Tag Archives: developmental delays

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.

Congenital Heart Defects: Frequently Asked Questions

What is a congenital heart defect?

  • Congenital heart defects (CHDs) are problems with the heart’s structure that are present at birth.
  • Common examples include holes in the inside walls of the heart and narrowed or leaky valves. In more severe forms of CHDs, blood vessels or heart chambers may be missing, poorly formed, and/or in the wrong place.

How common are congenital heart defects?

  • CHDs are the most common birth defects. CHDs occur in almost 1% of births.
  • An approximate 100-200 deaths are due to unrecognized heart disease in newborns each year. These numbers exclude those dying before diagnosis.
  • Nearly 40,000 infants in the U.S. are born each year with CHDs.
  • CHDs are as common as autism and about twenty-five times more common than cystic fibrosis.
  • Approximately two to three million individuals are thought to be living in the United States with CHDs. Because there is no U.S. system to track CHDs beyond early childhood, more precise estimates are not available.
  • Thanks to improvements in survival, the number of adults living with CHDs is increasing. It is now believed that the number of adults living with CHDs is at least equal to, if not greater than, the number of children living with CHDs.

What is the health impact of congenital heart defects?

  • CHDs are the most common cause of infant death due to birth defects.
  • Approximately 25% of children born with a CHD will need heart surgery or other interventions to survive.
  • Over 85% of babies born with a CHD now live to at least age 18. However, children born with more severe forms of CHDs are less likely to reach adulthood.
  • Surgery is often not a cure for CHDs. Many individuals with CHDs require additional operation(s) and/or medications as adults.
  • People with CHDs face a life-long risk of health problems such as issues with growth and eating, developmental delays, difficulty with exercise, heart rhythm problems, heart failure, sudden cardiac arrest or stroke.
  • People with CHDs are now living long enough to develop illnesses like the rest of the adult population, such as high blood pressure, obesity and acquired heart disease.
  • CHDs are now the most common heart problem in pregnant women.

What causes congenital heart defects?

  • Most causes of CHDs are unknown. Only 15-20% of all CHDs are related to known genetic conditions.
  • Most CHDs are thought to be caused by a combination of genes and other risk factors, such as environmental exposures and maternal conditions. Because the heart is formed so early in pregnancy, the damage may occur before most women know they are pregnant.
  • Environmental exposures that may be related to risk of having a CHD include the mother’s diet and certain chemicals and medications. Maternal diabetes is a recognized cause of CHDs. Maternal obesity, smoking, and some infections also may raise the risk of having a baby with a CHD. Preventing these risk factors before a pregnancy is crucial.
  • A baby’s risk of having a CHD is increased by 3 times if the mother, father, or sibling has a CHD.

Trisomy 18/Edwards syndrome

Trisomy 18, also known as Edwards syndrome, is a condition which is caused by a error in cell division, known as meiotic disjunction.  Trisomy 18 occurs in about 1 out of every 2500 pregnancies in the United States, about 1 in 6000 live births.  The numbers of total births increase significantly when stillbirths are factored in that occur in the 2nd and 3rd trimesters of pregnancy.

Unlike Down syndrome, which also is caused by a chromosomal defect, the developmental issues caused by Trisomy 18 are associated with medical complications that are more potentially life-threatening in the early months and years of life. 50% of babies who are carried to term will be stillborn, with baby boys having higher stillbirth rate than baby girls.

At birth, intensive care admissions in Neonatal units are most common for infants with Trisomy 18. Again, baby boys will experience higher mortality rates in this neonatal period than baby girls, although those with higher birth weights do better across all categories.

Some children will be able to be discharged from the hospital with home nursing support for their families. And although less than 10 percent survive to their first birthdays, some children with Trisomy 18 can enjoy many years of life with their families, reaching milestones and being involved with their community.  A small number of adults (usually girls) with Trisomy 18 have and are living into their twenties and thirties, although with significant developmental delays that do not allow them to live independantly without assisted caregiving.

What causes Trisomy 18?
At conception, 23 chromosomes from the father and 23 chromosomes from the mother combine to create a baby with a set of 46 chromosomes in each cell. A trisomy occurs when a baby has three #18 chromosomes instead of the normal two. This is something that happens at conception. And although many parents worry about this, it is important to know that parents have done nothing before or during pregnancy to cause this disorder in their child.

Are there different types of Trisomy conditions?
The most common trisomy is Trisomy 21, also known as Down syndrome, where a baby has three of the twenty-first chromosome. Trisomy 18 is the second most common trisomy and occurs when a baby has three of the eighteenth chromosome. This results in 47 chromosomes instead of the normal 46 in the affected cells. It is this extra genetic material that causes the problems associated with Trisomy 18. The third most common is Trisomy 13, also known as Patau syndrome.

While there are different types of Trisomy 18, this does not mean one is better for a child than another.  With each type, there is a range of possibilities. Some children are medically fragile while others thrive; some children walk while others are confined to wheelchairs. It is hard to say how the extra chromosome will impact an individual child from the genetic diagnosis alone.

Types of Trisomy 18:

  • Full Trisomy 18: The most common type of Trisomy 18 (occurring in about 95% of all cases) is full Trisomy. With full Trisomy, the extra chromosome occurs in every cell in the baby’s body. This type of trisomy is not hereditary. It is not due to anything the parents did or did not do—either before or during pregnancy.
  • Partial Trisomy 18: Partial trisomies are very rare.  They occur when only part of an extra chromosome is present. Some partial Trisomy 18 syndromes may be caused by hereditary factors. Very rarely, a piece of chromosome 18 becomes attached to another chromosome before or after conception. Affected people have two copies of chromosome 18, plus a “partial” piece of extra material from chromosome 18.
  • Mosaic Trisomy 18: Mosaic trisomy is also very rare. It occurs when the extra chromosome is present in some (but not all) of the cells of the body.  Like full Trisomy 18, mosaic Trisomy is not inherited and is a random occurrence that takes place during cell division.

What are the characteristics of Trisomy 18?
The genetic material from the extra eighteenth chromosome can cause a variety of problems with varying severity. Just as children with Down syndrome can range from mildly to severely affected, the same is true for children with Trisomy 18. This means that there is no hard and fast rule about what Trisomy 18 will mean for your child. However, statistics show that there is a high mortality rate for children with Trisomy 18 before or shortly after birth.

Typical characteristics of Trisomy 18 include:

  • Heart defects:
    • VSD (Ventricular Septal Defect): a hole between the lower chambers
    • ASD (Atrial Septal Defect): a hole between the upper chambers
    • Coarctation of the aorta: a narrowing of the exit vessel from the heart
  • Kidney problems
  • Part of the intestinal tract is outside the stomach (omphalocele)
  • The esophagus doesn’t connect to the stomach (esophageal artesia)
  • Excess amniotic fluid (polyhydramnios)
  • Clenched hands
  • Pocket of fluid on the brain (choroid plexus cysts)
  • Rocker bottom feet
  • Delayed growth
  • Small jaw (mycrognathia)
  • Small head (microcephaly)
  • Low-set ears
  • Strawberry-shaped head
  • Severe developmental delays
  • Umbilical or inguinal hernia

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.

Wolf-Hirschhorn Syndrome

Definition
Wolf-Hirschhorn syndrome (WHS) refers to a condition that is caused by a missing part (deletion) of the short arm of chromosome 4. This missing genetic material results in severe developmental delays, a characteristic facial appearance, and may include a variety of other birth defects.

Description
This syndrome was reported in 1965 in published reports by Wolf and Hirschhorn, who described that the characteristics of the syndrome were associated with a deletion of part of the short arm of chromosome 4. The short arm of a chromosome is called the “p” arm. Thus, this syndrome is also known as 4p-syndrome or deletion 4p syndrome, and occasionally as Wolf syndrome.

A normal human karyotype consists of 23 pairs of chromosomes. Each pair is numbered 1 through 22 and the twenty-third pair are the sex chromosomes. On each chromosome are hundreds of genes that determine how our bodies look and function. WHS is a contiguous gene syndrome. A contiguous gene syndrome occurs when a chromosome is either missing material (deletion) or has extra material (duplication) of several genes in the same region of the chromosome. Each time that the deletion or duplication of those genes occur, they cause specific characteristics that come to be known as a particular syndrome. This is in contrast to having just one particular gene cause a syndrome. Some patients who have WHS may have a small deletion on 4p, while others may be missing up to half of 4p. For this reason, some individuals have a less severe case of WHS than others do. The band 4p16.3 needs to be deleted in order for an individual to have full expression of WHS.

WHS frequently presents prenatally with slow growth (intrauterine growth delays). Some infants with WHS can be stillborn or die shortly after birth. As many as one-third of reported patients have died in the first year of life. Individuals with WHS have been described as having a characteristic facial appearance likened to a “Greek Helmet facies.” This can be described as having a small head size (microcephaly), eyes spaced widely apart (ocular hypertelorism), downturned mouth, short upper lip and short groove between the upper lip and nose (philtrum) or bilateral cleft lip and small chin (micrognathia).

These children have severe developmental delays. Other significant problems can include heart defects, cleft lip and/or palate, hearing impairment, and eye problems. Most children who have WHS have seizures (approximately 90%). Seizures are one of the major health concerns in children with WHS. These seizures begin between five and 23 months of age, however approximately 50% of the individuals stop having seizures between age three and 11. Sleeping problems are also common in children who have WHS. Although it seems that most of the literature focuses on children who have WHS, there are adults who have WHS.

Genetic profile
Frequently, with routine chromosome analysis, it is possible to identify that the short arm of chromosome 4 is missing some genetic material. The size of the missing material may vary from patient to patient. At times, the deletion is so small that it cannot be detected by routine chromosome analysis. If a patient is suspected to have WHS and an obvious deletion is not detected by routine chromosome analysis, more detailed studies, including fluorescent in situ hybridization, are warranted and may identify the missing genetic material. WHS may also present as mosaicism. Mosaicism for 4p-syndrome means that the individual has some cells that have normal number 4 chromosomes and other cells that are missing some of the genetic material from 4p.

Approximately 85–90% of cases of WHS occur as the result of a new deletion in the affected individual. This is also known as a de novo deletion and simply means that the affected individual’s parents did not have any chromosome arrangement that led to the deletion. In this case, the chance for recurrence in future pregnancies of a couple whom has an affected child is not increased. In the remaining 10–15% of cases, one of the parents of the affected individual carries a balanced translocation. A balanced translocation is a rearrangement in the individual’s chromosomes that causes that individual no problems since they have all the necessary genetic material that they need. However, when they produce eggs or sperm, the eggs or sperm may end up with an unbalanced arrangement and could lead to the conception of a child who has missing or extra genetic material. This could lead to miscarriage or to the birth of a child with conditions, such as WHS.

When a parent is identified as being a carrier of a balanced translocation, with each pregnancy they have an increased chance for having a child with an unbalanced chromosome arrangement. The chance of this is determined by the individual’s specific translocation, how it was identified, and which parent is the carrier of the translocation. Genetic counseling should be offered for any family in which a child is diagnosed to have WHS. Other family members should also be offered counseling and chromosome analysis to determine if they are carriers of a balanced translocation.

Demographics
The incidence of this condition is rare and estimated to be approximately one in 50,000 births. However, as with many genetic conditions, the condition may be misdiagnosed or may not be diagnosed in all individuals who are affected, especially if the condition results in pregnancy loss or loss in the early newborn period. It has been estimated that approximately 35% of individuals who have WHS die within the first two years of life. Also, with the advent of prenatal diagnosis, some fetuses with ultrasound abnormalities may be detected prenatally and the parents may elect to terminate the pregnancy. Approximately two-thirds of reported cases have been females.

Signs and symptoms
It is important to remember that each individual who may have a particular genetic syndrome is a unique individual. Therefore, all individuals with WHS do not have all of the same signs and symptoms. The most important reason for diagnosing an individual with a syndrome is not to put a label on that person. The reason for a diagnosis is so that predictions can be made to determine the needs of that person, based on the history available from other individuals affected with the same condition.

Signs and symptoms that can be associated with WHS include:

  • slow growth before birth
  • slow growth after birth (postnatal growth deficiency)
  • small head size
  • week cry in infancy
  • poor muscle tone (hypotonia)
  • seizures
  • severe developmental delays
  • severe delay of motor skills
  • crossed eyes (Strabismus)
  • widely spaced eyes (hypertelorism)
  • droopy eyelids (ptosis)
  • skin folds in the corner of the eyes (epicanthal folds)
  • cleft lip and/or palate
  • short upper lip and philtrum
  • small chin (micrognathia)
  • asymmetry of the skull (cranial asymmetry)
  • skin tag or pit in front of the ear (preauricular tag or pit)
  • downturned mouth
  • prominent triangular area of the forehead (glabella)
  • scalp defects on the center of the back of the head
  • underdeveloped fingerprints (dermal ridges)
  • a single crease across the palm of the hands (Simian crease)
  • misaligned bones in the front part of the foot/clubfoot (talipes equinovarus)
  • turned up fingernails
  • urinary opening on the underside of the penis (hypospadias)
  • undescended testicles (cryptorchidism)
  • dimple at the base of the spine
  • heart defects
  • curvature of the spine (scoliosis)
  • underdeveloped bones of the hands and pelvis

Diagnosis
When WHS is suspected, chromosome analysis should be performed and the laboratory should be informed as to what syndrome is suspected. This ensures that the laboratory carefully looks at chromosome 4 and if the deletion is not visible, then fluorescent in situ hybridization (FISH) can be done specifically for the critical 4p16.3 region of chromosome 4. FISH analysis is aprocedure that is used in the laboratory to identify pieces of genetic material that are too small to see by looking at the chromosome under the microscope. Instead, DNA that is specific to a particular area of a chromosome is fluorescently labeled, so that it is visible under the microscope. This labeled DNA is then added to the sample and allowed to attach itself to the particular piece of DNA in question. This enables the laboratory technician to then look under the microscope for the fluorescent spot on the chromosome and identify extra or missing pieces of DNA that are too small to see by just looking at the chromosome alone. With this procedure, those individuals who have deletions so small that they cannot be detected by routine chromosome analysis may be able to have the deletion detected by FISH.

Interestingly, there is a syndrome called Pitt-Rogers-Danks syndrome (PRDS) that has been reported to have similar characteristics to WHS. Several individuals who have initially been diagnosed with PRDS subsequently had FISH analysis that detected a deletion of 4p, and thus the individuals were reclassified as having WHS. Some feel that PRDS is actually WHS without obvious deletions of 4p.

When a couple has had a child diagnosed to have WHS, and a member of that couple carries a balanced translocation, genetic counseling should be offered to discuss reproductive options. One option is choosing sperm or egg donation so that the parent who has the translocation does not pass unbalanced genetic material on to his or her child. Another option is preimplantation genetic diagnosis. Preimplantation genetic diagnosis is a very complex process that involves in vitro fertilization and diagnosing the embryos before they are placed into the mother’s uterus. Thus, only unaffected embryos are transferred to the uterus. Lastly, the options of CVS and amniocentesis for prenatal diagnosis should be discussed. All of these options have allowed couples with balanced translocations to realize the dream of having more children when the fear of having another affected child may have otherwise stopped them from choosing to add to their families.

If ultrasound examination reveals findings consistent with the possibility of WHS in a family with no history of WHS, genetic counseling and prenatal diagnosis should be offered. These ultrasound findings may include heart defects, microcephaly, agenesis of the corpus collosum (missing a specific part of the brain), micrognathia, cleft lip and palate, a hole in the diaphragm (diaphragmatic hernia), hypospadius, and clubbed feet. Keep in mind that these findings can also be consistent with other genetic syndromes.

Treatment and management
There is no treatment for the underlying condition of WHS. Treatment and management for patients who have WHS are specific to each individual. For example, some individuals who have WHS may have heart defects or a cleft lip and/or palate that may require surgery, while others may not. Therefore, there is no specific treatment for individuals who have WHS, rather, the treatment and management is geared toward that particular individual’s needs and is likely to include several medical specialists. Information about patients who have WHS has been compiled and provides a comprehensive look into the natural history of this condition. It also allows the following management guidelines to be recommended. The collection of this information has shown that many of these individuals may achieve more development than was previously believed possible.

The following management recommendations have been made by Drs. Battaglia and Carey:

  • Feeding problems should be addressed and may require interventionsuch as placement of a gastrostomy tube.
  • Characterization of seizures is important and treatment with antiepileptic medications such as valproic acid should be investigated and may help control the seizure activity in many individuals.
  • Skeletal abnormalities such as clubfoot should be addressed and treatment should be considered. It should not be assumed that clubfoot does not need addressed because the child will never walk. Children with WHS have learned to walk unassisted.
  • As approximately 30% of individuals may have congenital heart defects, the heart should be examined. Usually, the heart lesions are not severe and may be repaired easily or may not even require surgery.
  • Hearing loss may occur and because some children are able to learn to talk in short sentences, they should be screened for hearing problems.
  • Eye abnormalities may be present and thus an ophthalmology exam should be performed to rule out any eye problems, even if no obvious signs are present.
  • In regards to the development of patients with WHS, it is suggested that individuals participate in personal development programs to assist with social skills and occupational therapy for motor skills.

Prognosis
Infants who have WHS may be stillborn or die in the newborn period and prognosis during the newborn period depends upon what birth defects are present. It has been estimated that approximately 35% of individuals who have WHS die within the first two years of life. Many individuals who have WHS survive to adulthood. Universally, children with WHS have severe or profound developmental delays, however, there are many affected individuals who are able to walk and some that are able to talk in short sentences. It is evident that many patients seem to proceed farther than was previously thought possible. The actual lifespan for individuals who have WHS is unknown, although there are several individuals who have WHS who are in their 20–40s.