Mutations in a gene called ADNP result in a distinct syndrome that includes autism, intellectual disability and problems with the gut, eyes, heart and brain, according to a new study. The results flesh out the clinical characteristics of one of the more common autism syndromes.
The researchers characterized the effects of mutations in this gene in 78 people. These individuals also have behavioral problems, distinctive facial features and low muscle tone. “This is one of the first rare-disease studies that extensively describes a cohort of sufficient size,” says lead researcher Frank Kooy.
All of the participants have intellectual disability, and about half are severely affected; 93 percent have autism traits and 67 percent have an autism diagnosis.
More than 75 percent of the participants have some combination of problems with digestion, behavior and muscle tone; between 50 and 75 percent have lazy eye or other visual problems, sleep problems and frequent infections; and between 25 and 50 percent have heart conditions, ear, nose and throat problems, and urinary and genital defects.
The large number of medical issues is surprising, Kooy says, as is their diversity. “For any given type of effect, it’s rare that two patients have the same abnormality,” he says.
Follow-up studies should determine the developmental course of the syndrome and better define the problems that affect each organ system, Kooy says.
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