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Usher syndrome

Usher syndrome is a genetic disease causing deaf-blindness. It is essentially progressive retinitis pigmentosa combined with congenital hearing impairment. It is almost always inherited in an autosomal recessive pattern and is estimated to occur in 1 in 10,000 people. Whilst this is a rare genetic condition, it represents the major cause of syndromic deafness with blindness. The condition gets its name from British ophthalmologist, C.H. Usher, who in 1914 wrote a paper describing several cases in which the link between congenital deafness and retinitis pigmentosa was stressed. more...

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Usher syndrome

Usher syndrome is divided into three types, I, II and III. Children with type I syndrome are born profoundly deaf, and eyesight usually begins degrading after the first decade of life, beginning with night-blindness. If identified at a young age, children usually receive a cochlear implant, and generally learn spoken language. Sign language is also sometimes used, though when vision loss becomes severe one must revert to tactile signing. Problems with balance are usually present, due to the failure of the hair cells of the inner ear. Type II children are hard-of-hearing, and changes in sight usually begin later, first becoming noticeable after the second decade of life. In the type III syndrome, hearing loss as well as retinitis pigmentosa can occur later in life.

Usher syndrome I

Worldwide, the estimated prevalence of Usher syndrome type I is 3 to 6 per 100,000 people in the general population.

Mutations in the CDH23, MYO7A, PCDH15, Usher 1C (also known as Harmonin), and USH1G (now identified as SANS) genes cause Usher syndrome type I. Usher syndrome type I can be caused by mutations in one of several different genes. These genes function in the development and maintenance of inner ear structures such as hair cells (stereocilia), which transmit sound and motion signals to the brain. Alterations in these genes can cause an inability to maintain balance (vestibular dysfunction) and hearing loss. The genes also play a role in the development and stability of the retina by influencing the structure and function of both the rod photoreceptor cells and supporting cells called the retinal pigmented epithelium. Mutations that affect the normal function of these genes can result in retinitis pigmentosa and vision loss.

Usher syndrome II

Usher syndrome type II occurs at least as frequently as type I, because type II may be underdiagnosed or more difficult to detect, it could be up to three times as common as type I.

Mutations in the MASS1 (also called VLGR1) and USH2A genes cause Usher syndrome type II. Usher syndrome type II may be caused by mutations in any of three different genes, two of which have been identified to date. These genes are called USH2A and MASS1. Usherin, the protein made by the USH2A gene, is located in supportive tissue in the inner ear and retina. Usherin is critical for the proper development and maintenance of these structures, which may help explain its role in hearing and vision loss. The precise function of the protein made by the MASS1 gene is not yet known.

Usher syndrome III

The frequency of Usher syndrome type III is highest in the Finnish population, but it has been noted rarely in a few other ethnic groups.


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The Empty Nest - how parents can cope with the empty nest syndrome when their children grow up and move out
From Better Homes & Gardens, 5/1/99 by Allison Berryhill

Parents may be caught off guard as the melancholy moves in and the child moves out.

An early-rising child--a 4-year-old and the youngest of my brood--has interrupted my morning. I have nestled him with a sleeping bag onto the recliner, hoping that he'll doze off again, but he's chirping incessantly: "Mom! What comes after eleven? Mom? What's a goat say? MOM!" The rest of my hungry hatchlings will be rising soon, beaks open wide. Their squawking defines my day.

For those of us still surrounded by little ones, the notion of an empty nest seems remote--even fanciful. Envisioning what the future holds is difficult, explains Shelley Bovey, author of The Empty Nest: When Children Leave Home. Parents immersed in child-raising may be caught off guard by the melancholy that sometimes moves in as kids move out.

"I was just too busy to think ahead," says Debbie Tyler, of Rochester, Indiana. Two of Debbie's sons have graduated from high school and the third son will graduate in a year. "It hit me by surprise."

Debbie, a fourth-grade teacher, has plenty to keep her occupied: exercise classes, church work, after-school tutoring. But much of her activity, she feels, is merely filler for the emotional gap that opened as her world-bound children left. "I know it's a new chapter," she says, "and I want them to go and be happy. But I'm sad. I miss them. This is what I always wanted to do--raise a family."

Becky Thompson, mother of Catherine, a 19-year-old, agrees. "It's like losing your parents. No matter how ready you think you are, you're not. When my daughter left for college--and I thought I was ready--I cried every day for two weeks."

That's not to say all parents feel glum when the offspring have sprung. Many feel excited and proud--or relieved--as the conflict and commotion of living with teens gives way to more peace and privacy.

Why is it that some parents seem to breeze through their children's departure while others feel battered by the winds of change? Experts identify a host of factors that contribute to the differing reactions.

Balanced for takeoff. Nancy Schlossberg, professor emeritus in counseling at the University of Maryland, says parents can look to how they've weathered other life transitions for clues to how they'll handle the children-leaving phase.

For example, if your own move from your parents' home was difficult--or if you felt blue weaning your babies, depressed by a career change, or weepy at sending 6-year-olds off to school--you might also expect to feel shaky when the kids pack their bags. Most likely, your empty nest will be a mix of emotions, an awareness that life's possibilities are unfolding--and folding.

While fathers, too, are affected by children's farewells, it is often mothers who have tended to the family's daily caregiving, and whose role is therefore most changed when the children leave home.

Experts agree that low spirits should not be a source of shame. "Count on being sad for a while, maybe a couple of months," says Bovey. "Be gentle to yourself. Pamper yourself." And give yourself some emotional room to breathe. "There have to be silences and spaces between the different phases of development in our lives," she says, "not a frenetic rush from one experience to another."

Bovey speculates that women who have a strong sense of their inherent value (often the result of a positive relationship with their parents) are less inclined to feel troubled by a change in their mothering role. Also, if a woman's other roles are firmly grounded--such as a wife, a friend, or a breadwinner--she is braced to withstand a jolt to her mother-self.

A meaningful career, in particular, may broaden a woman's identity base, but it is no guarantee against empty-nest sadness. Some women--often those who have pursued prestigious, demanding careers--face a special brand of distress at this time; surprised to find themselves unexpectedly resenting their work and second-guessing their life choices.

John Verble, marriage and family counselor in Oak Ridge, Tennessee, identifies good health, friendships, and vision for the future as factors that contribute to serenity in the empty nest. Single parents, or those in struggling marriages, are often hit hard by this midlife transition. And because the leaving of first children and last children are especially emotional times, parents of an only child--who usher out their "first and last" in a single motion--may experience the blow with double force.

Two in the bush. A responsive, satisfying marriage provides support through any of life's transitions, including a child's departure. But a marriage sustains changes during child-rearing years. Bovey explains how on the wedding day, husband and wife stand face-to-face; over the years, children draw our attention outward, away from our spouses. Once the children leave, we turn back to each other--and hope to still recognize the spouse we face.

Some marriages crumble as the nest empties, when attempts to stick it out "for the kids" lose their oomph, and festering difficulties expand as if to fill the vacant halls and closets. But other marriages grow stronger as the partners can devote increased time and energy to building a vital, lively relationship. "This can be an exciting time in a marriage, if the partners are willing to work at it," says Bovey.

Schlossberg suggests initiating an "expectations exchange" to discuss the changes each foresees. If one plans to scale back and simplify while the other dreams of finally living it up, negotiation may be in order.

On your mark... The stress caused by the exiting child may be eased if parents feel their child is ready for the world, according to author and parent Patricia Olson, of Denver, Colorado. In her book, And Suddenly They're Gone, she offers a checklist for parents to consult in preparing kids for the launch. Does your young adult get himself or herself up in the morning, know how to do laundry, make doctor and haircut appointments, manage finances, use a credit card responsibly, and follow his or her own curfew?

Get set ... Schlossberg suggests that parents make specific plans for the first childless days. Bovey reminds parents to treat themselves delicately. Schedule a massage or walk through a favorite park. Have lunch with someone going through the same thing, suggests Verble, or contact an old friend and reconnect.

Go! It's never too soon for parents to begin tracking mentors who have emptied their nests with grace and humor. No two paths will be the same, but looking to parents who have been there can help you map the territory.

Bovey offers advice she wishes she'd been given years ago. Tuck away a treasured dream to pursue later. Consider a potential career, educational pursuit, or an interest from youth that has been nudged out of your life by the bulldozer called parenthood. Bovey herself is now exploring her interest in painting. "At one point, when I was young, I was going to be an artist. I'd almost forgotten that," she says.

Feed the daydream of "someday" when you'll have time and space to unwrap and experience the treasure you've been saving. Until then, listen for the music in the peeping of an early-rising chick.

COPYRIGHT 1999 Meredith Corporation

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