Frances H. Barnett, MD
Specialty: Genetic Medicine
- genetic medicine
- family medicine
Location and Office HoursFrances H Barnett MD
980 Hwy 28 Ste 104
Jasper, TN 37347
- BlueCross BlueShield
- BlueCross BlueShield of Tennessee
- First Health
- Great-West Healthcare Cigna
- United Healthcare
- Grandview Medical Center
What are genetic diseases?
"Genetic diseases" are those that can be inherited from our parents or sometimes can arise with new changes in one's DNA at the time of conception. Some diseases are single-gene disorders that arise from a problem in one gene, for example cystic fibrosis. Genetic diseases can involve entire or partial sections of ones chromosomes. Chromosomes contain many genes. For example, Down syndrome occurs as a result of an extra chromosome 21.Helpful? 1 person found this helpful.
What are pervasive developmental disorders (PDDs)?
Pervasive developmental disorders (PDD) are a group of disorders characterized by delays in the development of socialization and communication skills. These disorders are present at birth, but the signs of the disorders usually are noticed during a child's first 3 years of life.
Pervasive developmental disorders include autism, Rett's disorder (or syndrome), Asperger's syndrome (or disorder), childhood disintegrative disorder (CDD), and pervasive developmental disorders not otherwise specified (PDD-NOS). Pervasive developmental disorders may also be called autism spectrum disorder.
The severity of pervasive developmental disorders varies by individual. Treatment for these disorders includes behavioral training, speech and occupational therapy, and parent education and support.
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What are the symptoms of mucopolysaccharidosis?
Each type of mucopolysaccharidosis differs in clinical presentation and has varying degrees of severity. All types have a period of normal growth that is followed by a decline in physical and mental functioning.
Common physical symptoms include thickened lips and skin, an enlarged tongue and mouth, abnormal bone size and shape, joint pain and stiffness, corneal clouding, hernias, and short stature. Organs may also be enlarged, specifically the liver and spleen.
Neurological symptoms may occur in some types of MPS. Decreased intellectual capacity, hyperactivity, delirium, and aggressive behavior are often clinical signs.
Effects on breathing function include sleep apnea, obstructive airway disease, chronic respiratory infections, enlarged tonsils and adenoids, and noisy and difficult breathing.
Heart abnormalities may be more common in some types of MPS than others. These abnormalities may consist of valve defects, thickening and stiffening of the heart wall, and narrowing of blood vessels.
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