Lesser Known Disorders
Each issue of this series contains at least three lesser known disorders. Some of these disorders may contain subtypes which will also be presented. You will also notice that each disorder has a code. These codes represent the coding system for all disabilities and disorders listed in the Educator’s Diagnostic Manual(EDM) Wiley Publications.
Disorders in this issue:
OHI 6.00-Angelman Syndrome
Disability Category: Other Health Impaired
Definition
Angelman syndrome is a chromosomal (gene-linked) disease that causes neurological problems. The physician Harold Angelman first identified the syndrome in 1965, when he described several children in his practice as having “flat heads, jerky movements, protruding tongues, and bouts of laughter.” Infants with Angelman syndrome appear normal at birth, but begin to have feeding problems at 1–2 months and noticeable developmental delays by 6 to 12 months (National Institute of Neurological Disorders and Stroke, 2005d).
Diagnostic Symptoms
- Diagnostic symptoms of Angelman Syndrome include (Williams & Driscoll, 2005):
- Normal prenatal and birth history, normal head circumference at birth, no major birth defects
- Normal metabolic, hematologic, and chemical laboratory profiles
- Structurally normal brain by MRI or CT, although mild cortical atrophy or dysmyelination may be observed
- Delayed attainment of developmental milestones without loss of skills
- Evidence of developmental delay by six to 12 months of age, eventually classified as severe
- Speech impairment, with minimal to no use of words; receptive language skills and nonverbal communication skills are higher than expressive language skills
- Movement or balance disorder, usually ataxia of gait and/or tremulous movement of the limbs
- Behavioral uniqueness, including any combination of frequent laughter/smiling; apparent happy demeanor; excitability, often with hand-flapping movements; hypermotoric behavior; short attention span
Further Key Points
Most individuals with Angelman syndrome will have severe developmental delays, speech limitations, and problems with walking and staying upright. Early diagnosis and tailored interventions and therapies help improve quality of life. Angelman Syndrome (AS) has confused the medical community and parents of Angelman children for hundreds of years. Initially presumed to be rare, it is now believed thousands of Angelman Syndrome cases have gone undiagnosed or misdiagnosed as cerebral palsy, autism or other childhood disorders (Angelman Syndrome Foundation, 2004).
OHI 10.03 von Willebrand Disease
Disability Category: Other Health Impaired
Definition
Von Willebrand disease is an inherited bleeding disorder. Children born with the disease have one or both of the following: (1) low levels of a protein that helps the blood to clot and/or (2) the protein does not work as it should.
This clotting protein is called von Willebrand factor. When some of this factor is missing or defective it can cause prolonged bleeding after an injury or accident (National Heart, Lung, and Blood Institute, 2004).
Explanation
- The signs and symptoms depend on the type and severity of the disease. Some people have the gene for the disease but do not have bleeding symptoms.
Patients with Type 1 and Type 2 disease may have the following mild to moderate bleeding symptoms: - Easy bruising
- Nosebleeds
- Bleeding from the gums after a dental procedure
- Heavy menstrual bleeding in women
- Blood in their stools (from bleeding in the intestines or stomach)
- Blood in their urine (from bleeding in the kidneys or bladder)
- Excessive bleeding after a cut or other accident
- Excessive bleeding after surgery.
- Heavy menstrual bleeding is the most common symptom in women. If untreated, it can lead to iron deficiency and anemia. Doctors usually test for the disease in women who have heavy menstrual bleeding. Some people may only be diagnosed after an episode of prolonged bleeding after an accident or surgery (National Heart, Lung, and Blood Institute, 2004).
OHI 11.05a Burkitt’s lymphoma
Disability Category: Other Health Impaired
Definition
A type of non-Hodgkin’s lymphoma. In Americans, the usual site is the abdomen. Age range is 2–16 years.
OHI 11.05b Hodgkin’s disease
Hodgkin’s disease is a cancer that tends to affect the lymph nodes that are close to the body’s surface, such as those in the neck, armpit, or groin area. Occurs mainly in young adults and in people over age 65 but can affect teenagers and children. Lymphomas are the third most common childhood cancer. Rare under age 5.
OHI 11.05c Non-Hodgkin’s lymphoma
In children, non-Hodgkin’s lymphoma affects lymph nodes that are found deeper in the body. The bowel is the most frequent spot, often in the area next to the appendix, or in the upper part of the chest. Occurs most often in ages 10 to 20 and is unusual under age 3.
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