'Cat Cry' Syndrome Often Undiagnosed

Taylor Towers of Beavercreek, Ohio, is 12 and has cri du chat syndrome.

(Courtesy of Jolene Towers)

Cri du Chat 'Nothing to Do' With Murder

At 20, Katie is "high-functioning," able to read at a fifth-grade level and enjoys animals, knock-knock jokes and comedy films. Like others, she has lost the distinctive "cat cry," but still speaks in a high-pitched voice that can be difficult to understand and has difficulty with her fine-motor skills.

Katie's progress might not have been possible had Castillo, 48, not joined the 5p- Society in 1996. "For the first six years, I thought, 'I can handle this, I can do this without talking to others.'"

But at her first conference, she found an "instant connection" with others. "Gosh, we are all alike," she said. "We have the same feelings and attitudes and want the same for our children."

One of those other parents was Jolene Towers of Beavercreek, Ohio, who is president of the 5p- Society board and whose daughter Taylor struggles with the same communication problems.

Cat Cry Becomes 'High-Pitched Whine'

At 12, Taylor still retains a "high-pitched whine," according to her mother. "But we get used to it."

Taylor was born with wide-spread eyes and a small jaw and when she let out her first cry, the obstetrician said, "What was that?"

"I thought it was kind of cute," said Towers. Once, when Taylor had a "blow up" in a store, the manager allowed Towers to go into the back and change the baby. But soon, "the workers came running in because they thought a cat had gotten in to the store."

Today, Taylor walks and talks, using some sign language and a picture book to let her family know her needs. She has even joined a special needs cheerleading team.

"She has typical friends and does things with them," said Towers, 34, a stay-at-home mother. "It's good for her to be around them to model their behavior."

Having three younger siblings helps, too. Taylor is nearly 90 percent potty trained and her 2-year-old brother is going through the same thing. "It's interesting to watch," she said. "They remind each other."

Having a sister with cri du chat helps them, too, said Towers. "She has taught her brothers to be tolerant and accepting, which is great for our family. But she is definitely challenging at times."

Early diagnosis and intervention is important for children like Katie and Taylor, according to Dr. Shashikant Kulkarni, director of cyto-genetics at St. Louis Children's Hospital and Washington University School of Medicine.

"Through education and rehabilitation, their social adjustment can be considerably improved," he told ABCNews.com.

The larger the chromosomal deletion, the more severe disabilities. New diagnostic tools allow geneticists can pick up even the smallest chromosomal defect so children can be helped.

About 10 percent of the time parents are carriers of the syndrome, which can also be detected in prenatal testing, like an amniocentisis.