WILLIAMS SYNDROME
Williams Syndrome is named after a New Zealand cardiologist who, in 1956, described a series of patients with very similar distinctive physical and intellectual characteristics. It is a rare congenital disorder caused by the deletion of elastin and approximately twenty other genes on chromosome #7, and is characterized by a striking mix of physical and developmental characteristics. It affects males and females equally, and occurs in all ethnic groups. There is no known cure, or standard course of treatment. However, when Williams Syndrome is correctly diagnosed, it can be treated.
While the severity of symptoms varies among patients, common physical characteristics of Williams Syndrome include an excessively impulsive and outgoing personality, intellectual developmental delay and learning disabilities, mental retardation or attention deficit disorder. However, older children with Williams Syndrome often demonstrate intellectual "strengths," along with these developmental "weaknesses." People with Williams Syndrome display some highly developed intellectual areas such as verbal acuity, which often make them wonderful storytellers. They often have a striking musical ability, relatively good reading and phonics skills, and extremely strong social skills (where they may surpass the abilities of a child with normal abilities and intellect). Unfortunately, because of their remarkable verbal and social abilities, educators are often misled into thinking that these children have better reasoning skills than they actually possess, and in many cases these children do not get the academic support they need.
Research indicates that there are other genetic inconsistencies that contribute to Williams Syndrome. Extensive research still remains to be done to identify those genetic inconsistencies, and to develop prenatal testing in order to identify potential Williams Syndrome candidates.
Physical & Developmental Traits
Though all individuals with Williams Syndrome are unique, many of them share similar physical, developmental, cognitive and social characteristics.
Physical Traits: Many children with Williams Syndrome (WS) are said to have similar "elfin" facial features. They generally have a small, upturned nose with a low bridge, long upper lip length, wide mouth, full lips, small chin and puffiness around the eyes. Children with blue or green eyes may have a prominent "starburst," a white lacy pattern, on their iris. These facial features become more apparent with age. Individuals with WS are also of a slightly smaller-than-average stature.
Individuals with WS may suffer from physical problems, specifically heart or blood vessel problems. They typically have a narrowing in the aorta or pulmonary arteries, which can cause conditions such as supravalvular aortic stenosis. For this reason, it is necessary to keep an ongoing status of cardiac health. Young children with WS may also have hypercalcemia (high blood calcium levels), which causes extreme irritability. The condition usually resolves itself during childhood, but in some cases, dietary or medical treatment may be needed.
Developmental Patterns: Many of the developmental problems associated with WS occur during infancy. Most children with WS have a slightly lower birth-weight than average, and are slow to gain weight in their early years. They have feeding problems as infants, and can be fussy eaters as toddlers. Prolonged crying during infancy is also common. Developmental milestones, such as sitting, crawling and walking, are delayed in children with WS. They may also develop poor eyesight, dental problems and have difficulties with balance and motor skills. Also, due to highly sensitive hearing, children with WS are often bothered by loud noises (hyperacusis).
Cognitive Abilities: People with WS exhibit both cognitive strengths and weaknesses. They tend to have attention deficit disorders and may be "highly distractible." Intellectual weakness such as poor fine motor skills (writing, cutting) and spatial integration difficulties are common. People with WS also have exceptional intellectual strengths. They have a meaningful memory for people and places, and a good auditory memory (names, melodies, words to songs). People with WS are adept at using language, can express themselves poetically and are good storytellers. Many of them are musically gifted and have perfect pitch.
Social Behaviors: People with WS can best be described being social, outgoing and loving. They are friendly and talkative, and display no fear of strangers, even as young children. Children with WS usually prefer interacting with adults to their peers. They are affectionate and empathetic, and sometimes tend to be overly sensitive to the feelings of others. Apprehension to new ideas and resistance to change is common.
Getting Diagnosed
If you suspect your child or someone you know may have Williams Syndrome (WS), you can ask your doctor for a blood test to confirm a clinical diagnosis. A special technique known as fluorescent in situ hybridization (FISH) can determine whether there is a deletion of the elastin gene on chromosome #7. A positive diagnosis of WS will be confirmed if the patient only has one copy of the elastin gene instead of the standard two copies. About 95% to 98% of people with WS have this elastin deletion. The FISH test is available at major hospitals and genetics laboratories around the country, but it is not a routine test. To obtain a FISH test, call a hospital or laboratory in advance to find out if they can perform one. If they do not, they may be able to recommend a laboratory that does. Once a test date has been set up, the laboratory will need 5 ml of blood drawn in a Sodium heparin tube. Results are usually available within 2-4 weeks.
What's next?
The following steps should be taken as soon as possible after receiving a diagnosis of Williams Syndrome:
Williams Syndrome is named after a New Zealand cardiologist who, in 1956, described a series of patients with very similar distinctive physical and intellectual characteristics. It is a rare congenital disorder caused by the deletion of elastin and approximately twenty other genes on chromosome #7, and is characterized by a striking mix of physical and developmental characteristics. It affects males and females equally, and occurs in all ethnic groups. There is no known cure, or standard course of treatment. However, when Williams Syndrome is correctly diagnosed, it can be treated.
While the severity of symptoms varies among patients, common physical characteristics of Williams Syndrome include an excessively impulsive and outgoing personality, intellectual developmental delay and learning disabilities, mental retardation or attention deficit disorder. However, older children with Williams Syndrome often demonstrate intellectual "strengths," along with these developmental "weaknesses." People with Williams Syndrome display some highly developed intellectual areas such as verbal acuity, which often make them wonderful storytellers. They often have a striking musical ability, relatively good reading and phonics skills, and extremely strong social skills (where they may surpass the abilities of a child with normal abilities and intellect). Unfortunately, because of their remarkable verbal and social abilities, educators are often misled into thinking that these children have better reasoning skills than they actually possess, and in many cases these children do not get the academic support they need.
Research indicates that there are other genetic inconsistencies that contribute to Williams Syndrome. Extensive research still remains to be done to identify those genetic inconsistencies, and to develop prenatal testing in order to identify potential Williams Syndrome candidates.
Physical & Developmental Traits
Though all individuals with Williams Syndrome are unique, many of them share similar physical, developmental, cognitive and social characteristics.
Physical Traits: Many children with Williams Syndrome (WS) are said to have similar "elfin" facial features. They generally have a small, upturned nose with a low bridge, long upper lip length, wide mouth, full lips, small chin and puffiness around the eyes. Children with blue or green eyes may have a prominent "starburst," a white lacy pattern, on their iris. These facial features become more apparent with age. Individuals with WS are also of a slightly smaller-than-average stature.
Individuals with WS may suffer from physical problems, specifically heart or blood vessel problems. They typically have a narrowing in the aorta or pulmonary arteries, which can cause conditions such as supravalvular aortic stenosis. For this reason, it is necessary to keep an ongoing status of cardiac health. Young children with WS may also have hypercalcemia (high blood calcium levels), which causes extreme irritability. The condition usually resolves itself during childhood, but in some cases, dietary or medical treatment may be needed.
Developmental Patterns: Many of the developmental problems associated with WS occur during infancy. Most children with WS have a slightly lower birth-weight than average, and are slow to gain weight in their early years. They have feeding problems as infants, and can be fussy eaters as toddlers. Prolonged crying during infancy is also common. Developmental milestones, such as sitting, crawling and walking, are delayed in children with WS. They may also develop poor eyesight, dental problems and have difficulties with balance and motor skills. Also, due to highly sensitive hearing, children with WS are often bothered by loud noises (hyperacusis).
Cognitive Abilities: People with WS exhibit both cognitive strengths and weaknesses. They tend to have attention deficit disorders and may be "highly distractible." Intellectual weakness such as poor fine motor skills (writing, cutting) and spatial integration difficulties are common. People with WS also have exceptional intellectual strengths. They have a meaningful memory for people and places, and a good auditory memory (names, melodies, words to songs). People with WS are adept at using language, can express themselves poetically and are good storytellers. Many of them are musically gifted and have perfect pitch.
Social Behaviors: People with WS can best be described being social, outgoing and loving. They are friendly and talkative, and display no fear of strangers, even as young children. Children with WS usually prefer interacting with adults to their peers. They are affectionate and empathetic, and sometimes tend to be overly sensitive to the feelings of others. Apprehension to new ideas and resistance to change is common.
Getting Diagnosed
If you suspect your child or someone you know may have Williams Syndrome (WS), you can ask your doctor for a blood test to confirm a clinical diagnosis. A special technique known as fluorescent in situ hybridization (FISH) can determine whether there is a deletion of the elastin gene on chromosome #7. A positive diagnosis of WS will be confirmed if the patient only has one copy of the elastin gene instead of the standard two copies. About 95% to 98% of people with WS have this elastin deletion. The FISH test is available at major hospitals and genetics laboratories around the country, but it is not a routine test. To obtain a FISH test, call a hospital or laboratory in advance to find out if they can perform one. If they do not, they may be able to recommend a laboratory that does. Once a test date has been set up, the laboratory will need 5 ml of blood drawn in a Sodium heparin tube. Results are usually available within 2-4 weeks.
What's next?
The following steps should be taken as soon as possible after receiving a diagnosis of Williams Syndrome:
- Contact the Lili Claire Foundation.
- Alert your pediatrician of the diagnosis.
- Alert your school district (there are special education programs for children, from pre-school through high school, and beyond).
- Supply your school district with as much information as possible regarding Williams Syndrome.
- Schedule a therapeutic evaluation for your child (most children with Williams Syndrome benefit from speech, occupational and physical therapies).
- Utilize support services in your community such as parent support groups, associations for persons with mental retardation and developmental disorders, community health agencies, and your regional Williams Syndrome Association group.
- Investigate recreational programs for your child (swimming, sports, music and art).
- Continue recreational activities for yourself and your family.
- Enjoy life with your child. He or she has much to offer!
