Increasing rates of autism diagnosis; A nurse's role

Sara Salamonsen
Over the last decade, diagnosis of autism has greatly increased. This has concerned the scientific and medical communities, leading to many research studies to determine not only the cause of the condition itself, but also to determine the reason for the sudden increase in its diagnosis. These findings range from biological causes such as multiple gene involvement or environmental exposure, to education of physicians and other practitioners who may not have the knowledge of and accessibility to screening and diagnostic criteria. With this increase in diagnosis, pediatric and family practitioners need to be knowledgeable and informed of the potential causes, signs, symptoms, and subsequent interventions for autism and other Autistic Spectral Disorders (ASD).
What is an ASD? The term Autistic Spectral Disorder encompasses a wide variety of neurobehavioral and cognitive disorders. The nurse’s first strategy for caring for these children is recognition of signs and symptoms of ASD. Some of the cardinal signs include difficulties with socialization, impairment of verbal and non-verbal communication, and repetitive and restricted behavioral patterns. Autism is the second most common disorder of childhood, estimated to occur in one in 166 to 500 children (CDC, 2000). Despite its prevalence, it often is not diagnosed until the child reaches school age (Filipek, Accardo, Ashwal, Baranek, et al. 2000). A recent study found that the average age for a child to be diagnosed with autism was six years old, though parents usually had concerns starting around 18 months. These parents most often sought medical care by age two (Howlin, Moore, 1997). At initial presentation, fewer than ten percent of patients were diagnosed with autism. In a study of nearly 2000 pediatricians, 71% stated that they believed that the most significant reason for delayed diagnosis of ASDs was that diagnostic criteria and treatment has changed in the last decade (Dosreis, et al. 2006).
Among the barriers to ASD diagnosis that practitioners encounter is that parents may not recognize or acknowledge when developmental and behavioral milestones have not been reached. The belief that every child develops at a slightly different rate and may “grow out of” behavioral delays often hinders an early diagnosis. Educating parents regarding signs and symptoms of ASD can assist them in recognizing abnormal behaviors and missed developmental milestones, thus aiding in early diagnosis and initiation of treatment. It was found that approximately ten percent of patients’ parents were told “not to worry” or that their child would “grow out of” these behaviors by their practitioner upon initial evaluation (Howlin, 1997). This desire to not make a premature diagnosis can delay subsequent timely interventions.
A child’s first three years are very important in their physical and cognitive development. During early childhood, frequent routine wellness checks are scheduled. These visits allow for physicians and nurses to regularly evaluate a child’s physical, emotional, and communication development. Pediatric practitioners must be familiar with regular developmental milestones and be able to recognize when there is a deviation from the normal range of development. Some serious variations that warrant medical investigation include displaying no big smiles or joyful expressions by six months; no verbal back and forth interaction or sharing of smiles by nine months; no gesture exchanges (such as pointing, reaching, waving) by 12 months; no words by 16 months; no use of two-word meaningful phrases by 24 months; or any loss or change of speech or social skills at any age (Filipeck, et al. 2000). Recognizing such problems can assist the practitioner in beginning interventions for the child as soon as possible.
The pediatric nurse must be able to recognize the need for and understand the various forms of diagnostic and testing procedures for the child suspected to have an autistic disorder. The nurse must ensure that proper avenues are taken for accurate diagnoses. This often means becoming familiar with varying diagnostic methods. Testing for developmental delays or ASDs can be easily integrated into the child’s regular wellness checks. Depending on the patient’s age and severity of symptoms, these vary from formal testing to providing history and correlations with behavior. Upon initial presentation for concerns of autistic behavior, approximately 40% of patients were referred to a specialty provider, however less than half of those patients were given a formal diagnosis at that time. These patients were often referred to a third or fourth specialist prior to the assignment of a diagnosis of ASD. This process can cause financial and emotional stress on both patient and family, as insurance companies often will not cover or require extensive documentation for reimbursement for diagnosis and treatment of developmental disorders (Howlin, 1997).
The exact cause of autism is not known. There are many environmental factors, biological predispositions and disorders that research has associated with ASDs. Some of the environmental concerns include exposure to heavy metals such as lead and mercury. Some of the disorders associated with increased rates of autism include the rare genetic conditions involving a variant of the MET gene such as Rett’s Disorder and Fragile X (Carmichael, 2006). The MET gene is involved in brain development. Researchers have begun to widen the scope of research in ASD study, and have identified hundreds of different factors that can be associated to various aspects of autistic spectral disorders (Carmichael, 2006).

Diagnosis of ASDs is usually started in a child’s pediatrician or general practitioner’s office when children present for well-child visits. If there is a concern raised by the parent or any observation made by the physician or nurse, a written developmental delay data sheet can be filled out. This usually takes no more than ten minutes, and can often be requested before and completed by the caregiver prior to the visit. This form may also be filled out in the office with or without the assistance of the nurse. If the developmental delay data form reveals any cause for concern, the child is referred to an autism specialist, often a Pediatric Neurologist, child Psychologist, child Psychiatrist or Developmental Pediatrician (Filipeck, et al. 2000).
The most significant role of a nurse in autism recognition and diagnosis is education. The nurse, the family, and the patient (within developmental and age-appropriate levels) must all be educated on various aspects of autism and autistic disorders. Important areas for the nurse to include are symptoms, treatment options, expected and potential outcomes, available support resources, and his or her own willingness to listen and be supportive. Much of this education is done within the primary care or specialty care clinical setting. One study found that only ten percent of parents had their child’s condition explained to them (Howlin, 1997) in a clinical setting. Because so few families are being adequately informed, the nurse’s role as an educator becomes much more integral to positive patient outcomes.
The increase in diagnosis of autism places nurses at a critical juncture, where nurses must be increasingly knowledgeable, understanding and supportive of the parents and children afflicted with this condition. The nurse’s level of understanding of autistic spectral disorders can have a great impact on the patient outcome. The nurse must be able to provide assistance with personalized education plans and referrals to support services and specialty medical providers (such as developmental or pediatric neurologists, speech and auditory therapists, and counseling services) in addition to being available and open to the parents or caregivers of these children. Being readily available and knowledgeable as an educator and advocate is often the most important role that the nurse can play in the care and treatment of a patient with an autistic disorder.
A. Intervention 1: Increasing parental knowledge of signs and symptoms of ASD
i. Disadvantage 1: Knowledge deficit
Because the exact cause of autism is unknown, there is a lot of speculation and misinformation available to the public. Due to the recent increased media and medical attention that ASDs have received, there is an increase in the number of parents who seek formal screening for their children. This is in contrast to the relatively low rate for screenings of other developmental delays. A study conducted in 2004 by the state of Pennsylvania found that certain cardinal behaviors of ASD can lead to earlier recognition and diagnosis of the disorder. “Children with severe language deficits, hand flapping, toe walking and sustained odd play received a diagnosis earlier… Physicians may be more familiar with these symptoms from portrayals of ASD in the popular media, or they may be more disturbing to parents and physicians alike, prompting additional evaluation” (Mandell, et al., 2005). If parents are unable to recognize these signs and symptoms as problematic, they are unable to report them to a physician or seek medical attention for them.
ii. Disadvantage 2: Socioeconomic status/Inadequate insurance
Many factors affect potential delays in diagnosis or possibility for missed diagnosis. Several familial-based causes are considered. Socioecomonic status was evaluated in relationship with ethnic background. “In a Study of Medicaid-eligible children, black children with ASD received a diagnosis an average of 1.5 years later than white children… Research suggests that differences by ethnicity may be associated with poverty, differences in clinical presentation, difference in parental behaviors, and differential treatment by physicians” (Mandell, et al., 2005). For these reasons it is extremely important to provide care with using culturally-appropriate care. The providers must understand the differences in cultural beliefs and practices and provide care and teaching cooperatively to ensure that efficient and age-appropriate interventions are made.

B. Intervention 2: Increasing professional training and knowledge of ASD, s/s, treatment of disorder
i. Disadvantage 1: Knowledge deficit
The most highly reported reasons for primary care providers to not screen for autistic spectral disorders are lack of familiarity with tools and a basic lack of time during office appointments. “Most pediatricians (71%) believe that ASD incidence has increased, and nearly all attributed this to changes in diagnostic criteria and treatment. Service system limitations must be overcome to increase awareness and familiarity with screening tools, provide sufficient time and resources, improve screening, and enhance provider education” (Dosreis, et al., 2006). Another survey found that “many physicians have limited knowledge of the presentation, prognosis and treatment of ASD or other developmental disorders with polymorphous phenotypes” (Mandell, et al., 2005).
ii. Disadvantage 2: Inadequate insurance (reimbursement) / Inadequate resources
Not using formal and/or standardized evaluation tools and techniques can also cause discrepancy in evaluations and accuracy or reporting. In a survey conducted in 2002 by the American Academy of Pediatrics, it was found that, “only half of responders used formal developmental screening tools during routine preventative care visits with 2-year-old children, with approximately two thirds indicating that they did not have adequate time to screen patients and 90% indicating that reimbursement for such services was insufficient” (Dosreis, et al., 2006).

References:
Boyle, C.A., Decoufle, P., Yeargin-Allsopp, M. (1994). Prevalence and health impact of developmental disabilities in US children. Pediatrics. 9, 399-403.
Carmichael, M. (2006). A terrible mystery; new clues and new questions in the hunt for a cause (autism). Newsweek (Nov 27, 2006), p 52.
Centers for Disease Control and Prevention (CDC). (April 2000). Prevalence of Autism in Brick Township, New Jersey, 1998 Community Report
Dosreis, S., Weiner, C.L., Johnson, L., Newshaffer, C.J. (2006). Autism spectrum screening and management practices among general pediatric providers. Journal of Developmental & Behavioral Pediatrics 27.2 (April 2006).
Filipek, P.A., Accardo, P.J., Baranek, G.T, et al. (1999). The screening and diagnosis of autistic spectrum disorders. Journal of Autism Developmental Disorders 1999; 29: 437-482.
Howlin, P., Moore, A. (1997). Diagnosis of autism. A survey of over 1200 patients in the UK. Autism 1997; 1:135-162
Mandell, D.S., Noyak, M.M., Zubritsky, C.D. (2005). Factors associated with age of diagnosis among children with autism spectrum disorders. Pediatrics 2005; 116.6: 1480-1487.