AUTISM FIRST STEPS
AUTISM DAILY NEWSLETTER     
Tuesday January 15, 2002  

INDEX:
*  Lactose Intolerance Gene Identified
*  Autistic man was held by force
*   Confronting the Rise in Autism
*  Autism Epidemic: Record Increases Continue in California
    Numbers continue to climb, no peak in sight
*  The Children's Communication Checklist In A Clinical Setting
*  Relaxation Training On The Disruptive Behavior Of An Autistic Boy

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Lactose Intolerance Gene Identified

Library: MED
Keywords: LACTOSE INTOLERANCE DAIRY FINNISH GENETIC MUTATION LOS ANGELES CA
Description: UCLA and Finnish researchers have identified a genetic mutation for lactose intolerance, a painful digestive condition that afflicts some 30 million to 50 million North Americans, 75 percent of African Americans and 90 percent of Asian Americans. (Nature Genetics, 14-Jan-2002)

Elaine Schmidt (elaines@support.ucla.edu)(310) 794-2272

Embargoed until: Jan. 13 at 2 p.m. ET

UCLA and Finnish Scientists Identify Genetic Mutation That Causes Lactose Intolerance

UCLA and Finnish researchers have identified a genetic mutation for lactose intolerance, a painful digestive condition that afflicts some 30 million to 50 million North Americans, 75 percent of African Americans and 90 percent of Asian Americans. The findings are reported in the Jan. 14 issue of Nature Genetics.

Dr. Leena Peltonen, UCLA's Gordon and Virginia MacDonald Distinguished Chair in Human Genetics, and her associates at the UCLA School of Medicine, collaborated with colleagues at Finland's National Public Health Institute to identify a DNA variant outside of the gene associated with lactose intolerance.

Lactose intolerance occurs in children after weaning, when the cells that line the small intestine decrease their production of an enzyme called lactase-phlorizin. For years, scientists' analyses of the human gene that encodes this enzyme revealed no mutation associated with the disorder. As a result, Peltonen's team looked for a DNA variant outside of the encoding gene.

The researchers drew blood samples in order to study the DNA of a Finnish group of 196 lactose-intolerant adults of African, Asian and European descent. Each of them showed the genetic mutation for lactose intolerance in their DNA.

"That we found the same DNA variant in all lactose-intolerant people across distant ethnic groups indicates to us that it is very old," explained Peltonen. "We believe that the variant we identified in patients is the original form of the gene -- which mutated to tolerate milk products when early humans adopted dairy farming.

"This suggests that everyone was originally lactose intolerant," she added. "It's an excellent example of a useful mutation in human history."

Lactose intolerance is the inability to digest large amounts of lactose -- the main sugar found in dairy products. Symptoms include nausea, cramps, bloating, gas and diarrhea, which begin about 30 minutes to 2 hours after consuming foods containing lactose.

Current tests for lactose intolerance are unreliable or tedious. Peltonen and her colleagues' findings will help speed the development of non-invasive reliable diagnostic tests and better treatment for this common problem.

-UCLA-
http://www.newswise.com/articles/2002/1/LACTOSE.UCL.html
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Autistic man was held by force

BY HELEN RUMBELOW

THE NHS watchdog has condemned a hospital for forcibly detaining an autistic man. In a case which may be used to champion the rights of disabled Britons, the NHS Ombudsman said the man, known as Leonard for legal reasons, should never have been held in the first place. Bournewood Psychiatric Hospital in Surrey refused for three and a half months to let the man’s guardians, who care for him at home as a member of their family, see him. When the relations won visiting rights in a High Court action, they found Leonard with blood pouring from his head where he had hurt himself. His clothes were soiled and he had lost two stone in weight. In a forthcoming report, the Ombudsman condemns the hospital’s actions. The man has become a test case for the rights of people whose conditions mean that they cannot communicate if they want to leave hospital. Leonard’s guardians, “Mr and Mrs E”, are taking their case to the European Court to try to change a ruling which means that hospitals can hold such patients without legal procedures. “We were afraid he was going to die if he didn’t come out soon,” said Mrs E, who has cared for Leonard for seven years. “When we got to him he was unrecognisable, he was so physically neglected. He looked devoid of any hope. “We couldn’t believe a British hospital could deny us access to him, and what was worse was that each time he deteriorated, they used that as an excuse to keep him for longer.” The problem began one morning in 1997, when Leonard became upset by a woman screaming on the bus on the way to his day centre. Normally he would calm down in the centre’s relaxation room, but because it was in use he became more distressed. Mr and Mrs E were shopping in Sainsbury’s, so the staff decided to send him to the hospital, where he remained under the order of a consultant psychiatrist, who kept him in hospital for almost five months because she believed that Leonard was better off there than in the care of Mr and Mrs E. They eventually won an independent assessment which allowed him home, where “he never stopped smiling”, they said. The Ombudsman’s report said that the complaints of Leonard’s “abuse, deprivation, and neglect” were not investigated because the chief executive of the hospital had already carried out an internal investigation which “conceded that there were ‘shortcomings in the provision of basic personal care’.” The report contradicted the views of the hospital psychiatrist and said that Mr and Mrs E provided Leonard with an excellent home. “It is obvious Mr and Mrs E are very committed to L, and are able to provide him with a significantly better quality of life than he had before.” The report said that the hospital should never have kept Leonard on the ward, and should have sent him back to his carers with whom he thrived. “Even if it was felt necessary to keep him overnight, it is difficult to see why he was not discharged the next day,” the report said. “I find it unsatisfactory, especially given the background and the nature of the incident in question, that he was not discharged back into Mr & Mrs E’s care.” David Pamment, director of mental health services at Bournewood, said that the hospital fully accepted the findings of the report, and had apologised to Mr and Mrs E. The National Autistic Society said the case showed that people with autism and other vulnerable adults “still do not have the same rights as the mainstream population, and can find themselves detained with no apparent reason”. While Leonard was at the hospital Mr and Mrs E won a High Court battle to get him sectioned under the Mental Health Act, which granted him visiting rights and access to an independent medical assessment. The High Court ruling declared it unlawful for hospitals to hold adults without legal procedures simply because they could not say they wanted to go home. However, last year that ruling was overturned in the House of Lords. Mr and Mrs E are now using this as a test case in the European Court of Human Rights.

http://www.thetimes.co.uk/article/0,,2-2002021296,00.html
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Confronting the Rise in Autism

The News and Observer
Sher Stoneman January 13, 2002

By SARAH AVERY, Staff Writer The physical beauty of 5-year-old Patrick Lane, his deep blue eyes dazzling under sunshine-white hair, conceals a neurological defect that is at the center of a growing medical phenomenon. Patrick has autism, a developmental disability currently diagnosed in at least one in 500 Americans. It was once considered rare; in the 1960s, scientists pegged its occurrence at one in 2,500 people. So its increasing prevalence is as puzzling as its myriad symptoms. Scientists have only theories why there are more and more children such as Patrick. A leading reason may be an increased willingness among doctors to make the diagnosis, especially when children are only mildly affected. Then too, genes appear to play a role, perhaps lining up in such a way that some unknown environmental toxin triggers a switch, and a seemingly normal baby stops talking and ignores everything and everyone. Whatever the causes, the higher incidence of autism is especially evident in the Triangle. Drawn by a program developed at the University of North Carolina at Chapel Hill in the late 1960s, and additional research at Duke University, people with autistic children often move to the region for the diagnostic expertise, the treatments, the research, the advocacy, and the public schools. "We have more services than a majority of the states in the country," said David Laxton, communications director with the Autism Society of North Carolina. "I had one person call on a Wednesday and said, 'We're moving to North Carolina on Saturday, and we need to know where to live.' " No agency has tracked the historical incidence of autism in North Carolina, but public school data offer some insight. With 401 autistic children enrolled last year, the Wake County school system had more autistic children than any other in the state, almost twice as many as Charlotte-Mecklenburg, the state's largest school district. That number is also almost four times what it was 10 years ago. Likewise, the percentage of autistic children enrolled in exceptional children's programs is higher in the Chapel Hill-Carrboro school district than anywhere else in the state. Patrick's parents, William and Helene Lane of Raleigh, had lived in Raleigh for several years before Patrick was born; after his diagnosis, the first-time parents discovered a large community they had no idea existed. "All of a sudden, you get swept up into a world that is totally different," Helene Lane said. Early signs Patrick had always acted a little peculiar. He was fretful, and often impossible to console. He didn't walk until he was 15 months old. He hated loud noises, so that in church, when everyone said "Amen," Patrick screamed. By age 3, he spoke only about 100 words, and he mainly just echoed what someone else said. "Being first-time parents, we didn't know if his behavior was different from other kids," Helene Lane says. But they harbored suspicions. When he was 3, he began isolating himself from his classmates in preschool, and his teacher suggested that the Lanes have him tested for autism. Helene Lane said the teacher's suggestion came as a surprise, but she was eager to get at the root of her son's distress. So the Lanes went to Project Enlightenment, a division of the Wake County Public Schools for early childhood education, and from there he was referred to the Developmental Evaluation Center in Garner. Doctors and therapists conducted tests, talked with the Lanes and observed Patrick in action over a four-hour evaluation. Halfway through, Patrick became frustrated, hitting Helene and crawling all over her, wanting to get away from the examiners. "That was what we were used to," Helene Lane said. "Whenever he got upset, he started flailing at us, fussing and shouting." The diagnosis was clear. Autism runs along a spectrum, from severe to high-functioning, and usually isn't diagnosed until after age 2. Often, children seem to develop normally and then appear to regress. Severely autistic children withdraw from people, avoid eye contact, can be overly sensitive to light or touch, engage in repetitive behavior such as flapping their hands, and may erupt into tantrums or aggressive outbursts. In about half of cases, intelligence is impaired. Patrick was on the high end of the spectrum, with normal cognitive abilities. The comfort of diagnosis "We felt relief," said William Lane, who practices environmental law with the Kilpatrick Stockton firm in Raleigh. "You can't come to terms with something if you don't know what it is. It gave us a diagnosis that people understand, and not just lay people, but people who can help -- counselors, teachers, doctors." One of the first places the Lanes headed was to Chapel Hill, home of a program called TEACCH, for Treatment and Education of Autistic and related Communication handicapped Children. The program began in the mid-1960s, and it was a radical departure from the prevailing philosophy that autistic children withdrew in response to cold, unfeeling mothers -- the so-called "refrigerator mother" syndrome. Eric Schopler had studied autistic children as a doctoral student at the University of Chicago and then as a professor at UNC, and he came to the conclusion that the old Freudian interpretation was not only wrong, it harmed families. With grant money from the National Institute of Mental Health, Schopler began using behavioral therapies tailored specifically to the child, and involving the parents as integral partners. If a child used hand signals instead of talking, for example, therapists and parents would work together, using a reward system, to insist that the child speak. It was highly effective. Children who had been deeply withdrawn began communicating, and the parents, rather than being demonized, were invested in the therapy. By the time the NIMH grant money ran out in five years, Schopler had a devoted following. The parents insisted that the program continue, and turned to the state for help. "We decided to have a legislative breakfast where we'd bring the kids and we could show how we'd worked with them," Schopler said. "We were able to use a church in Raleigh, and more legislators showed up than we expected. And the main guy at the time was Lt. Gov. [Pat] Taylor, who set the agenda for new legislation. "We started the breakfast without him, and he showed up late and sat down next to a boy who was one of our toughest cases. The child ate his food with his hands, and he was eating grits with his hands and got grits on Taylor's tie. But this politician was astute enough to see that the child was making a social interaction." A model of progressiveness The success of the breakfast led to the passage, in 1972, of a law that established three TEACCH centers around the state to offer diagnosis and therapies. The centers, funded as a division of UNC's psychiatry department and offered without cost to families, were the first of their kind in the country. They established North Carolina as a model of progressiveness in autism treatment. Now, TEACCH operates nine centers throughout the state, including the original site in Chapel Hill and a new center that opened this year in Raleigh. Together, the Chapel Hill and Raleigh centers handle 250 to 300 referrals a year; all nine centers have waiting lists. Many of the people on those lists have moved from other areas of the country, leaving behind family and friends for the opportunity to get their child into a program. It's a common phenomenon; in California, where autism services are also strong, the number of autistic children has spiked from 4,911 in 1993 to 15,441. Researchers there are exploring what, in addition to the draw of services, is contributing to the increase. A similar study is starting at UNC, which has begun assembling a database to determine what is causing the rising numbers of autism diagnoses. For the schools, the climbing numbers of autistic children have been matched by an increase in classrooms to serve them. Wake schools had just 10 self-contained classes for autistic students, including pre-schoolers, as recently as 1993. The school system now operates between 40 and 45 of the separate classes, adding a strain on a system already pressed to keep up with overall increases in special education enrollments. Sharon Floyd, a former teacher of autistic children who now works in Wake schools as a special education administrator, said the system is facing a shortage of special education teachers, which affects classes for autistic children. "It's kind of hard now to find all the teachers we need," Floyd said. "Now when you're opening six or seven classes a year, it's tough." Other students who show milder symptoms attend regular classes for all or part of the day and may get specialized help in less-intensive, part-day programs for students with various learning handicaps. Many of the public schools train teachers and psychologists at TEACCH centers, and use the TEACCH method, which relies heavily on visual cues to help children learn. It's an intensive approach. "Years ago, we told people that if they're thinking of moving here, it is not Shangri-la and your child becomes immediately OK," said Lee M. Marcus, clinical director of the Chapel Hill and Raleigh TEACCH centers and psychiatry professor at UNC-CH. "Nothing is handed to people. Most of the time, this works. But it takes a lot of support and a long-term commitment." Shelley and Dan Lakes have been waiting to start a TEACCH treatment program for their daughter Carly since moving to the Triangle in April. They relocated from Alabama in no small part to take advantage of the autism services. Carly, who is 7, was diagnosed with autism when she was 3, and the services in their small town were lacking. They had to travel 180 miles to Birmingham just to get Carly diagnosed, they had few advocacy resources, and the public schools were not well equipped to handle Carly's hard-charging personality, so Shelley home-schooled her. "If it hadn't been for the [lack of] autism services, we would have stayed put," Shelley Lakes said. The Lakes' first stop in North Carolina was TEACCH. After an initial assessment, they were put on a waiting list and are hoping to begin the program this spring. Meanwhile, she is enrolled in a special class at Vance Elementary. "It's going to take awhile to get plugged into things," she said, "because we're new here, and we're not as familiar, so we have to dig around." Entering a new universe For William and Helene Lane, getting plugged in served as their own form of therapy: "Doing something about it healed the pain," William Lane said. Once they got an appointment in the TEACCH program, the Lanes began the long process of working with Patrick to help him speak and and interact more naturally. Helene Lane quit her job as marketing manager at Cisco Systems and immersed herself in this new universe. She became a leader in the Autism Society of North Carolina, one of the largest and most active chapters of the national organization. And she learned to navigate the system, enrolling Patrick in preschool programs and getting him an Individual Education Plan, which school systems use to devise and map progress. The Lanes agreed to participate in a research trial at UNC to examine what role genes play in the disorder. Similar research is being conducted at Duke among 200 families who have multiple cases of autism. Eventually, genetics may prove to be at the root of the disorder. When parents have one autistic child, they have a higher risk of having a second child with the disorder -- a 5 percent to 10 percent chance versus the 0.1 percent to 0.2 percent chance for unaffected families. But those are good odds, and the Lanes' 3-year-old daughter, Kristina, is not autistic. Discovering the basis for the disorder will answer the mystery of why Patrick has more and more autistic peers. In the absence of clear scientific explanations, theories arise. One of the most controversial has been the suggestion that childhood measles, mumps and rubella vaccines have caused autism. The notion stemmed from the findings of an English doctor who used 12 cases to form an anecdotal association. Broader, more rigorous research has discounted the theory. But it instilled fears about the MMR shots, which then prompted autism organizations, pediatricians and the federal government to issue statements defending the safety and necessity of childhood vaccines. "There is a theory of the month, or at least a theory of the year," said Dr. G. Robert DeLong, professor of pediatric neurology at Duke and an autism researcher. "We don't have anything that explains why autism occurs, so that encourages all this quackery." Other theories include unknown environmental toxins that, combined with a defective gene, spark the disorder. Diet, allergies, unusual brain chemistry -- all have been debated. DeLong said he is intrigued that antidepressants helped a third of autistic children in a study he mounted, and he is continuing research to see whether manic-depressive illness and autism are somehow linked. Much of the increased prevalence might simply be due to improvements in diagnoses, which ratchet up the numbers. In fact, high-functioning children such as Patrick might have been considered quirky 30 years ago, but not autistic. Today, they are included in the diagnosis. Autism stigma wiped out Part of the reason that doctors are more inclined to make the diagnosis stems from the work of Schopler and others who debunked the "refrigerator mother" notion, erasing the stigma. Research has also shown that an early diagnosis presents the best chance for improvement, offering interventions in the important, formative years between infancy and age 6. And because many autistic people have an extraordinary ability to focus and concentrate, they often gravitate to fields such as engineering and computer programming. People with severe autism, however, need lifelong assistance. The Lanes said they wished Patrick's behaviors had been flagged earlier, because he has had only two years of therapy. In that time, however, he has made tremendous progress. A casual observer might never know that Patrick has autism -- he speaks when spoken to, is polite and considerate and even has a mischievous sense of humor. And through work with TEACCH and the autism society, the Lanes have learned to accommodate Patrick's unique demands. They let him adhere to routines, allowing him to put his pants on before his socks. They toilet trained him by diagramming the process, step by step, and posting it in the bathroom. In recent months, the Lanes have hired a speech therapist at the Mariposa School, a Raleigh program that offers verbal behavior therapy for autistic children, and will pay $3,000 to $4,000 for the service. For three hours every week, the therapist plops down on the floor of Patrick's bedroom and runs a quick-paced session of verbal drills. The work has helped him get placed in a regular classroom for half a day at North Ridge Elementary School, getting more intensive sessions in a special class the other half. Recently, the teacher in his regular classroom noted that Patrick has been cutting up with a group of boys at his table. It was the not-so-perfect behavior expected of 5-year-olds, and for Helene Lane, it was cause for celebration. "The other parents might have been worried," Helene Lane said, "but I was like, 'Yes! Normal.'" Staff writer Todd Silberman contributed to this report. Staff writer Sarah Avery can be reached at 829-4882 or savery@newobserver
© Copyright 2001, The News & Observer All material found on newsobserver.com is copyrighted The News& Observer and associated news services. No material may be reproduced or reused without explicit permission from The News & Observer.

Brains Show Signs of Two Bilingual Roads
For adults, learning a second language can be a real challenge. For young students, it can be second nature. Recent brain research indicates that children, unlike teenagers and adults, draw little distinction between the way they learn a native and a second language.

http://www.brainconnection.com/SITEWare/2002/01/13/eng-raleigh_home/eng-raleigh_home_013359_1960304262651794616.php3
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Autism Epidemic: Record Increases Continue in California
Numbers continue to climb, no peak in sight

     • All time one year record number of cases.
     • Autism becomes number one disability entering
       California's system.
     • Previous 25 years autism pop. now reached in three.
     • 4 of 5 Male born since 1980, Most no mental retardation

     [From Rick Rollens, autism research advocate.]

 With no changes in the diagnostic criteria for many years, and a
system that has been ascertaining autism since 1970, the California
Department of Developmental Services (DDS) recently released the following
data on the number of new cases of fully diagnosed DSM IV (Level One) autism
(not including other autism spectrum disorder such as PDD, NOS, or
Asperger's, or other rare "autism like" genetic diseases):
     1. An all time one-year (1970-2001) record number of cases (2,725)
were added to California's system in 2001. This number represents a 20%
increase in one year over the previous record year of 2000. The just
completed 4th Quarter of 2001 (Oct. 4, 2001 to Jan. 3, 2002) also set an all
time record for numbers of new cases for any 4th Quarter in the history of
the system. During 2001, each of the four quarters posted all time record
setting increases. There were more cases of level one autism added in 2001
then in all of 1994, 1995, and 1996 combined.
     2. In 2001, for the first time ever in California's history, level one
autism became the number one disability entering California's
system...accounting for an astonishing 35% of all new intakes in 2001. A
percentage that has exploded from historic levels of 3%. Autism Has
Surpassed Mental Retardation, Cerebral Palsy, Epilepsy, And All Other
Conditions Similar To Mental Retardation As The Number One Disability
Entering California's Developmental Services System.
     3. California now has 16,802 persons with level one autism in its
system. It took 25 years (1970-1995) to add 6,527 cases. Unbelievably, it
has taken only 3 years (1999-2001) to add an additional 6,596 new cases.
Simply put, what use to take 25 years now takes three.
     4. According to DDS, of the 16,802 persons with level one autism in
it's system: 82% are male, 56% have NO mental retardation, and 80% were born
after 1980...  the beginning of the autism epidemic. Amazingly, of the total
number of persons in the system (16,802).... 11,104 or two out of every
three persons (66%) are children between the age 0 to 13 years old.

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The Children's Communication Checklist In A Clinical Setting

Parent and teacher report of pragmatic aspects of communication: use of the
children's communication checklist in a clinical setting.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ui
ds=11769267&dopt=Abstract <- - address ends here.
Bishop DV, Baird G.
Department of Experimental Psychology, University of Oxford, UK.
dorothy.bishop@psy.ox.ac.uk

   The Children's Communication Checklist (CCC) was developed to provide
an objective assessment of pragmatic aspects of children's communication
difficulties. We aimed to (1) see whether the checklist provided valid and
reliable information when completed by parents, and (2) consider its
usefulness in a clinical context.
     Checklists were completed by parents and a professional who knew the
child well for all 5 to 17-year-old referrals to a tertiary developmental
paediatrics centre over a 31-month period. Children who were not yet
speaking in sentences were excluded. From a sample of 151 children (81%
male; mean age 8.7 years) with pervasive or specific developmental
disorders, valid checklists were completed by 119 parents and 93
professionals.
     Reliability, as measured by internal consistency, was 0.7 or higher
for most scales. Correlations between ratings for parents and professionals
were in the range of 0.30 to 0.58 for individual pragmatic scales, with a
correlation of 0.46 (n=82) for the pragmatic composite.
     For both parents and professionals, the pragmatic composite was lowest
for children with a diagnosis of autism; intermediate for those with a
diagnosis of Asperger syndrome, pervasive developmental disorder not
otherwise specified or attention-deficit-hyperactivity disorder (ADHD); and
highest for those with a diagnosis of specific learning disability. The
strongest relation between the pragmatic composite and diagnosis was seen
when ratings from parents and professionals were combined. Differences
between diagnostic groups were not explicable in terms of age or verbal IQ.
     PMID: 11769267 [PubMed - in process
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Relaxation Training On The Disruptive Behavior Of An Autistic Boy

The effects of progressive relaxation training on the disruptive behavior of
a boy with autism.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ui
ds=11768670&dopt=Abstract <- - address ends here.
Mullins JL, Christian L.  University of Kansas, USA.

     This study examined the effects of progressive relaxation training on
the disruptive behaviors of a boy with autism. Moreover, his overt relaxed
behaviors before and after relaxation training were measured using the
Behavioral Relaxation Scale (Poppen, 1988, Poppen, 1998).
     After the participant received training in progressive relaxation
procedures a multielement design with three conditions was utilized to
determine the effects of the procedures on the duration of the boy's
disruptive behaviors during leisure activity sessions.
     The conditions were: (a) relaxation prior to a leisure activity
session; (b) cued relaxation; and (c) no relaxation prior to the session,
which represented a baseline condition. Results indicated that the
participant acquired progressive relaxation skills, displayed more relaxed
behaviors after performing the procedures, and showed a decrease in the
duration of his disruptive behaviors upon completing progressive relaxation
training prior to a leisure activity session. Implications for future
research are discussed.
     PMID: 11768670 [PubMed - in process

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