John C. P. Williams (b.1922), a cardiac specialist from New Zealand, and the first German chair of pediatric cardiology, Alois Beuren (1919-1984), were the first physicians to describe Williams-Beuren syndrome, which was named after them, in the early 1960s. WBS is a genetic defect that has significant effects on the internal organs, especially the heart, and the physical appearance of affected individuals. It is also characterized by a dysfunction of social behavior.
What is Williams-Beuren syndrome?
How many children are born with Williams-Beuren syndrome has not yet been conclusively researched. The condition, which affects both girls and boys and men and women equally, is rare. Preliminary estimates put the probability of having WBS in newborns at 1 in 7,000 to 1 in 50,000.
Causes
The disease is caused by the absence (“deletion”) of each of a 23-unit or larger group of genes on chromosome 7. In almost all cases, this deletion affects the important structural protein elastin. Elastin is essential for the elasticity and strength of blood vessels, among other things. Chromosome 7 contains 1000 to 1500 genes. The basic cause of WBS is a corresponding maldevelopment in the sperm or egg cell. Involvement of such a maldeveloped germ cell during fertilization results in WBS.
Symptoms, complaints, and signs
Symptoms of WBS are varied and occur in different combinations in affected individuals. WBS sufferers often have small heads with upturned lips, hypoplastic “mouse teeth” and “bunny noses,” padded upper eyelid regions, and other rounded facial features. These “funny face” appearances created terms now little used in connection with WBS, such as “goblin faces” or “elf children.” In addition to weak muscle tone, short stature, iris blue discoloration, defective vision, and toe and finger deformities, impairments of internal organs are also typical of WBS. These include heart defects, elastin deficiency-related narrowing of blood vessels, hypertension, kidney and lung problems. Elongated neck, an overly narrow chest, and drooping shoulders are also typical. WBS sufferers usually have below-average intelligence. In return, however, they often have insular talents (excellent memory, absolute pitch). The US-American Gloria Lenhoff, for example, became famous as a lyric soprano with a repertoire of 2000 arias in 30 languages. The soft-spoken, often helpful and empathetic WBSers are exceedingly talkative, curious and outgoing to the point of aloofness. Their language skills and friendly curiosity initially make them appear intelligent, although they have low IQs and do not know the meaning of many terms they use. This conspicuousness is referred to as “cocktail party Manner.” However, WBSers are also prone to depression, phobias and panic attacks. A peculiarity is the low reaction of WBS sufferers to situations determined by angry people. In contrast, confrontations with extreme situations without people, such as volcanic eruptions or burning buildings, trigger panic in WBS sufferers. Triggers for this different intensity of nonsocial and social anxiety in WBS sufferers compared with WBS nonaffected individuals can be traced to a change in the brain region called the amygdala.
Diagnosis and course of the disease
Williams-Beuren syndrome, which is caused by gene loss, can be specifically diagnosed at an early stage by a chromosome analysis called a “FISH test” (fluorescence in situ hybridization test). In this cytogenetic rapid test, special dye associated with a blood sample only marks complete chromosomes. In case of gene loss, non-staining indicates WBS. The test can also be performed prenatally. However, because of the risk factors associated with the test for the unborn child during amniocentesis, it is not regularly used at this stage. Therefore, WBS often remains undetected in infants and young children for a long time. Especially since the Apgar test often used for newborns is not designed for the rare and widely unknown WBS. In most cases, WBS is only noticed at a late stage because of certain behavioral abnormalities. Laboratory analysis of the blood for the presence of hypercalcemia (excess calcium) also provides clues to possible WBS.
Complications
The typical malformations make Williams-Beuren syndrome a very complication-prone disorder. Growth retardation already occurs during pregnancy. After birth, malpositions, neurologic deficits, and other complications occur as a result of low muscle tone. A typical sequelae is the so-called clinodactyly, in which the little fingers are bent sideways. In addition, malpositioning of the toes can occur, causing gait insecurity and poor posture in affected children. In the area of the internal organs, cardiac arrhythmias, high blood pressure and heart palpitations may occur. In a severe course, heart failure occurs as a result of the narrowing of the aorta. People with WBS are also at increased risk for kidney malformations. A dysfunctional kidney can lead to a variety of symptoms and, in some cases, life-threatening complications. Children with Williams-Beuren syndrome also often suffer from swallowing difficulties, sleep disorders and developmental delay, each associated with various physical and emotional complications. At an older age, scoliosis, i.e. a curvature of the spine, may occur. Surgical treatment of the deformities is associated with the typical risks. Due to the often lifelong administration of medication, side effects, interactions and late effects cannot be ruled out either.
When should you go to the doctor?
“Williams-Beuren syndrome” is a disease that manifests itself in the form of a developmental disorder with a heart defect. This is caused by gene mutation on one of the two chromosomes number 7 and is accordingly already present at birth. However, the frequency is about 1:20,000 affected persons, which is why prenatal testing is rarely necessary. There are a variety of symptoms that can occur in “WBS” patients. These include, in particular, the development of characteristic facial features. These include: a broad forehead, a flat nasal bridge ending in a spherical nasal tip, prominent cheekbones, a large mouth, heavy eyes (upper eyelid edema), a short palpebral fissure, and a star-shaped pattern on the iris of both eyes. Affected individuals more often show deficits in spatial vision, are sensitive to noise, and may be prone to dental decay. Furthermore, serious vascular malformations may exist. A doctor should be consulted if the symptoms limit the affected person. People affected by the syndrome often have a special sense of rhythm and are therefore often musically gifted. Some affected children are also very lexically inclined and learn to read before regular children do. They also have an easy time with verbal communication and are considered very sociable. Despite all this, “WBS” affected children are dependent on the help of others throughout their lives.
Treatment and therapy
After puberty, WBS sufferers often, but not necessarily, become listless after a childhood characterized by hyperactivity. WBS itself does not directly affect the life expectancy of affected individuals. However, the impairment of organs caused by WBS can be life-shortening. A causal cure for the WBS gene defect is not possible. Therefore, WBS therapy must be limited to the treatment of symptoms. By treating the WBS-related symptoms, the quality of life can be significantly improved. In this regard, treatments of the common heart defects and eye malocclusions can be considered. Special diets can control the hypercalcemia typical of WBS. Regular blood pressure checks are also indicated. Due to their numerous deficits, WBS sufferers are dependent on support in daily life for the rest of their lives. In this context, intensive support measures (occupational therapy, music promotion), which start as early as the toddler stage, play an important role for children with Williams-Beuren syndrome who are consistently developmentally delayed. Also a consistent education to the observance of social rules of the gladly and unasked to other people approaching WBSler is part of the life support. Many WBSers can follow the lessons at an integrative elementary school, others are overwhelmed and need special education instruction. WBSers almost always have a fulfilling life within the circle of their families and with the help of specialized services.
Prevention
Prevention of Williams-Beuren syndrome is not possible because of the nature of this condition as a spontaneous genetic change. Because WBS is inherited with a 50% probability in parental couples in which one or both partners have WBS, the ethically controversial approach of preventing WBS-affected individuals from fathering offspring is sometimes discussed.
Follow-up
Williams-Beuren syndrome is an incurable disease that is treated only symptomatically. Many of these symptoms can be self-treated by sufferers. To alleviate the symptoms, parents should facilitate gymnastics and occupational therapy with the sick child. There, parents can then learn many methods to treat the child from home and significantly alleviate the discomfort. In addition, the child should be sufficiently informed about his or her illness by the respective doctor. However, this should be done only when the child is of an appropriate age and maturity. It is also helpful to enroll the child in a self-help group. There he or she can learn how to cope with the disease in the long term. In addition, the child can exchange opinions and experiences with other patients and will not feel alone. It could also be helpful to place the child in long-term psychological counseling. A psychologist can also teach the sufferer how best to cope with the disease. It is imperative that the child attends regular doctor’s appointments. Since secondary diseases can occur later in life as a result of the disease, the doctor’s visits should be kept until old age. Affected persons should choose a profession that can be practiced with the disease. The choice should also be discussed with the respective physician.
This is what you can do yourself
Williams-Beuren syndrome is associated with various symptoms and discomforts. Many of the symptoms can be treated yourself. As part of physical therapy and occupational therapy, the parent or guardian is told measures that the child can do at home to alleviate the symptoms. The more comprehensive this early intervention, the better the prognosis. Accompanying this, the child must be educated about his or her condition. The right time for this depends on the mental maturity of the child and is best chosen in consultation with the responsible physician. The affected child can be educated about his or her disease by means of suitable reading or discussions with other affected persons. The feature film “Gabrielle – (K)eine ganz normale Liebe” presents the life of an affected person in documentary form and can also be used for educational purposes. Regular visits to the doctor are also an important part of self-help. Medical check-ups must be continued into old age, as further complaints, such as scoliosis, can occur in the course of life. Various lifestyle changes are also necessary, such as getting enough rest and choosing an occupation that can be performed with the respective deformities and diseases. During a consultation with the specialist, the necessary steps in each case are discussed.
