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Alpha 1-antitrypsin deficiency
Autism and Aspergers Syndrome
Benign Infantile Epilepsy
Cri du chat
Duchenne Muscular Dystrophy
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Melodie and Melania
Nature of the Genetic Difficulty
Research has shown that patients with angelman syndrome have a mutation in the 15th chromosome region. Genetic testing has shown that in the 15th chromosome there is alteration, about 90%. The remaining 10% can not be genetically researched because they have some unidentified gene mechanism. Angelman syndrome does not cause the persons life to be shortened, they have a normal life span. But certain facial features are obscured, such as a elongated head, always appearing to be smiling, and prolonged laughter. They have delay with growing and learning to speak. They have trouble with keeping their balance, they have all sorts of seizures and trouble with sleeping.
Basis Facts of Disease
The 15th chromosome has a mutation which causes facial features to be obscured. Normally this disorder cannot be found throughout the family history.
-Seizures, usually beginning between 2 and 3 years of age -Stiff or jerky movements -Small head size, with flatness in the back of the head -Crossing of the eyes -Tongue thrusting -Walking with arms up in the air -A lower jaw that juts out -Light pigmentation in hair, skin and eyes
- Fluorescent in situ hybridization (FISH). Checks for missing chromosomes. -Chromosome analysis (karyotyping). Checks for abnormalities in chromosomes.
: -Sleep less; this can be treated with medications - Hyperactivity -Feeding problems when infants
Angelman Syndrome is not noticed immediately, at least 6-12 months of age are certain effects shown. AS is normally identified when a baby cannot not sit up without support, or when they cannot stand up without support. Jitteriness or tremors are present when the child starts to walk, and when the child is able to walk their may be toe walking, lurching forward, or have a jerky gait. Doctors may diagnosis the child with cerebral palsy at first because of similar symptom. But the behaviors of prolonged laughter and constant smiling, point at objects but not speaking will alter the diagnosis. AS needs specific medical treatment, such as:
*Physical Therapy: for walking *Occupational Therapy: To allow the child to learn everyday skills *Constant Behavioral Management & Supervision along with special provisions to be able to be integrated in classrooms. *Speech and Communication Therapy: To help the child learn nonverbal means of communication.
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