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Monday, October 20, 2014

Autism Spectrum Disorder

What is autism?

Developmental disabilities are conditions, often lifelong, which consistently affect a person in early childhood and result from an impairment in mental, language, or physical ability.1 These disorders are typically found as a child fails to accomplish certain developmental milestones. One such developmental disorder is autism spectrum disorder (ASD). ASD is a common neurological condition affecting many children and adults in the United States.2 It is characterized by persistent impairment in social activity, restrictive and repetitive behaviors, and delayed language development. It has also become a sensational and controversial topic among many, in part due to its poorly understood causes and risk factors.

How many people are affected by ASD?

According to the most recent Centers for Disease Control and Prevention (CDC) estimates, 1 in 68 children have been identified with ASD.3 Boys are 4 times more likely than girls to be diagnosed with an ASD; however, girls with ASD are more likely than boys with ASD to have accompanying intellectual disability.4,5 It is thought that girls with autism who do not have intellectual disability are less likely to be diagnosed than boys, possibly due to the disease manifesting differently in girls, or due to differences in the ways boys and girls socialize and communicate.5

What types of ASD are there?

Autism spectrum disorder has been categorized into several different disorders, including autistic disorder, Asperger syndrome, Rett syndrome, and pervasive developmental disorder-not otherwise specified (PDD-NOS).2 As of the most recent guidelines, all of these are categorized as subtypes of ASD.5 Autistic disorder is the classic display of autism, with developmental, social, and behavioral symptoms, and frequently accompanied by intellectual disability and other issues. Asperger syndrome is a form of autism that includes social and behavioral difficulties, but does not include delayed language development or intellectual disability, and does not as often include epilepsy. It is one of the most prevalent types of ASD.6 Rett syndrome is a disorder found mainly in girls that involves similar presentation to autistic disorder, but in the form of regression/loss of previously held skills.6 Finally, PDD-NOS is a general diagnosis for children who have some symptoms of ASD, but do not meet the requirements for diagnosis of autistic disorder or Asperger syndrome.  This diagnosis is important for those who are not autistic but who still need additional help and support.  In addition to these subtypes, ASD can be categorized by different levels of severity:5 level 1 (requiring support), level 2 (requiring substantial support), and level 3 (requiring very substantial support).

What are the signs and symptoms of ASD?

There are 3 classic characteristics of ASD that typify these disorders. These are social impairment, repetitive and stereotyped behaviors, and delayed language development.4 Symptoms of social impairment begin at a young age, often noticeable by poor eye contact and a lack of using gestures or nonverbal methods of communication. These symptoms can also be expressed as a lack of emotional connection, failure to develop peer relationships, and a lack of seeking to share enjoyment or personal interests with others. Repetitive behaviors in ASD include words and actions, a tendency to line objects up into rows, inflexible adherence to routine, and preoccupation with certain patterns of interest. Delayed language development is another hallmark of ASD, although it is not typically present in patients with Asperger syndrome. Most children with ASD have a delay in learning language, and some never learn to speak at all. Some children begin to learn to speak, but regress.

How is ASD Diagnosed?

The CDC provides tools for providers to screen patients for diagnosis of ASD.7 These tools are primarily used by pediatricians and can help to identify ASD at young ages. Diagnostic screening tools examine a child’s behavior and language skills to identify signs and symptoms of ASD. Screenings are recommended to be conducted at regular visits at 9 months and older, after some of the first signs of ASD may begin to manifest. Early identification of ASD is important, as earlier diagnosis can lead to early intervention treatment, which is associated better outcomes.8

What secondary issues affect individuals with ASD?

In addition to the primary symptoms of ASD, there are many other disabilities that are often found in persons with ASD.6 Intellectual disability in and of itself is not a primary symptom of ASD, but is commonly found with ASD.4 Until recently, a very high percentage of diagnosed ASD patients were intellectually disabled.  However, in the past couple decades the assessment tools have become more able to detect more subtle symptoms of ASD in children, leading to a higher number of diagnosed individuals with ASD who do not have  intellectual disability.

Epileptic seizures are common with ASD, with between 11% and 39% of persons with ASD having epilepsy.6 Epilepsy is less common with high functioning, level 1 persons with ASD, or those with Asperger syndrome than it is in patients requiring more substantial support, or those with more severe intellectual disability. Epilepsy in individuals with ASD is medically treated the same as epilepsy in the general population.

Though the relationship between digestive issues and ASD is not well understood, issues such as constipation or diarrhea are common in ASD. Between 46% and 85% of patients have digestive issues. These issues can be managed the same as they are in the general population, through dietary and medical treatment.

Many individuals with ASD have other psychosocial and behavioral issues, such as obsessive compulsive behavior, attention-deficit/hyperactivity disorder, aggression, anxiety, depression, or bipolar disorder. Sleep issues are also common with ASD. These can follow from a number of reasons. The need for a routine and an ASD patient’s rigidity regarding that routine can cause sleep disturbance. There is also some evidence that ASD can involve an imbalance in melatonin, and melatonin supplements can be helpful to these patients.6

What are the causes of ASD? What are risk factors?

The causes of ASD and the mechanism by which this disorder affects the human nervous system is largely unknown. What is known is that genetic factors play a large role in the development of ASD.2 Children with a sibling or a parent with ASD are more likely than the general population to have ASD. Some environmental conditions, both prenatal and postnatal are thought to influence the occurrence of ASD. It is well established, however, that regardless of what some may claim, there is no correlation between childhood vaccinations, or the preservatives used in them, and the prevalence of ASD. Additionally, ASD is also not caused by parental mistreatment, as was once thought.  More research is currently being done across the country to help understand what leads to autism.9

There are some factors that are known to increase the risk of a child developing ASD.4 Boys are 4 to 5 times more likely to be diagnosed with ASD than girls are. Multiple genetic sites are linked to increased rates of ASD. Advanced parental age is also linked to an increased likelihood of ASD, due to risk of mutations.

Can ASD be prevented or cured?

While there are many legitimate treatments available for children and adults with ASD, there are also many false promises out there regarding this spectrum of disorders.10 Those offering preventions or cures for ASD often are based on weak science, or even fraud. Many of these treatments not only may not help, but some may even be harmful to a child in other ways, or may be expensive. While prevention or screening might be possible, a cure for ASD may not possible, because unlike a disease, ASD is a pervasive and defining characteristic of a person.11 The goal of treatment in ASD is to help patients adapt to living in the world, to build relationships of understanding despite the differences, and to reduce unwanted and harmful behaviors.8

How can ASD be Treated?

While medication can be an important element in the treatment of individuals with ASD, educational therapy with the goals of building communication and living skills, and reducing interfering and problematic behaviors is an irreplaceable cornerstone of therapy for persons with ASD.6,12 Working with a speech therapist is another way to treat communication difficulties in those with ASD. Important to any therapy is that professionals work closely with parents, teachers, siblings and others close to an autistic person, and that their learning is an important aspect of therapy as well.

Some medications have been shown to be helpful in improving behaviors associated with ASD. Risperidone, an antipsychotic medication has been approved by the Food and Drug Administration for the treatment of irritability and aggressive behaviors in ASD in adults and children over the age of 5.13 Another medication used in autism is aripiprazole, also an antipsychotic, which has been approved for agitation in ASD in adults and children over the age of 5.13

Where can I find more information on Autism Spectrum Disorder?

      The Autism Society
      The Flutie Foundation
      Autism Speaks
      The Autism Science Foundation

Written by:
Jim Stock, PharmD Candidate, 2015
UIC College of Pharmacy, Rockford

  
References
1.     Facts about developmental disabilities. Centers for Disease Control and Prevention website. http://www.cdc.gov/ncbddd/developmentaldisabilities/facts.html. Updated December 26, 2013. Accessed September 19 2014
2.     Autism Fact Sheet. National Institute of Neurological Disorders and Stroke, website. http://www.ninds.nih.gov/disorders/autism/detail_autism.htm. Updated April 16, 2014. Accessed August 29, 2014
3.     Baio J. Prevalence of autism spectrum disorder among children aged 8 years — Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2010. MMWR. 2014;63:1-21
4.     Johnson C, Meyers S. Identification and evaluation of children with autism spectrum disorders. Pediatrics. 2007;120(5):1183-1215
5.     Kupfer D, Regier D, Narrow W, eds, et al. Diagnostic and Statistical Manual of Mental Disorders. 5th ed. Arlington, Va; American Psychiatric Association; 2013 3
6.     Meyers S, Johnson C. Management of children with autism spectrum disorders. Pediatrics. 2007;120(5):1162-1182
7.     ASD Screening and Diagnosis. Centers for Disease Control and Prevention website. http://www.cdc.gov/ncbddd/autism/screening.html. Updated March 12 2014. Accessed September 19th 2014
8.     ASD treatment. Centers for Disease Control and Prevention website. http://www.cdc.gov/ncbddd/autism/treatment.html. Updated March 13 2014. Accessed September 19th 2014
9.     ASD Research. Centers for Disease Control and Prevention website. http://www.cdc.gov/ncbddd/autism/research.html. Updated April 9 2014. Accessed September 19th 2014
10.  Beware of non-evidence based treatments. Autism Science Foundation website. http://www.autismsciencefoundation.org/what-is-autism/autism-diagnosis/beware-non-evidence-based-treatments. updated 2014. accessed September 15, 2014
11.  Sinclair J. Don’t mourn for us. Autism Network International website. http://www.autreat.com/dont_mourn.html. Updated June 2002. accessed September 15, 2014
12.  Treatment options. Autism Science Foundation website. http://www.autismsciencefoundation.org/what-is-autism/autism-diagnosis/treatment-options. updated 2014. accessed September 15, 2014

13.  Micromedex 2.0 [database online].Greenwood Village, CO: Truven Health Analytics; 2014 http://www.micromedexsolutions.com/micromedex2/librarian/. Accessed September 19 2014

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