Visual Processing Disorder (VPD)
What Is Visual Processing Disorder? Visual Processing Disorder is a condition affecting vision. An individual with this condition will often have normal eyesight, but there…
Williams syndrome, also called Williams-Bueren syndrome, is an unusual genetic syndrome known for delays in growth before and after a child’s birth. As the child grows, they experience stunted growth, a variable degree of mental deformity, and a unique facial outlook that becomes more noticeable as they age. The syndrome also causes endocrine problems like excess calcium in the urine and blood, hypoactive thyroid, and quick puberty.
A Global Developmental Delay, commonly known as GDD, is a situation where a child is always behind peers in achieving certain levels of intellectual growth and development.
Williams syndrome has several symptoms peculiar to almost every human body area, including internal and external regions. However, not everyone with Williams syndrome will experience all the signs. For instance, while some experience cardiac symptoms, others may only suffer from excessive calcium in the blood. The stringency of the symptoms differs between cases. Its common symptoms are explained below.
Individuals with Willaims syndrome have facial characteristics like:
Williams syndrome is evident in the blood. It is characterised by:
Sometimes, the calcium level may return to normal after one year from the child’s birth; however, some children suffer it throughout their lives. This excessive calcium condition is known as hypercalcemia.
Musculoskeletal symptoms of Williams syndrome include:
These musculoskeletal symptoms may develop and worsen as the affected persons grow.
Williams syndrome can also be visible in the mental states of its affected individuals. Some symptoms of the disorder include:
Some physical symptoms associated with Williams syndrome include:
Although these individuals often have a growth shoot between 5 and 10 years of age, they are usually below average heights during adulthood.
Other internal disorders associated with Williams syndrome include persistent urinary tube diseases, kidney problems, premature thyroid gland, and omphalocele.
Sometimes, the cause of Williams syndrome is not known. But studies have traced some cases to have origins from the family. Studies show that familial and periodic Williams syndrome stems from removals of genetic substances from neighbouring genes. These genes are found on the elongated arm of chromosome 7. Chromosomes found in the core of the human cell contain the genetic data for that person. Human chromosomes are numbered in pairs, ranging from one to 22. Then there is an extra pair that makes it 23. These extra chromosomes are sex chromosomes (X, Y), and they are made up of a single X and Y chromosomes in masculines and double X chromosomes in feminines. Every chromosome owns a short arm denoted as “p,” and the elongated arm is designated as” q.”
Studies show that 28 genes are responsible for causing Williams syndrome. These genes include the ELN gene, the RCF2 gene, and the LIM kinase-1 gene. The LIM kinase-1 gene is often accountable for visual-spatial disorders related to Williams syndrome. Sometimes, the offspring receives the syndrome as an autosomal dominant characteristic. Genetic conditions are transmitted from the parental genes to offspring, although there is a 50 per cent chance that the parents will pass the abnormal gene. Also, they can occur due to genetic mutations in the offspring.
In many cases, hypercalcemia is caused by a strange sensitivity to Vitamin D.
Other disorders have similar symptoms to those of Williams disorder. They are explained below.
Noonan syndrome is also a non-common genetic ailment mostly found during childbirth. It has many symptoms that differ by range and harshness. Some of its characteristics include:
This condition is known as an abnormal increase in the amount of calcium in the blood in infants. To date, the cause for this condition is not known. Some symptoms of this condition include:
Although, children with this condition do not have distinct facial characteristics and heart disorders, unlike Williams syndrome. Also, there are questions about whether this condition is a variant of Williams syndrome.
Donohue syndrome, also known as Leprechaunism, is an uncommon genetic endocrine abnormality. It is associated with excessive growth of the pancreas, incapacity to use insulin, and heightened amounts of estrogen. People with this syndrome usually experience stunted growth from the foetus stage. Symptoms of this condition include:
Just as earlier started, William syndrome is not a common disorder, but it equally occurs in males and females. It spans every race in equal numbers. 2 out of 36000 people in the United Kingdom have Williams syndrome.
Diagnosis of Williams syndrome is made through extensive medical examinations. These examinations involve comprehensive studies about the patient and recommended blood tests to discover excessive calcium contents in the blood. Another vital diagnosis for this condition is the Fluorescent In Situ Hybridization test, also known as FISH. Medical experts use it to check if there is an omission of an elastin gene on chromosome 7.
Children with cardiac disorders receive recommended tests to determine the location and how severe their heart defects are. Medical experts recommend tests like Echocardiogram, Cardiac catheterisation, or EKGs.
Vitamin D restrictive diets are often recommended for newborns with Williams syndrome who have excessive calcium levels in their blood. These children may also be restricted from taking foods with calcium contents. Other treatments for hypercalcemia include corticosteroid medications like prednisone. Endocrinologists preferably treat children with hypercalcemia. Although, calcium levels may become normal after one year from childbirth. For children with heart disorders, they may receive surgical operations.
Experts recommend special education classes for young ones with William syndrome to achieve academic and social milestones. They also need language and speaking therapy, physical and occupational intervention, social treatment, and vocational coaching. In some cases, music therapy can be instrumental as it relieves anxiety and boosts their learning capacity.
Families with this condition require generic advice to manage and control the William syndrome symptoms.
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