AANE News
Issue 12 - Spring 2003


Portraits of Inspiration: Bruce Carley

By Richard Allen

Bruce Carley shares the view of many that his story is inspirational, although he prefers not to see it overblown. Bruce has an absolute acceptance of himself, his talents and his interests. He is himself, a uniquely talented individual who frankly states his opposition to the notion that people should be labeled, compared or steered into any particular mode of behavior or lifestyle. He values accomplishment, individuality, and inspired endeavor. He is more interested in being given a hearing than he is in winning anyone’s approval or conforming to any particular expectation of society. Bruce makes no secret of his disdain for fashion, convention, disability labels, and narrow career paths. Bruce readily acceded to my request for an interview and chose the setting for our conversation, the Concord Public Library in the midst of its collection of 19th century portraits of the legendary transcendentalists of Concord. This setting, combined with Bruce’s sturdy, outdoors appearance and his long hair pulled back in a plait, bring Henry David Thoreau strongly to mind.

In spite of his oft-repeated reservations about being labeled or singled out as different, Bruce is eager to share his story. After getting some assurances about my mission and the purpose of the interview, Bruce began to tell his story. His early educational experiences he remembers as frustrating and stressful. He was a quick learner and recalls that teachers and other students were holding him back from pursuing the pace he sought for himself. He believes that their motives in doing so were jealousy of his superior learning gifts as well as the frustration of dealing with a student who “didn’t fit the mold.” In spite of the hurdles, Bruce did finish high school with a record sufficient to get him into Tufts University where he remembers being very unhappy, again feeling that he was constantly straining against the strictures of a community that is too stuck on conformity and does not recognize his unique qualities and his original thinking.

Transition from college to work was rocky and frustrating. Nothing emerged, even with the help of a career counselor who Bruce remembers as having let him down. Although lacking a career, Bruce vigorously pursued a number of interests and activities. While working, sometimes happily and sometimes unhappily, with a part time job in a local deli and food shop, Bruce connected with a volunteering opportunity in an elementary school working with a special needs teacher and giving individual help to a nine year old who has an Asperger’s Syndrome-like diagnosis. Their mentoring relationship continued for three years and Bruce continues to keep in touch with him more than ten years later. Bruce’s connection with this Special Education Teacher who interested in Asperger’s Syndrome led to his taking a passing interest in it. He once attended a relevant lecture by Temple Grandin.

Thinking about a possible career in education, Bruce enrolled in a masters program at Cambridge College. While not greatly enjoying Cambridge College, Bruce appreciated the lack of rigid structure and gained some value from a course or two dealing with philosophy and psychology. But his graduate school career culminated in a conflict with the Dean who delayed his graduation for reasons that Bruce calls arbitrary and egotistical. Bruce fought the ruling and won his degree but decided not to pursue a practicum and teacher certification.

Bruce has had an interest in nature since his early childhood. He made a contact that turned out to be a focus for his life at present. He was introduced to his town’s Conservation Director and earned a Certificate in the Native Plants Studies from the New England Wildflower Society. Bruce became a tour guide at Drumlin Farm, an Audubon educational program where he employed his educational qualifications and his interest in nature for about three years. At the same time, h purchased and began to raise a certain disease-resistant variety of American elm in quantity and to plant examples of it throughout the town under the supervision of the Conservation Director. All of this was done with no material help or guidance except that which Bruce sought out independently. Ever since that time he has been propagating and raising these elms in quantity and selling them to private residences and enthusiastic public organizations which have found him by means of the internet. His business, though not yet significantly profitable, has earned a reputation and Bruce has used a web site (www.elmpost.org) he created to disseminate information about native species and to cautiously promote his seedlings, cautiously, because he has no facility to keep up with any significant demand he perceives to be out there. A visit to the website will give further appreciation for Bruce’s talents and accomplishments. You can also learn there, more about his philosophy and values.

Clearly, Bruce is pleased with this accomplishment and it has allowed him to interact in the world is a way that does not require him to stand behind a cash register or interface with a supervisor. In spite of his initial reservations, Bruce offered me a compliment saying that I was a good listener and, therefore, probably a good teacher. By this he means, that good teachers interact by listening, not by offering platitudes, shallow discipline or by assuming an attitude of superiority over their students.


Saving the American Elm

by Bruce Carley

Excerpted by permission from <www.elmpost.org>

“I have posted this article to call attention to a special project which I have been doing since 1994 and which hopefully will be a source of inspiration for many. Ever since some new disease-resistant varieties of purely American elm were called to my attention, I have been hooked on raising these trees for distribution in my home town of Acton, Massachusetts, and it did not take me long to conceive of finding a way to have them planted on various conservation lands, where they will always be safe from indifferent landowners…

“I am pleased to inform everyone that you now have more than forty DED-tolerant American elms distributed throughout Acton in ten of its conservation lands, plus one municipal property (Meeting House Hill). A few of my young friends from the resource room in which I used to volunteer deserve credit for the planting of the particular trees that now stand dedicated to them. While this number of trees is a milestone worth celebrating, we should not lose sight of the fact that if we stop at this number, only this many American elms will be left in this community in the next few decades. That is one reason why my project remains ongoing in the form of sales to private residences, public departments, tree societies, and similar organizations. Hopefully this endeavor to inspire others will result in the planting of many more disease-tolerant American elm trees in other towns.”


Portraits of Inspiration: Michelle Knight

By Richard Allen

Michelle related her inspiring story to me in a Starbuck’s in Belmont. We meet here at her suggestion. Michelle is giving up her Saturday morning and driving in from her home in Acton to tell her story. This in itself seems to me remarkable for this shy, unpretentious, youthful-looking woman. However, Michelle is a goal setter, who sets her sights high and patiently works out her strategies. The proof of this statement is evident in Michelle’s social and educational achievements, and in her current pursuit of a career path.

Michelle appears poised; she has remarkable social skills and ability to maintain eye contact. Her story emerges as I prompt her for more details and try to understand the chronology of her struggle to figure out why she has had to work so hard all her life—in spite of her intellectual gifts, which were evident both to her and her family from an early age. Michelle’s ability was not so evident to her teachers. She began school in a town north of Boston in the late 1970s, long before Asperger’s Syndrome was commonly known about in schools. Although she had been reading since she was two, she was not able to demonstrate her skills to her teacher until Michelle shared with her a letter she has written to her grandfather. In spite of her mother’s claim that Michelle is precocious, the school refused to promote her to the next grade due to her “immaturity.” Michelle had trouble keeping to the lines on her papers, and was hopelessly uncoordinated at physical activities and games.

Michelle’s family moved to Belmont, where she entered a small elementary school. Her teacher soon referred Michelle to the Speech and Language Pathologist who recognized how much she was struggling. Mrs. O’Neill, whose sensitivity is legendary within the school, becomes Michelle’s coach, helper, scriptwriter and interpreter through the 5th grade. “Through talking situations out with someone, I became verbally prompted to observe social situations. After a time, I internalized this conversation and applied the strategies to new situations.” Michelle made a close friend who was a foreign student. They fit in with each other even though they didn’t fit in much in the larger world of the playground. Michelle recalls being an observer, trying to figure out what she should do to fit in better with the other kids. However, schoolwork was going well, and Michelle developed a plan to become an astronaut. Michelle is clear that this narrow focus of her effort helped her keep up her motivation and her efforts in the face of many obstacles.

Michelle was considered too bright and too academically successful to be eligible for special education services in middle school; she entered sixth grade without an IEP (Individualized Education Plan). Her new school recognized her intelligence—but had no idea how much of Michelle’s energy went into “figuring it all out.” She diligently memorized the information presented, but had persistent difficulty making connections and grasping concepts. Michelle felt stressed, but it is now that she first develops her most important strategy for adapting to the “normal” world. She approaches her teachers for help, tirelessly enlisting their support for her efforts to get organized and to master concepts.

In high school, Michelle continues to drive herself toward success in math and science. However, it is an English teacher who recognizes Michelle’s hidden brilliance and becomes her friend and mentor. Michelle remembers Mrs. McCormick, as she remembers Mrs. O’Neill, with vivid fondness. Many years later, Mrs. McCormick attended Michelle’s wedding.

Michelle won admission to Smith College, perhaps the most competitive choice for a woman interested in math and science. This was a remarkable achievement, but college proved to be the scene of renewed struggle. The expectations of her science and math professors at Smith are very high. By junior year, Michelle realized that science and math are not her academic strengths. She found that she could not master this challenging material by over-learning and rote memory. She had to come to terms with the demise of her long-cherished dreams of becoming a space scientist.

At this critical time, an acting class became a catalyst for change and self-discovery for Michelle: she recognized that she had long been an actor on the stage of life. This insight led her first to study psychology and eventually to pursue psychological testing to learn more about herself as a learner. She took this step against her parents’ wishes, for they both hoped to avoid labeling Michelle. They could not believe that their very bright daughter, who had won a place at Smith College, could have a learning disability. Nevertheless, Michelle did go for testing . She discovered that she has a non-verbal learning disability. This explanation of her strengths and weaknesses, while discouraging in part, also provided some relief. Now she could begin to let go of the idea that there was something wrong with her that was she could “fix” by making heroic efforts.

The time of transition from college to work presented more difficulties. Michelle had graduated from Smith as a psychology major, hoping to obtain a research job. She found, however, that psych labs wanted to hire self-initiating, highly organized people—and she did not fit the mold.

She did obtain jobs a lab assistant and as a bookseller, In hindsight, Michelle realizes that she wanted her supervisors to be teachers, people who would nurture and guide her. Unfortunately, the more she sought their help, the less satisfied they became with her performance. Disappointed, but at heart understanding the problem, Michelle began to work with a career counselor, through whom she met another key mentor in her life: Ellen, a teacher with an interest in Asperger’s Syndrome. Ellen helped Michelle gain further insight about her limitations and strengths. Based on her new self-understanding, Michelle applied to the graduate program in Information and Library Science at Simmons College. She was accepted, and successfully earned her MLS (Masters in Library Science) degree.

Although she has not yet attained her goal of full time professional work, Michelle sees her life as satisfying and happy. A very large part of her happiness is due to Michelle’s relationship with her husband, Scott. While at Simmons, motivated by a desire to practice her social skills, Michelle accepted an invitation to accompany a friend to a party. Her friend introduced her to Scott. “I started dating my husband, Scott, in 1998. We grew closer, married, and have a strong relationship. Scott is the most important person in my life and I don’t know what I would do without him. We enjoy our company together and Scott brings out the best in me. I try more new things when I am with him. For example, we went snow shoeing for the first time this winter. I find I really enjoy these enriching experiences. Also Scott has a good sense of humor about some of my quirks, and allows me some down time to veg-out from human contact.”

What makes their relationship work? “I find that the relationship works best when I am open to constructive criticism, even things I don’t want to hear, and encourage honesty. I make changes to my behaviors that benefit the relationship, like not forgetting my cell phone, and communicating better on how long I will be out. I am still working on these issues with Scott. I treat him with respect.”

Michelle’s emotional grounding is based on her ability to acknowledge setbacks, while still persevering in seeking out people who understand and accept her—along with her limitations—and who have an interest in helping her. Michelle’s helpers and mentors have recognized her intellectual strengths, and appreciated her strong drive to connect with other people, learn about herself, and work toward her goals.


Portraits of Inspiration: Sue Brooks

By Jill Goodman

When Sue Brooks’ eight-year old son TB was diagnosed with Asperger’s Syndrome she thought, “That can’t be right because it’s too good to be true.” Finally, she had a plausible explanation for his unusual behavior—a far less distressing explanation than the suggestion one professional made: that TB’s behavior might stem from past sexual abuse. Ever since TB was three, his parents knew something was amiss with their little hurricane, whose stress levels could be visibly measured by how far up his arms he pushed his shirtsleeves—or by how he’d pull his shirt over his head altogether. Sue often thought TB was a walking example of a person who was literally “beside himself.”

As a preschooler, TB was diagnosed with language differences and ADD, and it was obvious that he had sensory problems as well, but the AS diagnosis tied everything together. It explained, for instance, why seven-year old TB was just not ready to go on camping trips with the group of children he had played with since he was a toddler. Sue maintained her close friendships with the other kids’ mothers, but had the wisdom to accept that her son would not able to participate in those outings. It was just one example of how Sue helped TB cope with life by making sure he was not overwhelmed or, as she puts it, had “no clutter” in his days. Admirably, she was able to stay calm and stick with her approach to parenting even when one of her friends came right out and said, “Give me that kid for one month and I’ll straighten him out!”

Sue is fortunate to have a lot of loving support as well, some by the luck of her birth and some by design. Her sisters have been loving aunts to TB and are always there when he needs them. Sue also makes sure she surrounds herself with supportive people from outside the family. She has a group of strong women friends who have had their own share of adversity, and who are always there for each other.

Some of her support network also comes from unexpected places. When TB was young , and Sue and her husband interviewed tenants for their multifamily house, they let the applicants know that TB just might say hello to them every time he saw them—even if he saw them many times in one day. It was important to Sue that the tenants not get annoyed with TB, as preserving his self-esteem and minimizing negative feedback was of paramount importance to her. The family ended up becoming very good friends with their tenants, one of whom was a kind and understanding teacher.

When TB was in middle school, Sue gave birth to her second son, Brad, three months prematurely. Baby Brad weighed in at just one lb. 14 oz. and Sue became ill with toxemia and had to spend a month in the hospital. One of TB’s beloved aunts came to stay at their house and help their family through this trying time.

As every parent knows, middle school is a difficult time for all children, so these stressors could have been a lot worse for Brad without his aunt’s help. Also, Sue had made sure TB’s teachers were aware of how over stimulated he could become. TB and his teachers came up with some self-calming techniques TB could use to keep himself from becoming overwhelmed. Sue speaks fondly of TB’s sixth grade science teacher, who allowed TB to keep his desk in the hallway until he felt comfortable enough to move it back into the classroom. Sue also told his teachers that it was okay if her son needed to go to the bathroom many times a day, as this was one way he could remove himself from too much stimulation. In fact, she said it was okay if he had to spend the whole day in the bathroom!

Nevertheless, middle school was a bumpy time, especially with a new baby and having to spend a significant amount of time helping TB complete homework assignments. However, by the time he reached high school, he was totally independent with his homework. Two days before I interviewed Sue for this article, TB had just passed the MCAS!

TB told his Mom that everyone with Asperger’s learns to cope in his own way. No one can deny that because of his Asperger’s, TB carries the lion’s share of coping. His mother has helped him by minimizing anxiety-provoking situations. Luckily for TB, his mother is a natural at allying herself with people who can help, and has showed him how to do this for himself.

As well as being willing to accept help when he needs it, TB knows how it feels to be needed, too. TB met his best friend in a special-needs preschool. Besides just having a good time hanging out together, the two friends are also a source of strength and support for each other—and, as those of us with Asperger friends and family know, their strengths are considerable.

While coping with her own family’s complex demands, Sue also found the strength to offer a warm haven for many other families living with AS. For many years now she has run the AANE support group in Reading. This is a unique group, because older children attend at the same time as their parents, with the two groups meeting at opposite ends of a large room. Sue has also served up until recently on the AANE board of Directors. She has contributed greatly to the success of AANE as an organization, helping many families with personal support and resourcefulness, and her courageous example of successfully parenting a child with AS. AANE Executive Director Dania Jekel sees Sue Brooks as a wonderful role model for parents. “Sue is so open and up front about the fact that her son has Asperger’s. She communicates this level of comfort and acceptance to other parents and children, too. Her own son felt comfortable enough with himself to do a presentation to his classmates about his AS when he was in 8th grade. His article about this experience is included in AANE’s booklet on disclosure, with an introduction by Sue. Sue has contributed enormously to AANE’s culture of respect for parents. She is tremendously generous and caring towards other families. We are so grateful for all that she has contributed to AANE and the AS community over so many years.”


Some Useful Educational Interventions for Students with Asperger Syndrome

by Dania Jekel, MSW, AANE Executive Director

Based on what we hear from families, the majority of children with Asperger's Syndrome can succeed in school provided they receive sufficient, appropriate support. However, it is important that not only the teachers, aides, and specialists working directly with the child, but also everyone in the school and special education hierarchies is willing to take on the challenge of learning about a whole new kind of student—one for whom familiar educational techniques may not work at all. This requires a certain humility—and a lot of time and hard work.

Once the challenge is accepted, the whole team must work closely together to create an environment where the student can succeed. The team must also be proactive rather than reactive. That is, everyone must work together in advance to develop an educational plan that wil prevent crises from occurring—and then dependably carry out the plan in all its details. They must also be willing to learn from direct experience what does and does not work with this particular student, and refine the original plan accordingly. They must find ways to capitalize the student's strengths and to offset his/her weaker areas.

Below is a list of some interventions that have proven effective. You may want to think about getting some of these measures written into your child's Individualized Education Plan.

Basic Requirements:

  1. Training about AS, including appropriate educational supports, interventions, and modifications, for all educators involved with the student
  2. Effective and regular communication between school and home, and among all educators working with the student
  3. Parents must be regarded and treated as an integral part of the educational team

Continuum of options for placement:

  1. Inclusion in regular classroom with appropriate supports and modifications
  2. Integrated classroom setting where there are 5 or 6 children with special needs within a regular classroom setting
  3. Smaller, separate classroom for bright children with social or non-verbal learning needs (Inappropriate placements include classrooms for students with behavior problems or cognitive disabilities.)
  4. Placement into another school in the home community, a multi-district collaborative, or another community
  5. Out of district placement into a private 766 day school
  6. Out of district placement private 766 residential school

Note: Some families have found homeschooling a viable option.

Who may deliver the needed support, modifications, and interventions within a school setting:

  1. Regular classroom teacher with additional training in AS, or special educator
  2. Dedicated aide, teaching assistant, or paraprofessional (i.e. devoted just to this student); training desirable
  3. Classroom aide for two or more children
  4. Occupational Therapy to address sensory issues
  5. Tutor or educational specialist to address special academic needs related to subject content or learning skills
  6. Speech therapist for pragmatic speech, social skills, and communication intervention
  7. Inclusion facilitator or adjustment counselor for social and emotional issues

School Interventions that can be put in an IEP
(Individualized Education Plan)

To help with Social Skills

  1. Social skills groups (e.g. 3 x week for 20 minutes)
  2. Social stories (Carol Grey)
  3. Comic strip conversations
  4. Scripts
  5. Lunch buddies or other friendship group
  6. One on one speech therapy (pragmatic social language)
  7. Drama class/activities
  8. Structured social opportunities during recess
  9. Structured activity during lunch (e.g. help in library or office)
  10. Social “autopsies”
  11. School-wide or system-wide training in prevention of bullying and teasing
  12. Disclosure: teaching classmates about AS (elementary school)
  13. On-going teaching of unwritten school rules
  14. Buddy of the week (peer mentors)
  15. Social communication coaching during classroom time

To help with Academics

  1. Modification of length or focus of some assignments
  2. Tutoring
  3. Help taking notes (aide/peer recorder, computer, teacher-provided, etc.)
  4. Priming (previewing work)
  5. Structured and regular communication between parents and teachers about assignments, expectations, skills, progress, and problems
  6. Projects and papers related to student’s area of intense interest
  7. Assistance in gym
  8. Present subject matter using visual aids
  9. Present work and homework broken down into small steps

To help with lowering anxiety:

  1. Transition preparation
  2. Home base for beginning and end of school day
  3. Proactive intervention if child shows signs of stress
  4. Sensory breaks
  5. Flexible teachers who can tolerate different ways of doing things
  6. Classroom with routine
  7. Advance warning of changes in schedule
  8. Priming (preview of lesson content)
  9. Preparation for new things, places, students or teachers
  10. Training teacher in AS
  11. Assistance or alternative activity during less structured school time such as recess, lunch, gym, music, or art
  12. Modification, assistance, or preparation for projects done in groups
  13. Environmental manipulation of classroom to prevent sudden loud sounds, movement, distraction, lights
  14. Preferential seating away from distractions

To help with executive functions (organizational issues):

  1. Classroom aide can help student attend to the essential task, prioritize tasks, break assignments down into steps, understand teacher expectations, record homework, remember essential papers, etc.
  2. Graphic organizers can help students grasp concepts
  3. Provide two sets of text books, one in classrooms and one at home
  4. Communicate homework to parents
  5. Post assignments on a web page
  6. Homework buddy
  7. Provide a map of the school
  8. Post the student’s schedule in a few places (e.g. notebook, desk, fridge)

To better understand some of these recommendations, you might wish to consult the following books:


Genetic Factors in Autism Spectrum Disorders

by Beth Rosen Sheidley, MS, CGC, Genetic Counselor, and Susan E. Folstein, MD, Director
New England Medical Center Autism Genetics Research Group

Since 1977, when the first autism twin study demonstrated higher concordance rates of autism among identical twins than fraternal twins, the evidence for inherited factors in autism spectrum disorders has gained widespread recognition among researchers. Based on several decades of work, scientists are now focusing in on specific chromosomal regions that are thought to contain autism-related genes, and are beginning to test candidate genes. The ultimate goal of this research, which is being carried out by researchers around the world, is to identify genes related to autism spectrum disorders, with the expectation that this information may lead to a better understanding of the disorders, their diagnosis, and their treatment. Although most of the genetic research to date has focused primarily on individuals with autistic disorder, researchers expect there to be considerable overlap in some inherited factors common to all autism spectrum disorders, including autistic disorder, Asperger syndrome and PDD/NOS.

TWIN AND FAMILY STUDIES

In the first systematic and detailed autism twin study, the rate of concordance was compared between identical twins and fraternal twins. Concordance in this instance refers to the likelihood that if one twin has a diagnosis of autism, the second twin will also have a diagnosis of autism. Because identical twins share 100% of their genes, whereas fraternal twins share on average 50% of their genes, a higher concordance rate among identical twins is evidence for genetic influence. In the few twin studies carried out to date, the concordance rate for fraternal twins has been shown to be similar to the 5-8% recurrence rate observed among non-twin siblings. Concordance rates among identical twins are estimated to be approximately 60%, but have been reported to be as high as 95%. The fact that identical twins are not always concordant for autism indicates that there may be non-genetic factors that are important as well, but the high concordance rates are strong evidence for significant genetic influence. The results of family studies, which have shown increased rates of autism among siblings and close relatives, are also an indication of the role that inherited factors play in the development of autism. Although twin studies specifically focused on Asperger syndrome have not been carried out, it is apparent from family studies that Asperger syndrome occurs more frequently in siblings and other close relatives of individuals with Asperger syndrome, as well as siblings and close relatives of individuals with autism. Conversely, it also appears that autism occurs more frequently than would be expected among the close relatives of individuals with Asperger syndrome. Therefore the evidence from twin and family studies suggests that autism and Asperger syndrome cluster in the same families and are genetically related.

GENETIC SYNDROMES AND AUTISM SPECTRUM DISORDERS

Evidence for an underlying genetic basis also comes from the many instances in which individuals with autism have been diagnosed with known genetic syndromes caused by changes in single genes or by chromosomal abnormalities. It is estimated that 10-15% of individuals with autism have an underlying medical or genetic diagnosis, such as fragile X syndrome, tuberous sclerosis, neurofibromatosis type 1 (NF1) and chromosomal abnormalities. Researchers at Duke University recently reported that some individuals with autism have mutations in the MECP2 gene, which is the gene related to Rett syndrome. In conjunction with the evidence from twin and family studies, the fact that a significant percentage of individuals with autism have an identifiable genetic condition supports the idea that inherited factors may lead to autistic characteristics. Although most published studies of the overlap between genetic syndromes and autism involve autistic disorders specifically, some do include individuals with Asperger syndrome and PDD/NOS as well.

GENOME SCREENS

In the majority of individuals with autism, there is as of yet no identifiable genetic cause. Based on all the evidence so far, researchers believe that autism is due to “complex” inheritance. Disorders that are due to complex inheritance do not follow the same predicted patterns of inheritance seen in single gene dominant, recessive, or X-linked disorders. It is possible that changes or “mutations” in several different genes must occur in combination with certain environmental triggers, such as exposure to certain substances in utero. This type of inheritance is often referred to as multifactorial because many different factors, genetic and/or environmental, are involved. It is estimated that as many as 15 different genes may be related to the occurrence of autism. It is possible that these genes may each have a small effect, in which case multiple gene mutations would be necessary for a child to develop autism. It is also possible that there may be several genes of major effect, but that the specific genes involved differ from family to family.

In order to determine the specific genes that may be involved, scientists perform what are referred to as “genome screens.” They use maps of the chromosomes (similar to road maps) in order to look for genes. Just as gas stations or restaurants can be used as landmarks when locating a friend's house, scientists use “markers” to find a gene. Markers are known regions or “sequences” of DNA along the chromosomes that may differ slightly from person to person or among populations. These differences, or “polymorphisms”, serve as landmarks that can be tested in individuals. In performing a genome screen, researchers look at many different markers throughout the genome, trying to find markers that are consistently found in family members who have a particular disorder, but not in family members without the disorder. These markers are landmarks that identify which chromosome a gene is located on (similar to which street a house is on). Statistical methods can tell a scientist how close these markers are to a gene. Testing additional markers will narrow the search area of the gene (similar to determining which block a friend's house is on). Markers that are very close to a gene are said to be “linked,” because the marker and the gene are almost always inherited together. Once scientists find a set of markers that are linked to a gene, then they say that they have found linkage. It is important to remember that linkage does not mean that a gene has been identified, but rather that the gene being searched for is somewhere nearby. There have been several published genome screens to date, and additional unpublished screens. Chromosomal regions of interest identified thus far include 2p, 4p, 6q, 7q, 13q, 15q, 19p, and Xq. Additional studies are underway to confirm linkage in these regions, and to narrow down the areas further.

CANDIDATE GENES

Linkage results from genome screens tell us approximately where on a chromosome a gene is located. Researchers still need to determine the exact location of the gene (similar to finding a house on a particular street). One common method uses “candidate genes,” which are genes known through previous research to be localized to the region. A gene is called a candidate if its function relates in some way to the effect the disorder has on individuals who have the disorder. This laboratory technique is similar to knocking on the door of every house on a block until you find the one your friend lives in. Scientists test the candidate genes for mutations that might cause the disorder. If there are no mutations in the gene of a person who has the disorder, then that candidate gene could not have caused the disorder in that particular person. If all the candidate genes are tested and none are found to be responsible for the disorder, then the researcher studies genes whose functions are not yet known. Many genes may be tested until the correct gene is found. Then comes the long process of understanding how the gene works and why it causes the problems that it does. Recently a number of candidate genes have been under investigation. They include many genes that contribute to the development of the central nervous system.

COLLABORATING TO FIND GENES

Over the past decade many research groups around the world have worked independently to find genes related to autism spectrum disorders, but each group has been able to study only a small number of families. Recently, several of the groups joined together and obtained funding from the NIH to group all of the families together. By sharing data, and thus obtaining a much larger data set to work with, the researchers involved hope to speed the discovery of the genetic factors involved in autism.

A major focus of the work to identify genes now revolves around “subsetting” (grouping) families according to diagnosis and the presence of specific traits. For example, those families who have individuals with savant skills, obsessive compulsive tendencies, or spoken language delay may be considered in separate groups, the theory being that certain genetic factors involved may be related to those individual traits. Researchers have already identified a family with a severe speech and language disorder (not associated with autism) that is due to a single gene mutation. The family’s language problems are primarily related to the “structural” use of language, including grammar, syntax, and pronunciation of words, as opposed to language “pragmatics,” which refers to the social aspects of language, such as knowing when to take turns in a conversation. If it is the case that this and other structural language genes, along with other several other “pragmatic” language genes, are relevant to autism, and if there are genes specific to social aspects of development as well as repetitive/obsessive aspects of behavior (the other two areas affected in autism), then subsetting the families should make it easier to find the genes more quickly. The existence of genes that are related to traits, as opposed to specific diagnoses, would also explain why several different disorders often cluster in families. Researchers hypothesize that for autism to occur, an individual must inherit changes in genes that affect both social and structural language, social development and repetitive behaviors, whereas for Asperger syndrome inherited factors that impact structural language would not be involved.

Our hope is that over the next several years, with the funding from the NIH and a complementary effort just underway through the generosity of the National Alliance for Autism Research, researchers will identify the genes involved in autism spectrum disorders, and will begin to understand the biological mechanisms in a way that leads to better treatment. For updates on the latest research findings visit <www.exploringautism.org>, a website dedicated to keeping families informed about the genetics of autism.


Book Report:
The Blue Bottle Mystery: An Asperger's Adventure
by Kathy Hoopman

A report by Meghan Innis

This book is about a boy named Ben. Ben learns that he has Asperger’s Syndrome. The book is also about Ben’s friend named Andy. Andy helps Ben cope with his new disability. Ben’s family needs to understand his disability. They also need to educate themselves about Asperger’s Syndrome. Ben and Andy find a blue bottle in the school’s playground. Then a strange wisp of smoke keeps following them around. This book is great enjoyment to read! The book will keep you guessing ’til you reach the end! I recommend this book for people ages seven through to adult. People who should read this book are people who work with children with Asperger’s, families with Asperger’s, and relatives of Asperger’s people and friends of people with Asperger’s.


Book Report:
Asperger's Syndrome, the Universe, and Everything
by Kenneth Hall

A report by anonymous "Aspie", age 13

I started to read the book but became bored rather quickly. I think this was because Kenneth Hall’s Asperger’s Syndrome and his situation is different from mine in several aspects. For one thing, he is a 10-year-old boy and I am a 13-year-old girl, so we are at very different stages in our development and are dealing with different issues. For another, his Asperger’s Syndrome seems to be somewhat more severe than mine, at least in my opinion. Because of these differences between Kenneth Hall and myself, it was somewhat difficult for me to relate to his situation. However, it was still a bit interesting because Kenneth’s descriptions of his difficulties as an “aspie” brought back memories of the earlier part of my childhood, in which I had many more social difficulties than I do today. I think younger readers could be helped by this book, but people over the age of 11, 12 tops, would become a bit bored with it. This is a general statement; certainly there ma be older children out there who would enjoy the book.


Book Report:
Lisa and the Lacemaker: An Asperger's Adventure
by Kathy Hoopman

A report by Susannah E. Teich

I liked this book very much. People of all ages would like it. It is from the point of view of a kid with Asperger’s. Some words are advanced, so if someone wants to read it aloud to younger children, they should substitute the meanings for the words.


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