Tag Archives: cardiovascular Disease

Williams syndrome

Williams syndrome is a genetic condition that is present at birth and can affect anyone.  It is characterized by medical problems, including cardiovascular disease, developmental delays, and learning disabilities.  These occur side by side with striking verbal abilities, highly social personalities and an affinity for music.

WS affects 1 in 10,000 people worldwide – an estimated 20,000 to 30,000 people in the United States. It is known to occur equally in both males and females and in every culture.

Unlike disorders that can make connecting with your child difficult, children with WS tend to be social, friendly and endearing.  Parents often say the joy and perspective a child with WS brings into their lives had been unimaginable.

But there are major struggles as well.  Many babies have life-threatening cardiovascular problems.  Children with WS need costly and ongoing medical care, and early interventions (such as speech or occupational therapy) that may not be covered by insurance or state funding.  As they grow, they struggle with things like spatial relations, numbers and abstract reasoning, which can make daily tasks a challenge. And as adults, most people with WS need supportive housing to live to their fullest potential.  Many adults with WS contribute to their communities as volunteers or paid employees, for example working at senior homes and libraries or as store greeters or veterinary aides.

Just as important are opportunities for social interaction. As people with WS mature – beyond the structure of school and family activities – they often experience intense isolation which can lead to depression.  They are extremely sociable and experience the normal need to connect with others; however people with Williams syndrome often don’t process nuanced social cues and this makes it difficult to form lasting relationships.

Common features of Williams syndrome include:

  • Characteristic facial appearance
    Most young children with Williams syndrome are described as having similar facial features. These features include a small upturned nose, long philtrum (upper lip length), wide mouth, full lips, small chin, and puffiness around the eyes. Blue and green-eyed children with Williams syndrome can have a prominent “starburst” or white lacy pattern on their iris. Facial features become more apparent with age.
  • Heart and blood vessel problems
    The majority of individuals with Williams syndrome have some type of heart or blood vessel problem. Typically, there is narrowing in the aorta (producing supravalvular aortic stenos is SVAS), or narrowing in the pulmonary arteries. There is a broad range in the degree of narrowing, ranging from trivial to severe (requiring surgical correction of the defect). Since there is an increased risk for development of blood vessel narrowing or high blood pressure over time, periodic monitoring of cardiac status is necessary.
  • Hypercalcemia (elevated blood calcium levels)
    Some young children with Williams syndrome have elevations in their blood calcium level. The true frequency and cause of this problem is unknown. When hypercalcemia is present, it can cause extreme irritability or “colic-like” symptoms. Occasionally, dietary or medical treatment is needed. In most cases, the problem resolves on its own during childhood, but lifelong abnormality in calcium or Vitamin D metabolism may exist and should be monitored.
  • Low birth-weight / slow weight gain
    Most children with Williams syndrome have a slightly lower birth-weight than their brothers or sisters. Slow weight gain, especially during the first several years of life, is also a common problem and many children are diagnosed as “failure to thrive”. Adult stature is slightly smaller than average.
  • Feeding problems
    Many infants and young children have feeding problems. These problems have been linked to low muscle tone, severe gag reflex, poor suck/swallow, tactile defensiveness etc. Feeding difficulties tend to resolve as the children get older.
  • Irritability (colic during infancy)
    Many infants with Williams syndrome have an extended period of colic or irritability. This typically lasts from 4 to 10 months of age, then resolves. It is sometimes attributed to hypercalcemia. Abnormal sleep patterns with delayed acquisition of sleeping through the night may be associated with the colic.
  • Dental abnormalities
    Slightly small, widely spaced teeth are common in children with Williams syndrome. They also may have a variety of abnormalities of occlusion (bite), tooth shape or appearance. Most of these dental changes are readily amenable to orthodontic correction.
  • Kidney abnormalities
    There is a slightly increased frequency of problems with kidney structure and/or function.
  • Hernias
    Inguinal (groin) and umbilical hernias are more common in Williams syndrome than in the general population.
  • Hyperacusis (sensitive hearing)
    Children with Williams syndrome often have more sensitive hearing than other children; Certain frequencies or noise levels can be painful an/or startling to the individual. This condition often improves with age.
  • Musculoskeletal problems
    Young children with Williams syndrome often have low muscle tone and joint laxity. As the children get older, joint stiffness (contractures) may develop. Physical therapy is very helpful in improving muscle tone, strength and joint range of motion.
  • Overly friendly (excessively social) personality
    Individuals with Williams syndrome have a very endearing personality. They have a unique strength in their expressive language skills, and are extremely polite. They are typically unafraid of strangers and show a greater interest in contact with adults than with their peers.
  • Developmental delay, learning disabilities and attention deficit disorder
    Most people with Williams syndrome mild to severe learning disabilities and cognitive challenges. Young children with Williams syndrome often experience developmental delays.  Milestones such as walking, talking and toilet training are often achieved somewhat later than is considered normal. Distractibility is a common problem in mid-childhood, which can improve as the children get older.

Older children and adults with Williams syndrome often demonstrate intellectual “strengths and weaknesses.” There are some intellectual areas (such as speech, long term memory, and social skills) in which performance is quite strong, while other intellectual areas (such as fine motor and spatial relations) show significant weakness.

February Is American Heart Month: Are You at Risk for Heart Disease?

Heart disease is the leading cause of death for men and women in the United States. Every year, 1 in 4 deaths are caused by heart disease.

The good news? Heart disease can often be prevented when people make healthy choices and manage their health conditions. Communities, health professionals, and families can work together to create opportunities for people to make healthier choices

During the month of February, Americans see the human heart as the symbol of love. February is American Heart Month, a time to show yourself the love. Learn about your risks for heart disease and stroke and stay “heart healthy” for yourself and your loved ones.

Cardiovascular disease (CVD)—including heart disease, stroke, and high blood pressure— is a leading cause of disability, preventing Americans from working and enjoying family activities. CVD costs the United States over $300 billion each year, including the cost of health care services, medications, and lost productivity.

Understanding the Burden of CVD
CVD does not affect all groups of people in the same way. Although the number of preventable deaths has declined in people aged 65 to 74 years, it has remained unchanged in people under age 65. Men are more than twice as likely as women to die from preventable CVD.

Many CVD deaths could have been prevented through healthier habits, healthier living spaces, and better management of conditions like high blood pressure and diabetes.

Take It One Step at a Time

You can control a number of risk factors for CVD, including:

  • Diet
  • Physical activity
  • Tobacco use
  • Obesity
  • High blood pressure
  • High blood cholesterol
  • Diabetes

As you begin your journey to better heart health that can last a lifetime, keep these things in mind:

  • Try not to become overwhelmed. Every step brings you closer to a healthier heart, and every healthy choice makes a difference!
  • Partner up. The journey is more fun—and often more successful—when you have company. Ask friends and family to join you.
  • Don’t get discouraged. You may not be able to take all of the steps at one time. Get a good night’s sleep—also important for a healthy heart—and do what you can tomorrow.
  • Reward yourself. Find fun things to do to decrease your stress. Round up some colleagues for a lunchtime walk, join a singing group, or have a healthy dinner with your family or friends.

Plan for Prevention
Try out these strategies for better heart health. You’ll be surprised how many of them can become lifelong habits!

Work with your health care team. Get a checkup at least once each year, even if you feel healthy. A doctor, nurse, or other health care professional can check for conditions that put you at risk for CVD, such as high blood pressure and diabetes—conditions that can go unnoticed for too long.

Monitor your blood pressure. High blood pressure often has no symptoms, so be sure to have it checked on a regular basis. You can check your blood pressure at home, at a pharmacy, or at a doctor’s office.

Get your cholesterol checked. Your health care team should test your cholesterol levels at least once every 5 years. Talk with your health care professional about this simple blood test.

Eat a healthy diet. Choosing healthful meal and snack options can help you avoid CVD and its complications. Limiting sodium in your diet can lower your blood pressure. Be sure to eat plenty of fresh fruits and vegetables—adults should have at least five servings each day. Eating foods low in saturated fat, trans fat, and cholesterol and high in fiber.

Maintain a healthy weight. Being overweight or obese can increase your risk for CVD. To determine whether your weight is in a healthy range, health care professionals often calculate a number called body mass index (BMI). Doctors sometimes also use waist and hip measurements to measure a person’s body fat.

Exercise regularly. Physical activity can help you maintain a healthy weight and lower cholesterol and blood pressure. The Surgeon General recommends that adults should engage in moderate-intensity activity for at least 150 minutes per week. Remember to incorporate exercise into your day in different ways: take the stairs instead of the elevator, or rake the yard instead of using the leaf blower. Exercising with friends and family can be a great way to stay healthy and have fun.

Don’t smoke. Cigarette smoking greatly increases your risk for CVD. If you don’t smoke, don’t start. If you do smoke, quit as soon as possible. Your health care team can suggest ways to help you quit.

Limit alcohol use. Avoid drinking too much alcohol, which can increase your blood pressure. Men should stick to no more than two drinks per day, and women to no more than one.

Manage your diabetes. If you have diabetes, monitor your blood sugar levels closely, and talk with your health care team about treatment options.

Take your medicine. If you’re taking medication to treat high blood pressure, high cholesterol, diabetes, or another condition, follow the instructions carefully. Always ask questions if you don’t understand something. If you have side effects, talk with your health care team about your options.

Together, we all can prevent and manage heart disease, one step at a time.

Williams syndrome

Williams syndrome is a genetic condition that is present at birth and can affect anyone.  It is characterized by medical problems, including cardiovascular disease, developmental delays, and learning disabilities.  These occur side by side with striking verbal abilities, highly social personalities and an affinity for music.

WS affects 1 in 10,000 people worldwide – an estimated 20,000 to 30,000 people in the United States. It is known to occur equally in both males and females and in every culture.

Unlike disorders that can make connecting with your child difficult, children with WS tend to be social, friendly and endearing.  Parents often say the joy and perspective a child with WS brings into their lives had been unimaginable.

But there are major struggles as well.  Many babies have life-threatening cardiovascular problems.  Children with WS need costly and ongoing medical care, and early interventions (such as speech or occupational therapy) that may not be covered by insurance or state funding.  As they grow, they struggle with things like spatial relations, numbers and abstract reasoning, which can make daily tasks a challenge. And as adults, most people with WS need supportive housing to live to their fullest potential.  Many adults with WS contribute to their communities as volunteers or paid employees, for example working at senior homes and libraries or as store greeters or veterinary aides.

Just as important are opportunities for social interaction. As people with WS mature – beyond the structure of school and family activities – they often experience intense isolation which can lead to depression.  They are extremely sociable and experience the normal need to connect with others; however people with Williams syndrome often don’t process nuanced social cues and this makes it difficult to form lasting relationships.

Common features of Williams syndrome include:

  • Characteristic facial appearance
    Most young children with Williams syndrome are described as having similar facial features. These features include a small upturned nose, long philtrum (upper lip length), wide mouth, full lips, small chin, and puffiness around the eyes. Blue and green-eyed children with Williams syndrome can have a prominent “starburst” or white lacy pattern on their iris. Facial features become more apparent with age.
  • Heart and blood vessel problems
    The majority of individuals with Williams syndrome have some type of heart or blood vessel problem. Typically, there is narrowing in the aorta (producing supravalvular aortic stenos is SVAS), or narrowing in the pulmonary arteries. There is a broad range in the degree of narrowing, ranging from trivial to severe (requiring surgical correction of the defect). Since there is an increased risk for development of blood vessel narrowing or high blood pressure over time, periodic monitoring of cardiac status is necessary.
  • Hypercalcemia (elevated blood calcium levels)
    Some young children with Williams syndrome have elevations in their blood calcium level. The true frequency and cause of this problem is unknown. When hypercalcemia is present, it can cause extreme irritability or “colic-like” symptoms. Occasionally, dietary or medical treatment is needed. In most cases, the problem resolves on its own during childhood, but lifelong abnormality in calcium or Vitamin D metabolism may exist and should be monitored.
  • Low birth-weight / slow weight gain
    Most children with Williams syndrome have a slightly lower birth-weight than their brothers or sisters. Slow weight gain, especially during the first several years of life, is also a common problem and many children are diagnosed as “failure to thrive”. Adult stature is slightly smaller than average.
  • Feeding problems
    Many infants and young children have feeding problems. These problems have been linked to low muscle tone, severe gag reflex, poor suck/swallow, tactile defensiveness etc. Feeding difficulties tend to resolve as the children get older.
  • Irritability (colic during infancy)
    Many infants with Williams syndrome have an extended period of colic or irritability. This typically lasts from 4 to 10 months of age, then resolves. It is sometimes attributed to hypercalcemia. Abnormal sleep patterns with delayed acquisition of sleeping through the night may be associated with the colic.
  • Dental abnormalities
    Slightly small, widely spaced teeth are common in children with Williams syndrome. They also may have a variety of abnormalities of occlusion (bite), tooth shape or appearance. Most of these dental changes are readily amenable to orthodontic correction.
  • Kidney abnormalities
    There is a slightly increased frequency of problems with kidney structure and/or function.
  • Hernias
    Inguinal (groin) and umbilical hernias are more common in Williams syndrome than in the general population.
  • Hyperacusis (sensitive hearing)
    Children with Williams syndrome often have more sensitive hearing than other children; Certain frequencies or noise levels can be painful an/or startling to the individual. This condition often improves with age.
  • Musculoskeletal problems
    Young children with Williams syndrome often have low muscle tone and joint laxity. As the children get older, joint stiffness (contractures) may develop. Physical therapy is very helpful in improving muscle tone, strength and joint range of motion.
  • Overly friendly (excessively social) personality
    Individuals with Williams syndrome have a very endearing personality. They have a unique strength in their expressive language skills, and are extremely polite. They are typically unafraid of strangers and show a greater interest in contact with adults than with their peers.
  • Developmental delay, learning disabilities and attention deficit disorder
    Most people with Williams syndrome mild to severe learning disabilities and cognitive challenges. Young children with Williams syndrome often experience developmental delays.  Milestones such as walking, talking and toilet training are often achieved somewhat later than is considered normal. Distractibility is a common problem in mid-childhood, which can improve as the children get older.

Older children and adults with Williams syndrome often demonstrate intellectual “strengths and weaknesses.” There are some intellectual areas (such as speech, long term memory, and social skills) in which performance is quite strong, while other intellectual areas (such as fine motor and spatial relations) show significant weakness.