The physical features seen in male FXS patients include elongated faces, large ears, prominent forehead, midfacial hypoplasia, protruding jaw, hyperextensible hands, mitral valve prolapse and macro-orchidism. Facial features in affected females are far more variable. Neurobehavioral abnormalities can vary greatly from individual to individual, and some FXS children may show relatively normal developmental milestones for the first few years of life. Indeed, many such children remain undiagnosed until the first few years of language development or formal education. IQ actually seems to decrease between ages 5 and 20 in FXS patients, with visual-spatial and sequential processing skills being most affected.
Family history is sometimes positive for mood disorders.
As our case history revealed, FSX cannot be detected via a standard chromosomal preparation, as would have been likely in the mid-1980s. Treatment of FSX has included folic acid administration and the use of psychostimulants. Special education for speech and language deficits and behavioral management techniques have also been helpful. Dr. Pies is a Clinical Professor of Psychiatry at Tufts University School of Medicine, and a lecturer on psychiatry at Harvard Medical School. American Psychiatric Press Inc. References 1.