Genetic Mutations & Gene Therapy

What is autism? 

Autism is a development disorder that appears in the first 3 years of life, and affects the brain's normal development of social and communication skills (Citation 42). Autism is characterized in varying degrees, including: difficulties in social interaction, verbal and nonverbal communication, and repetitive behaviors. Different types of autism includes: Rett syndrome, childhood disintegrative disorder, pervasive development disorder-not otherwise specified (PDD-NOS) and Asperger syndrome. Autism can be associated with intellectual disability, difficulties in motor coordination and attention and physical health issues such as sleep and gastrointestinal disturbances. Some people with autism excel in visual skills, music, math, and art (Citation 43).

 (Citation 150)

Symptoms of Autism:

Children with autism generally have problems in three crucial areas of development — social interaction, language and behavior. But because autism symptoms vary greatly, two children with the same diagnosis may act quite differently and have strikingly different skills. In most cases, though, severe autism is marked by a complete inability to communicate or interact with other people.

Social skills

-Fails to respond to his/ her name

-Has poor eye contact

-Appears not to hear you at times

-Appears unaware of others' feelings

-Seems to prefer playing alone-- retreats to his/her "own world"

(Citation 154)


-Starts talking later than age 2, and has other developmental delays by 30 months

-Loses previously acquired ability to say words or sentences

-Doesn't make eye contact when making requests

-Speaks with an abnormal tone or rhythm-- may use a singsong voice or robot-like speech

-Can't start a conversation or keep one going

-May repeat words or phrases verbatim, but doesn't understand how to use them

(Citation 154)

 (Citation 152)


-Performs repetitive movements, such as rocking, spinning, or hand-flapping

-Develops specific routines or rituals

-Becomes disturbed at the slightest change of routines or rituals

-Moves constantly

-May be fascinated by parts of an object, such as the spinning wheels of a toy car

-May be unusually sensitive to light, sound and touch, and yet oblivious to pain

(Citation 154)

Risk Factors:

Autism affects children of all races and nationalities, but certain factors increase a child's risk. They include:

  • Your child's sex. Boys are 3-4 times more likely to develop autism than girls are.
  • Family history. Families who have one child with autism have an increased risk of having another child with the disorder. It's also not uncommon for the parents or relatives of an autistic child to have minor problems with social or communication skills themselves or to engage in certain autistic behaviors.
  • Other disorders. Children with certain medical conditions have a higher than normal risk of having autism. These conditions include fragile X syndrome, an inherited disorder that causes intellectual problems; tuberous sclerosis, a condition in which benign tumors develop in the brain; the neurological disorder Tourette syndrome; and epilepsy, which causes seizures.
  • Parents' ages. Having an older father (being 40 or older) may increase a child's risk of autism. There may also be a connection between children being born to older mothers and autism, but more research is necessary.
  • (Citation 155)

Treatments and Drugs:

No cure exists for autism, and there is no "one-size-fits-all" treatment. The range of home-based and school-based treatments and interventions for autism can be overwhelming.

Your doctor can help identify resources in your area that may work for your child. Treatment options may include:

  • Behavior and communication therapies. Many programs have been developed to address the range of social, language and behavioral difficulties associated with autism. Some programs focus on reducing problem behaviors and teaching new skills. Other programs focus on teaching children how to act in social situations or how to communicate better with other people. Though children don't always outgrow autism, they may learn to function well with the disorder.
  • Educational therapies. Children with autism often respond well to highly structured education programs. Successful programs often include a team of specialists and a variety of activities to improve social skills, communication and behavior. Preschool children who receive intensive, individualized behavioral interventions show good progress.
  • Medications. No medication can improve the core signs of autism, but certain medications can help control symptoms. Antidepressants may be prescribed for anxiety, for example, and antipsychotic drugs are sometimes used to treat severe behavioral problems.

           Managing other medical conditions
Autistic children may also have other medical conditions, such as epilepsy or gastrointestinal problems. Talk to your child's doctor about how to best manage your child's conditions together, and always tell each of your child's health care providers all the medications and supplements your child is taking. Some medications and supplements can interact, causing dangerous side effects.

(Citation 158)

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