How to Identify Williams Syndrome in your child
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Home » Children » How to Identify Williams Syndrome in your child
How to Identify Williams Syndrome in your child
Williams Syndrome was named after Dr. J.C.P. Williams.
Recently more than 6500 people across the country participated in ‘walking for Williams’ on May 14, 2011 to raise awareness for Williams syndrome.
Williams syndrome is caused by the spontaneous deletion of 26-28 genes on chromosome #7. When conception takes place, the elastin gene deletion accounts for many of the physical features of Williams syndrome. Some medical and developmental problems are probably caused by deletions of additional genetic material near the elastin gene on chromosome #7. William syndrome is not considered to be inherited because of its random selection.
Children have distinctive physical characteristics, they have elfin facial features such as upturned noses, wide mouth with full lips, widely spaced eyes, small chin, irregular spaced teeth and slightly puffy cheeks.
At birth they may have a low birth weight and have difficulty feeding and gaining weight. Calcium levels may be high but usually stops at 3 years of age. It becomes clear these children have developmental problems especially when they may not talk until they are three.
Problems arise with learning disabilities, coordination and balance. They may have high energy levels and talk excessively, often inappropriately, and being overactive, sleep becomes a challenge.
Adults and older children with Williams syndrome often excel in intellectual areas, such as speech, long term memory and social skills while fine motor and spatial relations show weakness. Children and adults with Williams syndrome are sensitive and very polite. Children have no fear of strangers resulting in more contact with adults and less with their peers. They have sensitive hearing and are easily startled, making higher noise frequencies often painful.
One of the first signs of Williams syndrome is heart or blood vessel problems. Part of the aorta or the pulmonary arteries has narrowed, causing a heart murmur. If the narrowing is not severe, regular monitoring is needed, if not surgery is required. They tend to be susceptible to high blood pressure when the blood vessels are narrowed.
Williams syndrome is confirmed by a blood test that identifies the missing part of chromosome 7. A diagnostic test of the DNA detects the elastin deletion on chromosome #7 in more than 98% of individuals with Williams syndrome.
Adults and children with Williams syndrome will have many medical problems and need the expertise of health and educational professionals to be involved in their care. If your child has just been diagnosed with Williams syndrome seek medical attention immediately, starting with whatever physical or disability your child is having. Monitoring for potential problems is necessary and should be conducted by a physician familiar with Williams syndrome challenges.
Tips & Warnings
Williams syndrome is a unique condition and there are organizations out there who lend supportive information. One of them is the The Williams Syndrome Association (WSA)they help to locate individuals with the syndrome and their families to aid them in acquiring accurate medical and educational information. They offer support through yearly regional conferences and social gatherings, quarterly newsletters and biennial conventions.
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Parents of children with Asperger’s syndrome often look into the future and wonder if their child will ever be able to marry. According to Tony Atwood, author of The Complete Guide to Asperger’s Syndrome, the answer is yes. He states that a man or woman with Asperger’s syndrome can develop personal relationships and become a life-long partner.
Marriage Partners and Asperger’s Syndrome
A person with Asperger’s syndrome will normally marry someone who does not have the condition. In spite of their difficulties with social skills and expressing emotion, an Asperger’s syndrome partner can be a good marriage partner. This is especially true if he or she is aware of their diagnosis and have worked on it with therapists. Their natural strengths serve to enhance the marriage and in some cases, this is enough to carry the relationship through difficult patches.
Potential Problems in Asperger’s Syndrome Marriages
Courtship and the early days of marriage often go well and males with Asperger’s syndrome often come across as the strong silent type. Problems may arise as time passes and weaknesses come to the surface. These include emotional immaturity, the inability to socialize and the inability or reluctance to show affection. The non-Asperger’s syndrome partner ends up feeling lonely, neglected and affection-deprived. This is often hard for the Asperger’s syndrome partner to grasp as he or she will express love more practically than physically.
An Asperger’s syndrome person is often attracted to a marriage partner who is the organized or mothering type. He or she recognizes that they need someone to watch out for them and keep them focused in the right direction. This can also lead to problems between couples.
Women in particular may attract predators and as their social skills are weak, they do not realize that the man is not good for them. They may marry and be subjected to a life of misery with an abusive man.
Strengths that Asperger’s Syndrome People Bring to Marriage
People with Asperger’s syndrome have many positive traits. They have strong moral values and will be faithful to a marriage partner. They are also honest, reliable, determined and kind. While their marriage may lack in hugs and affectionate words, the Asperger’s syndrome partner is in it for the long haul. This combined with marriage therapy is often the saving grace of the relationship.
People with Asperger’s syndrome do marry and many of their marriages are long-lasting. While they have weaknesses, they also bring strengths to a relationship and with understanding and counseling, they often live long happy lives alongside their non- Asperger’s syndrome partner.
The Complete Guide to Asperger’s Syndrome, Tony Attwood, Jessica Kingsley Publishers, 2008
Chronic fatigue syndrome
Chronic fatigue syndrome is a condition whose causes are still not fully understood. It can result from various causes that may have little similarity with each other, yet the symptoms that are observed may be similar.
An overview of Chronic fatigue syndrome
Chronic fatigue syndrome is a condition of persistent debilitating fatigue that produces severe distress apart from interfering with working as well as daily activities. It is not a single disease, but a condition of fatigue and generalised debility that is diagnosed as chronic fatigue syndrome depending upon the satisfaction of certain criteria.
By definition, it should have persisted or recurred a few times over a period of six months, it should not be a result of a specific medical cause, and is associated with a number of symptoms like headaches, sore throat, muscle ache, joint pains, sleep disturbances, tenderness in lymph nodes and mood and sleep disturbances.
Causes of chronic fatigue syndrome
The causes for chronic fatigue syndrome are still not fully understood. While various researchers and medical experts have attempted to associate this condition with various causes from time to time, there is still no consensus regarding the exact cause or the manner in which those causes lead to chronic fatigue syndrome.
The available information suggests a few likely causes.
(i) INFECTIONS Chronic fatigue syndrome commonly develops for the first time as part of some infective disease or event, or it may develop immediately following it. Among the infections that are commonly seen to be associated with it are viruses like Ebstein bar virus, Cytomegalovirus, human herpes virus, retroviruses or enteroviruses. It can also be associated with fungal infections like Candida albicans, or bacterial infections from Mycoplasma species. It is also associated commonly with Infectious Mononucleosis.
(ii) IMMUNOLOGIC DISTURBANCES Many persons diagnosed with chronic fatigue syndrome are known to have immunological disturbances in their earlier life or childhood. Some researchers have suggested the possibility of auto-immune diseases, where the body’s own immunity leads to damage of body tissues. However, the medical evidence available is not enough.
(iii) NEURO-PSYCHOLOGICAL COMPONENTS The frequency of many neurological and psychiatric symptoms in persons diagnosed as having chronic fatigue syndrome, has suggested that this condition may have a psychiatric component. Depression is a very common feature, observed in almost two third of patients. Other notable symptoms are sleep disturbances and mood deviations, which raise this possibility.
(iv) DISAUTONOMIA Another cause thought to be involved in the genesis of chronic fatigue syndrome is a disturbance in the autonomic neurological system, which is responsible for maintaining the upright posture, the tone of the body and the ability of the body to relax. Disturbances in it can create a feeling of fatigue that may interfere with the working.
(v) HORMONAL DISTURBANCES Another reason that has been considered as a cause of chronic fatigue syndrome is disturbances in the hormonal system of the body, which is controlled by two parts of the brain the hypothalamus and the pituitary. The pituitary is a gland in the lower part of brain that secretes some hormones which in turn control many other hormones of the body. The pituitary, in turn is controlled by the hypothalamus. This hypothalamus pituitary axis controls most of the hormones secreted in body, and a disturbance in this axis can create many problems that may manifest as a variety of symptoms including fatigue.
Study of possible reasons and causes for chronic fatigue syndrome continues. It is possible that this condition may be a result of more than one cause, which makes the identification and confirmation of its causes all the more difficult.
FULL LENGTH DVD AVAILABLE FOR PURCHASE AT: www.trisomyfilms.com Rene is on FaceBook!! www.facebook.com PLAY THIS INSTANTLY ON NETFLIX NOW!! ADD IT TO YOUR QUEUE HERE: www.netflix.com … PART 1 OF 2. © 2000. UP SYNDROME won the Grand Prize at director Kevin “Clerks” Smith’s Movies Askew contest in 2006 and screened at the Slamdance Film Festival 2001. This is a shortened version of a longer 82-minute film titled UP SYNDROME, which is a multi-award-winning documentary that has garnered international acclaim as one of the most honest portrayals of Down’s Syndrome ever committed to film. Synopsis: “University of Texas student Duane Graves chronicles his charismatic childhood chum Rene Moreno, a San Antonio native with Down Syndrome, in this playful, stirring, remarkably unique portrait documentary.” Look for their other short works on their YouTube channel at www.youtube.com/dignan00 or visit www.greeksproductions.com for more information! TAGS: down’s syndrome down view askew san antonio texas alamo spurs pee wee herman kevin smith clerks award corky life goes on
Video Rating: 4 / 5
Guillain-Barre syndrome, also known as acute idiopathic polyneuritis, is an autoimmune disorder that targets the body’s nervous system. In Guillain-Barre syndrome, the immune system mistakenly targets the nerves surrounding the brain and spinal cord, according to New York University. According to the American Academy of Family Physicians, Guillain-Barre syndrome is very rare, occurring at rates lower than two out of every 100,000 people. The symptoms of Guillain-Barre syndrome include muscle weakness, pain, and difficulty walking.
The causes of Guillain-Barre syndrome remain elusive. The Mayo Clinic outlines certain risk factors which are sometimes associated with the disorder. More than half of people with Guillain-Barre syndrome were suffering from a lung or digestive infection in the immediate time before becoming afflicted. However, Guillain-Barre syndrome occurs in only a small fraction of such cases. It has also been observed after catching various other viruses including Epstein-Barr, mono, HIV, and the herpes virus.
The symptoms of Guillain-Barre syndrome are severe and can develop rapidly. According to the University of Maryland Medical Center, the condition can take anywhere between a matter of hours and a matter of weeks to develop. Muscles become weak, bordering on paralysis. Early symptoms of Guillain-Barre syndrome include pain that is often concentrated in the lower back, weakness and numbness in the legs, and trouble walking. As the condition progresses, this loss of muscle function spreads throughout the limbs and muscle reflexes are impaired.
In most cases, the worst symptoms of Guillain-Barre syndrome develop after a couple of weeks. The worst cases can cause near total paralysis, difficulty breathing, reduced heart rate, and falling blood pressure. The condition is very dangerous and medical attention should be sought immediately when these symptoms appear.
Treatments for Guillain-Barre syndrome vary depending on the severity of the case and the medical history of the patient. According to the Hershey Medical Center at Penn State University, plasmaphersis, a treatment involving filtering of the blood, is a common intervention. Physical therapy can also be effective in patients who develop paralysis. The University of Chicago reports that the outlook of Guillain-Barre syndrome is actually fairly positive. Most people who develop the condition wind up experiencing a full recovery within a matter of months, though some can take years to fully recover.
Guillain-Barre syndrome is an autoimmune disorder that strikes the nervous system. Muscle function and feeling can become impaired, even resulting in borderline paralysis in the worst cases. The condition can develop rapidly, sometimes presenting its most paralyzing symptoms within mere hours. Talk to your doctor about any questions about Guillain-Barre syndrome, the conditions associated with its development, its symptoms, and treatments for the condition.
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Prader-Willi Syndrome is referred to as a genetic disorder that causes life-threatening obesity problems for children and continues into adulthood. According to the Prader-Willi Syndrome Association, the syndrome is caused by an abnormality on the 15th chromosome. Most estimates of the relevance among children is 1 in 15,000 will have this syndrome.
Prader-Willi Syndrome symptoms consist of undeveloped muscle tone; height is short in stature, undeveloped sexually and a chronic feeling of constant hunger. Most children diagnosed with this syndrome have low IQ’s and learning disabilities. As they grow older they could just eat themselves to death literally to fulfill the constant feeling of hunger. Most children diagnosed with Prader-Willi Syndrome have to take growth hormones to combat the limited muscle tone and growth. Parents have to monitor their child’s daily eating because the feeling of being hungry is a constant battle. The constant battle children diagnosed with this disease is that they never feel full. Prader-Willi Syndrome can cause serious health problems for children as they grow into adulthood. Morbid obesity is very common as well as high diabetes, hypertension not to mention the slow development of cognitive skills.
There’s no cure for Prader-Willi Syndrome at this time, but parents can help control some of the issues associated with the disease such as helping them learn and watch what they eat. Also, it’s critical to have your child see a doctor so that their growth and motor skills can be monitored by a professional. Parents that have children diagnosed with Prader-Willi Syndrome can reach out to the Prader-Willi Syndrome Association for a wealth of information and support. The organization’s member’s work together to promote and fund research for the disease.
You can visit their site: http://www.pwsausa.org/index.html
Here’s a video of a child living with Prader-Willi Syndrome: http://www.youtube.com/watch?v=W-0I3u6n8nA
Prader-Willi Syndrome sounds like a made up word, but for many families that have a child diagnosed with this disease it changes their outlook on life. Every day is a battle in helping their child overcome obstacles and to hear their child say they’re hungry after they just ate a lot of food. Helping their child develop cognitive skills as normal healthy children have is a constant struggle. Hopefully, one day medical researchers will find a cure to help all the families that are affected by Prader-Willi Syndrome and that those people can live productive healthy lives.
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Article by Toni Broshears
Children who are mentally challenged often do not see the world in the same way that the majority does. Communication can be difficult, if not downright frustrating, for parties who are seeking a way to connect but do not know how. Music is the great equalizer, in many areas as well as this. It can be an excellent way to reach out to those children who suffer from mental challenges.
Babies with Down syndrome, for example, are eager to communicate. Before they can speak, they work with nonverbal forms of communication such as sounds as gestures to reach out to loved ones. Just like children without mental challenges, Babies with Down syndrome are able to comprehend and learn how to speak. However, they often struggle in the formation of words due to poor muscle control. It typically takes a child with Down syndrome about twelve months longer than a child who does not suffer from any challenges to learn to form words.
Music can be used to encourage this marriage between communication and better motor skills. Children with Down syndrome often respond to the rhythm and form of music and words. Encouraging a child with Down syndrome to listen to music with words might encourage him to find the rhythm that will help him feel more comfortable with forming words a bit faster. However, it is important to remember that children with Down syndrome often struggle with hearing loss as well. In these cases, the act of providing music with a rhythm that can be felt as well as heard can stimulate the child.
In terms of cognitive development, music can make a big difference. For children with Down syndrome, learning simple things such as a playing with toys typically takes longer than it would for children without a learning disability. Evidence has shown that memory games can help the child with Down syndrome improve both his short term and visual memory.
To create a memory game using music, teach the child with Down’s syndrome a simple and memorable song. Using a tiny piano, showing the child how to go up and down the keys and form different songs such as “Mary Had a Little Lamb”. This may inspire him to want to imitate the sounds he is hearing. The challenge of playing with an instrument will teach the child how to explore and discover new things.
One of the other areas where children with Down syndrome fall behind is through the use of their motor skills. It can be a real challenge for one of these children to do something as simple as grasping a spoon to eat. Using music to help develop these motor skills can be a helpful and less frustrating experience, since music is something that would most likely be considered play.
Using an instrument such as a collection of jingle bells or a tambourine, try showing the child how to hold and shake the instrument to make noise. The desire to recreate the sound of the instrument will help to encourage the child to try harder to grasp the object. Once this is mastered, using an instrument like drums – which requires a two handed coordination and the grasp of two tiny sticks – can be a fun challenge for the child with Down syndrome.
Ultimately, music is an excellent way to communicate and inspire those children who suffer from mental challenges. As music is fun and bright, it can seem like less work and more play for the child to experience music as a learning device. This type of motivation can work wonders in inspiring a mentally challenged child to learn.
Article by Vijay K Shetty
Sometimes we come across children who have deformed organs or abnormally shaped head. We throw at them a glance of pity and in our minds thank god for blessing us with happiness. While there are many treatments for Down syndrome, Down syndrome is not a condition that can be cured.There are some therapies which can help to deal with this. The goal of medicinal treatments is to deal with physical, medical and cognitive problems with Down syndrome. This is the most common cause of mental retardation and malformation in a newborn and occurs because of the presence of an extra 21st chromosome.The symptoms include decreased muscle tone at birth, odd-shaped skull, and small mouth, protruding tongue and upward slanting eyes. There are medical treatments like anti-seizure treatments for those suffering from seizures. While some cases can get fixed by themselves with time, others require surgery, like heart defects, intestinal defects, etc.Children born with this syndrome can be helped with early interventions. This is a program of therapies, exercises and activities designed to help children the most common early intervention services for babies with Down syndrome are physical therapy and speech therapy.The goal of physical therapy is to teach children to move their bodies and improve their muscle tone, in order to prevent them from developing posture problems, etc. Speech therapy is an important treatment and can help children by making use of sign language and dealing with articulation problem.Many people with Down syndrome now live independent from their families in assisted living situations or group homes. For them to have to make that transition there need to be professionals and specialists who can help, understand and aid them in this act.Older individuals suffering with Down syndrome suffer depression and need help groups of people having the same condition, and sharing their experiences as to how to cope with it.In the United States, one out of every 750 births is a case of Down syndrome. This happens when one of the parents contributes an extra chromosome, which causes the deformities and defects related to Down syndrome. As the age of a woman increases, the risk of having a child with this problem also increases.Regular check-ups, medication and surgery are a regular part of treatment for Down syndrome. People with Down syndrome are faced with a great number of challenges in life, starting at birth. These treatments and medications are strongly focussed on increasing intelligence and improving health conditions and abilities in those suffering from Down syndrome.
Do you know that irritable bowel syndrome diet is the best and most effective way of dealing with the irritable bowel syndrome (IBS), a condition that affects around ten to twenty percent of the population in the US alone? Seventy percent of this ten to twenty percent are said to be women. The irritable bowel syndrome is manifested by different symptoms including constipation, explosive diarrhea, and abdominal pain, among others. If you want to learn more about the irritable bowel syndrome diet, continue reading this article.
The irritable bowel syndrome is manifested mainly by two symptoms: constipation and diarrhea which is caused by the freezing up or by the spastic colon contraction respectively. Because these two symptoms are related or associated to the food we eat, why not treat them through the food we eat using the irritable bowel syndrome diet. This diet involves reduction or elimination of foods considered as irritants or stimulants such as coffee, chocolate, alcohol, carbonated drinks, and caffeine. These foods are known to either stimulate or irritate the GI tract – two main reasons for an IBS attack. Because there is no specific cure for IBS, the best way to deal with it is through irritable bowel syndrome diet which deals more with choosing healthier foods so as to reduce the symptoms of irritable bowel syndrome.
The irritable bowel syndrome diet is also about eating smaller portions frequently each day. This means that instead of eating 3 meals a day, try making it 5 or 6 but with smaller portions. It’s just dividing the amount of food you eat in your regular meals and eating them at different times. Keep in mind that large, fat-filled meals can only irritate your stomach, thereby causing diarrhea, stomach pain, or constipation. Conscientious and healthy eating is the main goal of the irritable bowel syndrome diet. Vegetables, fruits, lean meat, as well as whole grain breads can help your stomach and intestinal tract stay balanced so you will not experience flare-ups.
Doctors and healthcare providers recommend the addition of fiber to your irritable bowel syndrome diet because fibers are good in reducing the irritable bowel syndrome symptoms. You can add peaches, apples, carrots, broccoli, peas, cabbage, lima and kidney beans, cereals, and whole grain breads to your irritable bowel syndrome diet and eat them with an empty stomach to make sure you can reduce the IBS symptoms. Not a lot of people think that IBS diet is simple and easy, but they are wrong because simply by knowing what you should and shouldn’t eat, reducing the IBS symptoms as well as identifying the IBS triggers is just a breeze.
In essence, healthy eating is the secret to successful irritable bowel syndrome diet. If you keep yourself disciplined and make the effort to stay away from the foods that trigger IBS and to keep close to healthy, small-portioned, and low-fat foods, then expect to significantly reduce your IBS syndromes. Of course, it doesn’t mean you have to deprive yourself of what you want. You can still eat SOME of them. It’s just a matter of choice because in the end, your health is still dependent on how you manage it.