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Rett syndrome




Rett syndrome is a rare, severe, "girls only" form of autism. It's usually discovered in the first two years of life, and a child's diagnosis with Rett syndrome can feel overwhelming. Although there's no cure, early identification and treatment may help girls and families who are affected by Rett syndrome.

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Who Gets Rett Syndrome?

Rett syndrome is an autism spectrum disorder that affects girls almost exclusively. It's rare -- only about one in 10,000 to 15,000 girls will develop the condition.

In most cases of Rett syndrome, a child develops normally in early life. Between 6 and 18 months of age, though, changes in the normal patterns of mental and social development begin.

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What Are the Symptoms of Rett Syndrome?

Although it's not always detected, a slowing of head growth is one of the first events in Rett syndrome. Loss of muscle tone is also an initial symptom. Soon, the child loses any purposeful use of her hands. Instead, she habitually wrings or rubs her hands together.

Around 1 to 4 years of age, social and language skills deteriorate in a girl with Rett syndrome. She stops talking and develops extreme social anxiety and withdrawal or disinterest in other people.

Rett syndrome also causes problems with muscles and coordination. Walking becomes awkward as girls develop a jerky, stiff-legged gait. A girl with Rett syndrome may also have uncoordinated breathing and seizures.

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What Causes Rett Syndrome?

Most children with Rett syndrome have a mutation in a particular gene on the X chromosome. Exactly what this gene does, or how its mutation leads to Rett syndrome, isn't clear. It's believed that the single gene may influence many other genes involved in development.

Although Rett syndrome seems to be genetic, the faulty gene is almost never inherited from the parents. Rather, it's a chance mutation that happens in the girl's own DNA. No Rett syndrome risk factors have been identified, other than being female. There is no known method for preventing Rett syndrome.

When boys develop the Rett syndrome mutation, they die shortly after birth. Because boys have only one X chromosome (instead of the two girls have), the disease is more serious, and quickly fatal.

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How Is Rett Syndrome Diagnosed?

A diagnosis of Rett syndrome is based on a girl's pattern of symptoms and behavior. The diagnosis can be made on these observations alone. Discussions between a doctor and a girl's parents will help determine important details, such as when symptoms started.

Genetic testing can help confirm the diagnosis in 80% of girls with suspected Rett syndrome. It's possible that genetic testing can help predict severity.

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PDD-NOS stands for pervasive developmental disorder not otherwise specified. In essence, it's a diagnosis that means "on the autism spectrum, but not falling within any of the existing specific categories of autism."

A person is diagnosed with PDD-NOS if they have some behaviors seen in autism but don’t meet the full criteria for having an Autistic Disorder.

All children with PDD-NOS do not have the same symptoms. PDD-NOS symptoms can be mild, with the child exhibiting only a few symptoms while in school or at home. Other children may have a more severe form of PDD-NOS and have difficulties in all areas of their lives.

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PDD-NOS Signs & Symptoms

Often children with PDD-NOS are thought to have a "milder" form of autism, though this may not be technically true. One symptom may be minor, while another may be debilitating.

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Social Signs & Symptoms
Children with PDD-NOS usually have social symptoms as well. They may want friends, but don't know how to make them. If they have language delays this can also hinder their ability to socialize with others. Often children with PDD-NOS have difficulty understanding body language, facial expressions and tone of voice. Another common symptom of PDD-NOS is difficulty understanding emotions. The child may not be able to distinguish when someone is happy, sad or angry.
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Communication Signs & Symptoms
Children with PDD-NOS usually have language and communication problems. As babies, a child with PDD-NOS may not babble or when they do learn words, they exhibit "echolalia" repeating words or phrases over and over again. Children with PDD-NOS often take language literally and don't understand when someone is joking or being sarcastic. If the child with PDD-NOS has some language it is easier to expand language in these children, than it is with a child who is completely nonverbal.
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Behavioral Signs & Symptoms
Behavioral symptoms of PDD-NOS can include emotional outbursts and tantrums. These children may become very dependent on routines and have a need for things to be the same. They can misinterpret situations and become frustrated easily. It is important to remember when dealing with your child; often these tantrums are a result of fear, anxiety or misunderstanding a situation.
A common symptom of PDD-NOS is "perseveration" or dwelling on a certain subject. They often have an overwhelming preoccupation with one subject preferring only to talk about or play with toys that are associated with the area they are interested in.
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Childhood Disintegrative Disorder

Childhood disintegrative disorder is also known as Heller's syndrome. It's a very rare condition in which children develop normally until at least two years of age, but then demonstrate a severe loss of social, communication and other skills.

Childhood disintegrative disorder is part of a larger category called autism spectrum disorder. However, unlike autism, someone with childhood disintegrative disorder shows severe regression after several years of normal development and a more dramatic loss of skills than a child with autism does. In addition, childhood disintegrative disorder can develop later than autism does.

Treatment for childhood disintegrative disorder involves a combination of medications, behavior therapy and other approaches.

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Children with childhood disintegrative disorder typically show a dramatic loss of previously acquired skills in two or more of the following areas:
  • Language, including a severe decline in the ability to speak and have a conversation
  • Social skills, including significant difficulty relating to and interacting with others
  • Play, including a loss of interest in imaginary play and in a variety of games and activities
  • Motor skills, including a dramatic decline in the ability to walk, climb, grasp objects and perform other movements
  • Bowel or bladder control, including frequent accidents in a child who was previously toilet trained
Loss of developmental milestones may occur abruptly over the course of days to weeks or gradually over an extended period of time.
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