Williams syndrome, also known as Williams-Beuren or WS is a genetic disorder that causes growth delays. Developmental disorder can affect different parts of the body. The rare genetic disorder affects one in 10,000 people around the world. While the condition can cause several health problems, developmental delays, and learning challenges affected children also have highly social personalities, love for music, and exceptional verbal abilities. It has no cure. So, parents of children affected WS need to ensure lifelong care. The treatment can offer relief and support. Read ahead to know more about the condition and how to deal with it.
What Is Williams syndrome?
The condition occurs due to the spontaneous deletion of chromosome 7. The missing or deletion of 26-28 genes in the specific genes can occur in the sperm or egg used in conception. So, the condition is present at the time of conception. It occurs as a random genetic mutation or has a genetic link. So, people with no family history of WS or have a family history of the genetic issue can have a child with the condition. The deletion of the gene can cause the physical symptoms associated with WS.
Having a baby with WS can result in major struggles. Often babies born with WS have life-threatening cardiovascular problems. But, the signs and symptoms associated with WS vary. So, parents need to ensure early medical interventions to deal with health issues arising due to WS. The struggles grow as the child with WS advances in age. So, life-long care and support are essential for children born with the genetic disorder. Parents need to have the emotional and financial strength to deal with the challenges arising due to having a baby with WS.
Symptoms Of Williams Syndrome
WS can cause a set of symptoms that may occur together. You may not see any signs at the birth of the child. The condition becomes apparent as the child gets older. People affected by the syndrome may not have the same symptoms. So, it differs from one person to another. Your doctor can detect the problem during infancy or early childhood. Once the symptoms start to develop, the doctor can make a note of them. It is important for the appropriate diagnosis. Williams syndrome can cause health issues and developmental delays. The common signs associated with the genetic disorder are:
Facial Symptoms Of Williams Syndrome
Children affected by WS have unique facial features. Therefore, if you suspect the condition, then you need to look for the following signs:
- Wide forehead
- Full cheeks
- Flattened bridge of the nose
- Wide mouth
- Prominent lips
- Small chin
- Large ears
- Short nose with a large tip
- Small teeth
- Gap between teeth
- Crooked/Missing teeth
- Uneven eyes
- Presence of epicanthal folds (the folds over corners of the eyes)
- White starburst type pattern around the colored part of the eyes or iris
- Long neck and face (mostly seen during adulthood)
Heart And Blood Vessels Problems Due To Williams Syndrome
Heart complications are the first sign of WS. Most people with the syndrome suffer from narrowed blood vessels and heart complications. The common issues associated with WS are:
- Narrowing of the aorta (supravalvular aortic stenosis)
- The pulmonary arteries can also narrow (peripheral pulmonic stenosis)
Since the narrowed arteries prevent oxygen-rich blood from reaching the heart and body, you can suffer from increased blood pressure (hypertension) and irregular heartbeat (arrhythmia). The combination of high blood pressure and reduce the flow of blood to the heart can lead to cardiovascular damage.
Growth Problems Associated With Williams Syndrome
Babies born with WS have a small size. They have feeding troubles that can cause the following issue:
- Poor growth
- Shorter than average height
- Hyperextensible joints leading to delayed developmental milestones
- Low body tone
Personality Issues Associated With Williams Syndrome
Children affected by WS have unique personality traits. The following signs are prominent among children with the genetic disorder:
- Anxious nature
- Lack of “stranger danger” (overly friendly)
- Excessive empathy
- Attention problems
- Specific phobias
Learning Problems Due To Williams Syndrome
Children affected by WS have learning problems ranging from mild to severe. Affected children are slower to talk or walk. They also gain new skills at a slower pace compared to other children of the same age group. Some children can also suffer from ADHD (Attention Deficit Hyperactivity).
While WS can cause learning issues, the children with WS have good memory power. So, they can learn things quickly. The affected child speaks and read well compared to other children of the same age. Often children with WS show music talent.
Other Possible Symptoms
Apart from the above-mentioned symptoms, people affected by WS can also suffer from other symptoms like:
- Ear infections
- Scoliosis (Curved spine)
- Early puberty
- High calcium levels in the blood
- Kidney problems
- Hoarse voice
- Bone problems
- Joint issues
- Urinary tract infections
Causes Of Williams Syndrome
Williams syndrome occurs due to the deletion of genes in the small region on the chromosomes. It usually occurs due to the missing of 26-28 genes in the chromosome. The missing of the genetic material from the particular region of chromosome 7 causes the characteristics features of WS. The genes deleted include:
The deletion of LIMK1, GTF2I, CLIP2, GTF2IRD1, and others can result in characteristics of problems with spatial visualization abilities. It can also result in the presence of unique behavioral characteristics. The missing of the genes can cause problems with cognitive functions. The deletion of GTF2IRD1 can result in distinctive facial features. The deletion of the ELN gene can trigger problems with the heart and connective tissue abnormalities. In some people with WS, the absence or presence of the NCF1 gene can result in developing high blood pressure. If the part of the chromosome deleted due to WS has NCF1, the affected individuals may not develop hypertension.
In the majority of the cases, a child born with WS is the first person in the family to suffer from the syndrome. It occurs randomly during the formation of sperms or eggs in the parents of the affected person. So, the random events during reproductive cells formation can result in the medical problem. In other cases, a parent with WS has a 50% chance of passing the disorder to their children. The condition is classified as autosomal dominant. So, just one copy of the altered chromosome (number 7) in each cell can result in the disorder.
Diagnosing Williams Syndrome
In most cases, it is possible to suspect the condition by the physical characteristics of the affected person. Usually, parents can become suspicious about the issue in their children at a young age. So, the condition is diagnosed before a child is four years of age. Once you suspect the problem, it is important to seek medical advice. Your doctor can perform certain diagnostic tests to confirm the condition.
The doctor performs a thorough physical assessment. Your doctor can ask about the family medical history. You need to inform the doctor about family members who suffer from Williams syndrome. It is important for assessing the condition. During the physical examination, the doctor checks for the following facial features:
- Wide forehead
- Upturned nose
- Small teeth
Based on the physical assessment, your doctor can suggest a test that can detect the condition accurately.
FISH (Fluorescent In Situ Hybridization)
The doctor suggests the DNA test to conclusively determine the syndrome. The blood of the affected person is sent to the lab for analysis. The lab test labels the DNA sequences of the affected person with a chemical. The DNA sequences light up under the ultraviolet light. It helps determine if any gene is missing or not. Children with the syndrome have a deletion in chromosome number 7 (7q11.23 region) that contains the elastin gene.
It is the test that helps understand the severity of the syndrome. The test uses millions of markers to detect the DNA. So, it helps determine if the affected person’s chromosome has missing or extra pieces of DNA. The test is slower compared to FISH. But, it provides comprehensive information on the missing piece. So, the doctor can determine the severity of the child’s condition.
Once the doctor diagnoses the syndrome, it is essential to determine how it affects the child. The child can suffer from several health issues due to the problem. So, the following tests can determine health issues.
It measures the electrical activity of the heart. So, the test can detect any heart problem caused due to the syndrome.
It is the sophisticated imaging test that can check problems with the internal organs. Children affected by the syndrome need to undergo an ultrasound test of the heart to check structural abnormalities. The kidney and bladder ultrasound can detect urinary tract conditions.
A sample of the blood is taken and assessed in the lab to detect calcium levels. People with the syndrome can have high levels of calcium.
Some children affected by the syndrome have an unusual iris pattern. So, an eye test can detect the issue and detect any vision problems.
The health complications due to the syndrome develop over time. Therefore, your doctor will want to see the affected child at frequent intervals. It can help detect the problems with the health and take necessary actions as early as possible.
Treatment Options For Williams Syndrome
You need to understand that the condition has no cure. The treatment only focuses on easing the symptoms associated with the problem. The treatment is only symptomatic and offers support to the affected child. The affected person needs regular monitoring to detect potential medical problems as early as possible. So, you need to get the assessment done by a physician who knows the problems caused by WS. The treatment depends entirely on the symptoms suffered by the individual. So, there is no standard protocol to treat the condition.
Specialized Team To Treat Williams Syndrome
As the condition needs the multi-disciplinary treatment, you need a team of doctors. The different medical professionals involved in taking care of the affected child are:
- Cardiologist to treat the different condition affecting the heart
- Speech and language therapist to address problems with verbal communication
- Occupational therapist to make them independent
- Endocrinologist to treat different hormone problems
- Gastroenterologist to find solutions for gastrointestinal problems
- An ophthalmologist to treat vision-related issues
- Psychologist to deal with issues arising due to personality traits
- A physical therapist for strengthening motor skills
- Nutritionist to develop a diet (low in Vitamin D and Calcium) by keeping the high calcium levels in mind
You need to provide specialized services as well as therapies to individuals with WS. It will help them maximize their potential. You need to ensure regular checkups for the affected child. So, based on the symptoms exhibited by the child, you need to provide treatment to address it.
Living With Williams Syndrome
Williams syndrome or WS is an incurable condition. You can provide treatments to manage the symptoms associated with the condition. If you have a family member with the condition, then you need to get medical assistance as early as possible to handle the health problems. Similarly, children with the condition may suffer from learning problems. Therefore, you need to guide them to acquire skills that will help them enjoy some level of independence.
Addressing Health Issues
The complex nature of the genetic disorder makes it necessary to have a team of healthcare and educational professionals to provide care for affected people. An affected individual requires regular monitoring for potential health problems they can develop. So, they need a regular physician who is familiar with the person’s broad array of problems associated with the genetic condition.
Detect Intellectual Problems
When the affected child gets older, they can demonstrate what is known as intellectual strength and weakness. Affected children can demonstrate strong performance in intellectual areas like social skills, long-term memory, and speech. While they exhibit weakness in other intellectual areas lie spatial relations and fine motor skills. Therefore, you need to seek assistance from occupational therapists, speech and language pathologists, developmental psychologists, and physical therapists. Seeking guidance from professionals with WS can help with better assistance. By getting assistance from multi-disciplinary teams specializing in WS, you can help your child.
Find Support Group
A family with a child with WS need to address the health and learning problems plaguing the child. So, they need support from groups that has the vision of improving the lives of people affected by WS. You can ask your doctor to find the groups that can support the families by providing timely medical and educational information. You need to attend conferences, social gatherings, access articles or newsletters that offer more information about the condition. It will help you address the educational, social, behavioral and medical problem arising due to the genetic disorder.
Having a child with WS can drain your physical and mental energy. You can feel all sorts of emotions while providing care to children with the genetic disorder. Therefore, getting assistance and guidance will help deal with the care of affected children with Williams syndrome.
Long-Term Complications Of Williams Syndrome
You need to understand that the condition has no cure. So, a person affected by the problem needs immediate medical assistance to manage the different symptoms associated with the issue. A medical evaluation can determine the severity of the problems in the affected person. The syndrome can trigger several health conditions that adversely affect the lifespan. The complications like narrowed blood vessels can result in heart problem leads to death. It occurs due to the calcium deposits, which also causes kidney problems. With proper management and care, a person affected by Williams syndrome can live into their sixties.
People suffering from the syndrome experience some degree of intellectual disability. Therefore, you need to assist with self-help skills. With early intervention in the school, a child affected by the issue can develop a certain level of independence. Some people may need 24-hour care. So, they need to live with a caregiver or in a special home with supervised help. It makes life easier for affected people. With intervention, the affected person can live a hellish life or face fatal results.
Preventing Williams Syndrome
It is not possible to prevent the condition. No studies show conclusive ways to prevent the condition. People with a family history of the genetic condition can choose the following methods to know about the possibility of having a baby with Williams syndrome.
If you have a family member with the genetic disorder, then you need to get genetic counseling. It will help you know the chances of having a baby with a similar condition. So, people with a family history of serious genetic disorders can ask questions about the possibility of having a child with the condition. You can also know about the possibility of passing a hereditary condition to your baby by you or your partner. Genetic counselors apart from answering your doubts can offer support to deal with the emotional issue associated with the genetic condition affecting the family.
Couple with a history of Williams syndrome who are planning for a baby needs to undergo prenatal testing. Once you conceive, you have a 50% chance of having a baby with the syndrome. So, you need to undergo CVS (Chorionic Villus Sampling). It is an invasive test that extracts the sample cells from the fetus at 10-12 weeks gestational age. Your doctor can perform amniocentesis from 15 to 18 weeks gestation to get the sample. The sample undergoes FISH (Fluorescence in situ hybridization) test. It detects the microdeletion of a specific region (WBSCR critical region) in fetal cells.
Unaffected parents who have a child with the syndrome need to undergo prenatal testing to eliminate the possibility that their current baby does not have a genetic problem. It is suggested due to the risk of recurrence due to the possibility of inversion polymorphism or germline mosaicism. It is also suggested to ease parental anxiety.
With proper care and management, people with William syndrome can have a normal lifespan. But, several health problems can cause challenges in normal life expectancy. So, some affected people can have a shorter than normal lifespan. In most people affected by the syndrome can experience a certain degree of intellectual disability. So, you need to focus on providing support to make them independent. Some people can find regular, paid work and live life with a certain level of independence. But, most people live in a supervised setting or stay with their parents. The guidance offered to affected people can help them gain employment in a supervised setting. But, care is necessary to impart skills that will help them recognize abusive situations. Parents with children who suffer from WS syndrome need to prepare themselves for the emotional upheaval caused due to caring affected children. Getting help will aid in dealing with such situations better.
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