What is Sickle Cell Disease

Figure 1: Sickle Cell Disease. 

What is Sickle Cell Disease?^1,2,3
Sickle cell disease (SCD) is part of a group of disorders called sickle cell syndromes, which are characterized by a defect in the red blood cells (RBCs) that produces an abnormal sickle cell hemoglobin (HbS). There are many types of SCD including HcSC, HbSβ⁺-thal, and HbSβ⁰-thal, but the most common type is HbSS. The sickle cell trait (SCT) is caused by inheritance of one normal hemoglobin gene and one abnormal HbS gene, and carriers of the SCT do not have any signs of the disease.

The defective hemoglobin in SCD induces a “sickling” of the shape of RBCs, which causes cells to clump together or aggregate within small blood vessels, as seen in Figure 1. This causes blood flow to be blocked, also known as vaso-occlusion, and leads to acute painful episodes and irreversible damage to many organs. SCD is a chronic, lifelong condition that has a significant burden on patients and their families, so it is important for those with SCD to become aware of the potentially life-threatening complications of this disease.

Who is affected by SCD?^1,4

Figure 2: Inheritance of Sickle Cell Anemia.

This disease most commonly affects African Americans or those of African descent. This is due to the possibility of the SCT having developed as a protective factor against malarial infection in these areas of the world where malaria is endemic.

SCD is an inherited genetic disease, and Figure 2 depicts the chances of inheriting SCD for a child born to parents who both carry the SCT.  If both parents carry the SCT and physician concern is high for the potential of SCD in the unborn child, prenatal testing can be done safely and accurately at the end of the first trimester.

Other interesting statistics:

●      About 90,000 Americans are currently living with SCD

●     In the United States about 1 in 500 African Americans and 1 in 36,000 Hispanic Americans are born with SCD

●      About 2 million Americans have SCT

●      1 in 12 African Americans are born with SCT

The introduction of the pneumococcal vaccine in 2000 helped reduce the risk of pneumonia, a common complication of SCD.  The SCD mortality rates in African American children decreased by 42% from 1999 to 2002, due to the increased protection from this invasive infection.

How is SCD diagnosed?^1,3

Prenatal testing for SCD is not necessary in most cases, so SCD is usually identified by routine infant screening tests. Typically screening is performed by a simple blood test that is sent to an outside laboratory for processing. In the United States newborn screenings for sickle cell hemoglobin is required by most states, and this early diagnosis has allowed for timely comprehensive care in newborns who test positive for SCD.

What are the sign, symptoms, and complications associated with SCD?^1,3,5

v  Anemia: Patients with SCD have hemoglobin levels often ranging from 6 to 9 g/dL, well below the normal range of 13 to 15 g/dL. These patients will also have elevated levels of immature RBCs. RBCs undergo accelerated destruction with lifespans ranging from as little as 10 to 15 days, compared to the usual lifespan of 120 days. Patients with less severe forms of SCD will have lower rates of RBC destruction, and patients with infections may experience decreased hemoglobin levels due to suppression of the production of RBCs.

v  Vaso-occlusion: This is the most common and painful complication of SCD and is a major cause of morbidity and mortality associated with the disease. Vaso-occlusion is a result of the sickled RBC aggregation that can cause damage in many areas. Loss of blood supply can occur in small or large blood vessels.

o   Acute pain crises are the cause of most SCD-related hospitalizations and are typically localized to one area such as the chest, back, abdomen, or joints. Most pain events are triggered by a viral or bacterial infection. Many patients will be able to distinguish pain from SCD from pain due to any other cause because of the recurrent nature of these acute pain crises.

o   Acute chest syndrome (ACS) is a vaso-occlusive crisis that affects the pulmonary system and is the most common cause of death from SCD. Diagnosis of ACS is made by a combination of acute chest pain, abnormal substances in the lungs detected on a chest x-ray, and low levels of oxygen in the blood. ACS is most commonly caused by infection, and additional signs to monitor for include cough, fever, wheezing, shortness of breath, and hyperventilation. It is important to institute prompt and aggressive management of ACS to prevent progression.

o   Chronic organ damage occurs from the long-term effects of vaso-occlusive episodes and limited blood flow to these organs. Organ systems that may be damaged include the nervous system, heart, lungs, liver, reproductive system, urinary system, bones, skin, and eyes.

What is the treatment of SCD?^1,3,6,7

v  Oxygen is given to patients experiencing acute pain crises to minimize the risks of low oxygen levels in the blood, which can cause further sickling of the RBCs.

v  Antibiotics are given if doctors suspect a bacterial infection is present, since SCD patients are at a high risk of life-threatening bacterial infections. Some cases of ACS are difficult to differentiate between pneumonia, so patients with ACS will often be treated with antibiotics. Some patients are treated with penicillin as a preventative measure if they are viewed as a higher risk for developing future infections.

v  Pain management

o   This is an important aspect in the care of patients with SCD. The main goal of therapy is to relieve pain and allow patients to maintain maximal functional ability, and pain management regimens should be tailored to each patient.

o   Mild to moderate pain may be treated with acetaminophen or nonsteroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen or naproxen. An opioid pain medication may be added if pain is persistent.

v  Hydroxyurea

o   The goal of therapy for SCD is to prevent the sickling of RBCs and increase the production of fetal hemoglobin (HbF) in the blood to inhibit abnormal RBC aggregation. HbF is a form of hemoglobin that comprises approximately 1% of total hemoglobin, although it is the predominant form of hemoglobin before birth. HbF helps reduce RBC aggregation due to its high affinity for oxygen in the blood. The higher the HbF levels, the less RBC sickling will occur, resulting in fewer pain crises.

o   Benefits of hydroxyurea therapy include increased hemoglobin levels, decreased destruction of RBCs, and a significant reduction in permanently sickled cells in the blood, all of which will help reduce the frequency of acute pain crises.

v  Exchange transfusion is a process that removes a patient’s blood and replaces it with blood without sickle cell hemoglobin. These transfusions are sometimes required during episodes of ACS to prevent progressive vaso-occlusion.

v  Stem cell transplant is a newer treatment option that is still being studied for its effectiveness and safety. It is the only potential curative option but comes with many risks and financial costs.

Where can I find more information on SCD?

v  Centers for Disease Control and Prevention

o   http://www.cdc.gov/ncbddd/sicklecell/index.html

o   Contains free materials and helpful patient tip sheets

v  American Sickle Cell Anemia Association

o   http://www.ascaa.org/

v  Sickle Cell Kids

o   http://www.sicklecellkids.org/

v  Sponsored by the Sickle Cell Disease Association of America

o   http://www.sicklecelldisease.org/

Written by:

Emily Kim, PharmD Candidate, 2015

UIC College of Pharmacy

References

1. Chan C, Frei-Jones M. Sickle Cell Disease. In: DiPiro JT, Talbert RL, Yee GC, Matzke GR, Wells BG, Posey L. eds. Pharmacotherapy: A Pathophysiologic Approach. 9^th ed. New York, NY: McGraw-Hill; 2014. http://accesspharmacy.mhmedical.com/content.aspx?bookid=689&Sectionid=48811488. Accessed August 26, 2014.

2. Benz EJ Jr. Disorders of Hemoglobin. In: Longo DL, Fauci AS, Kasper DL, Hauser SL, Jameson J, Loscalzo J. eds. Harrison's Principles of Internal Medicine. 18^th ed. New York, NY: McGraw-Hill; 2012. http://accesspharmacy.mhmedical.com/content.aspx?bookid=331&Sectionid=40726842. Accessed August 26, 2014.

3. Bunn H. Sickle Cell Disease. In: Bunn H, Aster JC. eds. Pathophysiology of Blood Disorders. New York, NY: McGraw-Hill; 2011. http://accessmedicine.mhmedical.com/content.aspx?bookid=676&Sectionid=44827775. Accessed September 2, 2014.

4. Sickle Cell Disease. Centers for Disease Control and Prevention website. http://www.cdc.gov/ncbddd/sicklecell/index.html. Updated July 14, 2014. Accessed September 2, 2014.

5. Schrier SL. Red blood cell survival: Normal values and measurement. In: Post TW, ed. UpToDate. Waltham, MA: UpToDate; 2014. www.uptodate.com. Accessed September 26, 2014.

6. Preboth M. Practice guidelines: management of pain in sickle cell disease. Am Fam Physician. 2000;61(5):1544-1550.

7. NICE clinical guideline 143: Sickle cell acute painful episode: management of an acute painful sickle cell episode in hospital. National Institute for Health and Clinical Excellence website. http://www.nice.org.uk/guidance/cg143/resources/guidance-sickle-cell-acute-painful-episode-management-of-an-acute-painful-sickle-cell-episode-in-hospital-pdf. Published June 2012. Accessed September 2, 2014.

ALS

(picture courtesy alsa.org) 

Starting in August 2014, the “Ice Bucket Challenge” has taken the internet by storm. The challenge is simple; once nominated, the challengers have to dump a bucket of ice water over their heads within 24 hours or donate some amount of money to the Amyotrophic Lateral Sclerosis Foundation. People have performed this challenge by themselves, with friends, even on top of mountains with a helicopter. As friends challenge friends, this #IceBucketChallenge has even reached celebrities such as  Bill Gates, Chris Pratt, the Old Spice Man, George Bush, Oprah, Justin Timberlake, and more. All this recent media revolving around the ice bucket challenge has brought in $100 million in donations for the ALS Foundation, and more importantly, spread awareness about ALS. But...what exactly is ALS?

What is ALS?

ALS stands for amyotrophic lateral sclerosis and is often referred to as Lou Gehrig’s Disease or Charcot’s disease.^1,2 It is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord. Motor neurons connect the brain to the spinal cord, and then the spinal cord to muscles. As these motor neurons degenerate, they can no longer send signals to the muscle fibers that normally result in muscle movement. The progressive nature of ALS eventually leads to the death of the motor neurons. As these motor neurons die, the brain loses the ability to control muscle movements. As the disease gets progressively worse, patients will eventually be totally paralyzed. Most patients with ALS will only live for 2 to 5 years.³

How many people are affected by ALS?

ALS can strike anyone, with no racial, ethnic, or socioeconomic patterns.^1,2 Usually, people between the ages of 40 to 70 are affected. ALS is slightly more common in men than women. It is estimated that 30,000 Americans may have the disease, and approximately 5,600 people in the United States are diagnosed every year. Roughly, it occurs in 1 to 3 per every 100,000 people.¹

What types of ALS are there?

There are 2 types of ALS.^1,2 Sporadic ALS (SALS) is the most common form of ALS (90% to 95% of all cases). Like the name suggests, this type of ALS can affect anyone, anywhere. Another type of ALS is known as familial ALS (FALS), which is when ALS occurs more than once in a family lineage. This type accounts for 5% to 10% of all cases. Through research, scientists have identified some common genes known to be associated with FALS, though not all. There is a third type of ALS, but this type appears in specific regions of Guam or Papua New Guinea.¹

What are the common signs and symptoms associated with ALS?

The early signs and symptoms of ALS vary depending on which motor neurons are affected.^1,2 However, the initial hallmark sign of ALS is muscle weakness. This weakness can start in the hands, arms, feet, and/or legs. Typically, muscle weakness develops on one side and it appears gradually. It can be as subtle as tripping over carpet edges. Muscle mass can decrease and muscles spontaneously twitch. Sometimes, patients with a lot of these muscle twitches or jerks complain of muscle soreness and stiffness more than weakness. The muscles can cramp as well early on in the disease, usually early in the morning. Some patients have described it as being similar to a muscle cramp while stretching in bed.

The muscles controlling swallowing, breathing, and speech can be affected as the disease spreads.^1,2 Patients can experience trouble speaking and the exaggeration of expressions of emotion, which leads to involuntary, excessive laughing or crying, called a pseudobulbar affect (PBA). As the disease progresses, more and more muscles are involved. Shortness of breath and difficulty in breathing and swallowing can be experienced by patients. Eventually, the person may have to get a ventilation machine to help with breathing. But the 5 senses of sight, touch, hearing, taste, and smell are not affected. Even in the late stages of ALS, bowel, bladder, and cognitive functions remain normal.

What are common causes or risk factors for ALS?

Because most of the ALS cases are sporadic, there are no definitive common causes or risk factors.^1,2 However, military veterans who were deployed during the Gulf War are approximately twice as likely to develop ALS. Based on an analysis of a several studies, smoking is associated with an increased risk of ALS.⁴ Formaldehyde exposure is also associated with an increased risk for ALS. But pesticide or herbicide exposure is not.

There is a genetic test available for FALS.^4­ Because this type of ALS is inherited, there are some inheritance patterns that have been identified. One such test can detect up to 35% of genetic mutations that can cause FALS.⁵

Why is early diagnosis important?

ALS is difficult to diagnose.^1,2 ALS has no cure, but there are other neurologic diseases that may look similar to ALS that can be treated, so it is important to have the correct diagnosis. If the patient does actually have ALS and the diagnosis is made early, the family can help the patient with emotional, mental, and moral support, as well as physical support as time continues. It is also important to note that because ALS is a rare disease, patients are encouraged to get a second medical opinion for diagnosis.

ALS also does not have a specific test for its identification.^1,2 To differentiate ALS from other disorders, healthcare workers call this a “diagnosis of ruling out”. A comprehensive work up is, however, required for this ruling out process; blood and urine tests, thyroid and parathyroid hormone tests, spinal tap, X-rays, magnetic resonance imaging (MRI), myelogram, muscle and/or nerve biopsy, and neurological examination. But early diagnosis is important for supportive care. Patients with FALS do have an option of getting genetic testing as mentioned above. However, treatment would not be different.

What medications are used in the treatment of ALS?

As mentioned above, ALS has no cure.^1,2,4 However, there is a drug called riluzole that can slightly increase length of survival, by about 2 to 3 months. Other medications are available to relieve any symptoms patients may experience.

Riluzole (Rilutek) does not reverse the damages already done to the neurons.^6,11 It affects both signaling pathways and signaling proteins in the central nervous system. This medication extends the time before a person needs help breathing with ventilation support. Some of the common side effects from this medication includes an increase in blood pressure, increase in heart rate, abdominal pain, diarrhea, loss of appetite, nausea, vomiting, decreased lung function, feeling weak, joint pain, dizziness, sleepiness, and vertigo. But not all of these side effects are felt by everyone, or if at all. There are some rare but serious side effects including cardiac arrest, low white blood cells or neutropenia, increased liver function tests, hepatitis, jaundice, or interstitial lung disease. Remember to always talk to a physician or pharmacist with any questions about side effects and medications.

As mentioned before, there are some medications available to help treat some of the symptoms caused by ALS, such as fatigue, muscle cramps, muscle spasms, excess saliva, pain, depression, sleep disturbances, and constipation.^1-3 The possible treatment options are summarized below.

●      Drooling: Botulinum toxin type B or low-dose radiation therapy to salivary glands can help decrease or stop drooling.

●      Excessive laughing or crying: (also known as pseudobulbar affect or involuntary emotional expression disorder) Nuedexta (dextromethorphan and quinidine) is recommended.

●      Fatigue: There are no medications currently to help with fatigue. Riluzole can actually cause fatigue in some people, so talk to your physician if you are feeling tired while taking riluzole.

●      Spasms: There is no specific recommendation, but benzodiazepines, baclofen, dantrolene, and tizanidine have been used in patients with multiple sclerosis and cerebral palsy, who also experience muscle spasms.

●      Cramps: Similar to spasms, there are no specific recommendations, but there are treatments that can be tried. Gabapentin, vitamin E, and riluzole have been used for this indication, however, studies that did look that these medications show that they may not help everyone.

●      Depression: There are no recommendations on a specific medication, but there are many effective treatments available.

●      Insomnia: Just like depression, there are no specific recommendations, but there are also many treatment options.

Earlier on in the disease state, there are some rehabilitative options to assist ALS patients.¹ Foot-drop splints can help prevent someone from tripping. Finger extension slips can help someone get a better hand grip on items. Diet and nutritional support is especially important for patients with ALS as they develop problems with swallowing and choking. For difficulty swallowing, a feeding tube may help restore normal nutrition. For those patients whose disease states have progressed to respiratory failure, mechanical ventilation can be an option.

What can I do to prevent ALS?

There is currently no way to prevent ALS. However, research towards ALS certainly helps. Scientists can continue to research more effective treatments and genetic testing to help better the lives of those who have been affected by ALS.

Where can I find more information on ALS?

●      ALS Association
http://www.alsa.org/

●      ALS Therapy Development Institute
http://www.als.net/

●      GeneTests: Genetic Testing Available and Near You
https://www.genetests.org/search/disorders.php?search=Amyotrophic%2520Lateral%2520Sclerosis&submit=Search&start=0

●      KidsHealth: Lou Gehrig’s Disease For Kids
http://kidshealth.org/kid/grownup/conditions/als.html

●      Muscular Dystrophy Association, ALS Division Fact Sheet http://static.mda.org/publications/PDF/FA-ALS.pdf

●      National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/disorders/amyotrophiclateralsclerosis/ALS.htm

●      ALS Association Facts Sheet - Spanish
http://www.alsa.org/en-espanol/qu-es-la-ela.html?print=t

Written by:

Yijia Luo, PharmD Candidate, 2015

UIC College of Pharmacy

References

1.     Brown RH Jr. Amyotrophic lateral sclerosis and other motor neuron diseases. In: Longo DL, Fauci AS, Kasper DL, Hauser SL, Jameson J, Loscalzo J. eds. Harrison's Principles of Internal Medicine, 18e. New York, NY: McGraw-Hill; 2012. http://accesspharmacy.mhmedical.com/content.aspx?bookid=331&Sectionid=40727190. Accessed August 28, 2014.

2.     Standaert DG, Roberson ED. Treatment of central nervous system degenerative disorders. In: Brunton LL, Chabner BA, Knollmann BC. eds. Goodman & Gilman's The Pharmacological Basis of Therapeutics, 12e. New York, NY: McGraw-Hill; 2011. http://accesspharmacy.mhmedical.com/content.aspx?bookid=374&Sectionid=41266228. Accessed August 28, 2014.

3.     Miller RG, Jackson CE, Kasarskis EJ, England JD, Forshew D, Johnston W, et al. Practice parameter update: the care of the patient with amyotrophic lateral sclerosis: multidisciplinary care, symptom management, and cognitive/behavioral impairment (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology. Neurology. 2009;73(15):1227-1233. doi:10.1212/WNL.0b013e3181bc01a4.

4.     Dynamed [online database]. Ipswich, MA: EBSCOHost; 2014. http://search.ebscohost.com/login.aspx?direct=true&db=dme&AN=116744&site=dynamed-live&scope=site. Updated June 25, 2014. Accessed September 2, 2014.

5.     ALS DNA Tests Available. Muscular Dystrophy Association website. http://mda.org/alsn/als-dna-tests-available. Accessed September 17, 2014.

6.     Rilutek [package insert]. Bridgewater, NJ: Sanofi-Aventis; 2012.

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

http://www.autism-society.org/

●      The Flutie Foundation

http://www.flutiefoundation.org/

●      Autism Speaks

http://www.autismspeaks.org/

●      The Autism Science Foundation

http://www.autismsciencefoundation.org/

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