Guidelines for Medical Investigation of Children in Whom Autism is Suspected.

The opinions of three expert panels on guidelines for the medical investigation of children suspected of having an autism spectrum disorder are summarized here. Committees formed by The American Academy of Child and Adolescent Psychiatry (1999), the American Neurological Society (2000), and, most recently, the National Initiative for Autism in the United Kingdom (2002), reviewed the literature to find evidence of best practices in the medical evaluations of children suspected of having autism. Their findings are quite similar, with no important differences in the opinions expressed. As research is still evolving in this area, the recommendations here must be viewed as current guidelines only, and not the final word on the subject.

Physical Examination
The committees recommended these components of a physical examination for all children suspected of having an ASD:

• A thorough history should be taken of the child’s development and should include questions about sleep, and bowel and bladder function.
• Any history of seizures should be elicited.
• All children should have their weight and height and a measurement taken of their head circumference. The parents’ heads should be measured if their child has a particularly large or small head.
• Charting should be done of hearing and vision tests.
• A full neurological examination should be done.
• The skin should be examined for evidence of the lesions found in Tuberous Sclerosis, particularly if the child has had any history of problems with movement, regression, seizures, or developmental delay.

Medical investigations recommended for some children with ASDs
Only a minority of children with autism have co-existing medical problems, and they are usually found in children who have unusual symptoms. There are many theories abroad about medical causes for autism, none of which have good evidence to support them. It is therefore recommended that any biochemical tests should be conducted only by accredited laboratories and that the reasons for the tests be explained fully to parents.

Children in whom there is a high degree of language or learning problems in addition to ASD should have genetic testing, that is, both karyotyping to look for chromosomal abnormalities, and molecular testing to look for Fragile X syndrome.

If a child has shown regression and developmental delay, thought should be given to testing for Rett Syndrome. The committees recommend that routine screening for the MECP2 gene, which is linked to Rett Syndrome, should not be done in all children with ASDs.

Screening for blood lead levels can be done in children who both tend to eat non-food items and who have developed behavioural changes. There is no need for routine screening for lead toxicity of all children suspected of having an ASD. In individuals who have an inadequate diet due to “pickiness,” blood work should be done to identify iron deficiency anemia.

Creatinine phosphokinase (CPK), a chemical released from injured or diseased muscle tissue, should be determined in boys with developmental, language, or walking delay. There is a remote possibility that these boys have a muscular dystrophy in addition to an ASD.

If in the second year, a child shows regression or an unusual pattern of behaviour, consideration should be given to looking for a seizure disorder. EEG studies should then be done. EEGs need not be done routinely on all children with ASDs.

Only in the presence of suspicion that a child has Tuberous Sclerosis, or in some cases, an unusual finding on EEG, should tests such as CT scanning or MRIs be done.

Testing that is not recommended by the committee
There is no evidence to support the use of testing for urinary peptides, vitamin/mineral profiles, intestinal antibodies, or any metabolic functions.

These guidelines were summarized from those published by:

National Autism Plan for Children
Produced by: National Initiative for Autism (NIASA): Screening and Assessment
Ann Le Couteur, Chair, Core Working Group
Published by The National Autistic Society for NIASA in collaboration with
The Royal College of Psychiatrists (RCPsych),
The Royal College of Paediatrics and Child Health (RCPCH)
And the All Party Parliamentary Group on Autism (APPGA)
March 2003-10-30

P. A. Filipek, et al. of the Quality Standards Subcommittee of the American Academy of Neurology and Child Neurology Society (Neurology (55(4): 468-479; 22 August 2000). These findings were endorsed by the American Academy of Audiology, the American Occupational Therapy Association, the Autism National Committee, Cure Autism Now (CAN), National Alliance for Autism Research (NAAR), the American Speech-Language-Hearing Association, and the Society for Developmental Pediatrics.

The Practice Parameters for the Assessment and Treatment of Children, Adolescents, and Adults with Autism and Other Pervasive Developmental Disorders (Journal of the American Academy of Child and Adolescent Psychiatry; 38(12) Suppl.:32S-54S The parameters were presented to Academy members in September 1998 and approved by the Academy Council in June 1999.