Angelman Syndrome

Angelman syndrome, caused by a genetic defect on chromosome 15, includes developmental delay, near absence of speech, and facial abnormalities. The most striking characteristic of someone with Angelman syndrome, though, is the appearance of being happy most of the time, with frequent smiling and prolonged episodes of laughter.

Angelman syndrome may occur in people of all ethnic backgrounds. About 70-75% of individuals born with Angelman syndrome have no family history of the disorder

Symptoms:
Individuals with Angelman syndrome share common characteristics:

* Developmental delay and functional impairment
* Disparity between understanding language and speaking; speaks few or no words; may be able to use nonverbal gestures
* Short attention span, hyperactivity, easily excitable, appears happy, frequent smiling and/or laughing
* Difficulty with movement or balance, including difficulty walking and/or tremors of limbs.

In addition, individuals with Angelman syndrome may have:

* Seizures of any type
* Delayed, disproportionate growth of head in childhood
* Hypopigmented skin and eyes
* Wide mouth, widely-spaced teeth, protruding tongue, drooling, feeding problems and frequently putting things in the mouth during infancy
* Sleep disturbance.

Diagnosis:

Since Angelman syndrome is a genetic disorder, infants are born with it. Parents begin to notice when their child is between 6-12 months of age that developmental milestones are not being met, such as sitting alone without support and standing up. Jitteriness or tremors of the limbs may be present, and once the child begins walking there may be toe-walking, lurching forward, or a jerky gait.

The child may be given the diagnosis of cerebral palsy based on these symptoms. However, the child’s behaviors of constant smiling and laughing, but not talking, point towards a diagnosis of Angelman syndrome. The diagnosis is based on the symptoms present, as there is no specific test for the syndrome.

Treatment:

Specific medical treatment may be needed for problems such as seizures, feeding problems, or sleep disturbance. Physical therapy is helpful for improving walking, and occupational therapy can help the child develop everyday living skills . The child with Angelman syndrome needs consistent behavioral management and supervision, and will require special provisions to be integrated into the classroom. Speech and communication therapy can help the child, if able, to develop nonverbal means of communication and use communication aids such as pictures to express needs. Individuals with Angelman syndrome generally have good health and can be expected to live a normal life span.

Angelman Syndrome Foundation Takes Major Step Toward Furthering Research Efforts
The Angelman Syndrome Foundation, http://www.angelman.org, announced the formation of the Angelman Treatment and Research Institute (ATRI), which will direct the organization's rapidly increasing research funding. The ATRI will also serve as a hub for more than 30 organizations, researchers and scientists worldwide to share discoveries and treatments for this neuro-genetic disorder. The announcement of the ATRI was made during the Angelman Syndrome Foundation's biennial conference in Orlando, Fla.



source: rarediseases.about.com

Antiphospholipid Syndrome (APS)

Antiphospholipid syndrome (APS), also known as 'sticky blood,' is an autoimmune disorder -- the result of the immune system essentially turning on the body and attacking it in error. In the case of APS, the body makes antibodies to its own blood proteins.

Antiphospholipid syndrome can occur in individuals without any associated disease. This is called primary APS. The disorder may also occur with systemic lupus erythematosus (SLE) or another autoimmune disorder. This is called secondary APS

Symptoms of Antiphospholipid Syndrome
Along with the antibodies, the body begins producing blood clots. The blood clots can block arteries and veins, cutting off blood supply to a part of the body. The symptoms the individual experiences come from the location(s) and effects of the blood clots:

1.Veins or arteries of the arms or legs - Clots may cause pain, swelling, numbness, tingling in the hands or feet, or leg ulcers. If the blood supply was completely cut off to a part, such as a toe, the individual could lose the toe.

2. Arteries of the heart - Clots may cause chest pain or heart attack. The individual may also have a heart murmur or heart valve problems.

3. Blood vessels of the skin - Clots may cause bruises (purpura) or a blotchy, purplish rash called livedo reticularis.

4. lood vessels of the brain - A clot that cuts off blood supply to a part of the brain causes a stroke. An individual with APS may also experience migraine headaches or seizures.

5. Placenta during pregnancy - Women with APS may have frequent miscarriages or premature births.

The most serious form of antiphospholipid syndrome, called catastrophic APS, occurs when many internal organs develop blood clots over a period of days to weeks.

Diagnosis of Antiphospholipid Syndrome
Diagnosis of antiphospholipid syndrome relies on characteristic symptoms and signs, plus laboratory tests. If an individual has had blood clots in the legs without any other possible cause, for example, APS may be to blame. A blood test for anticardiolipin antibodies can help confirm the diagnosis. Other abnormal test results, such as decreased platelets or anemia, may be present. A computed tomography (CT) scan or magnetic resonance imaging (MRI) can confirm the presence of blood clots.

Treatment of Antiphospholipid Syndrome
Treatment for antiphospholipid syndrome is based on the individual's symptoms. Catastrophic APS requires hospitalization. Some individuals who have characteristic antibodies but no symptoms of APS may be started on daily low-dose aspirin to help reduce the risk of blood clots forming. If a blood clot is discovered, the person is started on anticoagulant medication such as Coumadin (warfarin) or Lovenox (enoxaparin).

With medication and lifestyle modifications (such as avoiding long periods of inactivity in which clots can form in the legs), most people with primary antiphospholipid syndrome lead normal, healthy lives. Those who have secondary APS may have additional problems due to their underlying rheumatic or autoimmune conditions.


source: rarediseases.about.com

Inherited Ataxia Disorders

Ataxia Telangiectasia
Affects central nervous system, eyes, skin, and immunity

Ataxia telangiectasia is a genetic disorder that affects the central nervous system, the eyes, skin, and immune system. Ataxia telangiectasia affects both males and females and has been estimated to occur 1 in 40,000-50,000 individuals.

Symptoms:

1. Central Nervous System: loss of muscle control, leading to swaying of the head and trunk on standing; by age 10 children often need a wheelchair.
2.Skin: tiny red lesions, like spider veins, appear at the corners of the eyes and spread.
3. Immune System: impaired immune system leaves child open to recurrent respiratory infections.

Other symptoms may include delayed growth, difficulty speaking or swallowing, and dry coarse hair (which may be partly gray) and skin. About 20% of children with ataxia telangiectasia develop cancer such as leukemia or Hodgkin's lymphoma.

Diagnosis
Diagnosis is based on the symptoms the child has, especially the poor muscle control and the tiny red lesions on the eyes and face. The gene for ataxia telangiectasia has been identified, so genetic testing can be done to verify the diagnosis. Children are usually diagnosed sometime in early childhood (between ages 2-1/2 to 7 years old).

Treatment
There is at present no cure for ataxia telangiectasia, or way to slow down the progress of the disease. Treatment is aimed at relieving symptoms and trying to prevent respiratory infections, which are often the cause of death. Unfortunately, the outlook isn't very good; children with the disorder generally do not live beyond their teens or early 20s.

source: rarediseases.about.com

Asperger Syndrome

Definition: Rediscovered as a diagnosis in the 1980's, Asperger Syndrome is at the high end of the autism spectrum. Individuals with Asperger Syndrome may be very bright and capable, but may also have serious difficulties with social interaction, or have unusually low tolerance for loud noise, bright lights, crowds, etc. Because it is relatively mild, Asperger Syndrome is often diagnosed in older children and even adults. It is sometimes called the "Little Professor Syndrome" or "Geek Syndrome."

Pronunciation: ahs-perg-er sin-drom
Also Known As: Asperger's Syndrome, AS, Little Professor Syndrome, Geek Syndrome
Alternate Spellings: Asperger's Syndrome

Researchers believe both Albert Einstein and Isaac Newton may have had Asperger syndrome, a developmental disorder in the autism spectrum. Professor Simon Baron-Cohen, of the Autism Research Centre at Cambridge University, and Ioan James, of Oxford University, studied the behavior of both famous scientists. The researchers felt Einstein and Newton displayed personality traits characteristic of Asperger syndrome.

Asperger a recent diagnosis
Although the behaviors known as Asperger syndrome were first described in the 1940s, the diagnosis was not officially recognized until 1994. Since Einstein and Newton lived before then, it is difficult to come to a definitive answer, since neither can be questioned or examined now.

Behavior:
1. Limited but intense range of interest, especially specific intellectual areas.
2. Difficulty in social relationships, especially responding appropriately to others.
3. Problems communicating, such as difficulty making conversation or understanding others

The researchers pointed out that Einstein was a loner as a child and often repeated sentences obsessively until he was seven years old. His career was centered on complex mathematical topics. He gave very confusing lectures.

As for Newton, the researchers noted that he hardly spoke, had few friends and was often bad-tempered around them. He often became so engrossed in his work (the science of physics) that he forgot to eat. He always gave his scheduled lectures, even if no one came.

Others not convinced
Others feel that the case is weak for the diagnosis of Asperger syndrome for either scientist. "One can imagine geniuses who are socially inept and yet not remotely autistic," said Dr. Glen Elliott, a psychiatrist at the University of California at San Francisco, in an interview published by BBC News. Without Einstein or Newton here to ask, it's difficult to be certain.