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Muscle-Eye-Brain Disease

What is Muscle-Eye-Brain Disease?
Muscle-eye-brain disease (MEB) is an inherited condition causing a number of symptoms including muscle weakness, vision abnormalities, brain structure abnormalities, and severe mental disability.MEB causes congenital muscular dystrophy, a form of muscle weakness that is present from birth or develops shortly after birth. It causes an infant to feel floppy in all of his or her muscles, including those of the face. He or she may also exhibit involuntary muscle jerks or twitches.Eye problems associated with MEB include severe near-sightedness and glaucoma, among others.Another hallmark of MEB is a brain abnormality known as cobblestone lissencephaly (or type II lissencephaly). The brain develops a bumpy “cobblestone” appearance and lacks the normal folding structure. Other structural changes in the brain are also present. Children with MEB may have a buildup of fluid around the brain that can create a dangerous amount of pressure.The severity of symptoms can vary among people with MEB.

How Common is Muscle-Eye-Brain Disease?
MEB is very rare, although its exact prevalence is unknown.

How is Muscle-Eye-Brain Disease Treated?
There is no successful treatment or cure for MEB. Medical specialists can help treat specific symptoms, such as using medication to control seizures, physical and occupational therapy to aid in movement, and special eye glasses to help make the most of the child’s vision.

What is the Prognosis for a Person With Muscle-Eye-Brain Disease?
The prognosis for a person with MEB varies depending on the severity of the symptoms, but is generally poor. Studies have shown people with MEB typically die between the ages of 6 and 16.

Resources
Muscular Dystrophy Association
A non-profit organization that supports research into and education about neuromuscular diseases. It is best known for its annual telethon led by entertainer Jerry Lewis.

3300 East Sunrise Drive
Tucson, AZ 85718
Phone: (800) 572-1717
Secondary Phone: (520) 529-2000
mda@mdausa.org

Lewy Body Dementia

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What Is LBD?
LBD is not a rare disease. It affects an estimated 1.3 million individuals and their families in the United States. Because LBD symptoms can closely resemble other more commonly known diseases like Alzheimer’s and Parkinson’s, it is currently widely underdiagnosed. Many doctors or other medical professionals still are not familiar with LBD.LBD is an umbrella term for two related diagnoses. LBD refers to both Parkinson’s disease dementia and dementia with Lewy bodies. The earliest symptoms of these two diseases differ, but reflect the same underlying biological changes in the brain. Over time, people with both diagnoses will develop very similar cognitive, physical, sleep, and behavioral symptoms.While it may take more than a year or two for enough symptoms to develop for a doctor to diagnose LBD, it is critical to pursue a formal diagnosis. Early diagnosis allows for important early treatment that may extend quality of life and independence.LBD is a multisystem disease and typically requires a comprehensive treatment approach. This approach involves a team of physicians from different specialties who collaborate to provide optimum treatment of each symptom without worsening other LBD symptoms. Many people with LBD enjoy significant improvement of their symptoms with a comprehensive approach to treatment, and some can have remarkably little change from year to year.Some people with LBD are extremely sensitive or may react negatively to certain medications used to treat Alzheimer’s or Parkinson’s in addition to certain over-the-counter medications.

Who was Lewy?
In the early 1900s, while researching Parkinson’s disease, the scientist Friederich H. Lewy discovered abnormal protein deposits that disrupt the brain’s normal functioning. These Lewy body proteins are found in an area of the brain stem where they deplete the neurotransmitter dopamine, causing Parkinsonian symptoms. In Lewy body dementia, these abnormal proteins are diffuse throughout other areas of the brain, including the cerebral cortex. The brain chemical acetylcholine is depleted, causing disruption of perception, thinking and behavior. Lewy body dementia exists either in pure form, or in conjunction with other brain changes, including those typically seen in Alzheimer’s disease and Parkinson’s disease.

Early and accurate diagnosis of LBD, while not always easy to do, is of critical importance for two reasons.

First, people with LBD may respond more favorably to certain dementia medications than people with Alzheimer’s, allowing for early treatment that may improve or extend the quality of life for both the person with LBD and their caregiver.
Secondly, many people with LBD respond more poorly to certain medications for behavior and movement than people with Alzheimer’s or Parkinson’s, sometimes with dangerous or permanent side effects.

By learning about common forms of dementia, you can help your physician most quickly identify what type of dementia has developed.

Common Forms of Dementia

Alzheimer’s disease symptoms include a progressive loss of recent memory; problems with language, calculation, abstract thinking, and judgment; depression or anxiety; personality and behavioral changes; and disorientation to time and place.

Lewy body dementia (LBD) is an umbrella term for a form of dementia that has three common presentations.

Some individuals will start out with a memory or cognitive disorder that may resemble Alzheimer’s disease, but over time two or more distinctive features become apparent leading to the diagnosis of ‘dementia with Lewy bodies’ (DLB). Symptoms that differentiate it from Alzheimer’s include unpredictable levels of cognitive ability, attention or alertness, changes in walking or movement, visual hallucinations, a sleep disorder called REM sleep behavior disorder, in which people physically act out their dreams, and severe sensitivity to medications for hallucinations. In some cases, the sleep disorder can precede the dementia and other symptoms of LBD by decades.
Others will start out with a movement disorder leading to the diagnosis of Parkinson’s disease and later develop dementia and other symptoms common in DLB.
Lastly, a small group will first present with neuropsychiatric symptoms, which can include hallucinations, behavioral problems, and difficulty with complex mental activities, leading to an initial diagnosis of DLB.

Regardless of the initial symptom, over time all three presentations of LBD will develop very similar cognitive, physical, sleep and behavioral features, all caused by the presence of Lewy bodies throughout the brain.

Vascular dementia is caused by a series of small strokes that deprive the brain of vital oxygen. Symptoms, such as disorientation in familiar locations; walking with rapid, shuffling steps; incontinence; laughing or crying inappropriately; difficulty following instructions; and problems handling money may appear suddenly and worsen with additional strokes. High blood pressure, cigarette smoking, and high cholesterol are some of the risk factors for stroke that may be controlled to prevent vascular dementia.

Frontotemporal dementia (FTD) includes several disorders with a variety of symptoms. The most common signs of FTD include changes in personality and behavior, such as inappropriate or compulsive behavior, euphoria, apathy, decline in personal hygiene, and a lack of awareness concerning these changes. Some forms of FTD involve language and speech symptoms or movement changes.

An experienced clinician within the medical community should perform a diagnostic evaluation. If one is not available, the neurology department of the nearest medical university should be able to recommend appropriate resources or may even provide an experienced diagnostic team skilled in Lewy body dementia.

A thorough dementia diagnostic evaluation includes physical and neurological examinations, patient and family interviews (including a detailed lifestyle and medical history), and neuro-psychological and mental status tests. The patient’s functional ability, attention, language, visuospatial skills, memory and executive functioning are assessed. In addition, brain imaging (CT or MRI scans), blood tests and other laboratory studies may be performed. The evaluation will provide a clinical diagnosis. Currently, a conclusive diagnosis of LBD can be obtained only from a postmortem autopsy for which arrangements should be made in advance. Some research studies may offer brain autopsies as part of their protocols. Participating in research studies is a good way to benefit others with Lewy body dementia.

Medications
Medications are one of the most controversial subjects in dealing with LBD. A medication that doesn’t work for one person may work for another person.

Prescribing should only be done by a physician who is thoroughly knowledgeable about LBD. With new medications and even ‘over-the-counter,’ the patient should be closely monitored. At the first sign of an adverse reaction, consult with the patient’s physician. Consider joining an online caregiver support group to see what others have observed with prescription and over-the-counter medicines.

Risk Factors
Advanced age is considered to be the greatest risk factor for Lewy body dementia, with onset typically, but not always, between the ages of 50 and 85. Some cases have been reported much earlier. It appears to affect slightly more men than women. Having a family member with Lewy body dementia may increase a person’s risk. Observational studies suggest that adopting a healthy lifestyle (exercise, mental stimulation, nutrition) might delay age-associated dementias.

Clinical Trials
The recruitment of LBD patients for participation in clinical trials for studies on LBD, other dementias and Parkinsonian studies is now steadily increasing.

Prognosis and Stages
No cure or definitive treatment for Lewy body dementia has been discovered as yet. The disease has an average duration of 5 to 7 years. It is possible, though, for the time span to be anywhere from 2 to 20 years, depending on several factors, including the person’s overall health, age and severity of symptoms.

Defining the stages of disease progression for LBD is difficult. The symptoms, medicine management and duration of LBD vary greatly from person to person. To further complicate the stages assessment, LBD has a progressive but vacillating clinical course, and one of its defining symptoms is fluctuating levels of cognitive abilities, alertness and attention. Sudden decline is often caused by medications, infections or other compromises to the immune system and usually the person with LBD returns to their baseline upon resolution of the problem. But for some individuals, it may also be due to the natural course of the disease.

Symptoms

Lewy body dementia symptoms and diagnostic criteria
Every person with LBD is different and will manifest different degrees of the following symptoms. Some will show no signs of certain features, especially in the early stages of the disease. Symptoms may fluctuate as often as moment-to-moment, hour-to-hour or day-to-day. NOTE: Some patients meet the criteria for LBD yet score in the normal range of some cognitive assessment tools. The Mini-Mental State Examination (MMSE), for example, cannot be relied upon to distinguish LBD from other common syndromes.

LBD is a an umbrella term for two related clinical diagnoses, dementia with Lewy bodies and Parkinson’s disease dementia.

The latest clinical diagnostic criteria for dementia with Lewy bodies (DLB) categorizes symptoms into three types, listed below. A diagnosis of Parkinsons’ disease dementia (PDD) requires a well established diagnosis of Parkinson’s disease that later progresses into dementia, along with very similar features to DLB. A rather arbirary time cutoff was established to differentiate between DLB and PDD. People whose dementia occurs before or within 1 year of Parkinson’s symptoms are diagnosed with DLB. People who have an existing diagnosis of Parkinson’s for more than a year and later develop dementia are diagnosed with PDD.

Central feature

Progressive dementia – deficits in attention and executive function are typical. Prominent memory impairment may not be evident in the early stages.

Core features

Fluctuating cognition with pronounced variations in attention and alertness.
Recurrent complex visual hallucinations, typically well formed and detailed.
Spontaneous features of parkinsonism.

Suggestive features

REM sleep behavior disorder (RBD), which can appear years before the onset of dementia and parkinsonism.
Severe sensitivity to neuroleptics occurs in up to 50% of LBD patients who take them.
Low dopamine transporter uptake in the brain’s basal ganglia as seen on SPECT and PET imaging scans. (These scans are not yet available outside of research settings.)

Supportive features

Repeated falls and syncope (fainting).
Transient, unexplained loss of consciousness.
Autonomic dysfunction.
Hallucinations of other senses, like touch or hearing.
Visuospatial abnormalities.
Other psychiatric disturbances.

A clinical diagnosis of LBD can be probable or possible based on different symptom combinations.

A probable LBD diagnosis requires either:

Dementia plus two or more core features, or
Dementia plus one core feature and one or more suggestive features.

A possible LBD diagnosis requires:

Dementia plus one core feature, or
Dementia plus one or more suggestive features.

Symptoms Explained
In this section we’ll discuss each of the symptoms, starting with the key word: dementia. Dementia is a process whereby the person becomes progressively confused. The earliest signs are usually memory problems, changes in their way of speaking, such as forgetting words, and personality problems. Cognitive symptoms of dementia include poor problem solving, difficulty with learning new skills and impaired decision making.

Other causes of dementia should be ruled out first, such as alcoholism, overuse of medication, thyroid or metabolic problems. Strokes can also cause dementia. If these reasons are ruled out then the person is said to have a degenerative dementia. Lewy Body Dementia is second only to Alzheimer’s disease as the most common form of dementia.

Fluctuations in cognition will be noticeable to those who are close to the person with LBD, such as their partner. At times the person will be alert and then suddenly have acute episodes of confusion. These may last hours or days. Because of these fluctuations, it is not uncommon for it to be thought that the person is “faking”. This fluctuation is not related to the well-known “sundowning” of Alzheimer’s. In other words, there is no specific time of day when confusion can be seen to occur.

Hallucinations are usually, but not always, visual and often are more pronounced when the person is most confused. They are not necessarily frightening to the person. Other modalities of hallucinations include sound, taste, smell, and touch.

Parkinsonism or Parkinson’s Disease symptoms, take the form of changes in gait; the person may shuffle or walk stiffly. There may also be frequent falls. Body stiffness in the arms or legs, or tremors may also occur. Parkinson’s mask (blank stare, emotionless look on face), stooped posture, drooling and runny nose may be present.

REM Sleep Behavior Disorder (RBD) is often noted in persons with Lewy Body Dementia. During periods of REM sleep, the person will move, gesture and/or speak. There may be more pronounced confusion between the dream and waking reality when the person awakens. RBD may actually be the earliest symptom of LBD in some patients, and is now considered a significant risk factor for developing LBD. (One recent study found that nearly two-thirds of patients diagnosed with RBD developed degenerative brain diseases, including Lewy body dementia, Parkinson’s disease, and multiple system atrophy, after an average of 11 years of receiving an RBD diagnosis. All three diseases are called synucleinopathies, due to the presence of a mis-folded protein in the brain called alpha-synuclein.)

Sensitivity to neuroleptic (anti-psychotic) drugs is another significant symptom that may occur. These medications can worsen the Parkinsonism and/or decrease the cognition and/or increase the hallucinations. Neuroleptic Malignancy Syndrome, a life-threatening illness, has been reported in persons with Lewy Body Dementia. For this reason, it is very important that the proper diagnosis is made and that healthcare providers are educated about the disease.

Other Symptoms
Visuospatial difficulties, including depth perception, object orientation, directional sense and illusions may occur.

Autonomic dysfunction, including blood pressure fluctuations (e.g. postural/orthostatic hypotension) heart rate variability (HRV), sexual disturbances/impotence, constipation, urinary problems, hyperhidrosis (excessive sweating), decreased sweating/heat intolerance, syncope (fainting), dry eyes/mouth, and difficulty swallowing which may lead to aspiration pneumonia.

Other psychiatric disturbances may include systematized delusions, aggression and depression. The onset of aggression in LBD may have a variety of causes, including infections (e.g., UTI), medications, misinterpretation of the environment or personal interactions, and the natural progression of the disease.

Treatment Options

LBD is a multi-system disease and typically requires a comprehensive treatment approach, meaning a team of physicians from different specialties, who collaborate to provide optimum treatment of each symptom without worsening other LBD symptoms. It is important to remember that some people with LBD are extremely sensitive or may react negatively to certain medications used to treat Alzheimer’s or Parkinson’s in addition to certain over-the-counter medications.

Cognitive Symptoms
Medications called cholinesterase inhibitors are considered the standard treatment for cognitive symptoms in LBD. These medications were developed to treat Alzheimer’s disease. However, some researchers believe that people with LBD may be even more responsive to these types of medications than those with Alzheimer’s.

Movement Symptoms
Movement symptoms may be treated with a Parkinson’s medication called levodopa, but if the symptoms are mild, it may be best to not treat them in order to avoid potential medication side-effects.

Visual Hallucinations
If hallucinations are disruptive or upsetting, your physician may recommend a cautious trial of a newer antipsychotic medication. (Please see WARNING below.) Of note, the dementia medications called cholinesterase inhibitors have also been shown to be effective in treating hallucinations and other psychiatric symptoms of LBD.

REM Sleep Behavior Disorder (RBD)
RBD can be quite responsive to treatment, so your physician may recommend a medication like melatonin and/or clonazepam.

Neuroleptic Sensitivity
Severe sensitivity to neuroleptics is common in LBD. Neuroleptics, also known as antipsychotics, are medications used to treat hallucinations or other serious mental disorders. While traditional antipsychotic medications (e.g. haloperidol) are commonly prescribed for individuals with Alzheimer’s with disruptive behavior, these medications can affect the brain of an individual with LBD differently, sometimes causing severe side effects (see below). For this reason, traditional antipsychotic medications like haloperidol should be avoided. Some newer ‘atypical’ antipsychotic medications like risperidone may also be problematic for someone with LBD. Quetiapine is preferred by some LBD experts. If quetiapine is not tolerated or is not helpful, clozapine should be considered, but requires ongoing blood tests to assure a rare but serious blood condition does not develop. Hallucinations must be treated very conservatively, using the lowest doses possible under careful observation for side effects.

WARNING:
Up to 50% of patients with LBD who are treated with any antipsychotic medication may experience severe neuroleptic sensitivity, such as worsening cognition, heavy sedation, increased or possibly irreversible parkinsonism, or symptoms resembling neuroleptic malignant syndrome (NMS), which can be fatal. (NMS causes severe fever, muscle rigidity and breakdown that can lead to kidney failure.)

Medication Side Effects
Speak with your doctor about possible side effects. The following drugs may cause sedation, motor impairment or confusion:

Benzodiazepines, tranquilizers like diazepam and lorazepam
Anticholinergics (antispasmodics), such as oxybutynin and glycopyrrolate
Some surgical anesthetics
Older antidepressants
Certain over-the-counter medications, including diphenhydramine and dimenhydrinate.
Some medications, like anticholinergics, amantadine and dopamine agonists, which help relieve parkinsonian symptoms, might increase confusion, delusions or hallucinations.

NOTE: Be sure to meet with your anesthesiologist in advance of any surgery to discuss medication sensitivities and risks unique to LBD. People with LBD often respond to certain anesthetics and surgery with acute states of confusion or delirium and may have a sudden significant drop in functional abilities, which may or may not be permanent.

Possible alternatives to general anesthesia include a spinal or regional block. These methods are less likely to result in postoperative confusion. If you are told to stop taking all medications prior to surgery, consult with your doctor to develop a plan for careful withdrawal.

Non-Medical Treatments

Physical therapy options include cardiovascular, strengthening, and flexibility exercises, as well as gait training. Physicians may also recommend general physical fitness programs such as aerobic, strengthening, or water exercise.

Speech therapy may be helpful for low voice volume and poor enunciation. Speech therapy may also improve muscular strength and swallowing difficulties.

Occupational therapy may help maintain skills and promote function and independence. In addition to these forms of therapy and treatment, music and aroma therapy can also reduce anxiety and improve mood.

Individual and family psychotherapy can be useful for learning strategies to manage emotional and behavioral symptoms and to help make plans that address individual and family concerns about the future.

Support groups may be helpful for caregivers and persons with LBD to identify practical solutions to day-to-day frustrations, and to obtain emotional support from others.

End-of-Life
Planning for the end of life can be a valuable activity for any family. The links below offer general guidance and some specific suggestions for families who face the burden of a disease such as Lewy body dementia.

Advanced Directives – a Caring Connections site with state-specific advanced directives

Caring Connections – home page of consumer Web site about hospice and palliative care managed by the National Hospice and Palliative Care Organization

Palliative Doctors – a Web site for consumers managed by the American Academy of Hospice and Palliative Care about palliative care

Marfan Syndrome Awareness

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Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly.

Connective tissue is made up of proteins. The protein that plays a role in Marfan syndrome is called fibrillin-1. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1. This mutation results in an increase in a protein called transforming growth factor beta, or TGF-β. The increase in TGF-β causes problems in connective tissues throughout the body, which in turn creates the features and medical problems associated with Marfan syndrome and some related disorders.

Because connective tissue is found throughout the body, Marfan syndrome can affect many different parts of the body, as well. Features of the disorder are most often found in the heart, blood vessels, bones, joints, and eyes. Some Marfan features – for example, aortic enlargement (expansion of the main blood vessel that carries blood away from the heart to the rest of the body) – can be life-threatening. The lungs, skin and nervous system may also be affected. Marfan syndrome does not affect intelligence.

Who has Marfan syndrome?
About 1 in 5,000 people have Marfan syndrome, including men and women of all races and ethnic groups. About 3 out of 4 people with Marfan syndrome inherit it, meaning they get the genetic mutation from a parent who has it. But some people with Marfan syndrome are the first in their family to have it; when this happens it is called a spontaneous mutation. There is a 50 percent chance that a person with Marfan syndrome will pass along the genetic mutation each time they have a child.

Knowing the signs of Marfan syndrome can save lives
People with Marfan syndrome are born with it, but features of the disorder are not always present right away. Some people have a lot of Marfan features at birth or as young children – including serious conditions like aortic enlargement. Others have fewer features when they are young and don’t develop aortic enlargement or other signs of Marfan syndrome until they are adults. Some features of Marfan syndrome, like those affecting the heart and blood vessels, bones or joints, can get worse over time.

This makes it very important for people with Marfan syndrome and related disorders to receive accurate, early diagnosis and treatment. Without it, they can be at risk for potentially life-threatening complications. The earlier some treatments are started, the better the outcomes are likely to be.

Knowing the signs of Marfan syndrome can save lives. Our community of experts estimates that nearly half the people who have Marfan syndrome don’t know it. This is something we are working hard to change.

Autism Spectrum Disorders

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Autism spectrum disorders (ASDs) are a group of developmental disabilities that can cause significant social, communication and behavioral challenges.

ASDs are “spectrum disorders” which means ASDs affect each person in different ways, and can range from very mild to severe. People with ASDs share some similar symptoms, such as problems with social interaction. But there are differences in when the symptoms start, how severe they are, and the exact nature of the symptoms.

Types of ASDs
There are three different types of ASDs:

Autistic Disorder (also called “classic” autism)
This is what most people think of when hearing the word “autism.” People with autistic disorder usually have significant language delays, social and communication challenges, and unusual behaviors and interests. Many people with autistic disorder also have intellectual disability.
Asperger Syndrome
People with Asperger syndrome usually have some milder symptoms of autistic disorder. They might have social challenges and unusual behaviors and interests. However, they typically do not have problems with language or intellectual disability.
Pervasive Developmental Disorder – Not Otherwise Specified (PDD-NOS; also called “atypical autism”)
People who meet some of the criteria for autistic disorder or Asperger syndrome, but not all, may be diagnosed with PDD-NOS. People with PDD-NOS usually have fewer and milder symptoms than those with autistic disorder. The symptoms might cause only social and communication challenges.

Signs and Symptoms
ASDs begin before the age of 3 and last throughout a person’s life, although symptoms may improve over time. Some children with an ASD show hints of future problems within the first few months of life. In others, symptoms might not show up until 24 months or later. Some children with an ASD seem to develop normally until around 18 to 24 months of age and then they stop gaining new skills, or they lose the skills they once had.

A person with an ASD might:

Not respond to their name by 12 months
Not point at objects to show interest (point at an airplane flying over) by 14 months
Not play “pretend” games (pretend to “feed” a doll) by 18 months
Avoid eye contact and want to be alone
Have trouble understanding other people’s feelings or talking about their own feelings
Have delayed speech and language skills
Repeat words or phrases over and over (echolalia)
Give unrelated answers to questions
Get upset by minor changes
Have obsessive interests
Flap their hands, rock their body, or spin in circles
Have unusual reactions to the way things sound, smell, taste, look, or feel

Diagnosis
Diagnosing ASDs can be difficult since there is no medical test, like a blood test, to diagnose the disorders. Doctors look at the child’s behavior and development to make a diagnosis.

ASDs can sometimes be detected at 18 months or younger. By age 2, a diagnosis by an experienced professional can be considered very reliable. However, many children do not receive a final diagnosis until much older. This delay means that children with an ASD might not get the help they need.

Treatment
There is currently no cure for ASDs. However, research shows that early intervention treatment services can greatly improve a child’s development. Early intervention services help children from birth to 3 years old (36 months) learn important skills. Services can include therapy to help the child talk, walk, and interact with others. Therefore, it is important to talk to your child’s doctor as soon as possible if you think your child has an ASD or other developmental problem.

Even if your child has not been diagnosed with an ASD, he or she may be eligible for early intervention treatment services. The Individuals with Disabilities Education Act (IDEA) says that children under the age of 3 years (36 months) who are at risk of having developmental delays may be eligible for services. These services are provided through an early intervention system in your 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 ASD diagnosis.

Learn about types of treatments »

Causes and Risk Factors
We do not know all of the causes of ASDs. However, we have learned that there are likely many causes for multiple types of ASDs. There may be many different factors that make a child more likely to have an ASD, including environmental, biologic and genetic factors.

Most scientists agree that genes are one of the risk factors that can make a person more likely to develop an ASD.
Children who have a sibling or parent with an ASD are at a higher risk of also having an ASD.
ASDs tend to occur more often in people who have certain other medical conditions. About 10% of children with an ASD have an identifiable genetic disorder, such as Fragile X syndrome, tuberous sclerosis, Down syndrome and other chromosomal disorders.
Some harmful drugs taken during pregnancy have been linked with a higher risk of ASDs, for example, the prescription drugs thalidomide and valproic acid.
We know that the once common belief that poor parenting practices cause ASDs is not true.
There is some evidence that the critical period for developing ASDs occurs before birth. However, concerns about vaccines and infections have led researchers to consider risk factors before and after birth.

ASDs are an urgent public health concern. Just like the many families affected in some way by ASDs, CDC wants to find out what causes the disorder. Understanding the risk factors that make a person more likely to develop an ASD will help us learn more about the causes. We are currently working on one of the largest U.S. studies to date, called Study to Explore Early Development (SEED). SEED is looking at many possible risk factors for ASDs, including genetic, environmental, pregnancy, and behavioral factors.

Who is Affected
ASDs occur in all racial, ethnic, and socioeconomic groups, but are almost five times more common among boys than among girls. CDC estimates that about 1 in 88 children has been identified with an autism spectrum disorder (ASD).

More people than ever before are being diagnosed with an ASD. It is unclear exactly how much of this increase is due to a broader definition of ASDs and better efforts in diagnosis. However, a true increase in the number of people with an ASD cannot be ruled out. We believe the increase in ASD diagnosis is likely due to a combination of these factors.

Within the past decade, CDC’s Autism and Developmental Disabilities Monitoring (ADDM) Network has been estimating the number of people with an ASD in the U.S. We have learned a lot about how many children in the U.S. have an ASD. It will be important to use the same methods to track how the number of people with an ASD is changing over time in order to learn more about the disorders.

If You’re Concerned
If you think your child might have an ASD or you think there could be a problem with the way your child plays, learns, speaks, or acts,contact your child’s doctor, and share your concerns.

If you or the doctor is still concerned, ask the doctor for a referral to a specialist who can do a more in-depth evaluation of your child. Specialists who can do a more in-depth evaluation and make a diagnosis include:

Developmental Pediatricians (doctors who have special training in child development and children with special needs)
Child Neurologists (doctors who work on the brain, spine, and nerves)
Child Psychologists or Psychiatrists (doctors who know about the human mind)

At the same time, call your state’s public early childhood system to request a free evaluation to find out if your child qualifies for intervention services. This is sometimes called a Child Find evaluation. You do not need to wait for a doctor’s referral or a medical diagnosis to make this call.

Where to call for a free evaluation from the state depends on your child’s age:

If your child is not yet 3 years old, contact your local early intervention system.You can find the right contact information for your state by calling the National Dissemination Center for Children with Disabilities (NICHCY) at 1-800-695-0285.Or visit the NICHCY website. Once you find your state on this webpage, look for the heading “Programs for Infants and Toddlers with Disabilities: Ages Birth through 3″.
If your child is 3 years old or older, contact your local public school system.Even if your child is not yet old enough for kindergarten or enrolled in a public school, call your local elementary school or board of education and ask to speak with someone who can help you have your child evaluated.If you’re not sure who to contact, call the National Dissemination Center for Children with Disabilities at 1.800.695.0285 or visit the NICHCY website. Once you find your state on this webpage, look for the heading “Programs for Children with Disabilities: Ages 3 through 5″.

Research shows that early intervention services can greatly improve a child’s development. In order to make sure your child reaches his or her full potential, it is very important to get help for an ASD as soon as possible.

Parkinson’s Awareness

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Parkinson’s disease is a movement disorder that is chronic and progressive, meaning that symptoms continue and worsen over time.

As many as one million individuals in the US live with Parkinson’s disease. While approximately four percent of people with Parkinson’s are diagnosed before the age of 50, incidence increases with age.

Its major symptoms vary from person to person, but can include tremor, slowness of movements, limb stiffness, and difficulties with gait and balance. The cause of the disease is unknown, and although there is presently no cure, there are treatment options such as medication and surgery to manage the symptoms.