Autistic disorder (AD) is one of the
great modern medical mysteries; the cause of the condition is unknown, and,
despite significant research, no cure is available. Caring for an autistic
child can be frustrating and one of the biggest challenges a parent or
caregiver may ever face. An autistic child resists affection and seems
disconnected from the outside world. In many cases, the child develops
normally during the first few years of life until the disease takes hold,
causing him or her to regress and lose many communication skills. Ultimately,
the parent or caregiver may feel helpless despite his or her best effort to
care for the child.
The term autistic is derived from the Greek word autos, meaning "self." In 1911, psychiatrist Eugen Bleuler used the term autistic to describe the social isolation of schizophrenia.1 To this day, AD and schizophrenia are thought to be closely related. In the 1940s, researchers Leo Kaner and Hans Asperger published separate reports defining autism as a psychological disorder and provided case studies to describe its clinical characteristics.1 Although the condition is commonly referred to as autism in older literature and by the media, autistic disorder is now the preferred terminology in the medical field.
AD is classified as one of the five types of pervasive developmental disorders, also known as autistic spectrum disorder (ASD).2 Other pervasive developmental disorders include Asperger's syndrome, childhood disintegrative disorder, Rett's syndrome, and pervasive developmental disorder not otherwise specified.2 Although AD and Asperger's syndrome share many of the same symptoms, children with AD are generally diagnosed at an earlier age, experience more communication and social impairments, and score lower on IQ tests than do children with Asperger's syndrome.3
While its clinical presentation varies from individual to individual, AD is defined broadly as a complex neurologic disorder involving several regions of the brain.2 The condition is characterized by a triad of symptoms--an impairment in social interaction, a deficit in communication skills, and a routine, repetitive pattern of behavior.2 AD affects approximately one in every 1,000 children and is three to four times more prevalent in boys than it is in girls.2 Many reports indicate a recent increase in incidence of AD in the United States, although the rise may be due in part to better diagnostic procedures.3
Etiology and Pathophysiology
The etiology of AD is unknown.
Although many factors have been hypothesized to have a role in its
development, there is no conclusive evidence. Genetics seems to be linked
strongly to its origin; other possible links include pregnancy/birth
complications and food allergies.4
The most controversial theory regarding the etiology of AD is the alleged link between the condition and the measles, mumps, and rubella (MMR) vaccine (or any other vaccine containing thimerosal). The link was postulated based on the pediatric vaccination timetable. Children receive the MMR vaccine at or after 12 months of age.5 Signs of AD may begin to appear at this time or a few months later. Opponents of this theory attribute the link to a timing coincidence. Although a child may be autistic prior to receiving the vaccination, signs of the condition do not present until the child displays impairment in communication and interaction skills. Generally, the earliest signs of impairment are not measurable until the child reaches 12 months, which coincides with the timing of the vaccination.2 The most recent studies in this area indicate that no direct relationship exists between vaccinations and the development of AD.5 In fact, the American Academy of Pediatrics, the Institute of Medicine, and the Centers for Disease Control and Prevention do not support the theory due to the lack of substantial evidence proving a link.2
Because the exact cause of AD is unknown, the pathophysiology is also largely unknown. Abnormalities seem to originate in the amygdala and the left frontal cortex of the brain.6 Neurons in these areas appear smaller than those in healthy individuals and have fewer connections to other regions of the brain.6 This decrease in neuronal activity may cause the clinical signs and symptoms that appear in autistic individuals.6
Certain genetic conditions may predispose an individual to developing autism. Such conditions include fragile X syndrome, tuberous sclerosis, untreated phenylketonuria, and congenital rubella syndrome.2 Fragile X syndrome is one of the most common causes of mental retardation and neuropsychiatric disease. The syndrome is caused by a trinucleotide repeat at an inherited fragile site on the X chromosome. Symptoms include delayed speech, hyperactivity, tactile defensiveness, and gross motor delays.3 Tuberous sclerosis is a rare genetic disease that causes benign tumors to grow in the brain and other vital organs, such as the kidneys, heart, eyes, lungs, and skin. Tuberous sclerosis commonly affects the central nervous system. In addition to benign tumors, other common symptoms include seizures, mental retardation, behavioral problems, and skin abnormalities.7
Phenylketonuria is an inherited error of metabolism caused by a deficiency in the enzyme phenylalanine hydroxylase. If left untreated, the enzyme deficiency results in mental retardation and organ damage.7 Congenital rubella syndrome is an infection by the rubella virus during the first trimester of pregnancy, causing heart disease, deafness, and blindness in the newborn.8
Patients with AD experience symptoms that are highly variable in terms of severity, range, and progression. The first signs of AD typically develop by age 3 and continue throughout life, although they may be alleviated by treatment.2
Early signs and symptoms that should alert parents and pediatricians that a child needs further evaluation for AD include the child's not smiling by six months of age; not babbling, pointing, or using other gestures by 12 months; and not using single words by 16 months. Furthermore, the child does not use two-word phrases by 24 months and demonstrates regression in his or her development with any loss of language or social skills.
Infants with AD may also avoid eye contact and, as they get older, act as if they are unaware of when people come and go around them. Although AD is not usually diagnosed until about age 3, some experts believe that some children as young as six months begin to show subtle signs. Many autistic individuals suffer from complications such as seizures, bipolar disorder, and depression. 3 While the majority of children with AD are intellectually challenged, a small percentage are classified as autistic savants.2 Autistic savants are defined as autistic individuals who display the common symptoms of AD but also have extraordinary mental abilities, most often in the fields of numerical calculation, art, and music.2
Signs and symptoms of AD can be categorized into three main areas: social interaction, communication skills, and behavior. Table 1 provides examples of symptoms specific to each category. Certain deficits in the child's development may alert parents to the possibility that their child has AD. Parents should consult a pediatrician if their child does not babble or make gestures by 12 months of age, does not use single words by 16 months of age, does not use two-word phrases by 24 months of age, or seems to have lost a skill he or she previously had at any age.9 These are "red flags" that are absolute indications for immediate evaluation.
In October 2007, two new clinical reports from the American Academy of Pediatrics were released to help pediatricians diagnose ASDs earlier and guide families to effective interventions.10,11 The goal is to improve the lives of children with ASDs and their families. The first report advocates universal screening, which implies pediatricians conduct formal ASD screening on all children at 18 and 24 months regardless of whether there are any signs of ASD.10 Although tests such as electroencephalography and computed tomography may appear abnormal, no single laboratory test can confirm a diagnosis of AD.3 Screenings for AD are performed at regular visits with a pediatrician. Patients are referred to a specialist if they display common signs of AD, such as unresponsive or repetitive behavior. 3 The specialist observes the child, performs developmental tests, and gathers background information from the child's parents or caregivers. 2 Children with AD are usually diagnosed at 2 or 3 years of age.2
Goals of Therapy
As no curative treatment is available for AD, therapy focuses on helping patients lead more functional lives by alleviating the common triad of symptoms. Primary goals include improving social interaction, developing communication skills, and reducing behavioral problems (e.g., aggression, agitation, hyperactivity, compulsive behavior).3 Other goals include the treatment of related conditions, such as seizures and bipolar disorder. Both nonpharmacologic and pharmacologic therapies are used to assist the patient in reaching these goals.
Treatment of AD must be tailored to
the patient's age and symptoms. Young children (2 to 5 years) with AD
typically display hyperactivity and irritability.12 Usually, this
age-group requires speech therapy, language therapy, and special education.
12 Pharmacotherapy may be used for certain target symptoms.12
Older children (6 to 11 years) commonly display aggression and self-injurious
behavior, while adolescent (12 to 17 years) and adult patients often
experience depression, obsessive-compulsive disorder, and anxiety.1
Patients in these age-groups may require psychotherapy, behavioral or
cognitive therapy, and pharmacotherapy.1
Hundreds of nonpharmacologic treatment programs are available for patients with AD. Nonpharmacologic treatment is the mainstay of any program that aims to improve an autistic individual's ability to interact with others and function in daily activities.2 Because nonpharmacologic treatment programs vary widely in content, they may be grouped into categories according to their general methods. Popular categories of programs include neurologic/sensory treatment, psychological treatment, behavioral therapy, modified diet therapy, and vitamin therapy.2
Neurologic/Sensory Treatment: Neurologic and sensory treatment targets the complete triad of symptoms and is perhaps the broadest category.13 A sampling of the most popular and well-established programs is given below.
Auditory training is thought to improve sensory function. During treatment sessions, patients listen to high and low frequencies of music. The treatment goal is to desensitize patients to painful stimuli that would normally trigger behavioral problems. While this method is safe and reportedly effective, it is expensive.13 Sensory integration therapy is similar to auditory training and involves listening to various sounds and touching various textures. The goal is to help patients cope with sensory stimulation, thereby improving behavior.13
Daily life therapy, also known as Higashi, originated in Japan. Daily life therapy emphasizes physical education and the arts. Upon entering high school, patients participate in community work and complete job training. The program aims to foster independence in individuals with autism.13 Speech and language therapy teaches autistic patients to communicate more effectively. The program places more emphasis on improving social interaction through the use of language and communication techniques than on teaching rudimentary language skills.3 Music therapy consists of singing, moving to music, and playing instruments. Music therapy aims to improve socialization and behavior.13
Psychological Treatment: Logically, psychological therapy is a major component of any autism treatment program. Integrating psychological treatment with neurologic treatment allows the practitioner to treat the disorder from different angles.3 The following therapies are categorized as psychological treatment.
Holding therapy is a variation of sensory integration therapy. During a session, the parent and child sit face-to-face for a specified length of time. The parent is instructed to hold the child, even if he or she resists. The program aims to help the patient adjust to and overcome sensory overload. 12 Psychoanalysis must be performed by a trained health care professional. A formal diagnostic evaluation often includes psychoanalysis, which is helpful in directing therapy and determining the areas that require the most attention.3 Psychotherapy is also performed by a trained health care professional. Although the type of therapy and methodology varies among practitioners, the goal of any psychotherapy program is to help the patient feel more comfortable with social interaction and become more self-sufficient in activities of daily life.3
Behavioral Therapy: Behavioral therapy targets behaviors that prevent the patient from being independent by employing the scientific principle that children are more likely to repeat behaviors or responses for which they are rewarded and less likely to continue behaviors that are not rewarded. Therapists often teach skills in a very structured manner and provide praise and reinforcement. Aggressive or self-stimulatory behaviors are reduced or replaced by ignoring them or by introducing more socially acceptable forms of behavior. The following programs are examples of behavioral therapies.
TEACHH (Treatment and Education of Autistic and Related Communication Handicapped Children) is not a teaching program but, rather, a behavior management system. TEACHH uses structure and modified environments to help children with autism learn self-care skills.13 The Lovaas Method , developed by Dr. Ivar Lovaas, is a behavior modification program that involves intensive one-on-one time with a trainer.13 The Lovaas Method requires a time commitment of 40 hours per week.13 Occupational therapy helps the patient become more independent through the development of basic skills, such as buttoning a shirt, bathing, and grooming. 3 Adaptive physical therapy uses exercise and other physical techniques to help patients improve their coordination and control body movements.3
Modified Diet Therapy: Modified diet therapy is one of the more controversial therapies used to treat children with AD. Although many experts dispute the theory, some specialists believe that food allergies or digestive problems are the cause of behavioral problems in many autistic children.4 Because autistic individuals often cannot communicate effectively, they are unable to express feelings of discomfort. As a result, these patients may become frustrated and their behavior may worsen.
Modified diet therapy seeks to improve behavior by eliminating certain foods that commonly cause food allergies in autistic patients.4 Caregivers whose children follow this program may be instructed to avoid casein (a milk protein) or gluten (a protein found in wheat, oats, barley, and rye).4 In more severe cases, caregivers must eliminate both proteins from the patient's diet.4 It is important to realize that this program does not eliminate the cause of AD, but it may, however, help alleviate some behavioral symptoms.
Vitamin Therapy: Another controversial therapy involves the use of vitamins to improve symptoms associated with AD. While some experts support the use of vitamins as a supplemental treatment, others do not recognize this therapy as an effective way of treating autistic behavior. The regimens discussed in this section are those that have been studied in controlled trials and appear frequently in resources directed to caregivers of autistic children.
Although many vitamins are reported to improve a patient's general well-being, a few vitamins and herbal preparations have demonstrated some benefit in treating symptoms associated with AD. Vitamin B6 combined with magnesium is one popular regimen.14 Studies have demonstrated that vitamin B6 may decrease hyperactivity and improve behavior, as well as increase attention span.14 Magnesium appears to enhance the action of vitamin B6.14
Another common regimen is cod liver oil, containing vitamins A and D.4 Some clinicians recommend this regimen because children with food allergies may have damaged mucosal surfaces, which impairs their ability to absorb vitamin A palmitate found in infant formula and low-fat milk. Cod liver oil is rich in vitamin A and is more readily absorbed in these children. Vitamin D acts as a supplement for children who have allergies to milk proteins and therefore do not consume milk fortified with vitamin D.4
Vitamin C may help treat depression and behavioral symptoms through a dopaminergic mechanism of action.15 Of course, vitamin therapy should only be used in conjunction with other behavioral, psychological, and sensory therapies and should not be implemented without the full knowledge of the attending physician.
The Role of the Pharmacist
The pharmacist can help the
caregiver understand that no standard treatment exists for autistic patients.
Because each case of AD is different due to the severity and range of
symptoms, effective treatment programs vary widely from patient to patient.
2 Even the most established treatments work only for a small fraction of
patients. A good specialist will tailor a treatment regimen to fit the
patient's specific needs. Because no cure exists, treatment is aimed at
alleviating lifelong symptoms.2 The pharmacist should also
recognize that many of his or her patients will be using nonstandard therapies
and should become knowledgeable about complementary and alternative medicine.
The pharmacist should remain nonjudgmental and show sensitivity and help
families learn to evaluate scientific evidence and recognize unsubstantiated
Coping Strategies and Resources: Caregivers are under a great deal of stress; they should be advised to take time for themselves, along with their spouse or other children, to cope with their situation and avoid feelings of resentment toward the autistic child. Some states provide funding for respite programs, which provide care for the autistic patient in emergency and planned support situations. Respite services can be provided in the patient's home, a caregiver's home, community locations, a camp, or a respite house.3
Family counseling and support groups may benefit those who care for autistic patients. Parents and caregivers may find many helpful resources and support services on the Internet, and the pharmacist can direct them to useful sites. Some organizations and support services for caregivers are listed in TABLES 2 and 3.
Insurance coverage is a major concern of caregivers of autistic patients, who
may need assistance in obtaining funding for the treatment programs that best
suit their child. Treatment programs are often costly due to the intensity and
time involved and the need for trained specialists. Because AD is not
categorized solely as either a neurologic or psychological disorder, insurance
companies will often deny coverage because the treatment does not fit into a
specific category of covered services.3 The concept is similar to
that of nonformulary medications. For example, the patient's physician may
want the patient to be enrolled in a behavioral therapy program, such as the
Lovaas Method. However, the insurance company may only cover medical and
psychological therapy and may deny payment of behavioral therapy because it is
not recognized as a covered service. As a result, the patient's family cannot
afford treatment and the patient may not receive optimal therapy for his or
her symptoms. In younger patients with AD, timing of treatment is critical,
and waiting for insurance coverage may hinder the child's development.
When caregivers are concerned about
financing treatment, the pharmacist can be a valuable resource in counseling
them on the most effective ways to use their resources. Pharmacists can offer
the following advice to help caregivers strategically utilize their funds and
achieve appropriate care for the autistic child.
When visiting a specialist, caregivers should be advised to request a plan of action from the diagnostic team to identify the types of programs that will best suit their child.3 The more informed the caregiver is, the less likely he or she is to invest time and resources in programs that do not match the patient's needs. Caregivers who are seeking pharmacologic therapy for a child with severe symptoms should try to identify the behaviors that interfere most with the patient's daily functioning, to assist the physician in choosing optimal therapy.3 Providing the physician with detailed descriptions of symptoms will help avoid alterations to the patient's medication regimen.
The pharmacist can direct caregivers to information on alternative funding for services not covered through private insurance. Organizations such as the National Autism Association have programs that offer funding to parents of autistic children. Caregivers of autistic children should also be directed to their state's Developmental Disabilities Council.3 Each state has different programs available for individuals with disabilities, and more states continue to pass legislation to provide funds for the treatment of AD. Many states will waive a parent's income when determining eligibility for Medicaid programs.3 Some states also offer family reimbursement programs to assist caregivers with the cost of respite services, educational materials, and therapies. Each state's Developmental Disabilities Council can provide specific information regarding such programs. The caregiver should be aware that requests for funding are more likely to be granted at the beginning of the fiscal year, when funds have not yet been expended and/or depleted. 3
Due to the higher incidence of AD and increased news and media coverage, state and federal governments are responding with efforts to expand funding for AD research and treatment programs. On December 20, 2006, President George W. Bush signed into law the Combating Autism Act of 2006. The act authorizes research under the National Institutes of Health to address the entire scope of ASD. Furthermore, it authorizes regional Centers of Excellence for Autism Spectrum Disorder Research and Epidemiology. The act authorizes activities to increase public awareness of autism, improve the ability of health care providers to use evidence-based interventions, and increase early screening for autism. The act calls on the Interagency Autism Coordinating Committee to enhance information sharing. This committee provides a forum to facilitate the efficient and effective exchange of information about autism activities, programs, policies, and research among the federal government, several nonprofit groups, and the public.16
Autistic patients and their families face great challenges, but hope persists as public awareness and attention to the disease have increased dramatically over the past few years. With continued support from caregivers, researchers, and funding agencies, the mystery of AD may be decoded, allowing patients to receive more targeted care. Understanding the role of nonpharmacologic therapy in the treatment of autistic behaviors allows pharmacists and other health care professionals to provide optimal therapy for autistic patients.
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2. Mayo Clinic. Autism. Available at: www.mayoclinic.com/ health/autism/DS00348. Accessed May 31, 2006.
3. Powers MD, ed. Children with Autism: A Parents' Guide. Bethesda, MD: Woodbine House; 2000.
4. Kidd PM. Autism, an extreme challenge to integrative medicine. Part 2: medical management. Altern Med Rev. 2002;7:472-499.
5. Chen W, Landau S, Sham P, Fombonne E. No evidence for links between autism, MMR, and measles virus. Psychol Med. 2004;34:543-553.
6. Brambilla P, Hardan AY, di Nemi SU, et al. The functional neuroanatomy of autism. Funct Neurol. 2004;20:9-17.
7. Dirckx JH, ed. Stedman's Concise Medical Dictionary for the Health Professions. Baltimore, MD: Williams & Wilkins; 1997.
8. Beers MH, Berkow R, ed. Autism. In: The Merck Manual of Diagnosis and Therapy. 17th ed. Whitehouse Station, NJ: Merck & Co.; 1999.
9. Information from your family doctor. What you should know about autism. Am Fam Physician. 2002;66:1667-1674.
10. Johnson CP, Myers SM, the Council on Children with Disabilities. Identification and evaluation of children with autism spectrum disorders. Pediatrics. 2007;120:1183-1215.
11. Myers SM, Johnson CP, the Council on Children with Disabilities. Management of children with autism spectrum disorders. Pediatrics. 2007;120:1162-1182.
12. Sigman M, Capps L. Children with Autism: A Developmental Perspective. Cambridge, MA: Harvard University Press; 1997.
13. Ives M, Munro N. Caring for a Child with Autism: A Practical Guide for Parents. Philadelphia, PA: Jessica Kingsley Publishers; 2002.
14. Nye C, Brice A. Combined vitamin B6-magnesium treatment in autism spectrum disorder. Cochrane Database Syst Rev.2002:CD003497.
15. Dolske MC, Spollen J, McKay S, et al. A preliminary trial of ascorbic acid as supplemental therapy for autism. Prog Neuropsychopharmacol Biol Psychiatry. 1993;17:765-774.
16. S. 843--The Combating Autism Act. Available at: olpa.od.nih.gov/tracking/ 109/senate_bills/session1/s-843.asp. Accessed August 28, 2007.
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