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Smith-Magenis Syndrome

Smith-Magenis Syndrome (SMS) is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate mental retardation, distinctive facial features, sleep disturbances, and behavioral problems. Smith-Magenis syndrome affects at least 1 in 25,000 individuals and has been reported in more than 100 people worldwide. more...

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Most children with Smith-Magenis syndrome have a broad, square-shaped face with deep-set eyes, full cheeks, and a prominent lower jaw. The middle of the face and the bridge of the nose often appear flattened. The mouth tends to turn downward with a full, outward-curving upper lip. These facial differences can be subtle in early childhood, but they typically become coarser and more distinctive in later childhood and adulthood.

Disrupted sleep patterns are characteristic of Smith-Magenis syndrome, typically beginning early in life. Affected people may be very sleepy during the day, but have trouble falling asleep and awaken several times each night.

People with Smith-Magenis syndrome have endearing, engaging personalities, but most also have behavioral problems. These include frequent temper tantrums and outbursts, aggression, anxiety, impulsiveness, and difficulty paying attention. Self-injury, including biting, hitting, head banging, and skin picking, is very common. Repetitive self-hugging is a behavioral trait that may be unique to Smith-Magenis syndrome. People with this condition also compulsively lick their fingers and flip pages of books and magazines (a behavior known as "lick and flip").

Other signs and symptoms of Smith-Magenis syndrome include short stature, abnormal curvature of the spine (scoliosis), reduced sensitivity to pain and temperature, and a hoarse voice. Some people with this disorder have ear abnormalities that lead to hearing loss. Affected individuals may have eye abnormalities that cause nearsightedness (myopia) and other problems with vision. Heart and kidney defects also have been reported in people with Smith-Magenis syndrome, though they are less common.


Smith-Magenis syndrome is typically not inherited. This condition usually results from a genetic change that occurs during the formation of reproductive cells (eggs or sperm) or in early fetal development. People with Smith-Magenis syndrome most often have no history of the condition in their family.

Smith-Magenis syndrome is a chromosomal condition related to chromosome 17, mutations in the RAI1 gene cause Smith-Magenis syndrome. Most people with Smith-Magenis syndrome have a deletion of genetic material from a specific region of chromosome 17. Although this region contains multiple genes, researchers believe that the loss of one particular gene, RAI1, is responsible for most of the characteristic features of this condition. The loss of other genes in the deleted region may help explain why the features of Smith-Magenis syndrome vary among affected individuals.

A small percentage of people with Smith-Magenis syndrome have a mutation in the RAI1 gene instead of a chromosomal deletion. These mutations lead to the production of an abnormal or nonfunctional version of the RAI1 protein. The function of the RAI1 protein is unknown, and researchers are uncertain how a loss of this protein results in the physical, mental, and behavioral problems associated with Smith-Magenis syndrome.


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A worthy garden to help their granddaughter
From Oakland Tribune, 4/12/03 by Elizabeth Jardina, STAFF WRITER

WHEN Achille Paladini was looking for ways to help fund research about his granddaughter's rare genetic disorder, he found the perfect fund-raiser in his own back yard.

And it's not exactly your typical back yard. The space is home to a host of rare and authentic Japanese plants, a 100,000-gallon pond filled with a couple dozen koi and four bridges that lead to a turtle- shaped island and a Zen meditation area.

The Japanese garden, called "Higurashi-en" or "A garden worthy of a day's contemplation," was created between 1887 and 1892 and is on the National Register of Historic Places. The largest privately- owned historic Japanese garden in the United States, it will be open April 25-27 for tours.

Achille and his wife, Joan, open the gardens to the public a few times a year, but they're dedicating this tour to their 10-year-old granddaughter, Samantha Brown of Pleasanton. Samantha suffers from Smith-Magenis syndrome, a deficiency of the 17th chromosome that causes violent temper tantrums, learning disabilities and sleep disruption. She is one of about 300 or so people in the United States who have this disorder.

The garden's original owner was Henry Pike Bowie, a doctor and lawyer who hired Makota Hagiwara, the designer of the Japanese Tea Garden in Golden Gate Park, to plan a tea house and garden on his Hillsborough estate.

Around 1900, Pike sold the property to Eugene de Sabla, president of the Pacific Gas and Electric Company. Subsequently, the estate was split into smaller lots. The tea house -- a one-room architectural marvel crafted of redwood without a single nail -- was expanded into a house.

Over the years, the garden slipped into wildness. Joan says when they moved in 16 years ago, English ivy, Dutch irises and agapanthus had taken over.

"The people who lived in the house before us wanted it to look like Muir Woods," she says.

Remarkably, the Paladinis discovered that the son of de Sabla's original gardener was still alive and living in the area. Tak Obata, now 85, taught Joan much of what she knows about the plants and principles of Japanese gardening. He still comes to the garden monthly to maintain the delicately pruned trees.

The property, including the house, is about an acre, but the large pond in the middle and the garden's many separate areas create the illusion of a bigger space.

Joan, a quick, energetic woman, treasures the original plants from the garden and has worked for 16 years to enrich the variety of plants. A Korean variety of magnolia, a true blue Japanese iris shipped from Japan, a tiny bamboo that looks like shaggy grass and a vine of double-flowered wisteria are among the plants she's added.

She refers to them with feminine pronouns, deeming filigree maples "beautiful girls" and lamenting about a blighted tree, "We're really trying to keep her alive."

"I talk to them, like I talk to my friends or my animals," she says. Complete with their two greyhounds; the koi in the pond -- which all have names; teal-headed mallard ducks who spend their evenings in the pond; and the squirrels, which Joan feeds, the garden teems with animal as well as plant life.

From the Paladinis' pleasant modern patio, a 400-year-old granite bridge leads into the garden itself.

In the back corner is a Zen area -- a full-sized version of the tiny sand-filled desktop Zen gardens that were so popular a few years ago -- backed by a hedge of giant bamboo stalks, each as thick as a man's wrist.

From the Zen garden, winding paths lined with maples and ferns lead to the top of a small hill. From this meditation point, the entire garden unfolds below: the waterfalls, the pond, the 17 varieties of green and purple Japanese maples, the blossoming cherry and

crabapple trees and the deep green camellia bushes, still studded with bright pink winter blooms.

Down the hill, the fern-lined paths lead past a silvery-green, 200- year-old five-needled mikado pine, given to Henry Pike Bowie 100 years ago by the mikado of Japan himself.

Heading into the shade of giant, stately Douglas firs, the path winds to a 4-foot-tall waterfall, framed by a creeping blue spruce. The rushing stream at the waterfall's base can be traversed by skipping along craggy volcanic stones brought from Japan by Bowie.

Past the waterfall, the gravel paths sinew around the pond to a shady area under the canopy of more Douglas firs and a towering Himalayan spruce, the only one in the United States. Although Joan says she can't confirm this, legend has it that Bowie won the tree from San Francisco naturalist John McLaren in a poker game that also included John Muir and Leland Stanford.

Although they can only open the garden to the public a few times a year, Joan says she's glad to do it. "I think it's only fair to share the garden," she says.

Joan and Achille "Kiki" Paladinis' garden will be open from 10 a.m. to 4 p.m. April 25-27. Garden tours will be conducted in small groups. Call (650) 692-2019. Reservations are strongly encouraged. Children must be closely supervised, and tour-goers should wear sensible shoes with non-slip soles. The garden is at 70 De Sabla Road on the border of San Mateo and Hillsborough.

For more information on Smith-Magenis syndrome, visit

You can e-mail Elizabeth Jardina at or call (650) 348-4327.

c2003 ANG Newspapers. Cannot be used or repurposed without prior written permission.
Provided by ProQuest Information and Learning Company. All rights Reserved.

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