Tuesday, April 29, 2008

Autism and Childhood Schizophrenia are Molecularly the SAME

Copyright © 2008 Cell Press. All rights reserved.
Neuron, Vol 58, 165-167, 24 April 2008

Schizophrenia: Genome, Interrupted
Rita M. Cantor1,2, and Daniel H. Geschwind1,2,3,

1 Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA
2 Center for Neurobehavioral Genetics, Semel Institute, University of California, Los Angeles, Los Angeles, CA 90095, USA
3 Program in Neurogenetics, Department of Neurology, University of California, Los Angeles, Los Angeles, CA 90095, USA

Corresponding author
Rita M. Cantor

Corresponding author
Daniel H. Geschwind


"The specificity of the identified variants
for schizophrenia remains unknown. For
example, CNVs in Neurexin 1 and recurrent
CNV on chromosome 16p11 previously
reported in ASD and other neurodevelopmental
disorders were also
observed in this study. This is not problematic,
but rather it presents a significant
opportunity to understand the relationship
of these disorders at a molecular
level. If the same genes carry mutations
for the development of schizophrenia or
autism, it suggests genetic pleiotropy,
where multiple disorders derive from mutations
in the same gene, and the disorder
is conditional upon the presence of other
modifying alleles, environment factors, or
chance. It also should be recognized that
childhood schizophrenia shares some
clinical features with ASD and has been
considered part of the ASD spectrum in
the past. Thus, from a neurobiological perspective,
these genetic data support the
notion of a link between disorders involving
neurodevelopmental processes that
are currently considered to be clinically
distinct. This work makes significant inroads
in breaking down the somewhat
artificial clinical distinctions between neuropsychiatric
diseases and provides support
for defining core phenotypes related
to the common genetic mechanisms"


Saturday, April 26, 2008

Conclusion Our data revealed a higher mortality in offspring of fathers aged 45 years or more that lasted into adulthood.

Eur J Epidemiol. 2008 Apr 25 [Epub ahead of print]Paternal age and mortality in children.Zhu JL, Vestergaard M, Madsen KM, Olsen J.
The Danish Epidemiology Science Centre, University of Aarhus, Vennelyst Boulevard 6, 8000, Aarhus C, Denmark, zjl@soci.au.dk.

Background Since paternal age correlates with some diseases that have a high case-fatality, a paternal age effect on offspring's survival is expected but unsettled. We examined the association between paternal age and mortality in children in a large population-based cohort taking maternal age and socioeconomic factors into account. Methods From the Danish Fertility Database (1980-1996), we identified 102,879 couples and their firstborn singleton children. Information on childhood death (N = 831) was obtained by linking the cohort to the nationwide register on cause of death (1980-1998). Results We observed a U-shaped association between paternal age and the overall mortality rate in children up to 18 years of age. Adjustment for maternal age and other confounders reduced the mortality rate ratio (MRR) for children of younger fathers but not for children of older fathers. Compared with children of fathers aged between 25 and 29 years, the adjusted MRR was 1.77 (95% confidence interval 1.28-2.45) for children of fathers aged between 45 and 49 years and 1.59 (1.03-2.46) for children of fathers aged 50 years or more. The cause-specific MRRs were highest for congenital malformations [2.35 (1.42-3.88)] and injury or poisoning [3.43 (1.49-7.92)] for children of fathers aged 45 years or more. Conclusion Our data revealed a higher mortality in offspring of fathers aged 45 years or more that lasted into adulthood. This adds to the cumulating evidence on adverse effects of advanced paternal age in procreation.

PMID: 18437509 [PubMed - as supplied by publisher]


Wednesday, April 23, 2008

Flea: Old Fathers Flea is a Pediatrician

Flea: Old Fathers

Flea: Old Fathers

There are many studies with data on conditions that are associated with increasing paternal age. To not take seriously, the Reichenberg study of more than 318,000 offspring, born in the 1980s, showing that men over 40 were almost six times more likely to father an autistic child as those under 30, is a mistake. The risk goes up to nine times with fathers over 50.

There's a 5-year old I know from our neighborhood playground. I know only two things about her: Her father was 84 when she was born, and she is profoundly autistic.

I know that anectdotes are meaningless and data are everything, but I couldn't help think of this precious little girl when I read of this study in the Archives in General Psychiatry

Data are everything, but I can't help wondering what this study will do to the conversation about autism.

My guess is it will do nothing. Could delayed parenthood be partly responsible for the "autism epidemic"? Americans don't want to hear that their lifestyle choices may have deleterious effects on their children. My guess is that some folks will shun this data as vigorously they shun the data that demonstrate, convincingly, that vaccines do not cause autism
Labels: American Lifestyle, autism epidemic, Flea at his most brilliant, old fathers


Sunday, April 20, 2008

And, older fathers are more likely to have children with autism, schizophrenia, and Down syndrome and to have daughters who go on to develop breast ca


Unfortunate legacies
How a man lives, works and ages could have long-term implications for the health of his offspring, Science News writes, citing a growing body of research into the topic:

Teenage dads face increased risk that their babies will be born prematurely, have low birth weight, or die at birth or shortly afterward, a new study in Human Reproduction shows.

Babies of firefighters, painters, woodworkers, janitors, and men exposed to solvents and other chemicals in the workplace are more likely to be miscarried, stillborn, or to develop cancer later in life, according to a review in the February Basic & Clinical Pharmacology & Toxicology.

Fathers who smoke or are exposed at work to chemicals called polycyclic aromatic hydrocarbons put their children at risk of developing brain tumors.

And, older fathers are more likely to have children with autism, schizophrenia, and Down syndrome and to have daughters who go on to develop breast cancer.

It's all a matter of math, writer Tina Hesman Saey explains:

Women are born with all the eggs they will produce in their lifetime. The cells that give rise to eggs divide 24 times, all before birth. But the cells that produce sperm continue to divide throughout a man's lifetime. Each year after puberty, a man's sperm-producing cells replicate about 23 times. Every time the cells divide is another chance for error.

As a result, the sperm produced by a 40-year-old man have gone through about 610 rounds of replication. That's 610 chances of introducing a mutation in the DNA, or improperly divvying up genetic material.

Posted by Brian Chin at April 3, 2008 8:24 a.m.
Category: Science explains why

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Thursday, April 17, 2008

Sperm Donor Standard 18-35th Birthday to minimize genetic abnormalities

If a sperm bank cuts off donations at a man's 35th birthday why is average paternal age so very high in the USA? Are we not being told some scientific truths?

Donor Standards

Our donors are recruited from the school campuses of
western Montana and eastern Washington. Most of our
donors are either currently involved with, or have finished
their higher education at the time of their participation in
our donor program. All donors are between 18 and 35
years of age in order to minimize genetic abnormalities.

All donors are frozen in very limited quantities, in order
to guarantee that the number of pregnancies created
from any one donor are limited. Although all donor
histories are reviewed to provide you with donors that
should give you a great chance of concieving a healthy
and normal baby, there is of course no way to
guarantee such an outcome. As all donor family histories
will present with their own unique positive and negative
attributes, we encourage all clients to review donor
information thoroughly prior to purchase and use of

Our donor screening meets or exceeds the standards set
forth by the AATB, ASRM, and CFAS. (American
Association of Tissue Banks, American Society for
Reproductive Medicine, and the Canadian Fertility and Andrology Society)

Donor Screening includes the following:
Three generation family health history with no indication of major genetically linked disease

and a new review paper:

1: Urol Clin North Am. 2008 May;35(2):331-9.
The effect of aging on spermatogenesis and pregnancy outcomes.Lazarou S, Morgentaler A.
Division of Urology, Harvard Medical School, Beth Israel Deaconess Medical Center, Boston, MA, USA.

Until fairly recently, it had been assumed that paternal age had only a minor impact on reproductive outcome. Several recent provocative studies have raised the specter of a causal association between paternal age and significant medical conditions in the offspring. However, the observational nature of these studies leaves open the possibility that factors other than age itself may be responsible for observed results. This article reviews the available data on this topic, with an eye toward providing a basis for clinical counseling of the older man who wishes to have a child.

PMID: 18423252 [PubMed - in process]

Labels: ,

Wednesday, April 16, 2008

The Fathers Too, Were Much Older Than Average --A study of classical autism in 1980

The Fathers Too, Were Much Older Than Average --A study of classical autism in 1980

1: J Autism Dev Disord. 1980 Sep;10(3):293-7. Links
Maternal age and infantile autism.Gillberg C.
In a total population survey of childhood psychosis in the region of Goteborg, 20 children (2 in every 10,000) fulfilled the diagnostic criteria for infantile autism formulated by Rutter. There was a male preponderance with 15 boys and 5 girls. Eighty-five percent of the mothers were older than average. Mean maternal age in the autistic sample was 30.7 years, compared with 26.0 years in the general population. The difference is statistically significant at the .1% level. There was a strong tendency toward increasing risk of autism in the child with increasing maternal age. The fathers too were much older than average.PMID: 6927656 [PubMed - indexed for MEDLINE]
Labels: fathers mean average age of 34, infantile autism, older fathers, older mothers

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Monday, April 14, 2008

Father of twins born when he was in his mid 50s are autistic/childhood schizophrenic

Autism and Childhood Development
Share Print By Cindy Rich

For 18 months, William and Elizabeth seemed like typical babies. Then the twins parents started noticing problems. Now, at age five, the children have autism.

Something Happened and We Don’t Know Why

There’s a light breeze over Rehoboth Beach as five-year-old Elizabeth Polanin takes her dad’s hand and walks toward the ocean. “That is one big pool, isn’t it, baby?” her father says.

The water comes close, so Elizabeth steps back. She smiles and shakes a hand in the air, a sign she’s excited, then covers her ears as a wave crashes—like many children with autism, she’s sensitive to sounds.

When the water recedes, Elizabeth walks toward it again, making high-pitched sounds and rubbing her hand against the back of her head. “You’re getting brave now!” her father says.

Water is one of Elizabeth’s favorite things. She once took ten baths in a day. She’ll happily sit in her inflatable pool at home in Greenbelt and watch a toy spin in the water.

Her twin brother, William, likes water too. He used to leave the faucet on for hours and watch it flow.

When Elizabeth comes back from the ocean, she jumps into her mother’s lap, accidentally hitting her.

“Don’t hit people,” William tells his sister. “Don’t hurt your William. Don’t hurt your peoples. Don’t hit your peoples.”

Elizabeth doesn’t respond to her brother. She used to when they were babies, but now she hardly talks at all.

“These children were normal that first year and a half, as normal as two babies could be,” says Joe, her father. “Something happened to them, and we don’t know why.”

Autism is a spectrum disorder—children who have it exhibit a wide range of behaviors. William talks; Elizabeth rarely does. He sleeps in a bed; she sleeps in a crib. He’s learning to write letters and numbers; she’s learning “come here” and “stop.”

The National Institute of Mental Health defines autism as a developmental disorder characterized by an impairment in thinking, feeling, language, and the ability to relate to others. William and Elizabeth fall on ends of the spectrum. He’s “high-functioning,” and she’s “low-functioning.”

According to the Autism Society of America, autism is the nation’s fastest-growing developmental disability. One in 166 children has an autism-spectrum disorder—four times as many boys as girls—and about 40 percent don’t speak.

In Prince George’s County, where William and Elizabeth attend school, more than 800 students fall on the autism spectrum; about 250 did in 1999. Montgomery County has 943 students with an autism-spectrum disorder, and 28 classes exclusively for children with autism. Fairfax County has 1,188 students receiving autism services, up nearly 50 percent from five years ago. Arlington had 87 students on the spectrum in 2001 and has almost twice that now. Loudoun has 450. Alexandria has 63. (DC Public Schools did not provide figures.)

Researchers don’t know what causes the brain abnormalities that lead to autism. Evidence supports both genetic and environmental factors. Nobody knows why the numbers seem to be rising. Some think the high rates have always been there but children now are more accurately diagnosed. Others argue there’s an epidemic.

Neurodevelopmental pediatrician Chuck Conlon, who treats William and Elizabeth, says: “I know very few people, if anybody, who don’t have some connection to someone with autism.”

When Julie Polanin gave birth to two healthy babies in June 2001, she and Joe didn’t give autism a thought.

Julie tried for three years to have children. She was 35 when she found out she had a benign fibroid tumor in her uterus. If she had it removed, doctors told her, the procedure would turn into a hysterectomy, and she wouldn’t be able to have a child.

Julie had finally found the man she wanted to have children with. She’d met Joe Polanin in 1989 while they were working at a Silver Spring nursing home. He was office manager; she coordinated social services. He had custody of his two older sons. Joe and Julie both loved music. She fell for his quirky sense of humor. They married in 1995.

Joe knew it was late to become a father again—he’s now 60—but he knew how much fun kids could be and how much a child meant to Julie.

They found a doctor who could perform the surgery without removing Julie’s uterus. She miscarried two years later in 1999, but doctors were still optimistic.

Julie stayed away from alcohol and caffeine. She avoided fish because she worried about the effects of mercury. She drank bottled water.

In October 2000, she was pregnant again. A sonogram showed twins. Julie was ecstatic.

Six months into her pregnancy, Julie went into preterm labor. Doctors put her on bed rest for three months. Every day, she read about how the babies were growing inside her.

At 38, Julie knew she was at higher risk for Down syndrome. She and Joe agreed to have amniocentesis.

A nurse called soon after and told her, “Your babies are perfect.”

It’s June 2006, and the twins are turning five. A photo on their birthday cake shows them as infants, sitting in the green felt pouches they were in at Halloween. “Two peas in a pod,” their parents called them. The icing on the cake reads my how you’ve grown.

William sits in a hammock, wearing a Spider-Man T-shirt, playing with a toy that churns out bubbles. Elizabeth wanders in and out of the house, unaware she’s turning five today.

The Polanins’ backyard is a private playground. William makes racetracks from sticks and mulch for his toy cars. He rides a tricycle into a small tree, repeatedly saying, “Oops—he crashed.” He looks for trolls hiding among the trees.

Elizabeth often sits in the pool chewing on a toy, or swings so fast that the swing set shakes. She stands on her tire swing and twirls around.

There’s one other child at the party; most guests are Julie and Joe’s friends. William and Elizabeth usually play alone. Neighborhood kids don’t come over—Julie thinks their parents aren’t comfortable letting them play at her house.

“It’s time to cut the cake!” Joe yells.

“Not yet,” William says. He walks to the back door, his hands over his ears. “Let’s go in the house.” He watches from inside the doorway while the others stand near the cake in the backyard and his mom blows out the candles.

Julie and Joe hoped William and Elizabeth would be starting kindergarten soon. Joe would be retiring in a few years from his job as accounts specialist at Adventist Healthcare, so he would be there to greet them after school.

He looked forward to age five as a turning point, as it had been with his older sons. That’s when a parent’s job got easier.

When Dr. Chuck Conlon started his pediatric training at Bethesda’s National Naval Medical Center in 1979, the medical community was just beginning to understand autism. A young patient at the center, who exhibited repetitive behaviors and language that was unclear and disconnected, was diagnosed with “childhood schizophrenia.” Doctors didn’t know what they were seeing.

Autism had been identified in the 1940s by Leo Kanner, a physician at Johns Hopkins Hospital. He studied 11 children who showed signs of social isolation, limited speech, and lack of emotional attachment, and he introduced the label “early infantile autism.” But the term wasn’t widely accepted until the 1980s.

Around the same time Kanner identified autism, an Austrian named Hans Asperger observed a behavior pattern in boys that included normal intelligence and language development, and difficulty adapting to a social environment. It was named Asperger’s syndrome. Both autism and Asperger’s fall under the category of pervasive developmental disorder.

People with Asperger’s also exhibit a range of behaviors, including fixation with a single topic, difficulty understanding abstract concepts, repetitive rituals, socially inappropriate behavior, and lack of coordination. Many such children have a high level of vocabulary. They’re often described as “eccentric.”

In some children with autism, the behavioral signs are subtle; in others, they’re easy to see. “People think about the worst-case scenario,” Dr. Conlon says. “No language, doesn’t interact, never makes eye contact. That’s the rarity these days.”

As babies, William and Elizabeth liked to steal each other’s bottles and toys. Elizabeth laughed at her brother when he rubbed food all over his face. They sat next to each other and played. When Elizabeth was sad, William cried.

Both crawled by six months—earlier than many. Elizabeth liked looking at tags on pillows. She’s going to be a reader, Julie thought.

Julie and Joe took the kids on a winter trip to Rehoboth Beach, where William and Elizabeth enjoyed the hotel’s indoor pool and Elizabeth tasted her first Krispy Kreme doughnut.

By ten months, Elizabeth had started saying “Daddy.” William knew “Mama,” then “cool” and “hot.” Elizabeth walked at a year, a month later than her brother. Around that time her eyes changed from blue to gray.

Fifty people came to celebrate their first birthday. Elizabeth and William scooted around in carts. William said “ooh” and “aah” after every gift was opened.

Elizabeth fell asleep eating cake, and Julie took pictures of her covered in chocolate.

When Julie saw a Washington Post article this September about a study linking autism in children to the age of the father, she sent Joe an instant message.

The study showed that the chances of having a child with autism are five times greater for a father in his forties than for a father in his twenties, and nine times higher for a father in his fifties.

“Did you read it?” she asked.

“Yup, I read it,” he said.

She dropped the subject. She didn’t want Joe to think she was blaming him.

Julie had always thought it was unfair that older women had to worry about having children but older men didn’t. She’d never considered Joe’s age an issue, and doctors hadn’t mentioned it.

“You want children so badly, and time clicks away,” Julie says. “You don’t really sit down and think that these things can happen.”

Joe didn’t get upset when he heard about the age study. He’d heard lots of explanations for autism: The mercury once contained in the measles, mumps, and rubella (MMR) vaccination; lead levels in the air from the cars driven while he was growing up; mercury exposure from coal-burning power plants.

“When people look at the Strom Thurmond and Hugh Hefner types having healthy children, they think it must be okay for guys,” Joe says. “That may not be true.”

Autism researchers continue to focus on brain structure. A study by the University of California at Davis’s MIND Institute—the acronym stands for Medical Investigation of Neurodevelopmental Disorders—showed that males with autism have fewer neurons in the amygdala, a part of the brain associated with emotion and memory. Autism has also been linked to rapid brain growth during infancy.

A study released in June by the Yale University School of Medicine found differences in the placentas of children who fall on the autism spectrum, prompting the headline test could spot autism at birth.

Julie still believes her kids’ problems are connected to the MMR vaccine they had when they were a year old. Even if genetics are a factor, she says, the mercury in that vaccine and others since probably triggered the autism: “Why would anyone put a known neurotoxin in someone’s body?”

Thimerosal, the mercury-based preservative used in the vaccine, has been the subject of debate for a decade. Many large-scale studies have disproved a link between Thimerosal and autism. Last April, nearly 1,000 people gathered in DC for the Mercury Generation March, lobbying for more research. The FDA reports that Thimerosal has been virtually removed from almost all vaccines for kids under seven.

Joe isn’t sure why his children have autism. Early on, he blamed the vaccine. Now he wonders if it’s a combination of factors, including genes. He has no regrets.

“There’s no undoing something you did yesterday,” he says. “You can’t stop living because of all the risks involved.”

In December 2002, when she was 18 months old, Elizabeth stopped responding when Julie called her name. Elizabeth liked looking out the window. She liked watching wheels spin.

Julie didn’t know much about autism: She thought children who had it banged their heads against walls and bit people.

Soon after Christmas, Elizabeth stopped coming to her parents for hugs. She was more interested in watching things in motion than she was in people. She seemed confused, like the Alzheimer’s patients Julie helped in the nursing home. William was playing with wooden trains and putting puzzles together.

That May, the family took a two-week trip to Illinois for the wedding of one of Joe’s sons. In the months before they left, Elizabeth could sing along with “Wheels on the Bus.” She could dance like a ballerina.

On the trip, she cried a lot. She stopped eating with a spoon. She clenched her hands together and rolled her eyes. She stopped saying the words she’d learned, like “ball” and “good girl.”

Julie asked other parents if their children had ever lost their language. “Yes,” one mother told her, “my son just decided he wasn’t going to talk for a while, then started again.”

“All right!” Julie said. “Did you hear that, Joe?”

She sang “The Ants Go Marching,” hoping Elizabeth would sing the “boom, boom, boom” in the refrain as she always did. Her daughter stared at her.

When Julie looks back at photographs of William and Elizabeth, the professional shots where they’re sitting together, she can see their transformation.

“The first year, they looked right at the camera,” she says. “The second year, she’s looking over to the side, and he’s looking straight on. The third year, we couldn’t get either one of them to look.”

About 30 percent of children with autism go through a regression, losing some of the skills they’ve developed.

“In some children with autism, development looks relatively okay but then begins to derail,” says Dr. Rebecca Landa, director of the Center for Autism and Related Disorders at Baltimore’s Kennedy Krieger Institute. “For some children there are telltale clues at 14 months that help us predict whether the child will have an autism outcome. But it’s hard to predict the kids who are going to have a regression.”

Until recently, some members of the medical community weren’t convinced that children regressed. They argued that parents must have missed the signs.

University of Washington researchers studied 56 home videos of children’s first- and second-birthday parties. Among the findings: They saw two-year-olds with symptoms that hadn’t been visible a year earlier. At 12 months, children diagnosed with regressive autism used complex babbling and words more often than did those with early-onset autism.

“We can screen for autism early, but we have to screen at least until the child is three,” says Dr. Landa. “We don’t want to just screen a child one time around their first birthday and say to a parent, ‘You have a clean slate. Your child will never have autism.’ We’re just not there yet.”

Julie looked for reasons why Elizabeth couldn’t have autism: Speech comes more slowly for twins. Maybe she and William had their own language. Elizabeth had been born with torticollis: Her head was turned in the womb, causing the muscle on one side of her neck to be shorter than the other—and one side of her head was flatter than the other. Maybe that was the problem.

Julie called friends and relatives: “You don’t think this could be autism, do you?”

Elizabeth continued to stand in place and roll her eyes, making Julie wonder if she was having seizures. Julie and Joe took Elizabeth to a neurologist at Children’s Hospital in July 2003, when she was two. Joe waited in the hallway with William.

“Is it okay if I let her run?” Julie asked. Elizabeth ran toward the opposite end of the room, where the doctor was sitting, but didn’t look at him. She stopped and stood still, excitedly clenching her fists, then holding them in place.

The doctor asked Julie, “What’s your take on this?”

“I think it could be autism,” she said, “and I’m hoping it’s not.”

“You’re right,” he said. “It is. I don’t have to do any real tests with her.”

Julie felt sick.

The doctor explained that a typical child would acknowledge he was in the room, and what Elizabeth was doing was a form of self-stimulatory behavior. More behaviors would follow, he said. Elizabeth might walk on her toes or flap her hands.

“She is so beautiful,” the doctor told Julie. “She will bring you so many years of joy.”

Elizabeth is fussy, and Julie can’t figure out why. The swings and pool usually keep her happy in the summer, but she wants something else and can’t tell her mom what it is.

She rubs her hands on her Strawberry Shortcake outfit, meaning she doesn’t want to wear it. The weight and texture of clothing are uncomfortable for Elizabeth, so she likes to walk around naked; sometimes she takes off her diaper. Her dad calls her Miss August.

Julie sewed this outfit herself—as well as four others—with lightweight cotton material. She put the zippers in back so Elizabeth couldn’t take them off.

Elizabeth leads her mom upstairs. Julie pulls a box of Pop-Tarts from the cabinet, but Elizabeth pushes it away. She stands in front of the refrigerator and starts to cry.

“What do you want, baby?” Julie asks. “What can I get for you? A graham cracker?”

She doesn’t want that. Julie picks her up to comfort her, and Elizabeth presses her face against her mom’s, wrapping her mouth around Julie’s chin. Some people who have autism crave deep pressure, the feeling they get from touching or holding. The pressure calms Elizabeth.

“I used to get really upset and frustrated when she’d get this way,” Julie says. “Then I realized it wasn’t helping her any to have two of us crying.”

Elizabeth gives up on the food and walks upstairs to William’s room. She lies on his bed and wraps herself in a sheet, then puts a toy in her mouth and stares at the ceiling fan.

Joe thought the neurologist at Children’s Hospital was wrong about Elizabeth. Some kids are late bloomers or just slow. He didn’t talk to Julie about the diagnosis.

“After a while, there is no denying it, and you have to take a second look at what you’ve been thinking,” Joe says. “It doesn’t happen overnight.”

Julie cried to a woman from her church for two hours. “At least she’s happy,” the woman said of Elizabeth.

What does that mean? Julie thought. At least she’s happy? She may never be able to talk.

Julie had always thought her kids would go to college. She’d pictured Elizabeth in the Little Miss Greenbelt Pageant singing “Somewhere Over the Rainbow.”

Now nobody could tell her what her daughter would be like in five years. There was no prognosis.

How could she have tried so hard to get pregnant and then have this happen?

“I’d be really mad at Joe because he wasn’t as sad as I was,” she says.

Joe lost his mother in his twenties; his father died of a heart attack soon after. Joe had a heart attack at 45, 15 years ago, and overheard a doctor say he had five to ten years to live. He’d learned to cope—turning to religion helped.

Soon after the diagnosis, Julie’s minister asked if she could come over. One day as Elizabeth slept, the minister laid her hands on the girl and prayed.

Julie thought William would be her little Einstein. He could recite the alphabet and count to 25 before he was two.

The plan was for William to start kindergarten at St. Hugh’s, a Catholic school connected to the parish Joe belongs to. William would go to DeMatha High School in Hyattsville, as one of his older half brothers had, then he’d study music or technology.

As Elizabeth was losing her language, William was learning hundreds of new words, like hippopotamus and umbrella. He knew train types: steam engine, diesel engine, gondola, boxcar.

But Julie started noticing oddities in his speech. Sometimes he sounded like a parrot: She’d ask, “Do you want a drink?” He’d respond, “Do you want a drink?” He’d use the same inflections as television characters­—even a British accent. His speech seemed scripted, and he couldn’t hold a conversation.

Julie knew there was a chance William had autism. Studies show that a sibling of someone with autism—including a fraternal twin like William—has an 8-to-10-percent chance of having it. Identical twins have concordance rates as high as 90 percent, one reason researchers are confident that genetics play a role in autism.

Julie started writing down all of William’s words: How could he have a developmental disorder when he knew so much? She thought children with autism couldn’t speak—like Elizabeth.

She worked on flashcards with William as he lay in bed. She taught him the planets’ names and had him count coins until he fell asleep.

Sometimes Julie watched William as he slept. She had read that autistic children were diagnosed before they were three, so every morning she was eager to mark another day off the calendar.

We’ll make it through, she told herself. She felt as if she were sitting with a time bomb.

Most children show signs of autism by the time they’re 18 months old: A child might not gaze into a parent’s eyes, or might not smile back at someone.

“Typically developing babies are very engaged and interested in what you do,” says Dr. Rebecca Landa, who is researching autism in infancy. “Even at six to nine months, babies make an effort to get people’s attention.”

The National Institute of Child Health and Human Development publishes a list of possible “red flags” for autism. Among them: The child has poor eye contact, doesn’t respond to his or her name, doesn’t point or wave “bye-bye,” gets “stuck” doing the same things over and over.

A child doesn’t have to meet all the criteria. Someone can exhibit physical mannerisms and not have autism. Someone can have autism and make good eye contact.

Some parents hesitate to take their children to be screened because they aren’t seeing the “autistic” behaviors they expect. Others don’t want to believe their instincts.

“I wish people would get beyond thinking their child has to be 100-percent perfect,” says Julie. “I think they’re afraid, like I was afraid, to bring it up. If Elizabeth had cut her leg, I would have called a doctor immediately, but instead I see her crying and acting a little off and maybe staring into space—and those things I don’t do anything about.”

Although symptoms of autism typically appear before a child is three, many are diagnosed later. Researchers agree that children benefit from early detection. “We can actually teach two-year-olds with autism,” says Dr. Landa, who authored a study on development of infants with autism, recently published in the Journal of Child Psychology and Psychiatry . If children are diagnosed at 18 or 24 months instead of three or four years old, Landa says, they’re likely to have better outcomes.

Detecting autism in a child like William can be especially hard.

“Some may talk on time and show abilities like learning the alphabet, numbers, and how to match things, and understand cause/effect relationships,” Landa says. “They learn these things at an earlier age than expected, so parents think they’re really gifted.”

As the twins’ third birthday approached, William was still repeating himself and imitating his parents. Sometimes when he was excited, he’d scratch his fingertips on the floor. He didn’t know what to say when other kids talked to him.

Julie knew something was wrong, but she didn’t think it fit the classic description of autism. Neither did Joe.

She asked Joe to take William to a doctor—her husband hadn’t been in the room when Elizabeth was diagnosed.

“I wanted him to feel the same thing I’d felt,” says Julie. “I wanted him to grasp what was going on, because I felt like he was in such denial.”

Joe made an appointment with Dr. Conlon from Children’s Hospital. Julie asked Joe not to tell the doctor about Elizabeth—she didn’t want him making any assumptions.

Conlon said he suspected that William was on the high end of the autism spectrum. With an autism diagnosis, Julie realized, he’d get better services at school. He could be in an autism kindergarten instead of a regular special-education class.

“Part of me never wanted the diagnosis because I thought he just seemed a little quirky,” Julie says. “But if he didn’t get the diagnosis, he’d fall behind.”

Julie knew a mother and father who were fighting their son’s diagnosis and sending him to an expensive private school where he wouldn’t be called autistic. The father had said, “That label will follow him around for the rest of his life.”

After her autism diagnosis, Elizabeth was tested for Fragile X, a genetic disorder resulting from a gene mutation that can cause autism. She had an MRI of her brain, an EEG to rule out epilepsy, and a hearing evaluation. Every test came back negative.

When she was two, Elizabeth spent a year in the infant-and-toddler program at Beltsville’s Frances Fuchs Early Childhood Center before starting an all-day autism program with five other children. Her speech wasn’t improving. She had bladder infections, then kidney problems that went undetected for months because she couldn’t tell her parents what was hurting. She had started running from people—children who do this are often called “elopers”—a habit that scared Julie. Joe cried when he had to put a canopy over Elizabeth’s crib to keep her from getting out.

At school, Elizabeth learned to sort items into piles. She sat in her chair when she was supposed to. She starting using the Picture Exchange Communication System: A teacher showed her cards with pictures of food on them, such as Cheerios, and she was able to pick the one she wanted and hand that card to the teacher. Then the teacher gave her the food she’d asked for. Teachers at school called her “the smiling child.”

Elizabeth’s teacher recommended Floortime, a developmental therapy focused on child-directed interactions, introduced by Bethesda psychiatrist Stanley Greenspan, author of The Child With Special Needs . Greenspan believes that the therapy helps children learn to relate, communicate, and think. A parent or therapist spends 20 to 30 minutes interacting with a child on the floor in a play setting, following the child’s lead.

If Elizabeth wanted to communicate something, she’d have to get Julie’s attention. Floortime would create a back-and-forth.

Julie wants to find a buddy for William, someone he can talk to and learn from. When she sees a friendly child in the grocery store, she’s tempted to ask his parent, “Can he come over?”

William tries to play with Elizabeth, but she ignores him. If he puts his arms around her, she usually walks away.

In July, Julie took them on their first Metro ride, which William enjoyed, but Elizabeth plugged her ears and cried. A fear of sirens used to keep William from going outside; Elizabeth has trouble with loud mechanical noises. Sometimes it’s not the noise that bothers them; it’s the pitch.

Like many children with autism, they don’t like how certain foods look and feel. William likes potato chips, bread, cereal, and cheese and crackers, but the cheese has to be yellow. He stopped eating meat and peanut butter last year, so Julie puts a protein supplement in his milk. He won’t eat bananas, yogurt, or ice cream.

“It’s a texture thing,” Julie says. “He’ll put it in his mouth and start to chew it, and he can’t deal with it. If he watches someone else eating those things, he’ll get sick.”

His favorite meal is McDonald’s fries. Elizabeth won’t keep food on a plate and doesn’t use utensils. She’ll take a handful of William’s fries, eat a few, and throw the rest on the floor.

William occasionally takes his sister’s wrists and pulls her around. “Come on, Liz, come on,” he’ll say. “Ring around the rosie.”

“Joe and I have thought, ‘Should we stop him or shouldn’t we?’ ” Julie says. “We usually let it go until she tries to make him stop. I think it’s important that at least he try, and at least she try.”

When Elizabeth fell in the living room, William started crying: “What happened? What happened?” At school the next day, he said, “Her head. She hit her head. She hit her head. She hurts. She’s crying.”

If Elizabeth sounds as if she’s speaking, William praises her the same way her parents do. “Good talking!” he’ll say.

People tell Julie she’s lucky her kids don’t fight. Sometimes she’d rather they did.

After William was diagnosed in January 2005, he went through a screening and evaluation process called Child Find, which helps identify and refer children who need early intervention or special education.

The Child Find evaluators weren’t convinced William had autism. They placed him in a half-day special-education class at Francis Fuchs, Elizabeth’s school, with students who didn’t have autism. They wanted to see how he’d do.

William clung to Julie for the first week. He dropped to the ground and yelled, “Mommy, Mommy, don’t leave me!”

When Julie took him to Columbia Mall that summer, he couldn’t stop crying because of the noises and lights. A girl who worked there asked, “Does he have autism?”

Julie liked to think it wasn’t that obvious.

“Yes, he does,” she said.

“I could tell,” the girl said. “He doesn’t like those loud noises. Well, he’s still really cute.”

Julie couldn’t understand why people seemed surprised that a child with autism was cute.

At the end of the school year, William was still anxious when his mom dropped him off. He was doing more of his mannerisms—turning his hands inward and rubbing them against his stomach. Julie and Joe asked Dr. Conlon if medication or a change in diet might calm him. Conlon said yes but that medications came with side effects.

They decided they’d wait to see how William did in school that fall in an autism class with Timi Gray, his new teacher.

In the spring of 2005, Julie called Easter Seals to inquire about a program called Family Friends, which pairs older volunteers with families who have children with special needs.

That June, Julie met Ginny Jones, their “family friend.” Ginny, 59, had moved to Bowie and remarried. She didn’t know much about autism but wanted to work with kids.

As soon as they met, Elizabeth held Ginny’s hand and gave her hugs. William was scared—he kept saying “goodbye”—but Ginny assured him she wouldn’t touch him. The following week, William was showing her caterpillars. A week later, he told Julie, “She’s a fun lady.”

Ginny visits once a week. She pushes Elizabeth on the swings. William gets her to play “Sidney the Spider,” a tickling game. He takes pictures on her digital camera—she says he captures things she doesn’t see.

Ginny goes to the kids’ medical appointments with Julie and helps distract them. When Julie was nervous that William was bothering people in a waiting room—she often notices people staring—Ginny said, “Who cares what they think?”

Two summers ago, Julie took William and Elizabeth to Ginny’s house to go swimming. Ginny’s five-year-old granddaughter, Valerie, wanted to play with William.

“Grandma, he won’t talk to me,” she said. “I tried to get him to play, but he won’t.”

“William’s just very shy,” Ginny said. “When he’s ready, he’ll talk to you.”

Valerie walked over and said, “William, it’s okay—you can talk to me. Don’t be shy.” He didn’t say anything.

The next day, William was playing with two Little People toys, pretending they were talking to each other.

He made one say, “Don’t be shy. You can talk to me. Don’t be shy.”

The other responded, “I’m not shy.”

In 1999, Timi Gray was teaching children with disabilities in Prince George’s County when she was selected for a seven-week autism training. The county was creating autism programs and planning to start one at her school. They’d need a teacher.

Gray’s students had speech and language delays as well as learning disabilities. She had never met a child with autism. “They just came out of nowhere,” she says.

Once Gray started teaching kids with autism, she didn’t want to stop: “I would have six kids in the class all going their different ways, all in their own little world. That’s what made it challenging—I wanted to reach them.”

When Gray met William in the summer of 2005, he was shy and anxious. He followed along but rarely took part. He sat quietly. He’d say “fire truck” if he wanted one, but he was too nervous to get it himself.

“There was something about him that I had to get to the bottom of,” Gray says. “I knew he could do things, but I knew he was scared. So if I could just get him to feel comfortable, he’d be fine.”

Julie and Joe each came to the classroom to show William that school was a cool place. During one-on-one drills, Gray noticed that William wasn’t performing simple skills, such as putting beads together.

Julie videotaped William doing those tasks at home.

“He was talking to Julie and doing everything she said and answering her questions,” Gray says.

She started using the same language Julie did, and William recognized it. Gray realized that the tasks on William’s Individualized Education Program, a learning plan given to special-education students, were too easy for him.

“I didn’t push him,” she says. “I just took my time, and slowly he came out.”

Julie often thinks she hears Elizabeth say something, but because the words aren’t clear and her voice is soft, it’s hard to be sure. Elizabeth’s teacher said she talks when she’s frustrated—when a classmate had a ball she wanted, Elizabeth said “ball.” She yelled, “Daddy! Daddy!” during a blood test.

She was sitting at the dining table a year ago when Joe heard her say the first seven letters of the alphabet.

“It was out of the clear blue,” he says. “That’s the way her speech comes. You wonder: What the hell triggered that?”

Doctors tell Julie that the sounds are a good sign. “If she’s able to say it, it’s in there,” Dr. Conlon says, “but why aren’t we able to get it out?”

Julie used to look for the magic bullet. She was inundated by Internet claims: This therapy works! Try this diet!

She researched everything from Applied Behavior Analysis, a widely used set of principles that involves repetition and rewards, to nutritional therapies such as a gluten-and-casein-free diet, which eliminates proteins found in wheat, rye, oats, barley, and dairy products.

She read about “crystal children,” said to be highly sensitive children with penetrating eyes and delayed speech patterns who communicate telepathically.

“I think it’s parents grasping for anything to feel better,” says Julie. “I worry that it’s just a slippery slope away from tarot cards and paying people to come to your home and light candles.”

She saw a story on the Today show in 2003 about a little girl with autism who had starting talking at age three. The girl, Ashley, had been treated at Bethesda’s Spectrum Center, where she participated in the Tomatis Method of Auditory Training. The therapy, introduced in the 1950s by French physician Alfred Tomatis, is designed to reawaken the ear’s ability to listen. Using headphones, Ashley listened to music by Mozart as well as recordings of her mother’s voice, meant to simulate what she had heard in the womb. After two days of therapy, Ashley told her parents, “I want a cookie.”

Julie called the Spectrum Center that morning. She thought: This is my answer.

She signed Elizabeth up for Tomatis, but the $7,000 fee was steep, and insurance wouldn’t cover it. In the end, she and Joe decided against it. The same therapy wouldn’t work for everyone. And what if they found a way to pay for it and nothing changed?

They’re still not sure they made the right decision.

Timi Gray kept a poster on the chalkboard with a picture of every activity William and his four classmates would do that day and a time slot for each: circle time at 10:15, story time at 10:30, bathroom and walk at 11.

“The routine gives them security and stability,” Gray says. “When they come in here, they know what to expect.”

The structure helped William relax at school, but he still threw tantrums with his parents. His life wasn’t as regimented at home as it was at school.

Early in the school year, Gray suggested that Julie try a “first and then” board: Julie drove to places she typically takes the kids—the grocery store, the gas station, McDonald’s, and Target, William’s favorite. She took photographs of each place. She wrote the words “first” and “then” in big letters. She clipped them to the appropriate card.

“First we’re going to go to the gas station, then we’re going to go to the Target,” she told William.

“The anxiety and tantrums went out the window,” Julie says. “That was a wonderful day.”

Soon William didn’t need the cards. Gray encouraged Julie and Joe not to put him on medication—she said a drug might take his personality away.

It wasn’t long until William was waking up in the morning excited for school. “Let’s go see Miss Gray,” he’d say.

He started walking to the playground with a boy in his class. Sometimes he’d pretend he didn’t know an answer, just to see Gray’s reaction.

He picked words up quickly. Gray saw William point to the bottom of the doorway and ask his mother, “What’s that? What’s that?”

The next day at school, he picked up a truck, carried it to the doorway, and rolled it.

“Look, Ms. Gray,” he said. “Garbage truck over the threshold.”

Sometimes Julie has to ask William to stop playing on the Hot Wheels Web site so his sister can use the computer.

Elizabeth likes Reader Rabbit touch-screen games. She puts her face to the monitor and uses Julie’s finger to drag shapes into the spaces where they belong. She gets excited and clenches her fists.

One day last summer, Elizabeth didn’t ask for her mom’s hand. She put her own finger up to the screen and moved the shapes. “So good, Lizzie,” Julie said, tears in her eyes. “So good!”

Julie and Joe are relieved that Elizabeth is making progress again. Last year her teacher didn’t use touch-screen computer programs. She was stern with the kids—behavior Elizabeth wasn’t used to. Julie noticed her daughter changing: She would come home from school with her fingers in her ears and pull away from people.

Julie spent much of the summer doing Floortime with Elizabeth while William went to school with Gray. Every few weeks Julie and Elizabeth went to see Jake Greenspan—Dr. Greenspan’s son—for Floortime therapy sessions and parent coaching. Elizabeth liked having her mom to herself. She started showing Julie what she wanted to play with.

They listened to music and danced. Julie turned song lyrics into rhythms as they jumped up and down on the bed, and Elizabeth bounced to the beat.

Elizabeth started to laugh again as she had before. One morning in September, Julie and Joe awoke at 5 am to a little voice coming from down the hall.

“Twinkle, little, little star,” Elizabeth sang. “Dooka, dooka, dooka doo.”

There is no cure for autism or standard medication to treat it. Medications that treat other disorders—including anxiety, depression, and hyperactivity—can sometimes help alleviate symptoms and behaviors associated with autism. These include Prozac, Zoloft, and Ritalin. Risperdal, an antipsychotic medication, recently became the first drug approved by the FDA for the treatment of behaviors associated with autism in children and teens, including agitation and aggression.

Dr. Stephen Mott, chief of Georgetown University Hospital’s pediatric neurology division, credits the synthetic steriod Prednisone—not commonly used in patients who have autism—with helping nonverbal children start to talk.

Over the past seven years, Mott has prescribed the drug—often used to treat asthma, allergic reactions, and autoimmune diseases—to about 100 patients. Seventy percent showed improvement within eight weeks: Nonverbal children spoke. Patients who couldn’t put words together started using complex sentences. Some made better eye contact. A few bounced back from regressions.

Prednisone can cause serious side effects, including suppression of the immune system. A simple infection could become life-threatening.

Mott mentions Prednisone to patients in his list of treatment options, but he doesn’t push it. “It hasn’t undergone scientific scrutiny,” says Mott, who has treated patients with autism since the early 1990s. “I make that clear to families.”

Do the changes last?

“That’s the big question,” he says. Most patients continued with a lower dose, then the drug was tapered off. Of the 70 percent who improved early on, half later regressed to some degree. The other half kept getting better.

Julie used to wake up in the middle of the night with her heart pounding. She takes over-the-counter medication to help her sleep.

She misses going to church. She stopped because she didn’t feel William and Elizabeth were welcome at the Sunday service, and the church didn’t offer babysitting for special-needs children. Two women changed seats to get away from William.

Still, Julie considers herself fortunate. Some parents of children with autism don’t get to cuddle with them because their children don’t like to interact. Some kids hit people or try to injure themselves. Julie’s kids give her hugs. She’s trying to teach William what it means to say, “I love Daddy.”

The same thing that made her mad at Joe after Elizabeth’s diagnosis is what helps her now—his strength.

“He had a wonderful thing his father once told him,” Julie says. “ ‘You have to take care of your family—that’s just the way it is. You just do it.’ ”

The divorce rate among couples who have a child with a disability is higher than the average; there are estimates as high 80 percent. The stress is sometimes too much. Some spouses disagree on medical treatments.

“It’s hard enough for two people to take care of one disabled child,” Joe says. “Imagine one person taking care of two.”

He and Julie don’t agree on everything. She wanted to buy a harness for Elizabeth—William once ran away, and Julie caught him just before he reached a busy street—but Joe refused.

“He says it makes her look like a child on a leash,” Julie says. “My point is safety.”

Money is tight. Elizabeth and William are on a long waiting list for the Maryland Autism Waiver, which would make them eligible for respite care, medical coverage, and other services. Julie and Joe are hoping the waiver will help cover diaper costs, bars for the windows, and augmentative communication—a method that would allow Elizabeth to arrange pictures on a board to form sentences. They also want a new bedroom door with a Plexiglas window for Elizabeth, so they can close the door at night and let her sleep in a regular bed.

Julie and Joe have had five date-type nights out in five years. Elizabeth needs to be watched carefully: She once took a bite out of a wine glass. She likes banging pictures that have black in the frames.

The Arc of Prince George’s County, an organization that helps people with developmental disabilities, will provide assistance such as reimbursing families for a babysitter, but Julie and Joe say it’s hard to find someone they can trust. Two of William and Elizabeth’s godparents—a couple with whom Julie and Joe hoped to leave the children if something happened to them—stopped calling soon after Elizabeth’s diagnosis.

“Let’s play movies,” William says. It’s a summer afternoon, and he’s eager to sit inside the makeshift theater his mom created—a small tent covered with a bedsheet.

Julie is getting William ready to go see the animated movie Cars with his dad in a real movie theater. The last time William went to a movie, he got scared, and they had to leave. This time Julie wants him to know what to expect.

She crawls around the living-room floor gathering toy cars. “I hope we have all our characters here,” she says. “Nope—we’re missing Porscha.”

“You comfortable?” she asks.

“Comfortable,” William says. “Com­fortable.”

She sets the scene: “William is at the movies. He’s with his daddy. He’s got his popcorn and his soda, and it’s going to get dark.”

She puts her hands under the sheet, as if at a puppet show. She gives each car a different voice and makes up dialogue.

William claps at the end and says, “Let’s watch it again! Let’s watch it again!”

A few weeks later, when Joe opens the door to the theater, William won’t go in. He wants to stay in the hallway. He doesn’t want popcorn.

Joe props the door open and sits in a spot where he and William can see each other. William comes in for previews, then leaves when Cars starts. It’s too loud.

Joe waves to him and checks on him, but he doesn’t want to move.

“Is he okay?” an employee asks

“He’s just a little shy,” Joe says.

William watches from the hallway for an hour before he says, “Let’s go home. I wanna go home.”

Joe’s happy. That’s longer than he’d expected.

At the end of last school year, Julie and Joe gave Ms. Gray a ring with a blue sapphire, the color of William’s eyes.

They’re thrilled with how far William has come since he started working with her and her support staff. He rarely throws tantrums. He went to a birthday party for the first time. He lets someone cut his hair.

When the family vacationed in Wisconsin in August, he went on a carousel and rode with Joe in a go-cart—things that used to terrify him. He won a second-place ribbon in Greenbelt’s Labor Day festival for a photograph he’d taken of a gazebo’s patterned-wood floor.

William made it through three innings of an Orioles game with Joe in September but wanted to leave after a player cracked his bat. He thought the batter would be upset.

“He broke the bat, he broke the bat,” William repeated. The cheering overwhelmed him. Sometimes William confuses his emotions: He’ll cry when good things happen—like when Jeff Gordon, his favorite NASCAR driver, wins a race.

He used to refer to himself as William, but he’s starting to use pronouns. He came home from school in the summer and showed Julie a piece of paper he was supposed to read. It had the words i see my written on it four times, with different pictures to end each sentence. Then he sounded out the words: “I see my backpack.”

When William broke a plastic racecar in September, he told his mom that Elizabeth had done it. He was nervously shifting his weight around.

Julie knew the truth­. She told William it wasn’t right to blame someone else for something he had done. She didn’t let him see how excited she was: He’d fibbed for the first time.

Julie drove William to see his new school, Beltsville Elementary, so he wouldn’t be surprised on the first day.

He talked himself through the change, the same way he’d seen Elmo do it on a back-to-school episode of Sesame Street: “Give Mommy a hug, say goodbye, and she’ll pick me up in the green van,” he said.

Gray told Julie that “self-talking” helps William figure things out. He verbalizes what other people do in their heads.

The first day, Julie put William’s backpack on him and he said goodbye. I can’t believe that just happened, she thought.

Julie came home to an empty house and didn’t know what to do. Elizabeth had taken the bus to her new school—Margaret Brent Regional in New Carrollton, a special-needs school where she can go until she’s 21.

William’s teacher sent home a note that day saying she thought he belonged in a regular kindergarten. He could do the same things other five-year-olds were doing except use the bathroom. William likes to sit, wipe, and flush, but he won’t actually go. His parents and his teachers are working on that.

Julie had hoped to have William in a mainstream class in a year or two, but she didn’t think it would happen so fast. He’d never been around typical kids. “It’s exciting but scary because he’s gone from this little quiet kid throwing up to just being so normal overnight,” says Julie. “It’s a shock. I want to just grab him and say, ‘Are you really sure you’re okay?’ ”

The teacher said the transition would be slow. He would have a classroom aide.

That night Julie told Joe, “We may actually have to think about saving for college.”

Julie has read that many adults with autism don’t marry. Why wouldn’t William get married? she thinks. He’s good-looking, smart, and funny: One morning he got out of bed and told her, “I’m not the Jedi I should be.”

She wonders whether William will live on his own or get a good job. She worries that people will take advantage of Elizabeth because she’s pretty and vulnerable. She and Joe are hopeful that if something happens to them, William can help care for his sister.

There’s no typical path for a teenager with autism. A low-functioning teen, with mild retardation, may continue to exhibit behaviors of a young child. A teen who is high-functioning might do well academically but struggle socially.

“I remember one child who had straight A’s and was an excellent brass player, but he did not have one friend,” Dr. Mott says. “He was fine with that. Some want to know why they don’t have friends and what a friend is, but there are others that are content with solitary behaviors.”

Some teens are teased and bullied. They don’t understand jokes or sarcasm and have trouble processing more than one thing at a time. Others blend in.

“Middle school is particularly hard because kids are getting to be so social,” says Roy Richard Grinker, author of Unstrange Minds: Remapping the World of Autism, out in January. “Kids with the social deficits of autism have a hard time functioning.”

Grinker, a George Washington University professor, has a 15-year-old daughter with autism who attends school in Montgomery County. “High school is much better,” he says. “The kids are more mature. They understand what autism is. The rise of autism awareness isn’t just some sign of crisis—it’s a sign that we’re finally understanding what all these people are like.”

Julie has heard that you can “test out” of autism—which she hopes might happen to William—though she realizes he’ll never actually be cured.

“In our clinic, in a small minority of cases, we will say to people, ‘Your child really no longer meets the criteria for this disorder,’ ” says Dr. Lauren Kenworthy, director of the Center for Autism Spectrum Disorders at Children’s Hospital. “We’re not saying they are perfectly normal right now, but we’re saying they’ve made so much progress.”

Julie recorded the 2006 ESPY Awards, for the best performances in sports, because the award for best moment of the year went to a teenager with autism.

Jason McElwain, a high-school senior who managed the basketball team, made six three-pointers in the last four minutes of a game. His team had a big lead, and the coach asked if he wanted to play. Teammates carried him off the court.

Julie didn’t like the way the media referred to McElwain as an “autistic basketball player.”

“Would you call a child with cancer ‘the cancer child’?” she says.

She watches the show over and over: “Every time I see him, I think he looks like Will, and he has the same enthusiasm.”

She and Joe have met only one adult with autism—a man named Dennis who came to their house to look at a train collection Joe had listed in the paper.

Julie introduced herself, and Dennis averted his eyes. He looked like a college professor. He worked at NASA.

Sometimes Dennis spoke Latin. He talked to Joe about Poland, where Joe’s ancestors are from, and about God.

“He spoke like you could jump into his world and know what he knew,” Julie says. “That’s what William does.”

Julie had an uneasy feeling around him, which made her mad at herself.

Dennis was fascinated when Julie said her kids had autism.

“William, did you ever do this?” he asked, patting his head. “When I was your age, my thing was patting men’s heads. I was told it wasn’t socially acceptable.”

Julie had mixed emotions about the visit. Here was an intelligent man making it in the world. But he was a landscaper.

“When he said he worked at NASA,” Julie says, “I thought he was an engineer.”

The water in Ginny’s pool is cold, but William and Elizabeth don’t mind. William helps blow up his Cars floaties for his arms, gets in, and does his scary shark voice.

“Washing machine!” he says. Ginny lifts him up and down as she sings, “Washing machine, washing machine, we have to make the clothes all clean.”

Elizabeth splashes in the water like any little girl who’s big enough to stand but doesn’t know how to swim. She jumps off a low ledge just as William does. She opens her mouth and keeps swallowing water.

“De-licious!” William says.

When Elizabeth takes her floaties off, William brings them to her. “She needs to have them on,” he says. “Put them on, Lizzie.” Ginny tells Julie to let Elizabeth swim without them: She’ll be fine.

Julie looks around and sees Elizabeth playing without her floaties and William wearing goggles that make his nose look funny.

She can’t stop laughing. It’s the first time she’s felt this relaxed in a while. Her kids are having fun in a swimming pool, doing what kids do.

Cindy Rich
Cindy Rich came to The Washingtonian in 2001 from NBC News. A 1998 graduate of the University of Virginia, her recent stories have included “Something Happened and We Don’t Know Why” (November 2006), “I Never Even Saw Him” (June 2006), “Two Hearts Beating as One” February 2006), “How I Saved My Life” (November 2005), “How Many People Did You Kill?” (August 2005), and “A Warrior in Two Worlds” (September 2004). She is the editor of Washingtonian's wedding guides.Rich has received numerous Dateline Awards from the Washington Society of Professional Journalists, including an award for investigate reporting for her November 2004 story “How Teens are Getting High.” Her January 2003 story “When Jared Stopped Smiling,” about a friend’s suicide, was named a notable essay in The Best American Essays 2004.Rich, who grew up in Montgomery County and went to Walter Johnson High School, lives with her husband in Silver Spring.
13. Dec 2006
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Autism and Childhood Development


Wednesday, April 09, 2008

Average Paternal Age is Very High and In the Danger Zone for Offspring

Average paternal age is very high. Fewer men are fathering babies in their 20s when risk for NEW genetic disorders due to sperm is very low. By 35 men are in the danger zone for having autistic, schizophrenic, Alzheimer's, cancer prone offspring. The numbers of offspring with neurodevelopmental disorders is rising along with the rise in average pateral age. What to do since no one warns the public. Any suggestions would be helpful. Also any ideas as to why, in 1994 the definition of autism was broadened from classical autism.

Are there 'risks' in being an older father?
Whilst the average age of fathering a child is 32, recent figures from the UK's Office for National Statistics show that in 2004 more than 75,000 babies were born to fathers aged 40 and over - more than one in ten of all children born. Further, around 6,489 children a year are born to fathers aged fifty-plus.
According to US-based National Center for Health Statistics, in 2004 about 24 in every 1000 men aged 40 - 44 fathered a child. This is up almost 18% from a decade ago. Meanwhile, only 3 out of every 1,000 men aged 55 and older are fathers to live births.
Whilst the topic of "older fathers" is increasingly making headlines, what is perhaps less well-known is that there can be risks - both physical and mental - associated with fathering offspring later in life.
Recent research revealed that compared to younger dads, fathers in the older age group were more inclined to be less tolerant of their children's physical activities, perceiving them to be more impulsive and overactive. Older dads apparently also show less affection and warmth towards their partner. [Read about this study]
Risk of autism in children born to older dads
A study recently published in the Archives of General Psychiatry concludes that the offspring of older fathers have a significantly increased risk of autism. The team of UK and US researchers said that children born to men over 40 had a six times higher risk than those born to men under 30. They also said the study was further proof men also had "biological clocks".
The mother's age did not appear to influence the chances a child would have autism, although previous studies into this have produced mixed results.
Rare birth disorders and schizophrenia
The incidences of certain rare birth disorders, such as Dwarfism, or achondroplasia (a genetic disorder that affects bone growth and is the most common growth-related birth defect. It occurs in about one in every 25,000 births, affects all races, both males and females and limits their growth to about four feet), are more common amongst births to older fathers. Some of these defects, thought to be new mutations, are only detectable later in life, e.g. schizophrenia.
Researchers at Columbia University College of Physicians and Surgeons found that men aged 50 or over are three times more likely to father a child with schizophrenia compared to men of 25 or under, and men aged between 45 and 49 are twice as likely to have a child with the illness. The researchers estimated that as many as one in four cases of schizophrenia may be caused by the father being old.
The study, published in the Archives of General Psychiatry, looked at records of almost 88,000 people born in Jerusalem between 1964 and 1976, and compared them to data from the Israel Psychiatric Register (part of the Israeli Ministry of Health).
Apert syndrome, which afflicts one in every 70,000 children who are born with fused bones in their heads, hands, and feet, is also linked to the father's age. Men in their 50s and 60s are 10 times as likely to carry and pass along the mutation as men under 30.
Pre-term birth
A study published in the March 2005 issue of Epidemiology, revealed that the risk of preterm birth increases with paternal age. The authors studied couples and their first children, using nationwide registers in Denmark between 1980 and 1996.
Genetic abnormalities & limb defects
Because of the increased risk of genetic abnormalities in the offspring of older fathers, The American Society for Reproductive Medicine has set an upper age limit of 40 years old for semen donors, whilst UK fertility clinics only accept sperm donations from men aged 39 and under.
Research published in November 2005, reveals that men aged 50 and above were more than four times more likely to have a child with Down syndrome and that older men are more likely to have babies with a variety of limb defects. Epidemiologist, Dr Jorn Olsen and his team from the University of California, Los Angeles, used the Danish Fertility Database, which holds information on 70,000 couples and their first born child, to look for differences in children with older fathers.
The finding caused concern among some fertility specialists, who saw the age of sperm donors increase with the government's abolition of sperm donor anonymity earlier this year. "With the change in the law, donors tend to be men who have already had their families," said Allan Pacey, a fertility expert at Sheffield University.
"But about a third of all births in the UK are from men who are older than 35 and, frankly, that's not the best sperm to use in fertility treatment. You want sperm from young, healthy guys that hasn't had time to build up defects."
Dr Olsen reported to New Scientist magazine that whilst the medical risks of starting families older are smaller for older fathers than for women approaching the menopause, the trend of couples starting families later in life means the issue of male age should be taken into consideration.
Research shows that old fathers are three times more likely to take regular responsibility for a young child.
Jack O'Sullivan, Fathers Direct
Sperm quality deteriorates
A study published in June 2006 by Dr Andrew Wyrobek, of the Lawrence Livermore National Laboratory in Livermore, California, found that the genetic quality of sperm deteriorates as a man gets older, becoming steadily more fragmented the older a man gets. DNA fragmentation is associated with greater infertility and a reduction in the chance of conceiving.
Each successive fragmentation introduces a slight risk of error in the genetic material of the new sperm, and this is then passed on to the child. These mutations are tiny and difficult to spot without knowing what mutations to look for. Abnormalities in women's eggs can be picked up more easily, as almost all divisions in a woman's eggs occur before she is born.
Dr Brenda Eskenazi, a co-author of the report, said: "Our research suggests that men, too, have a biological time clock - only it is different. Men seem to have a gradual, rather than an abrupt change in fertility and in the potential ability to produce viable, healthy offspring."
The study included at least 15 men from each age decade spanning 20 to 60 years, and 25 aged 60 to 80. Smokers and men who had fertility problems, or a history of cancer were excluded.
Higher risk of miscarriage
Research published in August 2006 suggests that women who become pregnant by older men are at far greater risk of having a miscarriage. The researchers, from the Columbia University School of Public Health in New York and led by Dr. Karine Kleinhaus, noted that the risk of miscarriage appeared to rise along with the father's age, regardless of how old the mother was. Even after a range of other risk factors which contribute to miscarriage were taken into account, such as smoking during pregnancy and maternal diabetes, the risk was still higher.
The study's authors analysed data from a survey of nearly 14,000 pregnant women undertaken in Jerusalem between 1964 and 1976. 1,500 of those women suffered miscarriages, whilst 12,000 carried their babies to term. The findings were reported in the Journal of Obstetrics & Gynecology.
The risk of losing a baby was 60 per cent higher when the father was aged 40 or over, compared to when he was 25 to 29 years old. It was also about three times greater when the man was aged between 35 and 39 years of age, than if he were younger than 25.
Dr Kleinhaus commented, "As child-bearing is increasingly delayed in Western societies, this study provides important information for people who are planning their families." However, researchers pointed out that despite this generally higher miscarriage rate, older paternal age may only slightly raise the risk to any one couple.
Longer to conceive
A study reported on in July 2000 in Human Reproduction and based on research carried out by teams at Bristol and Brunel universities in the UK, discovered that the older a man is the longer it may take his partner to conceive, regardless of her age. Women with partners five or more years older have less chance of conceiving within a year of trying than those whose partners are the same age, or younger. The odds of conceiving within 6 months of trying decrease by 2% for every year that the man is older than 24 years, and for conception within a year decrease by 3% for each year.
Lower Apgar score
A study published in the July 2006 issue of Epidemiology indicates that new fathers in their 40s and 50s are slightly more likely to have an infant with a low Apgar score than fathers in their 20s. The Apgar score, which was first created in 1952, rates the newborn on five parameters: respiratory effort, heart rate, reflex irritability, muscle tone, and skin color with a value of 0 to 2 (worst to best) for each. Thus, a total score of 10 is optimal. The score is calculated at 1 and 5 minutes after birth.
Statistics on older fathers
Since 1980, there has been about a 40 per cent increase in the number of men between 35 and 50 fathering children and a 20 per cent decrease in the number of fathers under 30. Data from the UK's Office For National Statistics (ONS) reveals that in 1971 the mean age of a father at birth was 27.2 years, but by 1999 this had risen to 30.1. Statistics from 1997 show that whilst the majority of fathers (151,162) were in the 30-34 age group, there were 41,459 fathers aged 40 to 65+ years.
Average age of fathers in Australia now 32.9 years
Australian fathers were an average of 32.9 years old - 2.8 years older than dads with newborns in 1985.


Tuesday, April 08, 2008

Again_ Paternal age is a risk factor for Alzheimer disease in the absence of a major gene

Paternal age is a risk factor for Alzheimer disease in the absence of a major gene
Journal neurogenetics
Publisher Springer Berlin / Heidelberg
ISSN 1364-6745 (Print) 1364-6753 (Online)
Issue Volume 1, Number 4 / August, 1998

PDF (180.7 KB)

Original article
Paternal age is a risk factor for Alzheimer disease in the absence of a major gene
L. Bertram1, R. Busch2, M. Spiegl1, N. T. Lautenschlager1, U. Müller3 and A. Kurz1

(1) Department of Psychiatry, Technical University Munich, Möhlstrasse 26, D-81675 Munich, Germany, DE
(2) Department of Medical Statistics and Epidemiology, Technical University, Munich, Germany, DE
(3) Department of Human Genetics, Justus-Liebig University, Giessen, Germany, DE

ABSTRACT We compared the parental age at birth of patients with Alzheimer disease (AD) with that of cognitively healthy control subjects. Within 206 carefully diagnosed AD patients, two groups were distinguished according to the likelihood of carrying a major gene for AD (MGAD). This likelihood was calculated by applying a Bayesian approach which incorporates data on aggregation of the disease, age at onset, and "censoring" ages within the family. All AD patients were ranked by MGAD probability. According to the sample's quartiles, two subgroups were defined representing the 52 individuals with the lowest and the 52 with the highest MGAD probability. Age at onset of dementia, education, and apolipoprotein E ε  4 allele frequencies were not statistically different between the two groups. Fathers of patients with a low MGAD probability were significantly older (35.7±8.1 years) than fathers of both other groups (high MGAD probability 31.3±6.9 years, P =0.004; controls 32.6±6.8 years, P =0.04, n=50). The differences for mothers were less pronounced and not statistically significant. These findings suggest that increased paternal age is a risk factor for AD in the absence of a major gene, whereas increased maternal age and AD are associated only weakly and independently of genetic disposition.
Key words Alzheimer disease - Risk factors - Parental age - Genetics

Received: February 23, 1998 / Revised and Accepted: May 20, 1998


Sunday, April 06, 2008

Approcximately one third to one quarter of schizophrenia due to paternal age, Dolores Malaspina, MD

What is the most irrefutable finding that you and your colleagues have made?
The most irrefutable finding is our demonstration that a father’s age is a major risk factor for schizophrenia. We were the first group to show that schizophrenia is linearly related to paternal age and that the risk is tripled for the offspring of the oldest groups of fathers.7 This finding has been born out in every single cohort study that has looked at paternal age and the risk for schizophrenia. The only other finding that has been as consistently replicated in schizophrenia research is that there is an increased risk associated with a family history of schizophrenia. Since only 10% to 15% of schizophrenia cases have a family history, family history does However, we think that approximately one third or one quarter of all schizophrenia cases may be attributable to paternal age. Paternal age is the major source of de novo genetic diseases in the human population, which was first described by Penrose8 in the 1950s.not explain much of the population risk for schizophrenia. He hypothesized that this was due to copy errors that arose in the male germ line over the many cycles of sperm cell replications. These mutations accumulate as paternal age advances. After the Penrose report, medical researchers identified scores of sporadic diseases in the offspring of older fathers, suggesting that these could occur from gene mutations. Particular attention was paid to conditions in last-born children. In the 1960s, an excess of schizophrenia in last-born children was also reported.


Myelin-- Schizophrenia and Autism Genes Concerning Myelin Formation are Mutated

Review: 1 Click to change filter selection through MyNCBI.

1: Neurosci Biobehav Rev. 2006;30(4):551-61. Epub 2006 Jan 30.Related Articles, Links
RNA metabolism and dysmyelination in schizophrenia.

McInnes LA, Lauriat TL.

Department of Psychiatry and Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA.

Decreased expression of a subset of oligodendrocyte and myelin-related genes is the most consistent finding among gene expression studies of postmortem brain tissue from subjects with schizophrenia (SCZ), although heritable variants have yet to be found that can explain the bulk of this data. However, expression of the glial gene Quaking (QKI), encoding an RNA binding (RBP) essential for myelination, was recently found to be decreased in SCZ brain. Both oligodendrocyte/myelin related genes, and other RBPs that are known or predicted to be targets of QKI, are also decreased in SCZ. Two different quaking mutant mice share some pathological features in common with SCZ, including decreased expression of myelin-related genes and dysmyelination, without gross destruction of white matter. Therefore, although these mice are not a model of SCZ per se, understanding the similarities and differences in gene expression between brains from these mice and subjects with SCZ could help parse out distinct genetic pathways underlying SCZ.

: Am J Med Genet B Neuropsychiatr Genet. 2006 Jan 5;141(1):84-90.Related Articles, Links
Human QKI, a new candidate gene for schizophrenia involved in myelination.

Aberg K, Saetre P, Lindholm E, Ekholm B, Pettersson U, Adolfsson R, Jazin E.

Department of Evolution, Genomics and Systematics, Uppsala University, Norbyvägen 18D, 752-36 Uppsala, Sweden.

We have previously shown that chromosome 6q25-6q27 includes a susceptibility locus for schizophrenia in a large pedigree from northern Sweden. In this study, we fine-mapped a 10.7 Mb region, included in this locus, using 42 microsatellites or SNP markers. We found a 0.5 Mb haplotype, likely to be inherited identical by decent, within the large family that is shared among the majority of the patients (69%). A gamete competition test of this haplotype in 176 unrelated nuclear families from the same geographical area as the large family showed association to schizophrenia (empirical P-value 0.041). The only gene located in the region, the quaking homolog, KH domain RNA binding (mouse) (QKI), was investigated in human brain autopsies from 55 cases and 55 controls using a high-resolution mRNA expression analysis. Relative mRNA expression levels of two QKI splice variants were clearly downregulated in schizophrenic patients (P-value 0.0004 and 0.03, respectively). The function of QKI has not been studied in humans, but the mouse homolog is involved in neural development and myelination. In conclusion, we present evidence from three unrelated sample-sets that propose the involvement of the QKI gene in schizophrenia. The two family based studies suggest that there may be functional variants of the QKI gene that increase the susceptibility of schizophrenia in northern Sweden, whereas the case-control study suggest that splicing of the gene may be disturbed in schizophrenic patients from other geographical origins. Taken together, we propose QKI as a possible target for functional studies related to the role of myelination in schizophrenia. (c) 2005 Wiley-Liss, Inc.

Published online on April 25, 2006, 10.1073/pnas.0601213103

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Human QKI, a potential regulator of mRNA expression of human oligodendrocyte-related genes involved in schizophrenia
( myelin | quaking | splice variant )

Karolina Åberg *, Peter Saetre , Niclas Jareborg ¶, and Elena Jazin ||
Departments of *Evolution, Genomics and Systematics, and Development and Genetics, Uppsala University, SE-75236 Uppsala, Sweden; and ¶AstraZeneca R&D, SE-15181 Södertälje, Sweden

Communicated by Tomas Hökfelt, Karolinska Institutet, Stockholm, Sweden, February 14, 2006 (received for review September 9, 2005)

The quaking viable mouse mutation (qkv) is a deletion including the 5' regulatory region of the quaking gene (Qki), which causes body tremor and severe dysmyelination in mouse. The function of the human quaking gene, called quaking homolog KH domain RNA-binding (mouse) (QKI), is not well known. We have previously shown that QKI is a new candidate gene for schizophrenia. Here we show that human QKI mRNA levels can account for a high proportion (47%) of normal interindividual mRNA expression variation (and covariation) of six oligodendrocyte-related genes (PLP1, MAG, MBP, TF, SOX10, and CDKN1B) in 55 human brain autopsy samples from individuals without psychiatric diagnoses. In addition, the tightly coexpressed myelin-related genes (PLP1, MAG, and TF) have decreased mRNA levels in 55 schizophrenic patients, as compared with 55 control individuals, and most of this difference (68-96%) can be explained by variation in the relative mRNA levels of QKI-7kb, the same QKI splice variant previously shown to be down-regulated in patients with schizophrenia. Taken together, our results suggest that QKI levels may regulate oligodendrocyte differentiation and maturation in human brain, in a similar way as in mouse. Moreover, we hypothesize that previously observed decreased activity of myelin-related genes in schizophrenia might be caused by disturbed QKI splicing.


Author contributions: K.Å., P.S., and E.J. designed research; K.Å. and P.S. performed research; E.J. contributed new reagents/analytic tools; K.Å., P.S., N.J., and E.J. analyzed data; and K.Å., P.S., N.J., and E.J. wrote the paper.

Conflict of interest statement: No conflicts declared.

K.Å. and P.S. contributed equally to this work.

Present address: Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA 15217.

||To whom correspondence should be addressed.

Elena Jazin, E-mail: elena.jazin@ebc.uu.se