Frequently Asked Questions
What is Autism?
Autism is a lifelong, neurodevelopmental disorder characterized by difficulty with socialization and communication skills. It can result in mild to severe difficulties in thinking and learning and is frequently marked by unusual interests and repetitive behaviors such as twirling, rocking, and flapping one’s hands. Autism can significantly impede an individual’s ability to lead a fulfilling life and mature to independence. It is believed to be a dysfunction in the central nervous system (the brain and spinal cord). Although knowledge of the possible causes and effective treatment of autism is growing, to date, no cure exists. Symptoms typically occur by the time a child is three years old.
What is the Autism Spectrum
Autism is one specific condition within a larger group of conditions known as Autism Spectrum Disorders (ASD). You may find the words autism, ASD and Pervasive Developmental Disorders (PDD) are used interchangeably. The word “spectrum” is important in understanding autism because it refers to the wide range of behavioral signs, symptoms, and degrees of severity that affect individuals. Individuals on the autism spectrum include those with Autistic Disorder, Pervasive Developmental Disorders, and Asperger Disorder. In addition, Rett Syndrome and Childhood Disintegrative Disorder – two very rare, but serious disorders – are also included under the Pervasive Developmental Disorders . Each individual on the autism spectrum is just that – an individual. Their unique characteristics and needs are specific to them alone.
Despite their individual differences, many people with an ASD share similar struggles. Individuals with an ASD often have difficulty understanding, initiating and/or maintaining conversations and interpreting what others are thinking, feeling or saying. In addition to difficulties in socializing and communicating, many have unusual ways of playing, paying attention, and reacting to different sensations and situations. This sensitivity to sensory stimulation can make life extremely challenging. Environmental conditions, such as certain sounds, smells or textures, that are acceptable to others can be intolerable to someone with an ASD. Some people with an ASD become overly focused on a very narrow interest such as a specific topic or object. They may be resistant to changes in routine and seek to adhere to rituals. Individuals with an ASD often have difficulty regulating their behavior and may engage in self-comforting or self-stimulating behaviors. As a result of these characteristics, everyday situations can become a challenge for individuals with an ASD and their families.
Faced with these tremendous challenges, people on the autism spectrum often need significant supports and understanding to enjoy a meaningful and successful life. The challenges of raising a child with an ASD can place enormous stress on the entire family. It is essential that a family with a loved one who has an ASD understand the impact of this disability on their family, surround themselves with a network of supports and appropriate services and be vigilant in seeking the help they need.
Who does Autism affect?
The ASDs occur in all racial, ethnic, and socioeconomic groups, and except for Rett’s Disorder, are four times more likely to occur in boys than in girls. Children who have a sibling or a parent with an ASD should be observed carefully, as recent studies suggest that some people may have a genetic predisposition to autism. In families that have one child with autism, scientists have found the risk of having a second child with the disorder is 1 in 20, or 5 percent.
How common is Autism?
ASDs are the fastest-growing diagnoses among the developmental disabilities in the United States. According to the Autism Society of America, the diagnosis of autism is increasing at a rate of 10 to 17 percent a year. Depending on the reporting methods used, recent estimates of ASD prevalence range between 1 in every 150 children to and 1 in every 91 children having a diagnosis of ASD. At this rate, ASDs are more common than pediatric cancer, diabetes and AIDS combined.
What is Cerebral Palsy?
Cerebral palsy (CP) is a group of disorders that affect a person’s ability to move and maintain balance and posture. CP is the most common motor disability in childhood. CP is caused by abnormal brain development or damage to the developing brain that affects a person’s ability to control his or her muscles. The symptoms of CP vary from person to person. A person with severe CP might need to use special equipment to be able to walk, or might not be able to walk at all and might need lifelong care. A person with mild CP, on the other hand, might walk a little awkwardly, but might not need any special help. CP does not get worse over time, though the exact symptoms can change over a person's lifetime. Many people also have related conditions such as intellectual disability ; seizures; problems with vision ,hearing, or speech; changes in the spine (such as scoliosis); or joint problems (such as contractures).
What are the types of Cerebral Palsy?
Doctors classify CP according to the main type of movement disorder involved. Depending on which areas of the brain are affected.
There are four main types of CP: Spastic Cerebral Palsy: The most common type of CP is spastic CP. Spastic CP affects about 80% of people with CP. People with spastic CP have increased muscle tone. This means their muscles are stiff and, as a result, their movements can be awkward. Spastic CP usually is described by what parts of the body are affected.
Dyskinetic Cerebral Palsy: People with dyskinetic CP have problems controlling the movement of their hands, arms, feet, and legs, making it difficult to sit and walk. The movements are uncontrollable and can be slow and writhing or rapid and jerky. Sometimes the face and tongue are affected and the person has a hard time sucking, swallowing, and talking. A person with dyskinetic CP has muscle tone that can change (varying from too tight to too loose) not only from day to day, but even during a single day.
Ataxic Cerebral Palsy: People with ataxic CP have problems with balance and coordination. They might be unsteady when they walk. They might have a hard time with quick movements or movements that need a lot of control, like writing. They might have a hard time controlling their hands or arms when they reach for something.
Mixed Cerebral Palsy: Some people have symptoms of more than one type of CP. The most common type of mixed CP is spastic-dyskinetic CP.
What are the early signs?
The signs of CP vary greatly because there are many different types and levels of disability. The main sign that a child might have CP is a delay reaching motor or movement milestones (such as rolling over, sitting, standing, or walking). Following are some other signs of possible CP. It is important to note that some children without CP also might have some of these signs.
- In a Baby Younger Than 6 Months of Age
- The baby's head lags when you pick him up while he’s lying on his back
- The baby feels stiff
- The baby feels floppy
- When held cradled in your arms, the baby seems to overextend his back and neck, constantly acting as if he is pushing away from you
- When you pick him/her up, the baby's legs get stiff and they cross or scissor
- In a Baby Older Than 6 Months of Age
- The baby doesn’t roll over in either direction
- The baby cannot bring her hands together
- The baby has difficulty bringing her hands to her mouth
- The baby reaches out with only one hand while keeping the other fisted
- In a Baby Older Than 10 Months of Age
- The baby crawls in a lopsided manner, pushing off with one hand and leg while dragging the opposite hand and leg
- The baby scoots around on his buttocks or hops on his knees, but does not crawl on all fours
Screening and diagnosis?
Diagnosing CP at an early age is important to the well-being of children and their families. Diagnosing CP can take several steps:
Developmental Monitoring : Developmental monitoring (also called surveillance) means tracking a child’s growth and development over time. If any concerns about the child’s development are raised during monitoring, then a developmental screening test should be given as soon as possible.
Developmental Screening: During developmental screening a short test is given to see if the child has specific developmental delays, such as motor or movement delays. If the results of the screening test are cause for concern, then the doctor will make referrals for developmental and medical evaluations.
Developmental and Medical Evaluations: The goal of a developmental evaluation is to diagnose the specific type of disorder that affects a child.
Are their treatments and intervention services?
There is no cure for CP, but treatment can improve the lives of those who have the condition. It is important to begin a treatment program as early as possible. After a CP diagnosis is made, a team of health professionals works with the child and family to develop a plan to help the child reach his or her full potential. Common treatments include medicines; surgery; braces; and physical, occupational, and speech therapy. No single treatment is the best one for all children with CP. Before deciding on a treatment plan, it is important to talk with the child’s doctor to understand all the risks and benefits.
What are the causes and risk factors?
CP is caused by abnormal development of the brain or damage to the developing brain that affects a child’s ability to control his or her muscles. There are several possible causes of the abnormal development or damage. The brain damage that leads to CP can happen before birth, during birth, within a month after birth, or during the first years of a child’s life, while the brain is still developing. CP related to brain damage that occurred before or during birth is called congenital CP. The majority of CP (85%–90%) is congenital. In many cases, the specific cause is not known. A small percentage of CP is caused by brain damage that occurs more than 28 days after birth. This is called acquired CP, and usually is associated with an infection (such as meningitis) or head injury.
What is Down Syndrome?
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
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 out of every 700 babies.
What are the types of Down Syndrome?
There are three types of Down syndrome.
Trisomy 21: About 95% of people with Down syndrome have Trisomy 21. 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%). 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. 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. However, 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.
FRAGILE X SYNDROME
What is Fragile X Syndrome?
Fragile X syndrome (FXS) is a genetic disorder. FXS is caused by changes in the fragile X mental retardation 1 (FMR1) gene. The FMR1 gene usually makes a protein called fragile X mental retardation protein (FMRP). FMRP is needed for normal brain development. People who have FXS do not make this protein. People who have other fragile X-associated disorders have changes in their FMR1 gene but usually make some of the protein. FXS affects both males and females. However, females often have milder symptoms than males. The exact number of people who have FXS is unknown, but it has been estimated that about 1 in 5,000 males are born with the disorder.
What are the signs and symptoms?
Signs that a child might have FXS include: developmental delays (not sitting, walking, or talking at the same time as other children the same age); learning disabilities (trouble learning new skills); and social and behavior problems (such as not making eye contact, anxiety, trouble paying attention, hand flapping, acting and speaking without thinking, and being very active). Males who have FXS usually have some degree of intellectual disability that can range from mild to severe. Females with FXS can have normal intelligence or some degree of intellectual disability. Autism spectrum disorders (ASDs) also occur more frequently in people with FXS.
FXS can be diagnosed by testing a person's DNA from a blood test. A doctor or genetic counselor can order the test. Testing also can be done to find changes in the FMR1 gene that can lead to fragile X-associated disorders. A diagnosis of FXS can be helpful to the family because it can provide a reason for a child’s intellectual disabilities and behavior problems. This allows the family and other caregivers to learn more about the disorder and manage care so that the child can reach his or her full potential. However, the results of DNA tests can affect other family members and raise many issues. So, anyone who is thinking about FXS testing should consider having genetic counseling prior to getting tested.
There is no cure for FXS. However, treatment services can help people learn important skills. Services can include therapy to learn to talk, walk, and interact with others. In addition, medicine can be used to help control some issues, such as behavior problems. To develop the best treatment plan, people with FXS, parents, and health care providers should work closely with one another, and with everyone involved in treatment and support—which may include teachers, childcare providers, coaches, therapists, and other family members. Taking advantage of all the resources available will help guide success.
Early Intervention Services?
Early intervention services help children from birth to 3 years old (36 months) learn important skills. These services may improve a child’s development. Even if the child has not been diagnosed with FXS, he or she may be eligible for services. These services are provided through an early intervention system in each state. Through this system, you can ask for an evaluation. In addition, treatment for particular symptoms, such as speech therapy for language delays, often does not need to wait for a formal diagnosis. While early intervention is extremely important, treatment services at any age can be helpful.
What is an Intellectual Disability?
Intellectual disability, is a term used when there are limits to a person’s ability to learn at an expected level and function in daily life. Levels of intellectual disability vary greatly in children from a very slight problem to a very severe problem. Children with intellectual disability might have a hard time letting others know their wants and needs, and taking care of themselves. Intellectual disability could cause a child to learn and develop more slowly than other children of the same age. It could take longer for a child with intellectual disability to learn to speak, walk, dress, or eat without help, and they could have trouble learning in school.
Intellectual disability can be caused by a problem that starts any time before a child turns 18 years old – even before birth. It can be caused by injury, disease, or a problem in the brain. For many children, the cause of their intellectual disability is not known. Some of the most common known causes of intellectual disability like Down syndrome, fetal alcohol syndrome, fragile X syndrome, genetic conditions, birth defects, and
infections happen before birth. Others happen while a baby is being born or soon after birth. Still other causes of intellectual disability do not occur until a child is older; these might include serious head injury, stroke, or certain infections.