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Offline Vivianoweda

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Our privacy, the value of taking care of our shelter
« Reply #1 on: February 02, 2022, 09:41:55 AM »
Our privacy, the value of taking care of our shelter
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п»ї<title>Williams syndrome: symptoms, causes, and treatments.</title>

Williams syndrome (WS) is a rare genetic disease that causes certain developmental alterations, in addition to other symptoms. It affects 1 in 20 000 newborns, according to Puente et al. (2010).
However, according to GarayzГЎbal & CapГі (2009), thanks to the dissemination work of associations and progress in research on the human genome, its incidence could be much higher, standing at 1 in 7,500 newborns (data also suggested by the Williams Syndrome Association Spain).
But, what exactly is Williams syndrome? what symptoms does it originate? what is its cause? how is it diagnosed? how is it treated? Is it true that children with Williams syndrome have a special gift for music? Don't stay with doubts!
Williams syndrome: what is it? Williams syndrome is a rare genetic disease that affects 1 in 7500/20 000 newborns. It often causes heart problems, anxiety, physical alterations (e.g. muscle stiffness) and other symptoms.
At the personality level, children born with this syndrome show marked extroversion and hypersocial behavior. In addition, as a central feature of the syndrome, we know that it causes mild to moderate intellectual disability associated with certain cognitive and developmental deficits. It also involves a very characteristic facial phenotype (specific facial features), which we will see below.
What symptoms does Williams syndrome cause? Let us now see in more detail what the symptoms caused by Williams syndrome consist of:
Intellectual disabilityIt may be mild or moderate and involves difficulties in visual and spatial tasks (e.g., doing a puzzle or drawing). In addition, there are also deficits in psychomotor skills.
As a noteworthy aspect, music and learning by repetition-memorization are not usually affected. Moreover, some articles and research have identified a special musical talent in these children.
Heart diseaseOne of the possible symptoms of Williams syndrome, and perhaps the most serious, is a heart (cardiovascular) disease called supravalvular aortic stenosis. It consists of a narrowing of the large blood vessel (aorta), which is responsible for carrying blood from the heart to the rest of the body.
What happens if the stenosis is not treated? It can lead to chest pain, shortness of breath and heart failure. Beyond stenosis, according to the NIH (National Institutes of Health), there is also the possibility of other heart and blood vessel problems in people with Williams syndrome.
Personality characteristics and ADHDThese children are outgoing and very social, uninhibited, enthusiastic and very friendly. They tend to be extremely interested in people. In addition, the manifestation of ADHD (attention deficit hyperactivity disorder), anxiety problems and phobias is also common in this syndrome.
Specific facial featuresAt the phenotypic level, the facial features that appear in Williams syndrome (some of which become evident from 2-3 years of age) are the following:
Small jaw.
Thick lips.
Narrow forehead.
Enlargement of the tissue around the eyes.
Short nose.
Cheeks drooping, with underdeveloped molar region.
Other symptomsOther symptoms that appear in Williams syndrome, not yet mentioned, are the following:
Muscle stiffness.
Myopia.
Constipation.
Alterations of the spine.
Accumulation of calcium in the kidney.
Short stature (in relation to other members of the family).
involuntary, but conscious emission of urine.
What is the cause of Williams syndrome? Williams syndrome is a genetic disease; this means that we find its origin in the genetic material. Thus, the syndrome is caused by a loss (deletion) of genetic material from a specific region of chromosome 7 in 99% of cases. Specifically, it appears when a copy of more than 25 genes of chromosome number 7 is missing.
One of these missing genes is responsible for producing elastin, a protein that allows blood vessels and other body tissues to retract. Thus, the lack of this gene causes some of the symptoms of Williams syndrome to be the appearance of elastic skin, flexible joints and narrowing of the blood vessels.
According to MedLine Plus, in most cases the genetic mutations inherent to the disorder occur on their own, either in the sperm or in the egg from which the fetus develops. On the other hand, when a person suffers a change in their genetic material in this sense, their children have a 50% chance of inheriting this change.
How is it diagnosed? Currently Williams syndrome can be diagnosed in up to 95% of cases by molecular methods. One of the most commonly used techniques is called fluorescent in situ hybridization. What does this technique consist of? It consists of applying a reagent to a segment of DNA in the fluorescently labeled region of the chromosome.
On the other hand, there are complementary tests that can be performed when diagnosing a case of Williams syndrome, such as kidney ultrasound, blood pressure check or echocardiography combined with Doppler ultrasound.
Is there a treatment? There is no cure for Williams syndrome. However, some of the symptoms or consequences of the disorder can be treated, either at a psychological level (to work on developmental and cognitive deficits, as well as the possible emotional consequences of the same) or physiotherapeutic (to work on joint stiffness, for example), among others.
Thus, we find different therapeutic options, proposed by Morris (2017) in an article on the syndrome itself. Let's list them; at the medical level, some of the treatments used in Williams syndrome are the following:
Medication to treat hypercalcemia, such as corticosteroids.
Medications to treat high blood pressure or constipation.
Surgery to correct heart problems.
Sex hormone suppressing medications (in cases of early puberty).
At the psychological level, following Morris (2017) we also find:
Special education programs for learning disabilities.
Intervention programs for behavioral disorders and anxiety.
Finally, and regarding other types of therapies, we talk about:
Physical and physiotherapeutic therapies.
Diet modifications.
Deprivation of vitamin supplements containing vitamin D.
Williams syndrome: you are not aloneThere are many families that every year must face the new reality of having a child with Williams syndrome. Moreover, this reality often comes on suddenly and without warning, so at first families can feel very lost and helpless. With the arrival of a child with Williams syndrome, many doubts and questions arise.
For this reason, it is essential to find an adequate support to face this new reality. This support can be psychological, but one can also turn to associations and organizations that offer the opportunity to meet other families who are going through the same thing.
One of these associations is the AsociaciГіn SГ­ndrome Williams EspaГ±a, where they offer family care programs (guidance service, counseling and psychological support, family meetings, family school...) and other types of services that can help to face this new reality with greater integrity. So, do not hesitate, if you need help, ask for it! You deserve it, and so does your child.
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Our privacy, the value of taking care of our shelter
« Reply #1 on: February 02, 2022, 09:41:55 AM »