Public awareness about autism has increased nowadays with the prevalence of information coming from different media sources and an expanding knowledge based from scientific research and literature. It afflicts approximately 6 out of 1,000 children and similar to other neurodevelopmental disabilities, not ‘curable.’ Thus children diagnosed with autism would need chronic management throughout their lives.
Autism is a group of development brain disorders now presented as Autism Spectrum Disorders or ASD. The term spectrum denotes a wide range of symptoms, skills and levels of impairment or disability a child with ASD can have. The Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition – Text Revision (DSM-IV-TR) defines Autistic Disorder or Classic Autism, Rett’s Disorder, Childhood Disintegrative Disorder, Asperger’s Disorder and Pervasive Development Disorder- Not Otherwise Specified (PDD-NOS) under 299.00 or Pervasive Development Disorder.
History
Autism is derived from the Greek word, “autos” which means self. According to Hirai (1968), the German word “Autismus” was first used by Bleuler (1911) to refer to the mental state of human beings based on the ‘autos.’ Autismus was to describe a mental state that has is characterized by minimal contacts or lost relationship with the external world, withdrawal into the internal world and separation from reality because the patient’s preoccupation with his internal world.
Leo Kanner in 1943 published “Autistic Disturbances of Affective Contact.” a clinical case study that used the term ‘autism’ for a clinical group of children manifesting symptoms that are parallel to today’s diagnosis.
The new millennium has brought forth more insights and knowledge about ASD. It is known as a biologically based neurodevelopmental disorder, but the exact cause is still not known up to now. It has been a difficult challenge due to the genetic complexity and phenotypic variation. It is also believed that environmental factors also have an effect in the phenotypic expression.
Symptoms
There are no exactly similar symptoms of ASD from child to child. As it falls in a spectrum, manifestations vary with time and severity. The hallmark feature of ASD is a child’s impaired social interaction, communication difficulties and repetitive and stereotyped behavior . Even in infancy, a baby with ASD will not follow the typical patterns of social development and/or communication skills. It might also be possible for an infant to develop normally then withdraw or be indifferent from external stimulus.
Social Impairment
Most children with ASD have trouble with everyday interactions. They become focused on a single object, seldom make eye contact and fail to respond to social cues. They have a difficulty in understanding the behavior of another person as they do not have comprehension to perceive body language or the tone of voice. They fail to respond to the emotional signs because they do not pay attention to small details that others typically take into consideration.
In the same way, adults and other children also experience difficulty in understanding the social cues of a child with ASD. Their expression, movements and gestures are unclear or ambiguous. Their facial expressions and tone of voice usually are not reflective of their feelings and they usually have a robot-like, flat or sing-song tone of voice.
Communication Issues
Children with ASD may fail to respond to verbal cues or develop gestures that can be normally seen in their age. Communications is extremely challenging as they do not react to verbal attempts and find it difficult to have a back and forth conversation. They usually speak in single words or repeat phrases over and over. They also do not develop meaningful gestures that a child usually employs to communicate. As a result they sometimes scream or act out in their attempt to express their needs.
Repetitive and Stereotyped Behavior
Children with ASD usually have repetitive motions. These are sometimes called stereotyped behavior. These repetitive actions can also be in the form of a persistent and intense preoccupation. Some children may insist on doing the same exact routine everyday and a slight change from this routine can cause emotional outbursts . Children with ASD have the inability to readily cope with a new or different environment.
Etiology
It has been established that ASD are biologically based neurodevelopmental disorder and are highly heritable. However, finding its cause still remains a mystery because it involves multiple genes and demonstrates great phenotypic variation. Researchers have identified several genes connected to the disorder but they are still to determine the specific genetic factors associated with the development of ASD. There are studies that attempt to gauge the recurrence within families. There is an approximately a 5 to 6% chance of recurrence if an older sibling has ASD and higher percentages if there are 2 children with ASD in the family. There is also evidence that suggest that families with emotional disorders like bipolar disorder have a higher chance of having an offspring with ASD. However, researchers are still looking for the genes that contribute to increased susceptibility.
There are some studies that believe that although genetic in nature, the environmental factors also play a large role in phenotypic expression. Advanced ages of the parents show an increased risk of having children with ASD. This might be caused by de novo spontaneous mutations and/or alterations in genetic imprinting. Environmental stimulants might be an agent that can disturb the development of the embryo in early gestational life. Several studies have found irregularities in several regions of the brain or have abnormal level of serotonin or other neurotransmitters. These discoveries suggest that ASD could result from the disrupted normal brain development of the fetus in the womb. However, these studies are still in the preliminary stages and require further studies.
Treatment
Autism Spectrum Disorder are generally not curable, thus chronic management of the patient during his lifetime is required. As was stated, the manifestations of the symptoms and degree of severity vary from each child to the next and may change over time. However, these children would still remain in the spectrum as adults and thus, would continue to experience difficulty in independent living, gaining employment, having social relationships and good mental health. The primary goals of treatment therefore, are to minimize the core features and associated deficits, gain functional independence, improve quality of life and reduce family distress.
Educational Intervention
Early intervention is the key. The American Academy of Pediatrics has emphasized the importance of surveillance and screening of potential ASD patients during the first few years of child development. Research has shown that intervention through intensive behavioral therapy during the toddler or preschool years can significantly improve cognitive and language skills in children with ASD. There is no one treatment procedure for these children but it is anchored on specific educational interventions that addresses communication, social skills, daily-living skills, play and leisure skills, academic achievement and maladaptive behaviors . It is crucial to start intervention as soon as the child has been diagnosed with ASD. A comprehensive educational program for these young children would include intensive intervention by providing focused and challenging learning activities suitable to their developmental level. The child should be in active engagement of at least 25 hours per week and 12 months per year. They should be in a small learning group that will allow 1 on 1 time with the therapist and a sufficient personal instruction to meet the child’s individualized goals.
It is also important to have a family component is also needed. Family members should also receive training as necessary. The family members will be instrumental in maintaining the progress a child makes by continuing the structure and routine at home.
Pharmacologic Interventions
There are some medications that may be considered to reduce symptoms in a child with ASD like aggression, self-injurious behavior, sleep disturbance, mood lability, irritability, anxiety and other disruptive behaviors. Risperidone is the first medication approved by the Food and Drug Administration. It is for the symptomatic treatment of irritability that can include aggression, deliberate self-injury and temper tantrums. However, two large controlled trials have confirmed the short term efficacy of risperidone in youth with ASD. Potential side effects include excessive appetite and weight gain, insulin resistance, dyslipidemia, hyperprolactemia, extrapyramidal symptoms, tardive dyskinesia, neuroleptic malignant syndrome, QTc prolongation, dry mouth, urinary retention, constipation, seizures, hematologic abnormalities and sedation .
Methylphenidate is effective in some children with ASD but it has a lower response rate than that of children with attention-deficit/hyperactivity disorder. The potential adverse effects are appetite reduction, inhibition of growth, delayed sleep onset, jitteriness, exacerbation of tics, abdominal discomfort, increased blood pressure, increased heart rate, irritability, increased anxiety and repetitive behaviors .
It is an imperative that, should these pharmacological interventions be used, pediatricians and other practitioners be fully aware of the potential benefits and adverse effects. They should have a sufficient working knowledge of the drug including the indications, contraindications and how they would react to other drugs taken by the patient. These benefits and side effects should be fully explained to the parents and informed consent should be obtained. It is also important to have a quantifiable record in assessing the efficacy of the medication.
Conclusion
Autism Spectrum Disorder is a now a prevalent condition affecting children. Its’ increased incidence has produced a larger need for information and in response a wealth of information has been made readily available for medical practitioners, parents and family members. However, like most other neurological disorders, it is genetic and inheritable. Although there are several researches done and still being conducted, scientists are still far from finding a cause and hopefully a cure. In the mean time, treatments to combat or reduced the symptoms are through educational and pharmacologic interventions. It is still possible to equip patients with skills that will improve their quality of life as children and eventually adults. It would still be a long journey towards a cure but we have already made the all-important first step.
References
American Psychiatric Association. (2000). Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision. Washington, DC: American Psychiatric Association.
Bleuler, E. (1911). Demetia praecox or The group of schizoprenia. Leipzig und Wein: Franz Deuticke.
Hirai, N. (1968). Childhood Autism. Tokyo: Nihon-Shoni-Iji (in Japanese).
Johnson, C. P., & Myers, S. M. (2007). Identification and Evaluation of Children With Autism Spectrum Disorders. Pediatrics: Official Journal of the American Academy of Pediatrics , 1183-1215.
Kanner, L. (1943). Autistic disturbances of affective contact. Nervous Child , 217-250.
Kita, Y., & Hosokawa, T. (2011). History of Autism Spectrum Disorders. Retrieved from tohoku.ac.jp: http://www.sed.tohoku.ac.jp/library/nenpo/contents/59-2/59-2-09.pdf
Myers, S. M., & Johnson, C. P. (2007). Management of Children With Autism Spectrum Disorders. Pediatrics: Official Journal of the American Academy of Pediatrics , 1162-1182.
National Institute for Mental Health. (2011). A Parent's Guide to Autism Spectrum Disorder. Retrieved March 19, 2013, from National Institure for Mental Health: http://www.nimh.nih.gov
National Institute of Neurological Disorders and Stroke. (2013, February 4). Autism Fact Sheet. Retrieved March 19, 2013, from National Institutes of Health: http://www.ninds.nih.gov/disorders/autism/detail_autism.htm
