CNS Spectrums Journal March 1998
Published in the CNS Spectrums Journal Volume 3 -Number 3 • March 1998
Autism Screening and Diagnostic Evaluation: CAN Consensus Statement
- Discuss the usefulness of a simple screening tool for autism and pervasive developmental disorders.
- Identify appropriate neurodevelopmental evaluations in children with language delay or other indicia of autism.
- Discuss appropriate laboratory studies for children with suspected autism.
Cure Autism Now (CAN) Consensus Group:
The following individuals participated in the conference, or through their reviews of the initial draft, made substantive contributions to this preliminary consensus.
Dr. Jeffrey L. Cummings is professor of neurology and psychiatry at the UCLA School of Medicine.
Dr. Eric Hollander is professor of psychiatry and clinical director of the Seaver Autism Research Center at The Mount Sinai School of Medicine in New York and the editor of the CNS Spectrums Journal.
Dr. Salvatore DiMauro is professor of neurology at the College of Physicians and Surgeons at Columbia University in New York.
Dr. Edwin H. Cook is associate professor of psychiatry and pediatrics and director of the laboratory of developmental neuroscience at the University of Chicago in Illinois.
Dr. Jay Lombard is chief of neurology at the New York Westchester Square Medical Center.
Dr. Gerry Stefanatos is director of the Center for Clinical and Developmental Neuropsychology at Thomas Jefferson University in Philadelphia, PA.
Dr. Carol A. Sprouse is director of the Infant and Child Studies Department of Clinical Genetics at the Children’s National Medical Center in Washington, DC.
Dr. Stephen H. Mott is medical coordinator in the Development Center of the Department of Neurology at the Children’s Hospital National Medical Center in Washington, DC.
Dr. Andrew Zimmerman is pediatric neurologist at the Center for Autism and Related Disorders and associate professor of neurology and psychiatry at Johns Hopkins University School of Medicine in Baltimore, MD.
Dr. Diane C. Chugani is assistant professor of pediatrics in the Department of Pediatrics, Radiology, and Neurology at Wayne State University in Detroit, MI.
Dr. Michael G. Chez is assistant professor of neurology and epilepsy at Rush Presbyterian-St. Luke’s Medical Center in Lake Forest, IL.
Dr. Jeffrey Lewine is associate professor of radiology and director of the Functional Brain Imaging Program in the Department of Radiology at the University of Utah School of Medicine in Salt Lake City.
Dr. Lenore Iversen is a child psychiatrist with the Ventura County Mental Health Department in Los Angeles, CA.
Dr. Harley Kornblum is assistant professor in the Department of Molecular and Medical Pharmacology and Pediatrics at the UCLA School of Medicine.
Dr. Audrey Griesbach is a developmental pediatrician in Beverly Hills, CA.
Dr. Bruce Miller is professor of neurology at the UCLA School of Medicine.
Dr. Ricki Robinson is clinical professor of pediatrics at the Children’s Hospital of Los Angeles in California.
Dr. Doris A. Trauner is professor of pediatric neurology and chief of the Division of Pediatric Neurology at the University of California, San Diego School of Medicine.
Dr. Mark P. Nespeca is a pediatric neurologist at the Children’s Hospital – San Diego in California.
Dr. Gene E. Stubbs is associate professor of psychiatry at the Oregon Health Sciences University in Portland, OR.
Ellen Bolte is the secretary for the CAN Board of Directors in California.
Autism and related disorders occur in as many as one in 500 children. Recognizing the need for uniform recommendations to help guide the initial diagnostic evaluation and referrals in this area, an initial working group of the Cure Autism Now Foundation promul- gated the following consensus guidelines for autism screening and diagnostic referral. Although these recommendations were formu- lated using the best information currently available, they are likely to be modified as the results of additional studies become available; however, they provide a useful tool for clinicians involved in the management of children with autism and related developmental abnormali- ties.
Autism is a neuropsychiatric syndrome characterized by onset prior to age 3 of severe abnormalities of reciprocal social relatedness; communication deficits (including deficits in language); and restricted, stereotyped patterns of interest and behaviors. 1-3
Although autism has a wide spectrum of clinical presentations, it is distinct from other childhood neuropsychiatric disorders and primary forms of mental retarda- 3 tion. Autism presents a clinical challenge. Children with autism and related disorders, pervasive developmental disorders (PDDs), are often not diagnosed until several years after initially presenting for medical or behavioral evaluation. This is due in part to the lack of uniform guidelines for surveillance, diagnostic evaluation, and follow-up of children with autism and related disorders.
Early diagnosis, however, may be essential to successful intervention in children with autism or other developmental language delay. Ad- vances in developmental neurobiology and psychology suggest that the first few years of life represent a critical period for the develop- ment of many perceptual and higher-order processing systems in the human brain.4-8 Recent evidence also indicates that early identification and subsequent treatment may portend a better progno- sis.9-12
Recognizing the need for early diagnosis and treatment, Cure Autism Now (CAN) convened this initial working group to produce the following consensus outline for screening, workup, and referral.
Because few controlled trials have been con- ducted, in many areas this consensus is based on clinical experience and judgment. Therefore, these recommendations are likely to be modified as new data becomes available. Nevertheless, they represent the consensus of a group of neurologists, pediatri- cians, psychologists, and psychiatrists who are experienced in the diagnosis, evaluation, and treatment of children with autism, using the best information currently available.
This consensus statement is intended as a brief outline and not a comprehensive guide. Detailed practice guidelines for children with PDD are forthcoming from the American Academy of Child and Adolescent Psychiatry (personal communica- tion, F Volkmar and D. Cohen, January, 1998). General detailed guidelines for the workup of infants and toddlers with psychiatric disorders are available from that same organization.13
Autism and related disorders occur in between one and 500 and one in 1,000 children.12,14-18
Many pediatricians are uncertain how to proceed with the workup of the 1 to 2-year-old child who looks normal, but in whom the parents complain of delayed language or social behavior relative to other children.
Parents may even report subtle regression. Because timely identification may lead to early intervention and better outcomes,9-12 a standard screening device that can help distinguish between potentially autistic and nonautistic behaviors, and identify most children at risk, would prove benefi- cial.
The Checklist for Autism in Toddlers (CHAT) successfully identifies autism or PDD in may
Published in the CNS Spectrums Journal Volume 3 -Number 3 • March 1998
In Britain, this 3-minute screening tool has been shown to predict 90% of children who will develop autism, PDD, Asperger’s syndrome, or other developmental delay syndromes.20 Therefore, until a better screening tool is developed, the consensus panel recom- mends that all children (especially those with symptoms or parental concerns suggestive of PDD) be screened by their pediatricians at 18 months of age using the CHAT.
A normal CHAT, however, does not rule out a developmental disorder. Suspicion by the parent or clinician of poorly developed verbal or nonverbal communication skills should always trigger appropriate referral for formal speech, language, and developmental evaluation. Abnormal performance on the CHAT requires further assessment for possible PDD, but may be found in many children who develop normally or who do not have autism or another PDD.
Abnormal CHAT or language delay in a child of any age should trigger referral to an appropri- ate specialist for neurodevelopmental and hearing evaluation. In addition, language or other developmental regression should trigger a prompt and comprehensive neurologic evalua- tion.
Neurodevelopmental specialists may be certified in a variety of disciplines, including child psychiatry, pediatric neurology, develop- mental pediatrics, neuropsychology, or child psychology. Any such specialist, however, must be experienced in the evaluation and therapy of children with language delay.
The initial specialist evaluation should include, but need not be limited to:
1) neurologic examination with detailed medical exam, mental status evaluation, and thorough family history;
2) speech and language evaluation;
and 3) develop- mental history and direct evaluation using a reliable diagnostic instrument to distinguish children with autism or another PDD from children with other developmental difficulties for example, the Autism Diagnostic Interview the Autism Diagnostic Observation Schedule.
Evaluation of the child’s social and emotional developmental levels by a professional who is trained in assessment in the presence of commu- nication impairment and behavioral problems common in autism is also recommended.
The hearing evaluation should be behavioral in focus and include pure formal tone audiometry performed by an experienced pediatric audiologist. Brainstem auditory evoked potentials are necessary only if the initial test is equivocal, suboptimal, or suggests central nervous system abnormality.
If autism is suspected following these initial evaluations and the etiology remains unclear, the following lab studies are recommended to be carried out under the supervision of the specialist.
A significant number of children with autism and related disorders may have abnormal electroencephalograms (EEGs), and many have epileptiform activity and/or epilepsy.12,21-24 An extended EEG including all four stages of sleep is recommended, especially in children with regres- sion, those with poor phonology, or those who are nonverbal. Whether the recording is conducted for 4 hours, overnight, or for a complete 24-hour period is not currently specified, since the optimal time length is not known. But, some children will require overnight or 24-hour EEGs to obtain all stages of sleep.
For children in whom clinical or subclinical seizure activity is suspected, one or more 24-hour EEGs are recommended, since longer recordings are more likely to detect abnormalities that may be clinically relevant. In children who exhibit good phonology or who lack other clinical indicators of seizure activity, recommendations for the level of clinical aggressiveness, remain to be empirically determined.
Metabolic screening should be conducted if believed appropriate in the clinical judgment of the specialist. Metabolic tests should be considered specifically in patients with PDD, atypical findings on physical examination, or hypotonia.
The follow- ing may be considered in the metabolic assessment:
1) quantitative amino acids;
2) urine organic acids;
3) uric acid (24-hour urine);
4) thyroid studies;
5) lactate, pyruvate and carnitine; and
6) lead levels. Unfortunately, the utility of these tests in large populations of infants with suspected autism or language delay is unknown.
Although several studies have demonstrated the possibility of subtle neuroanatomic anoma- lies associated with autism, no protocols to date have yielded findings of sufficient magnitude to provide diagnostic specificity on a case-by-case basis. In the clinical experience of this consen- sus group, treatable conditions masquerading as autism are unusual.13,18
Therefore, the use of neuroanatomic imaging studies such as mag- netic resonance imaging in the primary diagnos- tic workup of children with autism is likely to benefit only those for whom neurologic exami- nation, EEG, or other clinical indicators suggest a focal lesion.
For example, 3% to 9% of children with the triad of epilepsy, retardation, and autism may have tuberous sclerosis, which can otherwise remain undiagnosed at early stages.2,25 In these children, and in any with features suggestive of focal brain lesions, imaging is indicated.
Although valuable research tools, functional brain imaging techniques such as single photon emission tomography, positron emission tomography, magnetoencephalography, or magnetic resonance spectroscopy are of uncertain utility in the diagnosis or treatment of suspected autism. These modalities may be useful in specific circumstances, such as the localization of seizure foci.
Karyotype and DNA Testing for Fragile X
Population-based studies suggest that
between 5% and 12% of children with autism
have underlying medical or genetic conditions.25
Both karyotype and fragile X chromosome
testing should therefore be considered,14,26
depending on the degree of clinical suspicion.
These tests are especially recommended for
genetic counseling purposes in families who are
planning to have additional children. Karyotyp-
ing should be at high resolution with particular
attention paid to possible duplications of 15q11- 13.27
Other Laboratory Tests
Children with autism may have an increased incidence of certain infections, such as otitis media.28,29 Altered immune parameters have also been demonstrated in some cases.30,31 In addition, a higher incidence of allergies has been reported in this population,30,31 and one study has suggested an increase in gastrointesti-
nal disturbances.32 Given the poor communication skills of children with autism, the treating physician should maintain a high index of suspicion for infection or other medical problems, particularly during periods of behavioral regression or exacerba- tion.
Longitudinal follow-up may be conducted by a neurodevelopmentalist in a specialty clinic for the purposes of evaluating and modifying therapies. Many children with autism exhibit some combina- tion of abnormal sleep patterns, mood disorders, aggression, self-abuse, compulsive behaviors, or abnormal attention spans.2,12,25 Psychiatric evalua- tion can therefore be a critical element in the diagnosis and longitudinal follow-up of children with autism and related disorders.
Psychological, developmental testing and EEG monitoring (in patients with seizures or epileptiform activity) should be repeated as clinically indicated, and may be useful tools in the monitoring of patient response to therapy. However, the role of EEG and the significance of epileptiform and nonepileptiform abnormalities in patients with suspected or diag- nosed autism are currently uncertain. There is a need for controlled studies to address these issues.
Autism is as common as many other childhood medical disorders such as diabetes and leukemia. However, detection of the autistic child is often delayed significantly beyond the time of first suspicion by parents. The CHAT is a rapid and convenient tool that should be used to screen all 18- month-old children for autistic spectrum disorders. Children with a positive CHAT should be referred to a neurodevelopmental specialist with expertise in autism for further workup and longitudinal evalua- tion.
A normal CHAT, however, does not rule out a developmental disorder, and suspicion of poorly developed verbal or nonverbal communication skills by parents or the clinician should always trigger referral for formal speech, language, and develop- mental evaluation. Longitudinal studies ascertaining the efficacy of the CHAT in diverse clinical settings are needed, as are investigations of the utility of other screening instruments for children with language, social, and adaptive behavioral delays. Detailed neurologic, medical, psychological, speech, and language evaluations should be made a part of every autism workup.
This consensus statement highlights the large gaps in our current knowledge regarding the appropriate evaluation of children with autism and related disorders (PDD). At this point, management depends largely upon the expert judgment of clinicians experienced in autism, language delay, and pediatric neurology and psychiatry, rather than data gathered from controlled clinical trials. It is the hope of this consensus group that this deficiency in trial data will soon be rectified.
The following individuals are thanked for critical comments on initial drafts of the consensus: Edward Ornitz, MD, UCLA; James McCracken, MD, UCLA Neuropsychiatric Institute; Christopher Gillberg, MD, Annedals Clinic, University of Göteborg; Joseph Piven, MD, University of Iowa; Wendy L. Stone, PhD, Vanderbilt University School of Medicine; Stanley Greenspan, MD, George Washington University Medical School; Nancy Minshew, MD, Autism Project, Pittsburgh Medical Center; Simon Baron-Cohen, PhD, University of Cambridge. This meeting was sponsored by Cure Autism Now and held on March 10, 1997 in Redondo Beach, California. The participants gratefully acknowledge Portia Iversen and Jonathan Shestack, as well as all of the parent members of CAN, for their support of this consensus conference. Support from the Parke- Davis company is also gratefully acknowledged.
- Rutter M. Diagnosis and definitions of childhood autism. J Autism Dev Disord. 1978;8:139-161.
- Gilberg C, Coleman M. The Biology of the Autistic Syndromes. 2nd ed. New York, NY: Cambridge University Press; 1992.
- American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 4th ed. Washington, DC: American Psychiatric Association Press; 1994.
- Rakic P. The development of the frontal lobe: a view from the rear of the brain. Adv Neurol. 1995;66:1-6. 5. Rakic P, Bourgeois JP, Goldman-Rakic PS. Synaptic
development of the cerebral cortex: implications for learning, memory, and mental illness. Prog Brain Res. 1994;102:227-243.
- Katz LC, Shatz CJ. Synaptic activity and the construc- tion of cortical circuits. Science. 1996;274:1133-1138.
- Huttenlocher PR, de Courten C, Garey LJ, Van der Loos H. Synaptic development in human cerebral cortex. Int J Neurol. 1982;16-17:144-154.
- Huttenlocher PR, Dabholkar AS. Regional differences in synaptogenesis in human cerebral cortex. J Comp Neurol. 1997;387:167-178.
- Rogers SJ. Early intervention in autism (brief report). J
Autism Dev Disord. 1996;26:243-246.
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Changes in cognitive and language functioning of preschool
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- Rapin I. Autism. N Engl J Med. 1997;337:97-104. 13.American Academy of Child and Adolescent Psychiatry.
Practice parameters for the psychiatric assessment of infants and toddlers (0-36 months). J Am Acad Child Adolesc Psychiatry. 1997;36(Suppl 10):21S-36S.
14.Wing L. Autistic spectrum disorders. BMJ. 1996;312:327- 328.
15.Gillberg C. Steffenburg S, Schaumann H. Is autism more common now than ten years ago? Br J Psychiatry. 1991;158:403-409.
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21.Tuchman RF, Rapin I. Regression in pervasive developmental disorders: seizures and epileptiform electroencephalogram correlates. Pediatrics. 1997;99:560-566.
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Published in the CNS Spectrums Journal Volume 3 -Number 3 • March 1998
More With Cure Autism Now
Autistic people have fought the inclusion of ABA in therapy for us since before Autism Speaks, and other non-Autistic-led autism organizations, started lobbying legislation to get it covered by insurances and Medicaid.
ABA is a myth originally sold to parents that it would keep their Autistic child out of an institution. Today, parents are told that with early intervention therapy their child will either be less Autistic or no longer Autistic by elementary school, and can be mainstreamed in typical education classes. ABA is very expensive to pay out of pocket. Essentially, Autism Speaks has justified the big price tag up front will offset the overall burden on resources for an Autistic’s lifetime. The recommendation for this therapy is 40 hours a week for children and toddlers.
The original study that showed the success rate of ABA to be at 50% has never been replicated. In fact, the study of ABA by United States Department of Defense was denounced as a failure. Not just once, but multiple times. Simply stated: ABA doesn’t work. In study after repeated study: ABA (conversion therapy) doesn’t work.
What more recent studies do show: Autistics who experienced ABA therapy are at high risk to develop PTSD and other lifelong trauma-related conditions. Historically, the autism organizations promoting ABA as a cure or solution have silenced Autistic advocates’ opposition. ABA is also known as gay conversion therapy.
The ‘cure’ for Autistics not born yet is the prevention of birth.
The ‘cure’ is a choice to terminate a pregnancy based on ‘autism risk.’ The cure is abortion. This is the same ‘cure’ society has for Down Syndrome.
This is eugenics 2021. Instead of killing Autistics and disabled children in gas chambers or ‘mercy killings’ like in Aktion T4, it’ll happen at the doctor’s office, quietly, one Autistic baby at a time. Different approaches yes, but still eugenics and the extinction of an entire minority group of people.
Fact: You can’t cure Autistics from being Autistic.
Fact: You can’t recover an Autistic from being Autistic.
Fact: You can groom an Autistic to mask and hide their traits. Somewhat. … however, this comes at the expense of the Autistic child, promotes Autistic Burnout (this should not be confused with typical burnout, Autistic Burnout can kill Autistics), and places the Autistic child at high risk for PTSD and other lifelong trauma-related conditions.
[Note: Autism is NOT a disease, but a neurodevelopmental difference and disability.]
Fact: Vaccines Do Not Cause Autism.