Wednesday, May 30, 2007

Fragile X Syndrome

Fragile X syndrome, called Martin-Bell syndrome, is a genetic disorder and is the most common form of inherited mental retardation. It is a sex-linked genetic abnormality in which a mother is a carrier, transmitting the disorder to her sons. It affects approximately 1 in every 1,000 to 2,000 male individuals, and the female carrier frequency may be substantially higher. Males afflicted with this syndrome typically have a moderate to severe form of intellectual handicap. Females may also be affected but generally have a mild form of impairment.

Approximately 15% to 20% of those with Fragile X Syndrome exhibit autistic-type behaviors, such as poor eye contact, hand-flapping or odd gesture movements, hand-biting, and poor sensory skills. Behavior problems and speech/language delay are common features of Fragile X Syndrome.

People with Fragile X syndrome also have a number of recognizable physical features, including a high arched palate, strabismus (lazy eye), large ears, long face, large testicles in males, poor muscle tone, flat feet, and sometimes mild, heart valve abnormalities. Although most individuals with Fragile X syndrome have a characteristic 'look' (long face and large ears), there are some who do not have typical features.

Many hospitals and laboratories perform blood tests to diagnose Fragile X syndrome. Several treatments are recommended for individuals with this disorder, including mild medications for behavior problems and therapies for speech and language and sensory improvement. Also, families are advised to seek genetic counseling to understand the inheritable nature of Fragile X Syndrome and to discuss with family members the likelihood other individuals or future offspring may have this disorder.

Williams Syndrome: New UD Study May Shed Light On Rare Genetic Disorder-And Normal Development

Children with Williams Syndrome are delightful and engaging, with elfin-like features and often-extraordinary verbal skills but severe spatial deficits, and a new University of Delaware study may reveal the cognitive impacts of the rare genetic disorder.

"Understanding the details of the cognitive profile in this syndrome will likely be extremely complex," says Barbara Landau, a professor of psychology and director of UD's Language and Cognition Laboratory. "But ultimately, it will shed light on how brain and cognitive development become compromised by small genetic defects. This, in turn, will enhance our understanding of how normal development occurs."

The musical and verbal skills of children with Williams Syndrome are extraordinary. But when they see a circle that is half red and half green, they are at a loss to replicate it. They may correctly select a red crayon and a green one, but their drawings will not even remotely resemble the original two-tone circle.

A recent report on "60 Minutes" described a similar grown-up who can sing nearly 2,000 songs memorized in more than 20 foreign languages, yet is unable to solve simple mathematical problems.

Such are the mystifying intellectual discrepancies of those diagnosed with Williams Syndrome. First recognized as a separate syndrome in 1961, it has only been in the last 30 years that persons with Williams have been recognized as a group with a unique cognitive profile.

In particular, individuals with Williams Syndrome have very large discrepancies across their cognitive abilities. One striking discrepancy is that between language and spatial skills: Their language is, in many ways, quite normal, but they show profound deficiencies in certain spatial skills. Landau, an expert in the field of spatial cognition, was intrigued by this riddle.

With her colleague James Hoffman, a professor of psychology, and her team of graduate and undergraduate researchers, Landau recently received a $59,208 grant from the National Office of the March of Dimes to study spatial language and spatial congnition in Williams Syndrome. Further funding from the National Institutes of Health and the National Science Foundation is pending, she says.

"We look at space and language and see what goes wrong," Landau explains. "We're looking at the relationship between the children's spatial abilities and language learning--how they talk about space."

It's quite possible, Landau says, "that you could carry on a conversation with a child with Williams Syndrome and not realize that anything is wrong. When they are just chatting, their normal interactions using language are very good. They are so personable, sweet and friendly--and so competent in many ways--that it often covers up the fact that they have a very uneven profile of cognitive abilities."

When tasks involving spatial relationships come into play, however, the limitations of Williams Syndrome become evident.

"When we ask the children to describe direction and motion, they have problems," Landau says. "For example, if a normal child watches a doll jump into a bowl (an animated video event), they might say, 'The doll jumped into the bowl.' But, when a Williams Syndrome child views the same event, they do not describe the event using the same complex verbs and prepositions. Instead, they might say, 'The doll went down.' This simplification may be due to faulty spatial perception (that is, they might not have perceived the event in the same way as the normal child), or it might be faulty language (that is, they might have difficulty learning rich spatial language)."

Most likely, Landau says, "it is some combination of the two. It might be hard to learn to talk about space if you have difficulty conceptualizing it."

Similarly, those with Williams Syndrome have difficulty describing the location of a dot, relative to a square. Explaining that the dot is above or below the square isn't easy for them, and they often make errors, unlike normally developing children.

And, while moving a mouse on a computer seems simple for children with Williams Syndrome, when they try to replicate block patterns on a computer screen they fail.

"This is very interesting, as it suggests that certain spatial skills (e.g. coordinating a mouse and a computer image) are intact, but that other skills (e.g. copying a pattern) are profoundly impaired," Laudau says.

"The children are very persistent and can tell you what they've done is not right, but they don't know exactly what's wrong," she added.

Another interesting contrast can be found by examining how the children search space for hidden objects. Although they are impaired when asked to copy patterns, they do not seem to become disoriented in space. When asked to find a coin hidden under one of several cups on a table, the children do so quite easily--even if they have moved from one place to another between the hiding event and the finding event.

The two activities "suggest real differences in the kinds of intellectual abilities that are compromised and the kinds that are spared," Landau says. "Obviously, not every spatial capacity shows a deficit.

"This is not just retardation, this is something unusual," Landau asserts. Landau and her research team have used some of the March of Dimes funding to purchase a special eye-tracker that records the children's eye movements as they perform spatial tasks. The tiny camera is hidden in a cap that the children wear, and this allows them to freely move their head, body and eyes. The purchase of this special piece of equipment also was supported by matching funds from UD.

The children in the study will wear the cap when trying to replicate the block patterns on the computer. Tracking their eye movements may yield some clue as to what is happening in their brains as they try and fail the simple exercises.

By understanding the nature of the spatial deficits, the researchers hope to understand what parts of language go uncompromised in Williams Syndrome. Such research could lead to a better understanding of how to educate people who have the syndrome.

Forty-five families who have children with Williams Syndrome, ages 7-14, responded to a letter Landau sent asking for volunteers. Names were provided by the Williams Syndrome Association in Connecticut.

Landau says the work is still in the preliminary stages, and will likely continue over a period of years.

Friday, May 25, 2007

A mother’s love knows no bounds

Publish Date: 5/12/2007

A mother’s love knows no bounds

Being a mother is exciting.

But sometimes it can be hard, especially when the child has a rare disease.

Janet Trujillo’s journey with her daughter, Sheri Lynn, began 28 years ago.

At first, she didn’t notice the baby’s problems, but at 6-months old Trujillo knew something was wrong.

“I noticed she was having developmental problems,” Trujillo said. “She wasn’t lifting her head, rolling over, crawling or any of the normal developmental phases.”

At 12 months, when Sheri was still in a fetal infant stage, Trujillo took her to the pediatrician, who sent them to a neurologist, but he had no idea what was wrong.

At age 2, Sheri began having grand mall seizures and may have had small ones in her sleep. Trujillo said the hardest part was dealing with the sleep disorder.

“The younger children only sleep two hours over a 24-hour period,” she said. “Sheri was about 8 when she started sleeping six hours a night, and now she’s up to eight hours on a good night.”

Because of this, Trujillo and her husband, Joe, had to work and sleep in shifts because Sheri was so active and screamed because she didn’t want to be alone.

“It was a very frightening stage because she didn’t know what was going on,” she said. “The doctors didn’t either. They said some kind of neurological damage, some kind of severe retardation, some type of seizure problem, but they didn’t know.”

When Sheri was 12, Trujillo was given a magazine article describing the symptoms of what could have been Sheri’s double.

“We took the article and Sheri back to her pediatrician and she had a blood test at Stanford University. They confirmed that she had this chromosome No. 15 deletion,” Trujillo said. “Sheri was born with a genetic disorder called Angelman Syndrome.”

The disease is when a chromosome actually has been deleted. People are born with hundreds of matching pairs of X and Y chromosomes, but when one of them is missing, it causes this condition.

“There are 23 characteristics of Angelman’s,” Trujillo said. “Sheri is atypical. She has all of the conditions. Most individuals only have eight to 10 of the features.”

Over the years, she had seizures and was treated for that, had surgery to correct her lazy eye and spinal fusions to help the scoliosis, Trujillo said.

“She is severely retarded, which is one of the conditions,” Trujillo said. “She has an understanding comprehension of a 3-year-old. She’s nonverbal and cannot speak.”

But she does make pre-speech sounds, such as “mama” or “dada.”

“We communicate by pointing and making sounds,” Trujillo said. “We have a language that only she and I can understand and a few caretakers.”

Angelman Syndrome has become known as the Puppet syndrome because children, who are diagnosed with it, “walk on their toes with their hands in the air trying to hold their balance,” Trujillo said. “They look like puppets on strings, marionettes.”

People with the syndrome have similar characteristics, no matter what their race.

“They all have a round flat face and a flat back of their skull,” Trujillo said. “They all look like they’re related.”

It wasn’t easy when the neurologist saw her once, evaluated her and suggested she be sent to a state institution.

“He said she was hopeless. We should forget about her and start a new family,” Trujillo said. “We decided to keep her at home. I grew up in a medical background family. My husband did, too, and we decided this gentleman just didn’t know what he was talking about even though he was the head of Children’s Hospital in Oakland, Calif.

The disease was discovered in the 1960s by Dr. Angelman.

“There are less than 1,000 in the United States,” Trujillo said.

In spite of the difficulties, Trujillo said she loves her daughter just the same.

“It’s one of those tough love things when you have to lay down ground rules for her safety,” she said.

Sheri likes to go to the malls and see people. When Trujillo is at home, Sheri enjoys helping her make cookies, color while Trujillo creates crafts and spending one-on-one time with each other while communicating without saying a word.

Sheri is enrolled in a daycare program at Starpoint four days a week 48 hours a week with a caretaker, “so I can continue to do my community service and work she’s a full-time resident at home.”

And this Mother’s Day, Trujillo will celebrate it at home with her daughter, Sheri.

“She’s our social butterfly, she said. “You meet Sheri, and she falls in love with you, and you fall in love with her. She’s very warm and loving.”

Charlotte Burrous can be reached at

Sunday, May 20, 2007

Fragile X Syndrome the video

This documentary explores the joys and hardships a single mother faces as she raises her 3 adult sons all diagnosed with the rare disorder "fragile x" syndrome. The purpose of this documentary is to introduce the audience to the Kluke family, and to learn more about this genetic condition, see how it affects and impacts the lives of those involved This documentary explores the joys and hardships a single mother faces as she raises her 3 adult sons all diagnosed with the rare disorder "fragile x" syndrome. The purpose of this documentary is to introduce the audience to the Kluke family, and to learn more about this genetic condition, see how it affects and impacts the lives of those involved. The main goal of this documentary is to educate the public and promote a general awareness in an entertaining fashion.

Angelman Syndrome

Angelman Syndrome is not considered a subtype of autism, but individuals suffering from this disorder exhibit many behaviors characteristic of autism.

They are also sometimes given a secondary diagnosis of autism. In 1965,

Harry Angelman, M.D., an English physician, was the first to describe a group of individuals with similar behavioral and physical similarities, which was later termed 'Angelman Syndrome.'

For many of these individuals, a small portion of chromosome 15 is missing; and this appears to be from the maternal side. Interestingly, when a small portion of chromosome 15 is missing and is from the paternal side, the child may suffer from Prader-Willi Syndrome.

Similar to autism, individuals with Angelman Syndrome display the following behaviors: hand-flapping, little or no speech, attention deficits, hyperactivity, feeding and sleeping problems, and delays in motor development. These individuals may also engage in biting and hair pulling.

In contrast to autism, people with Angelman Syndrome are often described as very sociable. They are very affectionate and engage in frequent laughing. The majority of these individuals have abnormal EEG's and epilepsy. Many tend to have a stiff-legged gait and jerky body movements. These individuals also have common facial features, such as a wide smiling mouth, a thin upper lip, and deep set eyes. More than half have low levels of pigmentation in their eyes, hair, and skin.

The prevalence rate of Angelman Syndrome is estimated to be 1 in 25,000 individuals, and the majority of these individuals are described as severely mentally retarded.

Suggested interventions for Angelman Syndrome include:

behavior modification

speech therapy

occupational therapy

Autism Related Disorders

The following are all Autism Related Disorders:

Prader Willi Syndrome



Angelman Syndrome

Fragile X Syndrome

Landau-Kleffner Syndrome

Retts Syndrome

Williams Syndrome