Chủ Nhật, 13 tháng 10, 2013

Williams Syndrome – Symptoms, Causes, Treatment, Facts, Life Expectancy, Pictures

Williams Syndrome – Symptoms, Causes, Treatment, Facts, Life Expectancy, Pictures

What is Williams Syndrome?


This is a disorder that is genetic and is very rare leading to problems with development.








Those parents with children who have this disorder may not have had any family history of this problem. But, anyone with this syndrome has approximately a 50% chance of the disorder being passed along to every one of her or his children. The cause normally occurs randomly.


Williams Syndrome Symptoms


Signs and symptoms of this disorder include the following:



  • Speech which is delayed but later might turn into strong speaking and learning abilities by hearing.

  • Attention deficit disorder.

  • Development that is delayed.

  • Feeding problems such as reflux, colic as well as vomiting

  • Learning disorders.

  • Inward bend of small finger known as clinodactyly.

  • Mental retardation that is moderate to mild.

  • Short when compared to rest of family

  • Personality traits which can include being overly friendly, trusting of strangers, fear of loud sounds or contact that is physical and interested in music.

  • Appearance of the face that is unusual

  • Sunken chest known as pectus excavatum

  • Ridges in the skin that are long and run from the upper lip to the nose

  • Flattened nose bridge with upturned nose that is small

  • Open mouth with prominent lips

  • Defective tooth enamel, partially missing teeth or widely spaced, small teeth

  • Skin the covers the inner corner of the eyes

  • Narrowing of blood vessels including pulmonary stenosis, supravalvular as well as pulmonary artery stenosis

  • Blood calcium levels that are too high and can cause rigid muscles or seizures

  • Farsightedness

  • Blood pressure that is high

  • Joints that are slack that can change to stiffness as the individual gets older

  • Unusual pattern in iris of the eyes

  • Difficulty it weight gain during infancy

  • Prevalence of light eye dominance and left handedness

  • High levels of anxiety

  • Gastrointestinal problems

  • Hormone problems

  • Signs of hypothyroidism in childhood

  • Diabetes in adults


Williams Syndrome Causes


The main cause for this syndrome is the omission of approximately 26 genes from the #7 chromosome. This is a disorder that effects neurodevelopment and is very rare in incidents. One of the missing genes by the name of ELN is the code for the protein Elastin. The absence of this gene results in abnormalities of connective tissue as well as cardiovascular disease. Other genes get deleted that are responsible for visual-spatial activities causing visual as well as visual-spatial processing problems. Genes coding for behavioral skills as well as cognitive skills are also affected.


Complications that can develop with the syndrome consist of:


Loss of hearing
The majority of individuals with this syndrome normally experience hearing loss which is mild to moderate and is caused by the disturbed functioning of the auditory nerve. In several cases this hearing loss can begin in late childhood.


Diabetes
The majority of individuals with this syndrome will develop diabetes or pre-diabetes by thirty years of age. Pre-diabetes develops when an individual’s blood sugar level is higher than standard but not so high as to make a diagnosis of diabetes.


Heart failure
Individuals with William syndrome have amplified risk of having heart failure, which is a degenerative problem that happens because the heart is not able to beat proficiently in order to pump the blood, the body’s needs. Heart failure is a long-term problem that normally worsens over time.


Supravalvar aortic stenosis or SVAS
This is a type of heart problem that is common among individuals with Williams syndrome. The problem causes the aorta to narrow over time and without treatment, SVAS can cause chest pain, shortness of breath as well as heart failure.


High blood pressure
Individuals with this syndrome also have an increased risk of developing high blood pressure. This is due to the blood vessels being narrower than normal.


Williams Syndrome Treatment


General
Therapy that is prompt as well as diagnosis made early enables some individuals to live on their own when they are adults, while there are others who will probably need support lifelong. There are several ways for individuals to handle their incapacities. Special Ed as well as occupational therapy improves these individuals’ school and work routine.
Individuals will need to regularly see their physician as well as a cardiologist to observe their situation as well as help to avoid any complications.



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Childhood programs for intervention
Individuals with this syndrome normally experience intellectual as well as physical delays in development. For example, it might take a toddler with this syndrome much longer to walk or crawl than it would a healthy child. So their caregivers will need to ask the physician about programs for early intervention. These programs are specially developed to aid babies as well as young children to develop language, motor as well as social skills. Education and therapy that is appropriate can also aid children with the accomplishments of living daily.


Education
Individuals with this syndrome who undergo learning or intellectual disabilities absolutely must have contact to education which is personalized to their individual weaknesses and strengths. Programs of education will vary between individuals. Generally, the majority of experts accept that children that are disabled need to be educated with their non-disabled peers. There is this theory that non-disabled students will aid the individual in learning the correct social, language as well as behavioral skills. So many individuals with this syndrome are educated in regular classrooms. Others go to public school but take instead Special Ed classes. Others go to schools that specialize in teaching individuals with disabilities.


Therapy for behavior
This therapy is valuable. There are numerous types of therapy for behavior available to aid those with Williams syndrome improve social as well as communication skills, and adaptive and learning behaviors. Therapy can help as well reduce behaviors that are negative, for instance temper tantrums, aggression or hyperactivity. The evidence has shown that therapy for behavior is effective the most when begun early in life.


Therapy for speech and language
Those with this syndrome may be aided from therapy for language and speech due to the fact that these individuals develop skills for communication much slower than is normal. When these individuals learn skills in communication, they normally go on to develop very strong abilities to speak as they grow older. The fact is that they use very expressive vocabulary and learn unusual and new words extremely fast. These programs are special-tailored to the individual’s needs.


Physical therapy
This therapy helps individuals with this syndrome expand their coordination, balance, joint mobility as well as muscle strength.


Surgery
Surgery is normally done to treat “supravalvar aortic stenosis” in individuals with this syndrome. If this artery is shaped like an hourglass, the part that is narrowed will be covered with a patch. If this narrowing spreads thru out the aorta, the aortic arch as well as the ascending aorta may need to be reconstructed with what is known as tube graft replacement. .


Williams Syndrome Facts


Williams syndrome is a very rare genetic disorder affecting 1 in approximately every 20,000 births each year. It affects females and males equally. To decide if an individual has this syndrome, a test known as a FISH test is done to show if there is any gene deletion in chromosome #7. FISH stands for “fluorescent in situ hybridization”. The test shows the amount of genetic material that is gone. There is a growing theory that those with Williams syndrome might not have the deletion that is classic. It is believed that instead of deletion there is some sort of inversion in the chromosome.


There are no 2 individuals who have this syndrome who have the exact same problems.


The symptoms and signs of Williams syndrome were first identified by Dr. J.C.P. Williams in New Zealand in 1961.


Williams Syndrome Life Expectancy


Most individuals with this syndrome master learning self-help skills as well as finish academic or/and vocational schools. They work in many settings and some have the ability to live in housing that is supervised or on their own.


Life expectancy for these individuals is normal except if there is a heart defect that is serious.









Williams Syndrome Pictures


williams syndrome pictures

williams syndrome pictures

williams syndrome pictures

williams syndrome pictures


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