Auditory Processing Disorder (APD) is a complex problem. The term is used by many people, in very different ways. There is research underway to help understand this disorder. There also is research to investigate therapies that will help individuals who may have an auditory processing disorder. As you will read, it will take a team of experienced professionals to diagnose and treat a true APD. Two organizations certify many of the professional  Read More

DOOR syndrome is a rare genetic disorder that may be recognized shortly after birth. "DOOR," an acronym for characteristic abnormalities associated with the syndrome, stands for (D)eafness due to a defect of the inner ear or auditory nerve (sensorineural hearing loss); (O)nychodystrophy or malformation of the nails; (O)steodystrophy, meaning malformation of certain bones; and mild to profound mental (R)etardation. In addition, in some cases, a  Read More

Metachromatic leukodystrophy-MLD is also known as Greenfield’s disease. Metachromatic leukodystrophy is a lysosomal storage disease, wherein the myelin sheath that covers most of the nerve fibers of the central and peripheral nervous systems gets damaged. 1. The deficiency of the lysosomal enzyme arylsulfatase A - ARSA or its sphingolipid activator protein B -SapB results in MLD or greenfield disease.  Read More

Keratitis ichthyosis deafness (KID) syndrome is a rare, genetic, multi-system disorder. It is characterized by defects of the surface of the corneas (keratitis), red, rough thickened plaques of skin (erythrokeratoderma) and sensorineural deafness or severe hearing impairment. The skin on the palms of the hands and soles of the feet and the nails may be affected. KID syndrome belongs to a group of skin disorders marked by dry, scaly skin known  Read More

Jervell and Lange-Nielsen syndrome (JLNS) is a rare inherited disorder characterized by deafness present at birth (congenital) occurring in association with abnormalities affecting the electrical system of the heart. The severity of cardiac symptoms associated with JLNS varies from case to case. Some individuals may have no apparent symptoms (asymptomatic); others may develop abnormally increased heartbeats (tachyarrhythmias) resulting in epis  Read More