What is Autism?

Autistic disorder is a neurological and developmental disorder that usually appears during the first three years of life. A child with autism appears to live in their own world, showing little interest in others and a lack of social awareness. The focus of an autistic child is a consistent routine and includes an interest in repeating odd and peculiar behaviors. Autistic children often have problems in communication, avoid eye contact and show limited attachment to others.

More than 500,000 people in the US have been diagnosed with some form of autism. Autism can prevent a child from forming relationships with others (in part, due to an inability to interpret facial expressions or emotions). A child with autism may resist cuddling, play alone, be resistant to change and have delayed speech development. Persons with autism tend to exhibit repeated body movements (such as flapping hands or rocking) and have unusual attachments to objects. However, many persons with autism excel consistently on certain mental tasks (i.e., counting, measuring, art, music, memory).

The cause of autism is not known. Research suggests that autism is a genetic condition. It is believed that several genes are involved in the development of autism. Research studies in autism have found a variety of abnormalities in the brain structure and chemicals in the brain, however, there have been no consistent findings.

One theory is the possibility that autistic disorder is a behavioral syndrome that includes several distinct conditions. However, parenting behaviors are definitively not the cause or a contributing factor to the cause or causes of autism.

The following are the most common symptoms of autism. However, each child may experience symptoms differently. Symptoms may include:

  • Does not socially interact well with others, including parents.
    • Shows a lack of interest in, or rejection of, physical contact. Parents describe autistic infants as “unaffectionate.” Autistic infants and children are not comforted by physical contact.
    • Avoids making eye contact with others, including parents.
    • Fails to develop friends or interact with other children.
  • Does not communicate well with others.
    • Is delayed or does not develop language.
    • Once language is developed, does not use language to communicate with others.
    • Has echolalia (repeats words or phrases repeatedly, like an echo).
  • Demonstrates repetitive behaviors.
    • Has repetitive motor movements (such as rocking and hand or finger flapping).
  • Is preoccupied, usually with lights, moving objects, or parts of objects.
  • Does not like noise.
  • Has rituals.
  • Requires routines.

Some Other Red Flags:

● The child does not respond to his/her name.
● The child cannot explain what he/she wants.
● The child’s language skills are slow to develop or speech is delayed.
● The child doesn’t follow directions.
● At times, the child seems to be deaf.
● The child seems to hear sometimes, but not other times.
● The child doesn’t point or wave “bye-bye.”
● The child used to say a few words or babble, but now he/she doesn’t.
● The child throws intense or violent tantrums.
● The child has odd movement patterns.
● The child is overly active, uncooperative, or resistant.
● The child doesn’t know how to play with toys.
● The child doesn’t smile when smiled at.
● The child has poor eye contact.
● The child gets “stuck” doing the same things over and over and can’t move on to other things.
● The child seems to prefer to play alone.
● The child gets things for him/herself only.
● The child is very independent for his/her age.
● The child does things “early” compared to other children.
● The child seems to be in his/her “own world.”
● The child seems to tune people out.
● The child is not interested in other children.
● The child walks on his/her toes.
● The child shows unusual attachments to toys, objects, or schedules (i.e., always holding a string or having to put
socks on before pants).
● Child spends a lot of time lining things up or putting things in a certain order.

There is no cure for autism, nor is there one single treatment for autism spectrum disorders.  But there are ways to help minimize the symptoms of autism and to maximize learning.

  • Behavioral therapy and other therapeutic options
    • Behavior management therapy helps to reinforce wanted behaviors, and reduce unwanted behaviors.  It is often based on Applied Behavior Analysis (ABA).
    • Speech-language therapists can help people with autism improve their ability to communicate and interact with others.
    • Occupational therapists can help people find ways to adjust tasks to match their needs and abilities.
    • Physical therapists design activities and exercise to build motor control and improve posture and balance.
  • Educational and/or school-based options
    • Public schools are required to provide free, appropriate public education from age 3 through high school or age 21, whichever comes first.
    • Typically, a team of people, including the parents, teachers, caregivers, school psychologists, and other child development specialists work together to design an Individualized Education Plan (IEP) to help guide the child’s school experiences.
  • Medication options
    • Currently there are no medications that can cure autism spectrum disorders or all of the symptoms.  The U.S. Food and Drug Administration has not approved any medications specifically for the treatment of autism, but in many cases medication can treat some of the symptoms associated with autism.
    • Selective serotonin reuptake inhibitors (SSRIs), tricyclics, psychoactive/anti-psychotics, stimulants, and anti-anxiety drugs are among the medications that a health care provider might use to treat symptoms of autism spectrum disorders.
    • Secretin—a hormone that helps digestion—is not recommended as a treatment for autism

Sensory problems

Many children with autism spectrum disorder (ASD) either overreact or under-react to certain sights, sounds, smells, textures, and tastes. For example, some may:

  • Dislike or show discomfort from a light touch or the feel of clothes on their skin
  • Experience pain from certain sounds, like a vacuum cleaner, a ringing telephone, or a sudden storm; sometimes they will cover their ears and scream
  • Have no reaction to intense cold or pain.

Researchers are trying to determine if these unusual reactions are related to differences in integrating multiple types of information from the senses.

Sleep problems

Children with ASD tend to have problems falling asleep or staying asleep, or have other sleep problems.15 These problems make it harder for them to pay attention, reduce their ability to function, and lead to poor behavior. In addition, parents of children with ASD and sleep problems tend to report greater family stress and poorer overall health among themselves.

Fortunately, sleep problems can often be treated with changes in behavior, such as following a sleep schedule or creating a bedtime routine. Some children may sleep better using medications such as melatonin, which is a hormone that helps regulate the body’s sleep-wake cycle. Like any medication, melatonin can have unwanted side effects. Talk to your child’s doctor about possible risks and benefits before giving your child melatonin. Treating sleep problems in children with ASD may improve the child’s overall behavior and functioning, as well as relieve family stress.16

Intellectual disability

Many children with ASD have some degree of intellectual disability. When tested, some areas of ability may be normal, while others—especially cognitive (thinking) and language abilities—may be relatively weak. For example, a child with ASD may do well on tasks related to sight (such as putting a puzzle together) but may not do as well on language-based problem-solving tasks. Children with a form of ASD like Asperger syndrome often have average or above-average language skills and do not show delays in cognitive ability or speech.

Seizures

>One in four children with ASD has seizures, often starting either in early childhood or during the teen years.17 Seizures, caused by abnormal electrical activity in the brain, can result in

  • A short-term loss of consciousness, or a blackout
  • Convulsions, which are uncontrollable shaking of the whole body, or unusual movements
  • Staring spells.

Sometimes lack of sleep or a high fever can trigger a seizure. An electroencephalogram (EEG), a nonsurgical test that records electrical activity in the brain, can help confirm whether a child is having seizures. However, some children with ASD have abnormal EEGs even if they are not having seizures.

Seizures can be treated with medicines called anticonvulsants. Some seizure medicines affect behavior; changes in behavior should be closely watched in children with ASD. In most cases, a doctor will use the lowest dose of medicine that works for the child. Anticonvulsants usually reduce the number of seizures but may not prevent all of them.

For more information about medications, see the NIMH online booklet, “Medications”. None of these medications have been approved by the FDA to specifically treat symptoms of ASD.

Fragile X syndrome

Fragile X syndrome is a genetic disorder and is the most common form of inherited intellectual disability,18 causing symptoms similar to ASD. The name refers to one part of the X chromosome that has a defective piece that appears pinched and fragile when viewed with a microscope. Fragile X syndrome results from a change, called a mutation, on a single gene. This mutation, in effect, turns off the gene. Some people may have only a small mutation and not show any symptoms, while others have a larger mutation and more severe symptoms.19

Around 1 in 3 children who have Fragile X syndrome also meet the diagnostic criteria for ASD, and about 1 in 25 children diagnosed with ASD have the mutation that causes Fragile X syndrome.19

Because this disorder is inherited, children with ASD should be checked for Fragile X, especially if the parents want to have more children. Other family members who are planning to have children may also want to be checked for Fragile X syndrome. For more information on Fragile X, see the Eunice Kennedy Shriver National Institute of Child Health and Human Development website.

Tuberous sclerosis

Tuberous sclerosis is a rare genetic disorder that causes noncancerous tumors to grow in the brain and other vital organs. Tuberous sclerosis occurs in 1 to 4 percent of people with ASD.18,20 A genetic mutation causes the disorder, which has also been linked to mental retardation, epilepsy, and many other physical and mental health problems. There is no cure for tuberous sclerosis, but many symptoms can be treated.

Gastrointestinal problems

Some parents of children with ASD report that their child has frequent gastrointestinal (GI) or digestion problems, including stomach pain, diarrhea, constipation, acid reflux, vomiting, or bloating. Food allergies may also cause problems for children with ASD.21 It’s unclear whether children with ASD are more likely to have GI problems than typically developing children.22,23 If your child has GI problems, a doctor who specializes in GI problems, called a gastroenterologist, can help find the cause and suggest appropriate treatment.

Some studies have reported that children with ASD seem to have more GI symptoms, but these findings may not apply to all children with ASD. For example, a recent study found that children with ASD in Minnesota were more likely to have physical and behavioral difficulties related to diet (for example, lactose intolerance or insisting on certain foods), as well as constipation, than children without ASD.23 The researchers suggested that children with ASD may not have underlying GI problems, but that their behavior may create GI symptoms—for example, a child who insists on eating only certain foods may not get enough fiber or fluids in his or her diet, which leads to constipation.

Some parents may try to put their child on a special diet to control ASD or GI symptoms. While some children may benefit from limiting certain foods, there is no strong evidence that these special diets reduce ASD symptoms.24 If you want to try a special diet, first talk with a doctor or a nutrition expert to make sure your child’s nutritional needs are being met.

Co-occurring mental disorders

Children with ASD can also develop mental disorders such as anxiety disorders, attention deficit hyperactivity disorder (ADHD), or depression. Research shows that people with ASD are at higher risk for some mental disorders than people without ASD.25 Managing these co-occurring conditions with medications or behavioral therapy, which teaches children how to control their behavior, can reduce symptoms that appear to worsen a child’s ASD symptoms. Controlling these conditions will allow children with ASD to focus more on managing the ASD.26

Our Treatment Methodology

Gathering previous information, whether it be medical or life related, is a very important step in learning about our patients This knowledge can provide our physicians with an excellent understanding of your symptoms, and can easily help determine what disorder you, or your child may have.

Our first step is to sit down with you and listen to your past history, and why you decided to stop in to see us. This process is very relaxed and can be accomplished in person, or through the use of our TeleHealth hardware and software. Either way we want you to feel comfortable, and express any concerns you may have.

The second step of our therapy process involves observation, watching our patients. Through observation, our physicians can detect symptoms and actions that families will often bypass as “normal”.

This observational session occurs in one of our many clinics around the state, and can consist of a meeting with the physician in-person, or via TeleHealth (Video Communications). Our TeleHealth initiative is vastly growing, and can be very beneficial. The lack of inter-personal contact with the doctor often helps patients open up, and act as they normally would.

After gathering crucial information, and observing the patient, our physician will then start to determine the diagnosis. Diagnosing developmental disorders is not an easy task, and people often get caught up on classifications and “titles”. The “title” is not important, the important aspect is the positive outcome we strive to achieve.

In order to finalize the diagnosis, the doctor may have to take blood samples, and perform other various tests to insure safety and the best possible treatment plan.

Once the diagnosis is determined, our physicians will work with you and your family to determine the best possible treatment plan. Treatment methods generally consist of some sort of therapy (individual,group,physical etc.), medication, and sometimes both.

Our physicians are highly skilled in adapting treatment plans for each individual. The proof is in the results, come and see for yourself.

Autistic Disorders

Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS)

Pervasive Developmental Disorder, Not Otherwise Specified (PDD-NOS) is a condition in which some – but not all – features of autism or another explicitly identified Pervasive Developmental Disorder are identified, but not all of the criteria for “Typical Autism” are met. PDD-NOS is often referred to as “Atypical Autism.”

While deficits in peer relations and unusual sensitivities are typically noted, social skills are less impaired than in classical autism. The limited available evidence suggest that children with PDD-NOS probably come to professional attention rather later than is the case with autistic children, and that intellectual deficits are less common. 

Asbergers Syndrome

People with Asperger syndrome have autism-like problems in areas of social interaction and communication, but have normal intelligence and verbal skills.  Asperger syndrome is usually thought to be the mildest of the autism spectrum disorders.

What are the symptoms of Asperger syndrome?

One of the most distinct symptoms of Asperger syndrome is having an obsessive interest in a single object or topic—so much so that the person ignores other objects, topics, or thoughts.

Unlike some children with autism spectrum disorders, children with Asperger syndrome tend to have good vocabularies and grammar skills.  But they usually have other language problems, such as being very literal and having trouble understanding non-verbal communications, such as body language.

Other symptoms of Asperger syndrome may include:

  • Obsessive or repetitive routines and rituals
  • Motor-skill problems, such as clumsy or uncoordinated movements and delays in motor skills
  • Social-skill problems, especially related to communicating with others
  • Sensitivity to sensory information, such as light, sound, texture, and taste

What is the treatment for Asperger syndrome?

There is no cure for Asperger syndrome, but people with Asperger syndrome can live full and happy lives, especially with early treatment intervention.

Treatment for Asperger syndrome can include educational and social skills training.  It may also include behavioral therapy and medication for related conditions.

Rett's Disorder

Rett syndrome is a neurodevelopmenal disorder that affects girls almost exclusively. It is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability.

The disorder was identified by Dr. Andreas Rett, an Austrian physician who first described it in a journal article in 1966. It was not until after a second article about the disorder, published in 1983 by Swedish researcher Dr. Bengt Hagberg, that the disorder was generally recognized.

The course of Rett syndrome, including the age of onset and the severity of symptoms, varies from child to child. Before the symptoms begin, however, the child generally appears to grow and develop normally, although there are often subtle abnormalities even in early infancy, such as loss of muscle tone (hypotonia), difficulty feeding, and jerkiness in limb movements. Then, gradually, mental and physical symptoms appear. As the syndrome progresses, the child loses purposeful use of her hands and the ability to speak. Other early symptoms may include problems crawling or walking and diminished eye contact. The loss of functional use of the hands is followed by compulsive hand movements such as wringing and washing. The onset of this period of regression is sometimes sudden.

Apraxia — the inability to perform motor functions — is perhaps the most severely disabling feature of Rett syndrome, interfering with every body movement, including eye gaze and speech.

Children with Rett syndrome often exhibit autistic-like behaviors in the early stages. Other symptoms may include walking on the toes, sleep problems, a wide-based gait, teeth grinding and difficulty chewing, slowed growth, seizures, cognitive disabilities, and breathing difficulties while awake such as hyperventilation, apnea (breath holding), and air swallowing.

What are the stages of the disorder?

Scientists generally describe four stages of Rett syndrome.

Stage I, called early onset, typically begins between 6 and 18 months of age. This stage is often overlooked because symptoms of the disorder may be somewhat vague, and parents and doctors may not notice the subtle slowing of development at first. The infant may begin to show less eye contact and have reduced interest in toys. There may be delays in gross motor skills such as sitting or crawling. Hand-wringing and decreasing head growth may occur, but not enough to draw attention. This stage usually lasts for a few months but can continue for more than a year.

Stage II, or the rapid destructive stage, usually begins between ages 1 and 4 and may last for weeks or months. Its onset may be rapid or gradual as the child loses purposeful hand skills and spoken language. Characteristic hand movements such as wringing, washing, clapping, or tapping, as well as repeatedly moving the hands to the mouth often begin during this stage. The child may hold the hands clasped behind the back or held at the sides, with random touching, grasping, and releasing. The movements continue while the child is awake but disappear during sleep. Breathing irregularities such as episodes of apnea and hyperventilation may occur, although breathing usually improves during sleep. Some girls also display autistic-like symptoms such as loss of social interaction and communication. Walking may be unsteady and initiating motor movements can be difficult. Slowed head growth is usually noticed during this stage.

Stage III, or the plateau or pseudo-stationary stage, usually begins between ages 2 and 10 and can last for years. Apraxia, motor problems, and seizures are prominent during this stage. However, there may be improvement in behavior, with less irritability, crying, and autistic-like features. A girl in stage III may show more interest in her surroundings and her alertness, attention span, and communication skills may improve. Many girls remain in this stage for most of their lives.

Stage IV, or the late motor deterioration stage, can last for years or decades. Prominent features include reduced mobility, curvature of the spine (scoliosis) and muscle weakness, rigidity, spasticity, and increased muscle tone with abnormal posturing of an arm, leg, or top part of the body. Girls who were previously able to walk may stop walking. Cognition, communication, or hand skills generally do not decline in stage IV. Repetitive hand movements may decrease and eye gaze usually improves.

What causes Rett syndrome?

Nearly all cases of Rett syndrome are caused by a mutation in the methyl CpG binding protein 2, or MECP2(pronounced meck-pea-two) gene.  Scientists identified the gene — which is believed to control the functions of many other genes — in 1999.  The MECP2 gene contains instructions for the synthesis of a protein called methyl cytosine binding protein 2 (MeCP2), which is needed for brain development and acts as one of the many biochemical switches that can either increase gene expression or tell other genes when to turn off and stop producing their own unique proteins.  Because the MECP2 gene does not function properly in individuals with Rett syndrome, insufficient amounts or structurally abnormal forms of the protein are produced and can cause other genes to be abnormally expressed.

Not everyone who has an MECP2 mutation has Rett syndrome.  Scientists have identified mutations in the CDKL5 andFOXG1 genes in individuals who have atypical or congenital Rett syndrome, but they are still learning how those mutations cause the disorder.  Scientists believe the remaining cases may be caused by partial gene deletions, mutations in other parts of the MECP2 gene, or additional genes that have not yet been identified, and they continue to look for other causes.

Is Rett syndrome Inherited?

Although Rett syndrome is a genetic disorder, less than 1 percent of recorded cases are inherited or passed from one generation to the next.  Most cases are spontaneous, which means the mutation occurs randomly.  However, in some families of individuals affected by Rett syndrome, there are other female family members who have a mutation of theirMECP2 gene but do not show clinical symptoms.  These females are known as “asymptomatic female carriers.”

Who gets Rett syndrome?

Rett syndrome is estimated to affect one in every 10,000 to 15,000 live female births and in all racial and ethnic groups worldwide.  Prenatal testing is available for families with an affected daughter who has an identified MECP2 mutation.  Since the disorder occurs spontaneously in most affected individuals, however, the risk of a family having a second child with the disorder is less than 1 percent.

Genetic testing is also available for sisters of girls with Rett syndrome who have an identified MECP2 mutation to determine if they are asymptomatic carriers of the disorder, which is an extremely rare possibility.

The MECP2 gene is found on a person’s X chromosome, one of the two sex chromosomes.  Girls have two X chromosomes, but only one is active in any given cell.  This means that in a girl with Rett syndrome only a portion of the cells in the nervous system will use the defective gene.  Some of the child’s brain cells use the healthy gene and express normal amounts of the protein.

The severity of Rett syndrome in girls is in part a function of the percentage of their cells that express a normal copy of the MECP2 gene.  If the active X chromosome that is carrying the defective gene is turned off in a large proportion of cells, the symptoms will be mild, but if a larger percentage of cells have the X chromosome with the normal MECP2gene turned off, onset of the disorder may occur earlier and the symptoms may be more severe.

The story is different for boys who have a MECP2 mutation known to cause Rett syndrome in girls.  Because boys have only one X chromosome (and one Y chromosome) they lack a back-up copy that could compensate for the defective one, and they have no protection from the harmful effects of the disorder.  Boys with such a defect frequently do not show clinical features of Rett syndrome but experience severe problems when they are first born and die shortly after birth.  A very small number of boys may have a different mutation in the MECP2 gene or a sporadic mutation after conception that can cause some degree of intellectual disability and developmental problems.

 How is Rett syndrome diagnosed?

Doctors clinically diagnose Rett syndrome by observing signs and symptoms during the child’s early growth and development, and conducting ongoing evaluations of the child’s physical and neurological status.  Scientists have developed a genetic test to complement the clinical diagnosis, which involves searching for the MECP2 mutation on the child’s X chromosome.

A pediatric neurologist, clinical geneticist, or developmental pediatrician should be consulted to confirm the clinical diagnosis of Rett syndrome.  The physician will use a highly specific set of guidelines that are divided into three types of clinical criteria: mainsupportive, and exclusion.  The presence of any of the exclusion criteria negates a diagnosis of classic Rett syndrome.

Examples of main diagnostic criteria or symptoms include partial or complete loss of acquired purposeful hand skills, partial or complete loss of acquired spoken language, repetitive hand movements (such has hand wringing or squeezing, clapping or rubbing), and gait abnormalities, including toe-walking or an unsteady, wide-based, stiff-legged walk.

Supportive criteria are not required for a diagnosis of Rett syndrome but may occur in some individuals.  In addition, these symptoms — which vary in severity from child to child — may not be observed in very young girls but may develop with age.  A child with supportive criteria but none of the essential criteria does not have Rett syndrome.  Supportive criteria include scoliosis. teeth-grinding, small cold hands and feet in relation to height, abnormal sleep patterns, abnormal muscle tone, inappropriate laughing or screaming, intense eye communication, and diminished response to pain..

In addition to the main diagnostic criteria, a number of specific conditions enable physicians to rule out a diagnosis of Rett syndrome.  These are referred to as exclusion criteria. Children with any one of the following criteria do not have Rett syndrome:  brain injury secondary to trauma, neurometabolic disease, severe infection that causes neurological problems; and grossly abnormal psychomotor development in the first 6 months of life.

Is treatment available?

There is no cure for Rett syndrome.  Treatment for the disorder is symptomatic — focusing on the management of symptoms — and supportive, requiring a multidisciplinary approach.  Medication may be needed for breathing irregularities and motor difficulties, and anticonvulsant drugs may be used to control seizures.  There should be regular monitoring for scoliosis and possible heart abnormalities.  Occupational therapy can help children develop skills needed for performing self-directed activities (such as dressing, feeding, and practicing arts and crafts), while physical therapy and hydrotherapy may prolong mobility.  Some children may require special equipment and aids such as braces to arrest scoliosis, splints to modify hand movements, and nutritional programs to help them maintain adequate weight.  Special academic, social, vocational, and support services may be required in some cases.

Childhood Disintegrative Disorder (CDD)

Childhood disintegrative disorder is a condition in which children develop normally through age 3 or 4. Then, over a few months, children lose language, motor, social, and other skills that they already learned.

Causes, incidence, and risk factors

The cause of childhood disintegrative disorder is unknown, but it has been linked to brain and nervous system problems. A child who is affected loses:

  • Communication skills
  • Nonverbal behaviors
  • Skills they had already learned

The condition is similar to autistic disorder

Symptoms

  • Delay or lack of spoken language
  • Impairment in nonverbal behaviors
  • Inability to start or maintain a conversation
  • Lack of play
  • Loss of bowel and bladder control
  • Loss of language or communication skills
  • Loss of motor skills
  • Loss of social skills
  • Problems forming relationships with other children and family members

Signs and tests

The health care provider will determine whether the child has this disorder, or a similar condition such as childhood schizophrenia or pervasive developmental disorder (autism).

The most important sign of childhood disintegrative disorder is the loss of developmental milestones. Generally, the diagnosis is made if the child has lost function in at least two areas of development.

Treatment

Treatment is the same as for autistic disorder (autism) because the two disorders are similar.

One experimental treatment uses steroid medications to slow the progression of the condition.