Williams Syndrome Resources: Down Syndrome Resources: Autism Resources:
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Williams Syndrome | Down Syndrome | Autism Williams Syndrome
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: 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: Cognitive Abilities: Social Behaviors:
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?
For more information visit: The Williams Syndrome Association Media Packet -Back to top of the page- -Back to Family Resource Page- Down Syndrome
Diagnosis Down syndrome is usually identified at birth or shortly thereafter. Initially the diagnosis is based on physical characteristics that are commonly seen in babies with Down syndrome. These include low muscle tone, a single crease across the palm of the hand, a slightly flattened facial profile and an upward slant to the eyes. The diagnosis must be confirmed by a chromosome study (karyotype). A karyotype provides a visual display of the chromosomes grouped by their size, number and shape. Chromosomes may be studied by examining blood or tissue cells. Cause Down syndrome is usually caused by an error in cell division called nondisjunction. It is not known why this occurs. However, it is known that the error occurs at conception and is not related to anything the mother did during pregnancy. It has been known for some time that the incidence of Down syndrome increases with advancing maternal age. However, 80% of children with Down syndrome are born to women under 35 years of age. Health Issues
For more information visit: -Back to top of the page- -Back to Family Resource Page- Autism What is autism?
What are some common signs of autism? There are three distinctive behaviors that characterize autism. Autistic children have difficulties with social interaction, problems with verbal and nonverbal communication, and repetitive behaviors or narrow, obsessive interests. These behaviors can range in impact from mild to disabling. The hallmark feature of autism is impaired social interaction. Parents are usually the first to notice symptoms of autism in their child. As early as infancy, a baby with autism may be unresponsive to people or focus intently on one item to the exclusion of others for long periods of time. A child with autism may appear to develop normally and then withdraw and become indifferent to social engagement. Children with autism may fail to respond to their name and often avoid eye contact with other people. They have difficulty interpreting what others are thinking or feeling because they can't understand social cues, such as tone of voice or facial expressions, and don't watch other people's faces for clues about appropriate behavior. They lack empathy. Many children with autism engage in repetitive movements such as rocking and twirling, or in self-abusive behavior such as biting or head-banging. They also tend to start speaking later than other children and may refer to themselves by name instead of "I" or "me." Children with autism don't know how to play interactively with other children. Some speak in a sing-song voice about a narrow range of favorite topics, with little regard for the interests of the person to whom they are speaking. Many children with autism have a reduced sensitivity to pain, but are abnormally sensitive to sound, touch, or other sensory stimulation. These unusual reactions may contribute to behavioral symptoms such as a resistance to being cuddled or hugged. Children with autism appear to have a higher than normal risk for certain co-existing conditions, including fragile X syndrome (which causes mental retardation), tuberous sclerosis (in which tumors grow on the brain), epileptic seizures, Tourette syndrome, learning disabilities, and attention deficit disorder. For reasons that are still unclear, about 20 to 30 percent of children with autism develop epilepsy by the time they reach adulthood. While people with schizophrenia may show some autistic-like behavior, their symptoms usually do not appear until the late teens or early adulthood. Most people with schizophrenia also have hallucinations and delusions, which are not found in autism. How is autism diagnosed? Autism varies widely in its severity and symptoms and may go unrecognized, especially in mildly affected children or when it is masked by more debilitating handicaps. Doctors rely on a core group of behaviors to alert them to the possibility of a diagnosis of autism. These behaviors are:
Autism is a complex disorder. A comprehensive evaluation requires a multidisciplinary team including a psychologist, neurologist, psychiatrist, speech therapist, and other professionals who diagnose children with ASDs. The team members will conduct a thorough neurological assessment and in-depth cognitive and language testing. Because hearing problems can cause behaviors that could be mistaken for autism, children with delayed speech development should also have their hearing tested. After a thorough evaluation, the team usually meets with parents to explain the results of the evaluation and present the diagnosis. Children with some symptoms of autism, but not enough to be diagnosed with classical autism, are often diagnosed with PDD-NOS. Children with autistic behaviors but well-developed language skills are often diagnosed with Asperger syndrome. Children who develop normally and then suddenly deteriorate between the ages of 3 to 10 years and show marked autistic behaviors may be diagnosed with childhood disintegrative disorder. Girls with autistic symptoms may be suffering from Rett syndrome, a sex-linked genetic disorder characterized by social withdrawal, regressed language skills, and hand wringing. What causes autism? Scientists aren't certain what causes autism, but it's likely that both genetics and environment play a role. Researchers have identified a number of genes associated with the disorder. Studies of people with autism have found irregularities in several regions of the brain. Other studies suggest that people with autism have abnormal levels of serotonin or other neurotransmitters in the brain. These abnormalities suggest that autism could result from the disruption of normal brain development early in fetal development caused by defects in genes that control brain growth and that regulate how neurons communicate with each other. While these findings are intriguing, they are preliminary and require further study. The theory that parental practices are responsible for autism has now been disproved.
Recent studies strongly suggest that some people have a genetic predisposition to autism. In families with one autistic child, the risk of having a second child with the disorder is approximately 5 percent, or one in 20. This is greater than the risk for the general population. Researchers are looking for clues about which genes contribute to this increased susceptibility. In some cases, parents and other relatives of an autistic child show mild impairments in social and communicative skills or engage in repetitive behaviors. Evidence also suggests that some emotional disorders, such as manic depression, occur more frequently than average in the families of people with autism. Do symptoms of autism change over time? For many children, autism symptoms improve with treatment and with age. Some children with autism grow up to lead normal or near-normal lives. Children whose language skills regress early in life, usually before the age of 3, appear to be at risk of developing epilepsy or seizure-like brain activity. During adolescence, some children with autism may become depressed or experience behavioral problems. Parents of these children should be ready to adjust treatment for their child as needed. How is autism treated? There is no cure for autism. Therapies and behavioral interventions are designed to remedy specific symptoms and can bring about substantial improvement. The ideal
treatment plan coordinates therapies and interventions that target the core symptoms of autism: impaired social interaction, problems with verbal and nonverbal communication, and
obsessive or repetitive routines and interests. Most professionals agree that the earlier the intervention, the better.
What research is being done?
As part of the Children's Health Act of 2000, the NINDS and three sister institutes have formed the NIH Autism Coordinating Committee to expand, intensify, and coordinate
NIH's autism research. Eight dedicated research centers across the country have been established as "Centers of Excellence in Autism Research" to bring together researchers and the
resources they need. The Centers are conducting basic and clinical research, including investigations into causes, diagnosis, early detection, prevention, and treatment, such as the
studies highlighted below:
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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.
Getting Diagnosed
Down syndrome is a genetic condition that causes delays
in physical and intellectual development. It occurs in approximately one in every 800 live births. Individuals with Down syndrome have 47 chromosomes instead of the usual 46. It is the
most frequently occurring chromosomal disorder. Down syndrome is not related to race, nationality, religion or socioeconomic status. The most important fact to know about individuals
with Down syndrome is that they are more like others than they are different.
Many children with Down syndrome have health complications beyond the usual childhood illnesses. Approximately 40% of the children have congenital heart defects. It is very
important that an echocardiogram be performed on all newborns with Down syndrome in order to identify any serious cardiac problems that might be present. Some of the heart conditions
require surgery while others only require careful monitoring. Children with Down syndrome have a higher incidence of infection, respiratory, vision and hearing problems as well as
thyroid and other medical conditions. However, with appropriate medical care most children and adults with Down syndrome can lead healthy lives. The average life expectancy of
individuals with Down syndrome is 55 years, with many living into their sixties and seventies.
Autism (sometimes called "classical autism") is the most common condition in a group of developmental disorders known as the autism spectrum disorders (ASDs). Autism is
characterized by impaired social interaction, problems with verbal and nonverbal communication, and unusual, repetitive, or severely limited activities and interests. Other ASDs include
Asperger syndrome, Rett syndrome, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified (usually referred to as PDD-NOS). Experts estimate that
three to six children out of every 1,000 will have autism. Males are four times more likely to have autism than females.
Doctors will often use a questionnaire or other screening instrument to
gather information about a child's development and behavior. Some screening instruments rely solely on parent observations; others rely on a combination of parent and doctor
observations. If screening instruments indicate the possibility of autism, doctors will ask for a more comprehensive evaluation.
What role does inheritance play?
The National Institute of Neurological Disorders and Stroke
(NINDS) is one of the federal government's leading supporters of biomedical research on brain and nervous system disorders. The NINDS conducts research in its laboratories at the
National Institutes of Health in Bethesda, Maryland , and also awards grants to support research at universities and other facilities.The Lili Claire Foundation • 2800 28th Street, Suite 160, Santa Monica, California, 90405 •
Phone • 310.396.4355 • Fax • 310.396.2127 • Email staff@liliclairefoundation.org •
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