“I started running four years ago to quit smoking. Now, I run to show my son, Fritz, that you can do anything you set your mind to, so long as you are willing to keep putting one foot in front of the other. Team NDSS has been a great way for me to help NDSS continue their important work for our kiddos and family members. Wearing NDSS gear at local races here in Arkansas has given me a chance to talk to other runners, dispel myths about Down syndrome and promote the work of NDSS.”— Chris Attig

National Down Syndrome Society (ndss)

What is Down Syndrome?

October was first designated as Down Syndrome Awareness Month in the 1980s and has been recognized every October since. It is a time to celebrate people with Down syndrome and make others aware of their abilities and accomplishments.

Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small “packages” of genes in the body. They determine how a baby’s body forms during pregnancy and how the baby’s body functions as it grows in the womb and after birth. Typically, a baby is born with 46 chromosomes. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21. A medical term for having an extra copy of a chromosome is ‘trisomy.’ Down syndrome is also referred to as Trisomy 21. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby.

Even though people with Down syndrome might act and look similar, each person has different abilities. People with Down syndrome usually have an IQ (a measure of intelligence) in the mildly-to-moderately low range and are slower to speak than other children.

Some common physical features of Down syndrome include:

• A flattened face, especially the bridge of the nose
• Almond-shaped eyes that slant up
• A short neck
• Small ears
• A tongue that tends to stick out of the mouth
• Tiny white spots on the iris (colored part) of the eye
• Small hands and feet
• A single line across the palm of the hand (palmar crease)
• Small pinky fingers that sometimes curve toward the thumb
• Poor muscle tone or loose joints
• Shorter in height as children and adults

How Many Babies are Born with Down Syndrome?

Down syndrome remains the most common chromosomal condition diagnosed in the United States. Each year, about 6,000 babies born in the United States have Down syndrome. This means that Down syndrome occurs in about 1 in every 700 babies.¹

Types of Down Syndrome

There are three types of Down syndrome. People often can’t tell the difference between each type without looking at the chromosomes because the physical features and behaviors are similar.

• Trisomy 21: About 95% of people with Down syndrome have Trisomy 21.² With this type of Down syndrome, each cell in the body has 3 separate copies of chromosome 21 instead of the usual 2 copies.
• Translocation Down syndrome: This type accounts for a small percentage of people with Down syndrome (about 3%).² This occurs when an extra part or a whole extra chromosome 21 is present, but it is attached or “trans-located” to a different chromosome rather than being a separate chromosome 21.
• Mosaic Down syndrome: This type affects about 2% of the people with Down syndrome.² Mosaic means mixture or combination. For children with mosaic Down syndrome, some of their cells have 3 copies of chromosome 21, but other cells have the typical two copies of chromosome 21. Children with mosaic Down syndrome may have the same features as other children with Down syndrome. However, they may have fewer features of the condition due to the presence of some (or many) cells with a typical number of chromosomes.

Causes and Risk Factors

• The extra chromosome 21 leads to the physical features and developmental challenges that can occur among people with Down syndrome. Researchers know that Down syndrome is caused by an extra chromosome, but no one knows for sure why Down syndrome occurs or how many different factors play a role.
• One factor that increases the risk for having a baby with Down syndrome is the mother’s age. Women who are 35 years or older when they become pregnant are more likely to have a pregnancy affected by Down syndrome than women who become pregnant at a younger age.^3-5However, the majority of babies with Down syndrome are born to mothers less than 35 years old, because there are many more births among younger women.^6,7

Diagnosis

There are two basic types of tests available to detect Down syndrome during pregnancy: screening tests and diagnostic tests. A screening test can tell a woman and her healthcare provider whether her pregnancy has a lower or higher chance of having Down syndrome. Screening tests do not provide an absolute diagnosis, but they are safer for the mother and the developing baby. Diagnostic tests can typically detect whether or not a baby will have Down syndrome, but they can be more risky for the mother and developing baby. Neither screening nor diagnostic tests can predict the full impact of Down syndrome on a baby; no one can predict this.

Screening Tests

Screening tests often include a combination of a blood test, which measures the amount of various substances in the mother’s blood (e.g., MS-AFP, Triple Screen, Quad-screen), and an ultrasound, which creates a picture of the baby. During an ultrasound, one of the things the technician looks at is the fluid behind the baby’s neck. Extra fluid in this region could indicate a genetic problem. These screening tests can help determine the baby’s risk of Down syndrome. Rarely, screening tests can give an abnormal result even when there is nothing wrong with the baby. Sometimes, the test results are normal and yet they miss a problem that does exist.

Diagnostic Tests

Diagnostic tests are usually performed after a positive screening test in order to confirm a Down syndrome diagnosis. Types of diagnostic tests include:

• Chorionic villus sampling (CVS)—examines material from the placenta
• Amniocentesis—examines the amniotic fluid (the fluid from the sac surrounding the baby)
• Percutaneous umbilical blood sampling (PUBS)—examines blood from the umbilical cord

These tests look for changes in the chromosomes that would indicate a Down syndrome diagnosis.

Other Health Problems

Many people with Down syndrome have the common facial features and no other major birth defects. However, some people with Down syndrome might have one or more major birth defects or other medical problems. Some of the more common health problems among children with Down syndrome are listed below.⁸

• Hearing loss
• Obstructive sleep apnea, which is a condition where the person’s breathing temporarily stops while asleep
• Ear infections
• Eye diseases
• Heart defects present at birth

Health care providers routinely monitor children with Down syndrome for these conditions.

Treatments

Down syndrome is a lifelong condition. Services early in life will often help babies and children with Down syndrome to improve their physical and intellectual abilities. Most of these services focus on helping children with Down syndrome develop to their full potential. These services include speech, occupational, and physical therapy, and they are typically offered through early intervention programs in each state. Children with Down syndrome may also need extra help or attention in school, although many children are included in regular classes.

“About 75% of the 2 million brain injuries yearly accounts for a closed brain injury. This means that nothing directly touches the brain. Not all brain injuries are the same; they differ from their severity. Others may appear minor but later on, significant symptoms can appear.

A closed brain injury can come from a sharp blow in the head that shakes and traumatize the brain. A common example is a concussion. Since it is closed, the extent of the injury cannot be identified immediately by the naked eye.

This type of head injury can be caused by falls, sports, vehicular accidents, and acts of violence. About 35.2% of closed head injury is caused by fall. Falls are common to toddlers and kids and elderly.

Open head injuries are considered serious and traumatic. They require medical help immediately. Due to the open wound, patients can suffer from infection and contamination.”

Brain Injury Institute

(Brain Injury Types | Brain Injury Institute  www.braininjuryinstitute.org)

A Brain Injury is damage to the brain that results in a loss of function such as mobility or feeling.  Brain injury can also cause cognitive dysfunction.

Traumatic Brain Injuries can result from a closed head injury or a penetrating head injury.

There are two broad types of head injuries: Penetrating and non-penetrating.

1. Penetrating Injury: A penetrating injury occurs when an object pierces the skull and enters brain tissue. As the first line of defense, the skull is particularly vulnerable to injury. Skull fractures occur when the bone of the skull cracks or breaks. A depressed skull fracture occurs when pieces of the broken skull press into the tissue of the brain. A penetrating skull fracture occurs when something pierces the skull, such as a bullet, leaving a distinct and localized injury to brain tissue. Skull fractures can cause cerebral contusion. Brain trauma occurs when a person has an injury to the brain, and can be mild or severe. When a person sustains trauma or injury to the brain, he or she may lose motor functions along with cognitive and physical abilities. Physicians use the Glasgow Coma Scale to determine the extent of brain trauma. This is a neurological scale that measures the level of a person’s consciousness.  A mild injury may cause temporary symptoms, like a concussion; while a severe injury could require years of rehabilitation, like a stoke or tumor.
2. Closed Injury:  A closed injury occurs when the head suddenly and violently hits an object but the object does not break through the skull. It is caused by an external force strong enough to move the brain within the skull. Causes include falls, motor vehicle crashes, sports injuries, blast injury, or being struck by an object.

There are two most common types of brain trauma, which are:

1. traumatic brain injuries  2. acquired brain injuries.

1-Traumatic brain injury

This occurs from external force on the head or neck. These injuries can occur from blows to the head or aggressive twisting of the neck. Some ways this could happen include falls, motor vehicle accidents, sports, and vigorous shaking. In infants, Shaken Baby Syndrome is a type of traumatic brain injury.

2-Acquired brain injury

This means simply you got this injury after you were born and it was caused by a condition or illness after birth. This type of injury can result from several different causes like strokes, toxic poisoning or brain tumors. Degenerative diseases and lack of oxygen may also cause this type of brain trauma. Here are some examples of acquired brain injuries:

-Bleeding in the brain which can lead to brain injury. Blood Vessels in the brain can rupture resulting in an intra-cerebral hemmorage (one of the causes of a stroke). Symptoms may include headaches, loss of vision, weakness to one side of the body and eye pain to even garbled speech.

-Anoxia is another insult to the brain that can cause injury to it. Anoxia is a condition in which there is an absence of oxygen supply to an organ’s tissues, even if there is adequate blood flow to the tissue.  Common causes of anoxia are near drowning, choking, suffocation, strangulation, heart attacks, lung damage, or very low blood pressure.

–Hypoxia refers to a decrease in oxygen supply rather than a complete absence of oxygen, and ischemia is inadequate blood supply, as is seen in cases in which the brain swells. In any of these cases, without adequate oxygen, a biochemical cascade called the ischemic cascade is unleashed, and the cells of the brain can die within several minutes. This type of injury is often seen in near-drowning victims, in heart attack patients, or in people who suffer significant blood loss from other injuries that decrease blood flow to the brain decreasing oxygen supply to the tissue.

-Toxemia, which is poisoning from chemical or biological factors that can damage the brain. Toxemia can be caused by drugs, chemicals of several types, gases or even toxic foods.

-Viruses or types of bacteria. An infection of the brain can be very damaging; here are some examples:

*Meningitis is a inflammation of the lining around the brain or spinal cord, usually due to infection; Neck stiffness, headache, fever, and confusion are common symptoms.

*Encephalitis (en-sef-uh-LIE-tis) is inflammation of the brain. Viral infections are the most common cause of the condition. Encephalitis can cause flu-like symptoms, such as a fever or severe headache. It can also cause confused thinking, seizures, or problems with senses or movement.

**HIV can lead to brain injury. HIV, can affect the brain in different ways. HIV-meningoencephalitis is infection of the brain and the lining of the brain by the HIV virus. It occurs shortly after the person is first infected with HIV and may cause headache, neck stiffness, drowsiness, confusion and/or seizures. HIV-encephalopathy (HIV-associated dementia) is the result of damage to the brain by longstanding HIV infection.  It is a form of dementia and occurs in advanced HIV infection. Mild Neurocognitive Disorder is problems with thinking and memory in HIV, however is not as severe as HIV-encephalopathy. Unlike HIV-encephalopathy it can occur early in HIV infection and is not a feature of Aquired Immune Deficiency Syndrome – AIDS.

*Lastly Herpes. There are two types of herpes simplex virus (HSV). Either type can cause encephalitis. HSV type 1 (HSV-1) is usually responsible for cold sores or fever blisters around your mouth, and HSV type 2 (HSV-2) commonly causes genital herpes. Encephalitis caused by HSV-1 is rare, but it has the potential to cause significant brain damage or death.

*Other herpes viruses. Other herpes viruses that may cause encephalitis include the Epstein-Barr virus, which commonly causes infectious mononucleosis, and the varicella-zoster virus, which commonly causes chickenpox and shingles.*Viral infections due to blood sucking insects like mosquitoes and ticks to animals with rabies a rapid progression to encephalitis once symptoms begin. Rabies is a rare cause of encephalitis in the U.S.

When a person is diagnosed with a brain trauma, doctors will decide if rehabilitation is needed. Rehabilitation programs may vary depending on the type of brain injury and estimated recovery time. Treatment usually consists of physical therapy and daily activities. In extreme cases, patients may need to learn how to read and write again.

Therapy for brain trauma typically takes place on an outpatient basis or through an assisted living facility. Therapy may last several weeks, months or even years, and sometimes the patient is not able to make a full recovery.

It may not always be obvious when a person has sustained a brain injury. The patient may have hit his or her head and not have symptoms until a few hours later. Some signs of a possible brain injury are headaches, confusion and loss of memory. If brain trauma is not treated, it could cause permanent damage or death.

Brain injuries can affect the patient and the patient’s family, with emotional and financial hardship. When problems arise with treatment or financial issues, a specialist or brain injury lawyer may need to intervene.

“The main treatment for severe hemophilia involves replacing the clotting factor you need through a tube in a vein.

This replacement therapy can be given to treat a bleeding episode in progress. It can also be given on a regular schedule at home to help prevent bleeding episodes. Some people receive continuous replacement therapy.

Replacement clotting factor can be made from donated blood. Similar products, called recombinant clotting factors, are made in a laboratory, not from human blood.”

MAYO CLINIC (Hemophilia – Diagnosis and treatment – Mayo Clinic)

“CDC states the following about hemophilia:

• As many as 33,000 males are estimated to be living with hemophilia in the United States.
• Hemophilia is associated with spontaneous (unexplained) bleeding and excessive bleeding after injury. This can include repeated bleeding within joints that can lead to chronic joint disease.
• Bleeding symptoms in females with hemophilia are usually milder than symptoms in males with hemophilia. Nonetheless, females with hemophilia have been found to have reduced joint range of motion compared with females with no bleeding disorder.

Incidence and prevalence

• • The exact number of people living with hemophilia in the United States is not known. A CDC study that used data collected on patients receiving care in federally funded hemophilia treatment centers during the period 2012–2018 estimated that as many as 33,000 males in the United States are living with the disorder.
  • Hemophilia A (low levels of clotting factor VIII [8]) is three to four times as common as hemophilia B (low levels of clotting factor IX [9]).
  • Among all males with hemophilia, just over 4 in 10 have the severe form of the disorder.

Center for Disease Control and Prevention

(Data and Statistics on Hemophilia | Hemophilia | CDC)

“Did you know that our special month for raising awareness about bleeding disorders has been around for almost 40 years? It all started back in 1986 when President Reagan set aside March as National Hemophilia Awareness Month. This happened during a really tough time when many in our hemophilia family were affected by contaminated blood products.

For about 30 years, the focus was mainly on hemophilia. But in 2016, something important changed – the month was officially renamed to “Bleeding Disorders Awareness Month.” This new name recognized that our community includes people with many different conditions – not just hemophilia, but also von Willebrand disease and other bleeding disorders.

According to the U.S. Centers for Disease Control, there are about 3 million people nationwide who are affected by bleeding disorders.

Between 30,000 and 33,000 people in the U.S. are thought to live with hemophilia. The most common bleeding disorder is von Willebrand disease (VWD), which affects about 1 in every 100 people.”

National Bleeding Disorders Foundation, formerly NHF

(Bleeding Disorders Awareness Month | National Bleeding Disorders Foundation)

“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 challenges. These often occur side by side with striking verbal abilities, highly social personalities, and an affinity for music. WS occurs equally in males and females and in all cultures worldwide.”

Williams Syndrome Association (What is Williams syndrome? | Williams Syndrome Association)

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.  The most significant medical problem associated with WS is the cardiovascular disease caused by the narrowed arteries. WS is also associated with elevated blood calcium levels in infancy. A random genetic mutation (deletion of a small piece of chromosome 7), rather than inheritance, most often causes the disorder. Williams syndrome is considered an autosomal dominant condition because one copy of the altered chromosome 7 in each cell is sufficient to cause the disorder. In a small percentage of cases, people with Williams syndrome inherit the chromosomal deletion from a parent with the condition.

Most cases of Williams syndrome are not inherited but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual. These cases occur in people with no history of the disorder in their family.

However, individuals who have WS have a 50 percent chance of passing it on if they decide to have children. These often occur side by side with striking verbal abilities, highly social personalities and an affinity for music.

WS affects 1 in 7,500 – 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 Williams syndrome 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. As adults, most people with Williams syndrome will need supportive housing to live to their fullest potential.  Many adults with WS contribute to their communities as volunteers or paid employees; often working at assisted living homes for senior citizens, hospitals and libraries, or as store greeters or veterinary aides.

However, individuals who have WS have a 50 percent chance of passing it on if they decide to have children. The characteristic facial features of WS include puffiness around the eyes, a short nose with a broad nasal tip, wide mouth, full cheeks, full lips, and a small chin. People with WS are also likely to have a long neck, sloping shoulders, short stature, limited mobility in their joints, and curvature of the spine. Some individuals with WS have a star-like pattern in the iris of their eyes. Infants with WS are often irritable and colicky, with feeding problems that keep them from gaining weight. Chronic abdominal pain is common in adolescents and adults. By age 30, the majority of individuals with WS have diabetes or pre-diabetes and mild to moderate sensorineural hearing loss (a form of deafness due to disturbed function of the auditory nerve). For some people, hearing loss may begin as early as late childhood. WS also is associated with a characteristic “cognitive profile” of mental strengths and weaknesses composed of strengths in verbal short-term memory and language, combined with severe weakness in visuospatial construction (the skills used to copy patterns, draw, or write). Most older children and adults with WS speak fluently and use good grammar. More than 50% of children with WS have attention deficit disorders (ADD or ADHD), and about 50% have specific phobias, such as a fear of loud noises. The majority of individuals with WS worry excessively.

Unfortunately there is no cure for Williams syndrome, nor is there a standard course of treatment.

The prognosis for individuals with WS varies. Some degree of impaired intellect is found in most people with the disorder. Some adults are able to function independently, complete academic or vocational school, and live in supervised homes or on their own; most live with a caregiver.

Where you can find additional information about Williams syndrome:

You may find the following resources about Williams syndrome helpful. These materials are written for the general public.

• MedlinePlus – Health information (4 links)

• Genetic and Rare Diseases Information Center – Information about genetic conditions and rare diseases (2 links)

• Additional NIH Resources – National Institutes of Health (2 links)

• Educational resources – Information pages (7 links)