By Lisa Jo Rudy, About.com Guide April 12, 2011
Yes, the grammatical error was intentional!
Autism Awareness Month is a great time to get out the word about issues in autism. One of the toughest for everyone, including people on the spectrum, parents, teachers, therapists and doctors, is the incredible disparity among people with autism. How do you make the world aware of a single disorder that can present itself so very differently in different individuals? How do you create policies, undertake research or provide services for a group of people who have radically different needs? How do you plan a school program, provide therapies, or even access support when your situation is practically unique?
Of course the answer is - there is no one "autism," and that issue lies at the heart of many of the problems experienced by members of the disparate group that is sometimes called the "autism community."
Some of the biggest differences we face include -
* Differences in physical symptoms. Some people with autism also have serious physical problems including (but not limited to) sensory dysfunctions, seizures, gastrointestinal problems, sleep issues and food allergies.
* Differences in functional level. One person with autism is brilliant, intense, extremely anxious and often depressed. Another is non-verbal and physically aggressive. A third is low-key, affectionate, verbal, but lacking in social and communication skills. Which of these people is most functional? The answer isn't always obvious. What is obvious is that these people can't do the same things, don't need the same supports, and have very little in common as individuals.
* Differences in onset of the disorder. Particularly for parents of children with autism, differences in personal experience can create huge rifts. While one parent saw her child "descend" into autism almost overnight, another sees that her son, who has always been different, is also an awful lot like Uncle Bill - the brilliant but quirky engineer. Differences like these are causing huge battles over questions like "what causes autism?," "can autism be prevented?" and "is autism a difference or a disability?"
So what are the different types of autism? How different are they from one another? Unfortunately, even the official categories of autism (there are five) don't make clear distinctions. And those categories will likely be reduced to just three when new guidelines for diagnosis are put in place in 2013. Here are some definitions, though, that may help families better understand "the difference between autism."
Types of Autism
What Are Pervasive Developmental Disorders?
"Pervasive Developmental Disorder" is a formal term that means exactly the same thing as the less formal "autism spectrum disorder." As with the autism spectrum, the group of disorders described as pervasive developmental disorders includes autistic disorder, pervasive developmental disorder not otherwise specified (PDD-NOS), Asperger syndrome, Childhood Disintegrative Disorder and Rett Syndrome.
What Is Asperger Syndrome?
Often called "the little professor" or "geek" syndrome, Asperger syndrome describes individuals at the highest-functioning end of the autism spectrum. Unlike other autism spectrum disorders, Asperger syndrome is often diagnosed in teens and adults. People with Asperger syndrome generally develop spoken language in the same way as typically developing children, but have issues with social communication that become more pronounced as they get older. Because people with Asperger syndrome are often very intelligent - but "quirky" - the disorder is sometimes nicknamed "geek syndrome" or "little professor syndrome."
What Is Mild Autism?
The term "mild autism" is not an official diagnosis. It's simply a more descriptive term than "Asperger syndrome" or "autism." Generally speaking, when people use the term mild autism they are referring to individuals whose symptoms fit an autism spectrum diagnosis, but who has strong verbal skills and few behavioral issues. Those individuals may, however, have significant problems with social communication. They may also have problems coping with too much sensory input (loud noise, bright lights, etc.).
What Is High Functioning Autism?
Like "mild" autism, high functioning autism (sometimes shortened to HFA) is a made-up term that's become more and more commonly used. HFA is a tricky term, because it can be hard to distinguish a person with HFA from a person with Asperger syndrome. The official distinction is that people with HFA had or have speech delays, while people with Asperger Syndrome have normal speech development. But there may also be very real differences in terms of social awareness, personality characteristics, and other traits. The jury is still debating the fine distinctions.
What Is PDD-NOS?
"Pervasive Developmental Disorder Not Otherwise Specified" is a mouthful of words that are often applied to people on the autism spectrum. It describes individuals who don't fully fit the criteria for other specific diagnoses, but are nevertheless autistic. Unfortunately, there is no easy way to define the symptoms of PDD-NOS, which may range from very mild to very severe. As a result, the term is rarely used outside of practioners' offices. Most parents, therapists and teachers prefer to use more descriptive (though less official) terms to describe their children, students and patients with PDD-NOS.
What Is Severe Autism (Autistic Disorder)?
Severe autism is officially termed autistic disorder. It goes by many other names, though, including profound autism, low functioning autism, or classic autism. People with autistic disorder are often non-verbal and intellectually disabled, and may have very challenging behaviors.
What Is Rett Syndrome?
Rett syndrome is a genetic disorder that affects only girls. It is the only one of the autism spectrum disorders that can be diagnosed medically (so far). Girls with Rett syndrome develop severe symptoms including the hallmark social communication challenges of autism. In addition, Rett syndrome can profoundly impair girls' ability to use their hands usefully.
Source: About.com
Friday, April 22, 2011
Monday, April 4, 2011
FAQ about the IGF-1 Rett Syndrome Trial
"Treatment of Rett Syndrome with IGF-1"
PI: Omar Khwaja MD, PhD
Frequently Asked Questions (FAQ)
Download a PDF version of these FAQ
Q: Who is eligible for this clinical trial?
A: Eligible participants will be girls between the ages of 2 and 12 years, have a positive MECP2 genetic test and reside in the United States for the duration of the study.
Q: My child has a mutation in CDKL5, can we still participate?
A: No; all the work that has contributed to the development of this study has been conducted in mice with mutations in MECP2. Therefore, we do not know what the effects will be on children with CDKL5 mutations and at this time we are not enrolling children with this condition.
Q: What is the difference between Phase 1 and Phase 2?
A: Phase 1: A total of 10 girls will be enrolled in Phase 1. The objective of Phase 1 is to determine the tolerability of IGF-1 in the Rett Syndrome population. The visit schedule for Phase 1 includes three 24-hour inpatient stays and three outpatient visits (lasting approximately 3 hours each). At the end of the fourth week, participants will come to the hospital for a day-long visit lasting approximately 8 hours. Subjects that choose to participate in Phase 1 will automatically be enrolled in Phase 2, where they will receive an additional 20 weeks of treatment with IGF-1.
Phase 2: Phase 2 is a placebo controlled study lasting a total of 50 weeks. 30 girls will be enrolled in this phase. Participants will receive treatment (either IGF-1 or placebo) for 20-weeks, followed by 20 weeks of the alternate treatment (for example, if a subject received placebo for the first 20 weeks, she will be treated with IGF-1 for the following 20 weeks). There is a 6-week break between the two 20-week increments, during which participants will receive no treatment. In Phase 2, parents are required to bring their child to Children's Hospital, Boston every 4 weeks throughout the duration of the study.
Q: How will children be selected for participation?
A: The complete "inclusion criteria" is listed in the consent forms which have been sent to families interested in enrolling their children in this study (Note: if you have not received these documents, please e-mail rettresearch@childrens.harvard.edu and we will forward these to you). If the number of children that meet criteria exceeds 40; the potential participants will be randomized and chosen by a lottery. We will notify parents if their child has been selected to confirm that they still wish to enroll.
Q: When will the children be selected?
A: Children will be enrolled steadily over the first year of the study.
Phase 1: Enrollment for this phase is currently closed. For those who have sent in applications for Phase 1, we will schedule screening visits in March 2011 and begin treating participants in April.
Phase 2: Enrollment for this phase is currently open. We anticipate starting screening for this phase in August 2011.
Q: How do I apply for participation in this study?
A: Please send an email to rettresearch@childrens.harvard.edu and we will send you the necessary information and forms for enrollment.
Q: Once selections are made, will a more defined schedule of visits be provided?
A: Yes; at enrollment you will select a schedule schema. Once the first visit has occurred, this schedule is "set in stone" and cannot be altered under any circumstances.
Q: How soon after the initial screening/visits will the trial begin?
A: This will depend on you and your family's schedule. You may select when you would like the visits to begin.
Q: Can people outside of the Northeast enroll in Phase 1?
A: While Phase 1 is open to anyone, those who choose to enroll will most likely reside in the New England area as participants are required to visit the hospital twice a week for safety monitoring.
Q: If we choose not to participate in Phase 1, will this reduce our daughter's chance of being chosen for Phase 2?
A: No; participation in Phase 1 will in no way affect her eligibility for Phase 2.
Q: If I do not get selected for Phase 1, do I have to apply again for Phase 2?
A: No, the girls that are not selected for Phase 1 will automatically roll-over for enrollment in Phase 2.
Q: Can I go to my local Rett syndrome clinic for the evaluations?
A: No; the only site approved for clinical evaluations is Children's Hospital Boston.
Q: I tried to sign the consent forms, but they say "Not Valid"; now what?
A: These consent forms are intended for your review only. The official consent form will be signed in-person after your daughter has been selected and you have met with the research team to confirm her eligibility.
Q: Is there a hotel close to the hospital?
A: Yes, the closest hotel, the Inn at Longwood Medical, is next door to the hospital.
Q: Are there any discounted rates on airfare or hotel stay if you are traveling with a special needs child that is receiving treatment in a hospital setting such as this trial?
A: For airfare, check out Miracle Flights for Kids or Angel Flight. For families that cannot afford a hotel, there are a handful of rooms resourced within the hospital. However, these rooms are only available on a first-come, first-served basis and cannot be reserved well in advance. Unfortunately, we are not able to compensate families for lodging or travel.
For further information about this study, please contact:
Phone: 617-355-5230
Fax: 617-730-4669
Email: rettresearch@childrens.harvard.edu
Source: Children's Hospital Boston
PI: Omar Khwaja MD, PhD
Frequently Asked Questions (FAQ)
Download a PDF version of these FAQ
Q: Who is eligible for this clinical trial?
A: Eligible participants will be girls between the ages of 2 and 12 years, have a positive MECP2 genetic test and reside in the United States for the duration of the study.
Q: My child has a mutation in CDKL5, can we still participate?
A: No; all the work that has contributed to the development of this study has been conducted in mice with mutations in MECP2. Therefore, we do not know what the effects will be on children with CDKL5 mutations and at this time we are not enrolling children with this condition.
Q: What is the difference between Phase 1 and Phase 2?
A: Phase 1: A total of 10 girls will be enrolled in Phase 1. The objective of Phase 1 is to determine the tolerability of IGF-1 in the Rett Syndrome population. The visit schedule for Phase 1 includes three 24-hour inpatient stays and three outpatient visits (lasting approximately 3 hours each). At the end of the fourth week, participants will come to the hospital for a day-long visit lasting approximately 8 hours. Subjects that choose to participate in Phase 1 will automatically be enrolled in Phase 2, where they will receive an additional 20 weeks of treatment with IGF-1.
Phase 2: Phase 2 is a placebo controlled study lasting a total of 50 weeks. 30 girls will be enrolled in this phase. Participants will receive treatment (either IGF-1 or placebo) for 20-weeks, followed by 20 weeks of the alternate treatment (for example, if a subject received placebo for the first 20 weeks, she will be treated with IGF-1 for the following 20 weeks). There is a 6-week break between the two 20-week increments, during which participants will receive no treatment. In Phase 2, parents are required to bring their child to Children's Hospital, Boston every 4 weeks throughout the duration of the study.
Q: How will children be selected for participation?
A: The complete "inclusion criteria" is listed in the consent forms which have been sent to families interested in enrolling their children in this study (Note: if you have not received these documents, please e-mail rettresearch@childrens.harvard.edu and we will forward these to you). If the number of children that meet criteria exceeds 40; the potential participants will be randomized and chosen by a lottery. We will notify parents if their child has been selected to confirm that they still wish to enroll.
Q: When will the children be selected?
A: Children will be enrolled steadily over the first year of the study.
Phase 1: Enrollment for this phase is currently closed. For those who have sent in applications for Phase 1, we will schedule screening visits in March 2011 and begin treating participants in April.
Phase 2: Enrollment for this phase is currently open. We anticipate starting screening for this phase in August 2011.
Q: How do I apply for participation in this study?
A: Please send an email to rettresearch@childrens.harvard.edu and we will send you the necessary information and forms for enrollment.
Q: Once selections are made, will a more defined schedule of visits be provided?
A: Yes; at enrollment you will select a schedule schema. Once the first visit has occurred, this schedule is "set in stone" and cannot be altered under any circumstances.
Q: How soon after the initial screening/visits will the trial begin?
A: This will depend on you and your family's schedule. You may select when you would like the visits to begin.
Q: Can people outside of the Northeast enroll in Phase 1?
A: While Phase 1 is open to anyone, those who choose to enroll will most likely reside in the New England area as participants are required to visit the hospital twice a week for safety monitoring.
Q: If we choose not to participate in Phase 1, will this reduce our daughter's chance of being chosen for Phase 2?
A: No; participation in Phase 1 will in no way affect her eligibility for Phase 2.
Q: If I do not get selected for Phase 1, do I have to apply again for Phase 2?
A: No, the girls that are not selected for Phase 1 will automatically roll-over for enrollment in Phase 2.
Q: Can I go to my local Rett syndrome clinic for the evaluations?
A: No; the only site approved for clinical evaluations is Children's Hospital Boston.
Q: I tried to sign the consent forms, but they say "Not Valid"; now what?
A: These consent forms are intended for your review only. The official consent form will be signed in-person after your daughter has been selected and you have met with the research team to confirm her eligibility.
Q: Is there a hotel close to the hospital?
A: Yes, the closest hotel, the Inn at Longwood Medical, is next door to the hospital.
Q: Are there any discounted rates on airfare or hotel stay if you are traveling with a special needs child that is receiving treatment in a hospital setting such as this trial?
A: For airfare, check out Miracle Flights for Kids or Angel Flight. For families that cannot afford a hotel, there are a handful of rooms resourced within the hospital. However, these rooms are only available on a first-come, first-served basis and cannot be reserved well in advance. Unfortunately, we are not able to compensate families for lodging or travel.
For further information about this study, please contact:
Phone: 617-355-5230
Fax: 617-730-4669
Email: rettresearch@childrens.harvard.edu
Source: Children's Hospital Boston
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