Williams syndrome
is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems.
Williams syndrome (WS) 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 often occur side by side with striking verbal abilities, highly social personalities and an affinity for music.Sign & Symptoms.
· 1-specific facial features like a wide mouth, small upturned nose, widely spaced teeth, and full lips.
· 2-colic or feeding problems.
· 3-attention deficit disorder.
· 4-learning disorders.
· 5-inward bend of pinky finger.
· 6-specific phobias.
· 7-short stature.
· 8-speech delays. Causes
Williams Syndrome is caused by the deletion of roughly 25 genes on chromosome 7. The deletion can occur randomly during the production of a sperm or egg cell. Though there are 20,000 to 25,000 genes in the human genome, even the loss of just 25 genes can have profound effects on a person's physical, behavioral and cognitive make-up.
Why the deletion of genes causes such friendliness and social disinhibition is not well understood. The development of our personalities is a complex relationship between our social environment and our genes -- both present and not.
If you think most children -- with or without Williams -- are warm and open, you'd be wrong. Tager-Flusberg's research team has recorded hours of video comparing children with Williams to typically-developing children.
Infection timeThe history obtained from caregivers of patients with Williams syndrome varies and reflects the wide phenotypic spectrum observed in the syndrome. This includes a pattern of growth and development and a specific neurodevelopmental profile primarily involving 4 areas: cognitive development, language, auditory function, and visuospatial function, as in the following.
· Children have prenatal and postnatal growth delay and usually present with failure to thrive. Short stature is common in children who are shorter than their family background, and adults reach a mean height that is often below the third percentile. A history of feeding problems and poor weight gain is common.
· A history of recurrent middle ear infections and/or effusions in childhood and progressive mild-to-moderate high frequency sensorineural hearing loss is noted in most adolescents and adults.
· A history of visual disturbances is possible. These are mainly related to esotropia, cataracts, and hyperopia in as many as 50% of individuals with Williams syndrome.
· A history of congenital heart disease is common, and hypertension may be noted.
· In children, functional problems, including a history of increased urinary frequency and daytime wetting, is possible. Delayed toilet training is not uncommon. A history of renal abnormalities is also possible, as well as a history of hypercalcemia and hypercalciuria.
· A history of delayed bone age, and decreased insulinlike growth factor-1 (IGF1) levels may be noted. Early pubertal onset may be noted. Glucose tolerance or overt diabetes mellitus may be detected in patients older than 20 years; subclinical hypothyroidism may also be noted.
· A history of connective tissue abnormalities, such as abnormal joint mobility, hernias, and diverticula, is possible.
· Children may have histories of chronic abdominal pain, and they are at increased risk for celiac disease.
· Children with Williams syndrome typically have mild-to-moderate mental retardation, but the range includes severe mental retardation to average intelligence.Abilities should be considered on an individual basis due to the wide variability among individuals.Impaired motor development is often apparent before age 42 months.
· Early language acquisition is delayed,and although mild-to-moderate language impairments persist throughout life, the quality and affect of speech are relatively normal.
· Visual-spatial problems impact daily life, with difficulties in handwriting, drawing, and gait apraxia, especially on uneven or sandy surfaces.
· Interest and enthusiasm for music is almost
Term custody
If your older child is married and considering parenthood, then there’s probably one big question they’re desperate to know the answer to: “Will my child have the same disability as me?” The answer depends upon your child’s disability.
Some developmental disabilities are genetic – meaning that they are caused by abnormal genes – but not all genetic developmental disabilities are hereditary – meaning that the abnormal genes are inherited from one or both parents (who may or may not have the disability themselves). If a disability is not hereditary, then it cannot be passed down from parent to child. And even if a disability is hereditary, it doesn’t mean that a child will automatically inherit the disability. Let’s take a look at the most common genetic developmental disabilities to see which ones are hereditary:
· Most cases of Down syndrome are not inherited. More than 90 percent of cases of Down syndrome are caused by trisomy 21, a non-hereditary condition. Mosaic Down syndrome is also not inherited. Translocation Down syndrome is the only form of the disorder that can be passed down from parent to child. However, only about 4 percent of people with Down syndrome have translocation. And only about half of these cases are inherited (from one of the parents).
·Klinefelter syndrome is not inherited.
· Fragile X syndrome is inherited. A father can only pass the abnormal gene down to a daughter. A mother can pass the abnormal gene down to a daughter or son.
· An estimated 15-20% of cases of congenital hypothyroidism are inherited. There are two different patterns of inheritance – one which requires both parents to have the abnormal gene and one which requires only one parent to have the abnormal gene.
· In a small percentage of cases, Williams syndrome is inherited. It is inherited from one parent.
· Phenylketonuria is inherited. It must be inherited from both parents.
· In very rare cases, Prader-Willi syndrome is inherited. It is inherited from the father.
· Scientists don’t know exactly what causes autism spectrum disorders, though much evidence supports the idea that hereditary factors are one of the causes. Current evidence suggests that as many as 12 or more genes may be involved in autism to different degrees. Some genes may place a person at greater risk for autism, while other genes may cause specific symptoms or determine how severe those symptoms are. Research has also shown that environmental factors, such as viruses, may also play a role in autism. While some researchers are examining genes and environmental factors, other researchers are looking at possible neurological, infectious, metabolic, and immunologic factors that may be involved in autism. Because the disorder is so complex, and because no two people with autism are exactly alike, autism is probably the result of many causes.
Don't take our word for it. If your child or their partner has a hereditary disability, then they should consider genetic counseling before having a child.
Your child’s disability may also affect their ability to have children. Check with a genetics counselor or your child’s healthcare provider to see if fertility testing should be considered.
Types
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 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.. Abnormal sleep patterns with delayed acquisition of sleeping through the night may be associated with the colic. Extreme irritability may also be caused by hypercalcemia in some children with WS.
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 and/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 will have 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.
Acting pre-emptively For each actor, we selected seven morphs, ranging from somewhat happy to .dependency, distrust, and the belief in acting preemptively to avoid threat.Individuals with Williams Syndrome have a characteristic facial appearance.
Prevention
There is currently no known method of prevention against Williams syndrome. Nearly all cases of the disorder occur randomly and are not inherited. However, people with Williams syndrome may pass the disorder to their children.
Early diagnosis and prompt treatment is important to ensure that a person with Williams syndrome maximizes his/her intellectual potential. This is because therapy has been shown to be most effective when started early in life.
People who are diagnosed with Williams syndrome should regularly visit their doctors and cardiologists (heart doctors) to monitor their conditions and help prevent complications.
Treatment
Syp Willzole (1 Teasponful TDS)
CAP Willzole (1 Cap TDS)
· Fragile X syndrome is inherited. A father can only pass the abnormal gene down to a daughter. A mother can pass the abnormal gene down to a daughter or son.
· An estimated 15-20% of cases of congenital hypothyroidism are inherited. There are two different patterns of inheritance – one which requires both parents to have the abnormal gene and one which requires only one parent to have the abnormal gene.
· In a small percentage of cases, Williams syndrome is inherited. It is inherited from one parent.
· Phenylketonuria is inherited. It must be inherited from both parents.
· In very rare cases, Prader-Willi syndrome is inherited. It is inherited from the father.
· Scientists don’t know exactly what causes autism spectrum disorders, though much evidence supports the idea that hereditary factors are one of the causes. Current evidence suggests that as many as 12 or more genes may be involved in autism to different degrees. Some genes may place a person at greater risk for autism, while other genes may cause specific symptoms or determine how severe those symptoms are. Research has also shown that environmental factors, such as viruses, may also play a role in autism. While some researchers are examining genes and environmental factors, other researchers are looking at possible neurological, infectious, metabolic, and immunologic factors that may be involved in autism. Because the disorder is so complex, and because no two people with autism are exactly alike, autism is probably the result of many causes.
Don't take our word for it. If your child or their partner has a hereditary disability, then they should consider genetic counseling before having a child.
Your child’s disability may also affect their ability to have children. Check with a genetics counselor or your child’s healthcare provider to see if fertility testing should be considered.
Types
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 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.. Abnormal sleep patterns with delayed acquisition of sleeping through the night may be associated with the colic. Extreme irritability may also be caused by hypercalcemia in some children with WS.
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 and/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 will have 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.
Acting pre-emptively For each actor, we selected seven morphs, ranging from somewhat happy to .dependency, distrust, and the belief in acting preemptively to avoid threat.Individuals with Williams Syndrome have a characteristic facial appearance.
Prevention
There is currently no known method of prevention against Williams syndrome. Nearly all cases of the disorder occur randomly and are not inherited. However, people with Williams syndrome may pass the disorder to their children.
Early diagnosis and prompt treatment is important to ensure that a person with Williams syndrome maximizes his/her intellectual potential. This is because therapy has been shown to be most effective when started early in life.
People who are diagnosed with Williams syndrome should regularly visit their doctors and cardiologists (heart doctors) to monitor their conditions and help prevent complications.
Treatment
Syp Willzole (1 Teasponful TDS)
CAP Willzole (1 Cap TDS)
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