MANILA, Philippines - When asked to make a choice, five-year-old Bertie will likely repeat the last option he just heard or when addressed, would repeat the last word or phrase of the sentence he just heard. If asked, “milk or orange juice?” he would select juice whether or not he really wanted milk. In clinical terms, he was exhibiting “echolalia,” echoing the last sound that he heard. At the local playground, Bertie will be seen running back and forth, round and round, up and down the play equipment, jump into the sandbox, dig hard and repeatedly at the sand, maybe even throw some sand at the kid in front of him. Call him by his name, and he will not always answer, although he is not hard-of-hearing. Later, when he had started school, he wouldn’t/couldn’t tell you how the school day went. At school, it is the same thing he won’t/can’t tell the teacher stories such as what he did over the weekend. He cannot engage in any meaningful conversation. He also does not like to be hugged too much. He seems satisfied being by himself, playing with his toy cars, lining them up in rows or making them form a circle. Often disruptive, impaired in his communications, and seeming to be obsessively focused on a few specific favorite things, Bertie exemplifies the larger proportion of children who are considered moderately to severely impaired as a function of the condition known as autism.
Autism is a complex behavioral syndrome that first manifests during early childhood, usually between the ages of one and four years old. There are no reliable estimates of the worldwide prevalence of autism. What is generally recognized is that the numbers of children with autism have dramatically increased worldwide, accounted for mostly by improvements in the ability of clinicians to identify the relevant symptoms. In the United States, the prevalence of autism is estimated today at one out of every 110 children, with the ratio higher for males. In the Philippines, recent estimates indicate that there are about 1,000,000 Filipinos who fall in the broad category of autistic spectrum disorders. Interestingly, hearing about the presence of a child, adolescent or adult among one’s circle of family and friends has become not unusual at all.
What causes autism?
The primary role of genetic factors has been identified in numerous controlled scientific studies. These findings have reinforced the complex nature of autism as it appears that the responsible genes are multiple, act together, and do so in different combinations and brain pathways. The evidence has come from laboratory studies, often of brains of deceased persons with autism, and from genetic epidemiology studies which found a very high concordance of autism in monozygotic twins and to a lesser degree, among siblings. Genetics do not explain fully the etiology of autism, however. Environmental factors occurring during the prenatal or perinatal period also play a role. The highly suspected factors are toxic exposures or infections. The suggestion made many years ago by a single investigator from Great Britain that immunization with the measles-mumps-rubella vaccine is the cause of autism has been roundly disconfirmed by many, including Lancet, the British journal that published the report.
Another early hypothesis is that of the “refrigerator mother” who caused the autistic behaviors because of her inability to show affection to her child. This theory was proposed in the 1960s and 1970s by Bruno Bettelheim, an Austrian-born American child psychologist, but has not been supported by controlled studies and as a result, has also been debunked.
What are the symptoms?
According to the diagnostic manual of the American Psychiatric Association, the condition is manifested in different forms which are labeled autistic disorder (the most common form), Asperger Syndrome (associated with higher functioning and less impairment), and pervasive developmental disorder (a kind of catch-all term). Thus, the short-hand label for the condition is Autistic Spectrum Disorder (ASD). While the various forms of autism have their distinctive behavioral signs, there is a commonality of deficits in social interaction; limited language, communication, and imaginative play; and narrow range of interests and activities.
The symptoms of autism can change over time within the same individual. Many behavioral signs evident during early childhood will disappear only to reappear once again in later years. A large number of the symptoms are maladaptive they interfere with the person’s day-to-day functioning and ability to learn, and can be injurious to self and others. Some symptoms of autism can be confused with symptoms of other conditions. For example, uncooperative and unresponsive behaviors could be misdiagnosed as Oppositional Disorder. Restlessness and distractibility can be mistaken for Attention Deficit Hyperactivity Disorder (ADHD), which is another impairment that is also first manifested during the early childhood years. Although there are persons with ASD who function at a normal or high intellectual level, most persons with autism will have limited intellectual capacities, and can be diagnosed simply as mentally retarded. Such co-occurrence or comorbidity with other conditions has its pitfall in the resulting failure to apply interventions that are the most appropriate for treating the symptoms of autism.
What IS the course of autism?
Autism is a lifelong disorder. Early intervention, occurring as early as the first two years of life, has been shown to improve language and socialization, but continued intervention and education throughout the course of the individual’s life is beneficial. Behavioral therapies can also help to reduce manifestations of disruptive or self-injurious behaviors that can result in future problems or impairments. However, the long-term maintenance effects of any single behavioral therapeutic approach remains to be known.
The main burden of caring for persons with autism typically falls on the family. These burdens are thought to be greater than for any other developmental disorder, making the availability of medical, educational, and social support from outside the family very important. Knowledge about how best to provide those needs and how to help these persons fulfill their fullest potential is still at a rudimentary stage. Essential to acquiring this knowledge is information about how persons with ASD experience their world and learn. This goal is a frequent challenge since an integral impairment of autism is the inability to communicate. Thus, long-term studies and observations of persons with autism are needed to produce realistic and productive treatment approaches. The latter, in turn, need to be tested and, as needed, further refined.
Behavioral & medical treatments
Some evidence exist supporting the efficacy of early and intensive behavioral and developmental intervention, including intensive approaches (provided >30 hours per week) and comprehensive approaches (addressing numerous areas of functioning). These include a UCLA/Lovaas-focused approach for school-aged children and the Early Stage Denver Model (ESDM) for children aged 12 to 18 months. These approaches have been associated with greater improvements in cognitive performance, language skills, and adaptive behavior skills compared with broadly defined eclectic treatments. Although favorable outcomes from these approaches have been reported, the observed strength of the available evidence is low; more replications of these interventions studies and understanding of how and why they work need to be done. Evidence is insufficient to support the use of sensory or auditory integration, a high-cost procedure popularized during the 1990s as a form of speech and language interventions.
Behavioral interventions employ multiple components. Thus, some children may display improvement in some areas but still continue to display impairment in some areas. Not all children receiving such interventions demonstrate the expected gains, and whether the successes observed in the behavioral approaches will replicate convincingly in other communities, across different cultures, and under different environmental circumstances also remain to be demonstrated. The effect of these behavioral approaches with older children also has yet to be demonstrated. Thus, a critical area for further research is identifying which children are likely to benefit from particular interventions.
A few medications have been tested for ameliorating the impairments associated with ASD. Thus far, approval by the Federal Drug Administration of the US government has been given to only two compounds. Based on clinical trial data, there is positive evidence for using risperidone (Risperdal) and aripiprazole (Abilify) for improving behaviors such as aggression, irritability, and repetitive behaviors. Significant side effects from these medications have been seen, however. These include medical signs such as increases in weight, heart rate and blood pressure. Certain rare adverse effects that can be highly problematic have also been discussed in published case reports. For example, uncontrollable, increased sexual libido as a side effect of aripiprazole has been reported in a number of case histories. As in other areas of pharmacology, simultaneous use of these medications with treatments for comorbid conditions can produce undesirable side effects. For example, combining aripiprazole with clonidine, an effective treatment for impulsive and hyperactive behaviors, has been observed to cause intense aggression in trials of children and adolescents. A few other medical interventions show some promise for future research. These include serotonin reuptake inhibitors (SRIs) which are widely used for treating depression and methylphenidate, an established treatment for attention deficit and impulsivity.
In sum, there has been much increased awareness regarding autism as a debilitating human condition, but information regarding effective treatments is lacking. To provide more efficacious interventions, more knowledge acquired through the combined strengths of various research methods is needed regarding the genetic, neurobiological, psychological, and environmental risk factors for autism. The nature of autism as a complex, wide spectrum condition requires this deep knowledge and individualized approach.
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The author is a parent of an adult with autism. She is a professor of Clinical Psychology in Psychiatry at the Columbia University Medical Center in New York, NY, USA; founder and current president of the Association for Adults with Autism, Philippines (AAAP). Inquiries regarding AAAP and A Special Place, the residential program, should be addressed to Lirio S. Covey, Ph.D. e-mail liriocovey@gmail.com, or Catherine Cham, e-mail cathycham_cci@yahoo.com.