® study.

The new interactive program was designed specifically for adults with psychiatric disorders and was also evaluated for use by adults with autism spectrum disorder. This is the first intervention using human-based simulation that gives these adults repeated practice and feedback on their interviewing skills. The program is now available to the public.

“Adults with an autism spectrum disorder tend to have difficulties with social communication, which may interfere with them having a successful job interview,” said lead study author Matthew J. Smith, a research assistant professor of psychiatry and behavioral sciences at Northwestern University Feinberg School of Medicine. “Our program helps trainees learn to talk about their ability to work as a team member so they sound easy to work with. They also learn how to sound interested and enthusiastic about a potential job, as well as convey that they are a hard worker.”

The study was published in the Journal of Autism and Developmental Disorders.

The employment rate for people with autism is very low. In 2009, only 33 percent of young adults with autism had a job. Approximately 50,000 individuals with autism turn 18 each year.

 

Today Moms: “11 Things Never To Say To Parents Of A Child With Autism (And 11 You Should)”

On April 15, 2014, Karen Siff Exkorn added the post “11 things never to say to parents of a child with autism (and 11 you should)” to the Today Moms website. Below are quotes from the article.

1. Don’t say: “Is your child an artistic or musical genius? What special gifts does your child have?”

We’ve all seen “Rain Man” and know about the extraordinary artistic and musical gifts that some individuals on the autism spectrum possess. But the truth is that most on the spectrum do not have these gifts. In fact, only about 10 percent have savant qualities.

Do say: “How is your child doing?”

This is what you’d say to the parent of a typical child, right? It’s perfectly acceptable to say this to the parent of a child on the spectrum. They can share with you what’s going on in terms of their child’s treatment and/or educational experience.

2. Don’t say: “You’d never know by looking at her that she has autism! She looks so normal.”

While the speaker might view this as a compliment, most parents of a child on the spectrum would not take it as such. Additionally, in the world of autism, the world “normal” is usually replaced with “typical” or “neuro-typical.”

Do say: “Your daughter is adorable”

Or offer any other compliment that you would use with any typical child.

3. Don’t say: “God doesn’t give you what you can’t handle” or “Everything happens for the best.”

Please don’t use clichés. Unless you’re the parents of a child on the spectrum, you don’t really know just how much there is to handle. Statements like these seem to minimize a parent’s experience by implying that this situation is something that they should be able to handle. Also, while it’s tempting to try to put a positive spin on the diagnosis, most parents of newly diagnosed children don’t feel that the diagnosis is the “best.” Over time, parents come to a place of acceptance, and some even view the diagnosis as a gift or as a way to gain a different perspective on life. But don’t be the one to instruct them about coming to those terms.

Do say: “Is there anything I can do to help you out?” or“I’m here if you need to talk.”

You can offer practical solutions to help a parent handle the diagnosis or the ongoing tasks, like help with grocery shopping, babysitting or other daily responsibilities. Sometimes, parents just need to vent and it’s helpful to have a friend with whom to share their feelings.

4. Don’t say: “I know exactly what you’re going through. My cousin has a friend whose neighbor’s sister has a child with autism.”

It’s human nature to try to show empathy for the family affected by autism, but it’s not right to say that you know “exactly” what parents are going through if you don’t have a child with autism.

Do say: “I don’t know what you’re going through, but I’m willing to listen if you need to talk.”

By honestly acknowledging the gap in your knowledge and offering heartfelt help, you will be a much better support system for the parents of a child on the spectrum.

There are also wonderful resources and organizations that can help educate you about autism.

5. Don’t say: “Do you have other children and are they autistic, too?”

While research shows there is a higher than typical incidence of autism among younger siblings of children with autism, it’s still not appropriate to ask this question. Also, it’s more acceptable to refer to children on the spectrum as “children with autism” rather than “autistic children.” When a child has leukemia, we say the child has cancer, not that the child is cancerous. To many parents, saying a child is autistic defines them only by their autism.

Do say: “Do you have other children?”

Just as you would ask this of parents of a typical child, this is a perfectly acceptable question for a parent of a child on the spectrum

Click the following link to read the entire article: http://www.today.com/moms/11-things-never-say-parents-child-autism-11-you-should-2D79526244.

World Autism Awareness Day

“World Autism Awareness Day (WAAD), celebrated on April 2 annually, was adopted by the United Nations in 2007 to shine a bright light on autism as a growing global health crisis.  WAAD activities increase and develop world knowledge of the autism crisis and impart information regarding the importance of early diagnosis and early intervention. Additionally, WAAD celebrates the unique talents and skills of persons with autism and is a day when individuals with autism are warmly welcomed and embraced in community events around the globe. Autism is one of only three health issues to be recognized by the United Nations with its own day.”

Tonight, the Empire State Building will light the tower lights blue “in honor of Autism Speaks and World Autism Awareness Day.”

I have turned my Facebook profile picture blue for Autism Awareness Month! If you would like to as well, click the link: http://twibbon.com/support/light-it-up-blue-4.

Sources:

http://liub.autismspeaks.org/about?utm_source=%20liub.autismspeaks.org&utm_medium=text-link&utm_content=Learn%20More&utm_campaign=LIUB%20Frontpage

http://www.esbnyc.com/current_events_tower_lights.asp

http://twibbon.com/support/light-it-up-blue-4

Autism Awareness Month is Here!

Autism Society

Today is April 1, that means today is the first day of Autism Awareness Month!

“Every month, there are many Awareness Day topics and they each have a specific color ribbon to go with them. Well, the Autism Awareness Ribbon is covered with red, yellow, and blue puzzle pieces. “The puzzle pattern reflects the mystery and complexity of the autism spectrum. The different colors and shapes represent the diversity of the people and families living with the condition. The brightness of the ribbon signals hope — hope that through increased awareness of autism, and through early intervention and appropriate treatments, people with autism will lead fuller, more complete lives.”

Sources:

http://www.autism-society.org/get-involved/national-autism-awareness-month/