'Cat Cry' Syndrome Often Undiagnosed

Oct. 13, 2008 — -- In 1988, Katie Castillo was born with the cord around her neck, so when she uttered her first cry -- a high-pitched, catlike shriek -- the girl's mother thought her baby's larynx had been bruised.

As a first-time mother who'd had a normal pregnancy, Laura Castillo of Lakewood, Calif., never suspected anything more serious.

"When she cried, I mentioned, 'She sounds just like a kitten,'" she told ABCNews.com. "She meowed and it wasn't a very strong cry."

Nurses wrote down Castillo's comments, also noting the baby's head was small and her reflexes were slow. Three hours later, suspicious doctors ordered genetic testing.

Katie was diagnosed with "cri du chat," which in French means "cry of the cat," an array of physical and mental impairments caused by a deletion on the short arm (p) of the fifth chromosome (5) -- also called 5p- (five-p-minus) syndrome.

"The first thing I did was cry," said Castillo, a school athletic director and now director of the 5p- Society, which provides support and education to families whose children have cri du chat syndrome.

Years ago, these children were institutionalized, but today, with intervention programs, they can lead productive lives and have a normal life expectancy.

Cri du chat syndrome -- which strikes about one in 50,000 babies, about 50 to 60 babies a year in the United States -- is most often detected in infancy because of its characteristic "high, shrill, mewing, kittenlike cry," according to the National Organization for Rare Diseases.

The condition was in the spotlight last week when Kentucky mother Hope Orwick killed herself after she stabbed to death her two daughters, one of whom had cri du chat.

Orwick, and her late husband Christopher, who committed suicide before the Oct. 7 murder, had been "very supportive" of the 5p- Society, according to Castillo.

"I think it's difficult to have a child with a disability," said Castillo, who had met Orwick at a conference. "There's a lot to go through. But I can't imagine [cri du chat] had anything to do with it."

Children with the syndrome have difficulty with speech and may express themselves with sign language or gestures. Nearly all have poor muscle tone and can experience feeding difficulties, delays in walking, hyperactivity, scoliosis, and significant intellectual impairment.

But with attention and support, these children, who have better "receptive" than "expressive" intelligence, enrich the lives of their families, according to Castillo.

"They have a good sense of humor and kind of get it," she said. "They are very loving and want to be part of everything."