Wednesday, September 7, 2011

Autism and Pieces of the Puzzle

By:  Peyman Raoofi, Psy.D.

Autism is a lifelong neuro developmental disability that affects the way a person communicates and relates to people around him. Autistics have a combination of impairments of social interaction, social communication and imagination. Autism is one of five disorders that falls under the umbrella of Pervasive Developmental Disorders (PDD), a category of neurological disorders characterized by “severe and pervasive impairment in several areas of development.” The five disorders under PDD are: Autistic Disorder, Asperger's Disorder, Childhood Disintegrative Disorder (CDD), Rett's Disorder, PDD-Not Otherwise Specified (PDD-NOS). Each of these disorders has specific diagnostic criteria which been outlined in the American Psychiatric Association's Diagnostic & Statistical Manual of Mental Disorders (DSM-IV-TR).

Prevalence of Autism

Autism is the most common of the Pervasive Developmental Disorders, affecting an estimated 1 in 150 births (Centers for Disease Control Prevention, 2007). Roughly translated, this means as many as 1.5 million Americans today are believed to have some form of autism, and this number is on the rise. Based on statistics from the U.S. Department of Education and other governmental agencies, autism is growing at a startling rate of 10-17 percent per year. At this rate, the ASA estimates that the prevalence of autism could reach 4 million Americans in the next decade. Autism knows no racial, ethnic, social boundaries, family income, lifestyle, or educational levels and can affect any family, and any child. And although the overall incidence of autism is consistent around the globe, it is four times more prevalent in boys than in girls.

 Common Characteristics of Autism
Symptoms and behaviors of autism can combine in many ways and vary in severity. Autistic children and adults may or may not have speech, or quite often times the speech could be delayed. They make non-speech sounds (e.g. rrrrrrr), echolalia, and mimicking words without understanding what the word means. One characteristic which is quite common in autism is the individual's ‘insistence on sameness’ or 'perseverative' behavior. Many children become overly insistent on routines; if one is changed, even slightly, the child may become upset. Some common examples are: drinking or eating the same food at every meal, wearing certain clothing or insisting that others wear the same clothes, and going to school using the same route. One possible reason for insistence on sameness may be the person's inability to understand, and cope with novel situations. Lack of eye contact is another characteristic of autism. They appear to be unaware of people around them or show no real interaction with peers. Sometimes lack of imaginative play and pretend games can be seen in autistic kids. Autistic children and adults do not like being touched, hugged or being picked up. Some other distinguishing behaviors are spinning, movements and flapping of hands especially when they are over stimulated or particularly excited about something. Repetitive behaviors like re-winding a video and watch it several times, over and over again or lining up things such as their toys.
Some autistic children and adults love drawing; some can be musical, like numbers and mathematics, skilled at using computers, computer games, or using complex video/audio equipments. In general, people with autism can often have accompanying learning disabilities, but everyone with in this condition shares a difficulty in making sense of the world.
Causes of Autism
Although there is not any known unique cause for autism; there is growing evidence that autism can be caused by a variety of problems. There is some indication of a genetic influence in autism (90%). For example, there is a greater likelihood that two monozygotic twins (identical twins) will have autism than two dizygotic twins. Results of the five-year study led by the Autism Genome Project is reported in the Journal Nature Genetics has implicated a previously unidentified region of chromosome 11; and neurexin 1, a member of a gene family believed to play a key role in communication between brain cells. The neurexin finding highlighted a group of brain cells called glutamate neurons and the genes affecting their development and function, suggesting that they play a critical role in autism spectrum disorders. There is also evidence that the genetic link to autism may be a weakened or compromised immune system. Other research has shown the depression and dyslexia are quite common in one or both sides of the family when autism is present. There is also evidence that a virus can cause autism. There is an increased risk in having an autistic child after exposure to rubella during the first trimester of the pregnancy. Cytolomegalo virus has also been associated with autism. Additionally, there is also a growing concern that viruses associated with vaccinations, such as the measles component of the measles-mumps-rubella (MMR) vaccine and the pertussis component of the DPT shot may cause autism. There is growing concern that toxins and pollution in the environment can also lead to autism. The highest proportion of autism cases were found in the homes down-wind from the factory smokestacks. Medical conditions associated with an increased risk for autism include the following:
Fragile X syndrome (more common in males; may cause mental retardation),Tuberous sclerosis (syndrome that causes seizures, mental disorders, and tumors),Congenital rubella syndrome (results from transmission of the rubella virus in utero), Untreated phenylketonuria (PKU; hereditary disease caused by a defective enzyme). After all, no single region of the brain or pathophysiological mechanism has yet been identified as being associated with autism.
Diagnosing the Autism
There are no medical tests for diagnosing autism. An accurate diagnosis must be based on observations of the child's communication, behavior and developmental levels. However, because many of the behaviors associated with autism are shared by other disorders, a doctor may complete various medical tests to rule out other possible causes. Since the characteristics of the disorder vary so much, a child should be evaluated by a multidisciplinary team, which may include a neurologist, psychologist, and developmental pediatrician, speech/language therapist, learning consultant or other professionals knowledgeable about autism.
Treatment
The primary goal of treatment is to improve the overall ability of the child to function. A program that addresses helping parents and improving communication, social, behavioral, adaptive, and learning aspects of a child's life will be most successful.
The American Academy of Pediatrics (AAP) recommends the following strategies for helping a child to improve overall function and reach his or her potential:
·         Behavioral training and management. Behavioral training and management uses positive reinforcement, self-help, and social skills training to improve behavior and communication. Many types of treatments have been developed, including Applied Behavioral Analysis (ABA), Treatment and Education of Autistic and Related Communication Handicapped Children (TEACCH), and sensory integration. Applied Behavior Analysis is the design, implementation, and evaluation of environmental modifications to produce socially significant improvement in human behavior.  ABA includes the use of direct observation, measurement, and functional analysis of the relations between environment and behavior. ABA uses antecedent stimuli and consequences, based on the findings of descriptive and functional analysis, to produce practical change.
·         Specialized therapies. These include speech, occupational, and physical therapy. Occupational therapy helps to improve independent functions and teaches basic skills (e.g., buttoning a shirt, bathing). Physical therapy involves using exercise and other physical measures (e.g., massage, heat) to help patients control body movements.
·         Medications. In addition to behavioral, communicative and social learning approaches, Medications are most commonly used to treat related conditions. A variety of medications are used with autistic patients, including antidepressant, anti-anxiety, psychotropic and stimulant medications that help regulate behavior and mood.
·         Community support and parent training. Talking to the doctor or contacting an advocacy group for support and training.

Works Cited

Santangelo SL,  Tsatsanis K. “What is known about autism: genes, brain, and behavior.” American Journal of Pharmacogenomics 2005;5(2):71-92.

Ho A ,Todd RD ,Constantino JN. “Autistic traits in twins vs. non-twins--a preliminary study.” Journal of Autism and Developmental Disorders 2005 Feb;35(1):129-33.

Pinto-Martin J, Levy SE. “Early Diagnosis of Autism Spectrum Disorders.” Current Treatment Options in Neurology 2004 Sep;6(5):391-400.

“About autism.” <http://www.autism-awareness.org.uk>.

“Common Characteristics of Autism.” <http://www.ukautism.com/id1.html>.

“Autism Spectrum Disorders (Pervasive Developmental Disorders).” National                                                                                                                                                                                                                                                       Institute of Mental Health Publication No.04-5511April 2004

Grohol J. New Genetic Links for Autism.” Psych Central 2007.

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