Carol L. Rizzolo, RPA-C, and Robert L. Cerciello, MD
July 06, 2009
CLINICAL FEATURE: Clinical Advisor
Recognizing autism spectrum disorder
As recently as 10 years ago, the American Psychiatric Association estimated the prevalence of autism to be two to 20 in every 10,000 children. (1)But by 2004, a number of studies using criteria for a diagnosis of pervasive developmental disorders, also known as autism spectrum disorders (ASD), from the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision (DSM-IV-TR) noted prevalence rates of two to six per 1,000 children. Some studies from Scandinavia and Europe have cited prevalence as high as 12 per 1,000 children; prevalence in the United States has been estimated to be two to seven per 1,000 children.(2)
These sharply increased numbers have sparked concerns about what factors might underlie this increase in ASD diagnoses. One must be careful to evaluate these numbers with the full understanding that the definition of the autistic spectrum has changed dramatically over recent decades. In 1980, DSM-III included infantile autism and spelled out six criteria, all of which had to be met for a diagnosis.(3) Then in 1994, DSM-IV established the category of pervasive spectrum disorders, which includes autistic disorder and four other disorders: Asperger’s, Rett’s, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified. Diagnosis of autistic disorder requires just six of 16 criteria (see Table 1).
What is unclear is whether the increasing numbers of children diagnosed with ASD reflect a true increase in prevalence or whether the apparent increase can be explained by changes in the diagnostic criteria. Indeed, an article published in the January 2009 issue of the Journal of Epidemiology claims that in the state of California, the increase in ASD diagnoses cannot merely be attributed to the change in diagnostic criteria.(4) Authors Hertz-Picciotto and Delwiche posit a role for environmental factors as well.
Our goal is to clarify this complicated and confusing diagnosis that manifests from infancy through adolescence with varying levels of dysfunction.
Autistic disorder and Asperger’s syndrome are just two components of ASD. Patients who suffer with ASD present with difficulties in language and socialization. The challenge inherent to the diagnosis of ASD is the significant variability in the severity of dysfunction observed in individual patients. Given that language is the basis for human socialization, one wonders whether ASD is indeed a social disability with associated comorbidities.
Clinical presentations of ASD
Parents of very young infants severely affected by ASD often notice that their child does not seem to interact with or respond to the environment around him. (It is important to note that the male-to-female ratio of ASD is 4:1, so we are not displaying a gender bias in our use of the masculine pronoun. Clinicians are more likely to see a larger number of boys than girls with ASD). The parents may be aware that the child exhibits poor eye contact, a lack of demonstrated affection, or language delay; he may also seem slow to reach developmental milestones. These are the children first identified by Austrian physician Leo Kanner in 1943 as having “early infantile autism.” Historically, these are the youngsters one might think of as having the severe impairment more typical of one end of the autistic spectrum. While a diagnosis of more severe forms of ASD can seem clear-cut, the correct diagnosis of the less severe forms requires a high level of suspicion on the part of the clinician.
In 1944, Austrian physician Hans Asperger described a group of boys whose behavior seemed to represent a higher-functioning form of autism.(5) Children with Asperger’s syndrome, which occurs in males five times more commonly than in females,1 often develop quite well in the first several years of life in that they learn to care for themselves and often meet appropriate physical developmental milestones.
Like patients with other forms of ASD, those with Asperger’s syndrome have an emotional disconnect from their surroundings, but they do not uniformly exhibit speech delays. Indeed, Asperger’s patients can be precociously verbal, often sounding like small adults in their ability to speak before their first birthday. These children can, and often do, speak in a professorial way about topics of their interest and choosing. The verbal skills of Asperger’s patients can seem quite advanced to the adults around them, as the children tend to focus on one topic and learn everything they can about it. This would be considered a savant quality. To their parents and teachers, these youngsters might just seem a little quirky. The diagnosis of Asperger’s syndrome requires a high level of suspi-cion on the part of the clinician because this disorder is defined by dramatically less impairment than a diagnosis of autistic disorder.
As Asperger’s patients get older, their social impairment becomes painfully clear in their interactions with peers. Asperger’s patients tend to display an inability to read social cues and respond appropriately; this often isolates them from their peer group and leads to concomitant anxiety disorders and depression.
Popular media and parent groups have focused a great deal of attention on the immunizations administered in infancy and early childhood as possible causative factors of ASD. Children get immunizations every few months during a period when they are maturing and developing various social interactive skills. The simultaneous occurrence of those events has led to the targeting of immunizations as a cause of ASD. Despite the public media frenzy that has erupted, the medical and scientific literature has found no correlation between immunizations and ASD. As clinicians, we must be both sensitive and aware of the intense emotionality of the vaccine/autism debate, but we must also remember that no data exist to support an association.
Clinicians are often taught that 90% of diagnoses can be made from a good history. This lesson also applies to ASD. Currently, there are many different patient questionnaires on the market, each of which claims to be a diagnostic aid for any of a variety of conditions. In the case of ASD, as in all conditions, the clinician should remember that while questionnaires can be a helpful addition to the clinical tool chest, diagnoses based on lists filled out by involved individuals are not as accurate as we would like them to be. A careful history cannot be replaced by such a form.
In any evaluation, it is appropriate, indeed necessary, to ask parents (or caregivers) about the social interactions of the child, e.g., in a group with other children, would this child’s play be considered interactive or parallel? This may be easier to determine in a younger child, as socially unusual or uncomfortable children often stand out in a group. Children with ASD might be comfortable in the world of adults while feeling socially isolated by their peers. Indeed, these patients are often considered to be unusual and “weird” by their peer group. While the Asperger’s child may have a lot to say, the topic is often of interest only to him.
Virtual reality can help these children feel that they have a place to fit in, but the virtual world does not completely replace their desire for real-life friends. In the adolescent, social dysfunctionality may not be quite as obvious unless the clinician is on high alert for this symptom. Being on the lookout for “soft” signs can clue the astute clinician in to the possible presence of ASD.
Ask parents about interactive situations within the household and, if possible, how the child compares with siblings when it comes to socialization. Ask, for example if the child spends most if not all of her time in individual activities. Do friends come over? Does she go to visit others? Is she a very literal thinker? ASD youngsters are very literal thinkers, often to the point of confusion to those around them. For example, a girl has been instructed to wait outside school for her mother to pick her up. However, it has begun to rain; the mother has been delayed, and instead, the father has come to pick up his daughter. The girl is likely to be waiting outside in the rain, as she had been instructed, and to be behaviorally oppositional to her father for coming in place of her mother. A child who does not have ASD would likely have waited inside the building out of the rain and been somewhat unfazed as to who picked her up. Changes in plans can be devastating for ASD sufferers, while other youngsters are able to make the necessary accommodations required to ease their way through social interactions.
While taking down the history, the clinician can explore whether the patient has interest in group activities either inside or outside the home. Frequently, the patient has an interest in such activities, but the interactions are not socially successful. Ask if the patient makes unintended but inappropriate remarks. For example, in a face-to-face conversation, instead of saying to another person, “My, she’s a beautiful woman,” patients with ASD tend to view things in segments and thus might say in a conversation, “Wow, she has beautiful breasts!” Rather than seeing the entire woman as beautiful, they only see part of her. Such segmenting can lead to embarrassing moments and further social isolation, as would likely occur in the example presented.
Check for savant qualities. Does the patient know everything there is to know about baseball cards? Or video games? Can he quote the statistics of a particular team for the past number of years? Does one particular subject occupy a great deal of his time? Has he memorized sections of the telephone book? Or maps of a shopping complex? These savant qualities or particular interest skills occupy these patients and are preferred topics of conversation. As the patient speaks and responds to questions, note if the speech is monotone. Monotonal speech is another soft sign of ASD.
Younger ASD patients have a tendency to line up things. They have strong negative reactions to any changes to their routine and may demonstrate hand-flapping behavior or a fascination with lights or watching the toilet flush. They may memorize directions or street signs. Although some are unable to engage in conversation, they do “talk”; perhaps they can recite the alphabet or count up to 100, recognize numbers and letters, or memorize stories that have been read to them. While these children do have an impairment with regard to expressive language, they are able to memorize a pattern and express it in the spoken word. Note the distinction here between conversational speech and expressive language as compared with the ability to repeat phonetic sequences.
An adolescent with ASD can often be engaged in discussing a topic of his choosing. This can involve the subject that he is most interested in at the time, and he will be filled with information about it. If a new topic is introduced into the conversation, the ASD adolescent will likely ignore the new focus and continue speaking about the topic that interests him or he might stare blankly and cease participating in the discussion. The transition in the patient’s affect can be quite abrupt and is a clue to an abnormal style of social engagement.
In addition to a careful history, medical evaluation of the patient suspected of having ASD includes a hearing test, determination of lead levels in the blood, amino acid screening, speech and language assessment, genetic screening for fragile X syndrome, and genetic counseling for the parents.
There is no real pharmacologic treatment for ASD, and the behavorial modalities often spark controversy. ASD is a neurobehavioral condition in which certain medications may ameliorate some of the symptoms but will not be curative. Counseling and supporting the parents and teachers of patients are of great benefit. That said, the clinician can look to see what aspects of the child’s behavior are the most problematic for her and can look to treat the comorbidities that often occur, in the hopes of reducing difficulties in school and in the home.
Patients diagnosed with ASD are excluded from the DSM-IV diagnosis of attention-deficit hyperactivity disorder (ADHD). However, these patients will frequently have comorbid ADHD-like symptoms, which in some cases will respond to the current treatment modalities for ADHD. Obsessions in ASD patients can be treated with a selective serotonin reuptake inhibitor (SSRI). In consideration of the FDA black-box warning regarding the correlation between suicidal ideation and the use of SSRIs, however, clinicians must exercise extreme caution when using this class of medication. Recently, risperidone (Risperdal) has been approved for treatment of the irritability that results in significant behavioral problems associated with ASD (e.g., oppositional defiant behavior and/or aggressive behavior).(6) Side effects of this medication include significant weight gain, fatigue, tardive dyskinesia, hyperglycemia, and other significant problems. Consumption of alcoholic beverages may increase the severity of side effects. Clinicians should be sure to maintain close contact with any patient taking risperidone, and provide frequent monitoring through laboratory testing and evaluation for the myriad side effects associated with this medication.
In summary, ASD includes a wide range of social disabilities and language dysfunctions. If the clinician maintains a high level of suspicion, watching for soft signs of the disorder, the diagnosis can be made earlier in life and appropriate family and educational interventions can be put into place sooner rather than later. Supporting the family and the patient through the social challenges of living with ASD can improve the lives of these patients and their families.
Ms. Rizzolo is a former adjunct clinical assistant professor in the PA Program at Quinnipiac College, Hamden, Conn., currently working on her doctoral thesis, and Dr. Cerciello is assistant clinical professor of pediatrics and neurology at the University of Connecticut School of Medicine in Farmington.
1. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision (DSM-IV). American Psychiatric Association: Washington, D.C.; 2000.
2. Centers for Disease Control and Prevention. Autism Information Center. Frequently Asked Questions. Prevalence.
3. American Psychiatric Association. Diagnostic and Statistical Manual of Medical Disorders, Third Edition (DSM-III). American Psychiatric Association. Washington, D.C.; 1980.
4. Hertz-Picciottto I, Delwiche L. The rise in autism and the role of age at diagnosis. Epidemiology. 2009;20:84-90.
5. Asperger H. “Autistic psychopathy” in childhood (1944). In Autism and Asperger Syndrome. Translated and annotated by Frith U. Cambridge, United Kingdom: Cambridge University Press; 1991:37-92.
6. McCracken JT, McGough J, Shah B, et al. Risperidone in children with autism and serious behavioral problems. N Engl J Med. 2002;347:314-321.
All electronic documents accessed June 10, 2009.
From the July 2009 Issue of Clinical Advisor »