Is my child autistic? Helping parents understand a difficult diagnosis

Despite extensive research on the condition and suspicions of a strong genetic link, the exact etiology of autism is unknown.4 Researchers have determined that autism is a neurodevelopmental disorder caused by abnormalities in the structure or function of the brain.6 Some reproducible evidence shows that neuropathologic findings may begin in utero and are caused by prenatal factors, genetics, and environmental factors.4

An association between some events during pregnancy and delivery and autism has been consistently seen. Uterine bleeding during the second or third trimester, rhesus incompatibility, induction of labor or prolonged labor, and neonatal factors such as hyperbilirubinemia and oxygen requirement at birth are complications that have a significantly higher correlation to children with autism compared to the general population.7 Data also suggest advanced maternal and paternal age are associated with the risk of autism. The incidence of autism in children born to parents older than 35 years ranges from 4% to 13%.8

ASDs are highly heritable. The average recurrence rate in families with one child with autism is 5% to 6%.9 If two children in a family have an ASD, the recurrence rate can be as high as 25%.9 This information must be explained to parents who may plan to have another child.9 The higher prevalence of autism in males further supports the role of genetics. Neurogenetic syndromes associated with autism include tuberous sclerosis, fragile X syndrome, phenylketonuria, Angelman's syndrome, Rett syndrome, and Smith- Lemli-Opitz syndrome.4,9

Although much evidence supports the theory that genetics play a large role in the etiology of autism, the influence of environmental factors also may result in the expression of multiple genes related to autism.4,9 Exposure to teratogens such as valproic acid (Depakene, Depakote) and thalidomide (Thalomid) and maternal illness such as rubella during the prenatal period are all thought to be environmental factors that can cause autism.10,11 Postnatal administration of the measlesmumps- rubella vaccine and mercury-containing vaccines have been extensively researched in recent years. In 2001, the Institute of Medicine (IOM) reviewed several epidemiologic studies that investigated the possibility of a connection between the vaccines and the prevalence of autism and concluded that the evidence did not support that hypothesis.12,13 The IOM has since determined that no association exists between the prevalence of autism and mercury-containing vaccines.13

MAKING THE DIAGNOSIS

The diagnosis of autism is based on the definition in the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision (DSM-IV-TR).14 As seen in many cases, the behavior of a child with autism will vary in different settings. If the disorder is suspected, an evaluation should be performed by a multidisciplinary team of professionals. In addition to the child's parents, the diagnostic team may include, but not be limited to, a pediatrician, a speech language pathologist, a child psychologist, a social worker, and a pediatric occupational therapist.4 Open and ongoing communication among the members of this team is important. The PA or primary care physician can function as coordinator for both the initial evaluation and subsequent treatment for the autistic child.

As clinicians, an important role for the PA is to recognize the presence of ASD early. The American Academy of Pediatrics (AAP) recommends performing developmental surveillance at each preventive-care visit throughout childhood. This surveillance includes identifying any risk factors, formulating a developmental history, addressing the parents' concerns, making detailed and informed observations of the child, and accurately documenting the process and all findings.15 The AAP also recommends using a developmental screening tool at the 9-, 18-, 24-, and 30-month visits for every child, regardless of any risk factors or parental concerns.15 Two screening tools available to clinicians at no cost are the Checklist for Autism in Toddlers (www.autismresearchcentre.com/tests/chat_test.asp) and the Modified Checklist for Autism in Toddlers (www. dbpeds.org/media/mchat.pdf).4 Clinical surveillance includes a family history to check for siblings or other relatives who may have an ASD diagnosis and asking the parents open-ended questions about any concerns they may have regarding their child's behavior and development, age-specific developmental milestones, and age-specific interactions between the parents and the child.4 The American Academy of Neurology and Child Neurology Society identified a loss of language or social skills at any age; not pointing, babbling, or making other gestures by age 12 months; not speaking in single words by age 16 months; and not speaking two-word spontaneous phrases by age 24 months as indications for immediate evaluation.16 One important point the clinician and/or parents must keep in mind: if they still have a concern after a negative screening result, the child should be scheduled for a targeted clinic visit to address the concerns.4 If a child has two or more risk factors or has a positive screening result, referrals for a comprehensive ASD evaluation; an audiologic evaluation, regardless of whether or not the neonatal audiologic screening result was normal; and early childhood education services are needed.4 Early intervention is beneficial, so not taking a wait-and-see approach is important.4

SYMPTOMS

Autism does not have a trademark symptom, and severity varies significantly among children with ASDs. Speech delays, although more subtle than social deficits, are the symptoms that usually prompt parents to seek attention from their child's primary care provider.4 Table 1 lists some traits exhibited by children with autism.6

Recent studies indicate that at least 20% of children with autism show regression, defined as having mostly normal development followed by a loss of social and communication skills.17 Attributing regression to environmental changes may be tempting, but this is a hallmark of ASDs and should always prompt the clinician to investigate further in order to prevent a delay in treatment.4

TREATMENT

Autism symptoms may lessen as children get older and receive treatment.6 Research indicates that earlier diagnosis and initiation of specialized intervention results in better outcomes.4,6 Autism has no cure; however, treatment and educational approaches may reduce some of the associated challenges of autism by teaching self-help skills that will allow the patient to be more independent.6

Treatment plans must be tailored to the individual child's strengths and weaknesses; treatment is never the same for any two patients. A timely evaluation followed by a referral to an early intervention program for children with special needs and developmental delays needs to be made as soon as a developmental delay or a risk for a developmental disorder is suspected.4 After a child reaches age 3 years, the referral needs to be made to the school system's special education department.4

Behavioral approaches should focus on the child's interests and include highly structured activities and schedules.1 Some children may require pharmacologic interventions to address certain behaviors such as self injury and aggression, repetitive behaviors, irritability, tantrums, difficulty with transitions, and some aspects of language and social interaction.18 Psychotropic medications most commonly used are serotonin-reuptake inhibitors, atypical antipsychotic agents, stimulants, and alpha2-adrenergic agonist antihypertensive agents.18

Prognosis is one of the most common concerns parents have after autism is diagnosed in their child. This cannot be predicted early in childhood.4 Recent studies show that most children with autism retain the diagnosis at age 9 years.19 Many children do improve, but only a minority have normal intelligence and can function well in mainstream classrooms without an aid.19 The few children who do have optimum improvement usually still show signs of social awkwardness.19 The poorest outcomes are associated with a lack of functional speech by age 5 years, seizures, comorbid medical or psychiatric disorders, mental retardation, and severe autistic symptoms.4

IMPACT ON FAMILY AND LIFESTYLE

The difficulties of living with autism are experienced by the patient, but the family will have difficulties as well. When taking a child with autism out into the community, people may stare, make comments, and/or fail to understand any behavioral mishaps that may occur. These mishaps can become an uncomfortable situation for the parents.6 Some of the behaviors and personality traits associated with autism may prevent the child from participating in community activities with typically developing peers; the child is often left out, bullied, and ignored.4 Until the Individuals With Disabilities Education Act was passed in 1990, autism was not a diagnosis for which children could receive special education services.4,20 Now children with autism are eligible to participate in a learning environment specific to their needs. Educational programs help the student prepare and plan for life after high school, such as further education or employment.6

Family members also need support, guidance, and, sometimes, access to additional services. Natural supports include extended family members, friends, church groups, and neighbors who can provide emotional support to the family.18 The family with an autistic child should also be introduced to social networks of other families with autistic children.18 Federally funded formal support services include vocational and residential living services, Medicaid, inhome and community-based waiver services, supplemental security income benefits, and other financial subsidies, depending on the state or region in which the child and family live.18

CURRENT RESEARCH

All aspects of autism disorder are not clear, and intense research on how the pieces of this puzzle fit together is ongoing. A major focus of research is on neuropathology, including studying neuroimages of people with ASDs.4 A growing body of evidence is showing that persons with ASDs have significant differences in brain growth and organization compared to persons who do not have ASDs.4 However, a limited availability of brain tissue limits neuropathologic studies. The Autism Tissue Program (ATP) was established to educate families, health care providers, and the general public about brain tissue donation and to help researchers collect brain tissue.4,21 Ongoing research projects supported by the ATP focus on the structure of both individual brain cells and the brain as a whole, environmental contributing factors, epigenetics, genes and proteins, glial cells, growth and development factors, and neurochemistry and synaptic processes.21 In addition, several tools for screening children under 18 months are being developed.4

CONCLUSION

Autism is becoming increasingly more prevalent, and medical professionals must be able to competently manage this disorder. PAs must be able to recognize the subtle, early signs and risk factors such as speech delays, social deficits, and odd or repetitive behavior. Parents, pediatricians, speech language pathologists, child psychologists, social workers, and pediatric occupational therapists are a few of the people who, when utilized appropriately, can help make a quick and accurate diagnosis. Early intervention including special education services, referrals to other medical professionals, and possibly pharmacologic treatment provide the best outcome for the child. Family members of autistic children need emotional and financial support as well. Many organizations are available to help patients and families cope with the inevitable stressful events (see Table 2). Ongoing research is searching for answers to the unknown aspects of autism in the hopes of providing better lives for those affected by this disorder. JAAPA

Ashley Leach practices at Dermatology of Southeastern Ohio, in Zanesville, Ohio. Miranda Collins is clinical coordinator in the PA program, Marietta College, Marietta, Ohio. The authors have indicated no relationships to disclose relating to the content of this article.

REFERENCES

1. National Institutes of Mental Health, US Department of Health and Human Services. Autism Spectrum Disorders: Pervasive Developmental Disorders. Bethesda, MD: National Institutes of Health; 2004. Reprinted 2008. NIH publication 08-5511. http://www.nimh.nih.gov/health/ publications/autism/nimhautismspectrum.pdf. Accessed December 8, 2008.

2. Autism and Developmental Disabilities Monitoring Network Surveillance Year 2000 Principal Investigators; Centers for Disease Control and Prevention. Prevalence of autism spectrum disorders—autism and developmental disabilities monitoring network, six sites, United States, 2000. MMWR Surveill Summ. 2007;56(1):1-11.

3. Autism and Developmental Disabilities Monitoring Network Surveillance Year 2002 Principal Investigators; Centers for Disease Control and Prevention. Prevalence of autism spectrum disorders—autism and developmental disabilities monitoring network, 14 sites, United States, 2002. MMWR Surveill Summ. 2007;56(1):12-28.

4. Johnson CP, Myers SM; American Academy of Pediatrics Council on Children With Disabilities. Identification and evaluation of children with autism spectrum disorders. Pediatrics. 2007; 120(5):1183-1215.

5. Johnson CP. New tool helps physicians diagnose autism early. AAP News. 2004;24(2):74.

6. Autism Society of America: improving the lives of all affected by autism. http://www.autismsociety.org. Updated January 25, 2008. Accessed December 8, 2008.

7. Juul-Dam N, Townsend J, Courchesne E. Prenatal, perinatal, and neonatal factors in autism, pervasive developmental disorder-not otherwise specified, and the general population. Pediatrics. 2001;107(4):e63. doi:10.1542/peds.107.4.e63.

8. Croen LA, Najjar DV, Fireman B, Grether JK. Maternal and paternal age and risk of autism spectrum disorders. Arch Pediatr Adolesc Med. 2007;161(4):334-340.

9. Muhle R, Trentacoste SV, Rapin I. The genetics of autism. Pediatrics. 2004;113(5):e472-e486. doi:10.1542/peds.113.5.e472.

10. Arndt TL, Stodgell CJ, Rodier PM. The teratology of autism. Int J Dev Neurosci. 2005;23(2-3): 189-199.

11. Deykin EY, MacMahon B. Viral exposure and autism. Am J Epidemiol. 1979;109(6):628-638.

12. Stratton K, Gable A, Shetty P, McCormick M, eds. Immunization Safety Review: Measles-Mumps- Rubella Vaccine and Autism. Washington, DC: National Academy of Sciences; 2001.

13. Immunization Safety Review Committee Board on Health Promotion and Disease Prevention. Immunization Safety Review: Vaccines and Autism. Washington, DC: National Academy of Sciences; 2004.

14. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision (DSM-IV-TR). Washington, DC: American Psychiatric Association; 2000:75.

15. Council on Children With Disabilities; Section on Developmental and Behavioral Pediatrics; Bright Futures Steering Committee, Medical Home Initiatives for Children With Special Needs Project Advisory Committee. Identifying infants and young children with developmental disorders in the medical home: an algorithm for developmental surveillance and screening. Pediatrics. 2006;118(1):405-420.

16. Filipek PA, Accardo PJ, Ashwal S, et al. Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society. Neurology. 2000;55(4):468-479.

17. Autism questions and answers for health care professionals. National Institute of Child Health and Human Development Web site. http://www.nichd.nih.gov/publications/pubs/autism/QA/ sub9.cfm. Updated December 8, 2008. Accessed December 8, 2008.

18. Myers SM, Johnson CP; Council on Children With Disabilities. Management of children with autism spectrum disorders. Pediatrics. 2007;120(5):1162-1182.

19. Turner LM, Stone WL, Pozdol SL, Coonrod EE. Follow-up of children with autism spectrum disorders from age 2 to age 9. Autism. 2006;10(3):243-265.

20. Individuals With Disabilities Education Act of 1990. Pub L No. 101-476 (1990)

21. Autism Tissue Program: The Gift of Hope. http://www.brainbank.org. Udated August 22, 2007. Accessed December 8, 2008.