Word: maxed
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...Wheelers at the MIND (for Medical Investigation of Neurodevelopmental Disorders) Institute at the University of California at Davis, where they arrived with Max, now 7, his brother Brockton, 10, and Cari's parents Mary and Gary Boyer. It was one of many visits for the Wheeler-Boyer clan. Max raced around a visitors' room, occasionally hugging his mom and trying to pull his beloved granddad up from his chair. Mildly autistic and mildly retarded, Max doesn't speak much, and he didn't respond to my overtures. In addition, Max suffers from hyperactivity, low muscle tone, gastrointestinal problems...
...Max wasn't the only one in the room struggling with a worrisome condition. His grandfather Gary, 70, sat stiffly in his chair, tuning in to and out of the conversation. An architect with a Ph.D. in urban engineering, he has developed a tremor in his left hand, and he's so unsteady on his feet that he's taken several falls. "My legs are gone," he says. "I'm very numb from the knees down." Perhaps more alarming are the changes in his personality. The first sign was hoarding household items. "Then I started noticing that he became antisocial...
...years ago, no one would have connected Max's autism and other symptoms with Gary's neurological decline or Cari's premature signs of menopause. Now, however, researchers realize that all three are caused by changes in the same gene, one that's related to a disorder called fragile X syndrome (FXS), perhaps the most complicated genetic condition you've never heard of. Max has full-blown FXS. The disorder, as its name implies, is the result of a defective gene on the X chromosome, one of the pair of chromosomes that determines gender. FXS affects roughly...
...addition, new research has revealed that relatives who carry the fragile X trait, like Max's mother and grandfather, may themselves be affected by it. At the National Institutes of Health (NIH), a new panel has been charged by Congress to direct research into FXS and related conditions. "We hope to learn lessons that may be applicable to helping people with Huntington's disease, Alzheimer's and myotonic dystrophies too," says Tiina Urv, who heads the panel. Research on the FXS family of disorders may also yield clues to some forms of infertility...
Cari, for instance, has one normal X chromosome (with 24 repeats), inherited from her mother, and another with an abnormal 85 repeats, inherited from her father, who has 89 repeats. Cari's son Max has 363. Any number greater than 200 causes full-blown fragile X syndrome (so named because, under a microscope, the expanded X chromosome may look bent to the point of breaking). The reason boys are more likely than girls to develop major symptoms is that girls carry a pair of X chromosomes, which means that if one is defective, the other can compensate. Boys, however, carry...