Rainbow Pediatrics Knowledgebase


		Knowledgebase: Behavioral, Developmental, and Emotional Problems Questions about behavioral and emotional problems, Autism, developmental delays. 5. Don't Stop Investigating After Making Autism Dx - Top Don't Stop Investigating After Making Autism Dx Pediatric News, May 2001 BY KATE JOHNSON Contributing Writer C A R M E L, C A L ~ F. — The diagnosis of autism should not be the end point in the investigation of a child's behavioral and developmental abnormalities, according to an expert in neurodevelopmental disorders. This is because autism can often coexist with several syndromes that also need to be diagnosed, Dr. Randi Hagerman said at the Western regional meeting of the American Federation for Medical Research. "It's important to diagnose these conditions for the sake of the child and also for the sake of the extended family. We have a wealth of information about many disorders, including what medications are best and what other kinds of complications to expect. And also, information about this diagnosis can have huge consequences for the extended family,"—which family members may be carriers and what kinds of genetic counseling they need to get, she told this newspaper. It is generally accepted that the prevalence of autism and autismlike disorders is increasing, said Dr. Hagerman, professor of pediatrics at the University of California, Davis, and director of the MIND (Medical Investigation of Neurodevelopmental Disorders) Institute, Sacramento. A recent Centers for Disease Control and Prevention study estimated an incidence of 6.7 cases per 1,ooo for autistic spectrum disorders and 4 cases per 1,000 for true autism. That incidence is up lo-fold from an estimated 4.5 cases per l0,000 in the 1960s. The reason for this increase is not fully understood, although there are several recognized causes of the disorder, including genetic abnormalities and teratogenic syndromes such as fetal alcohol syndrome. Conditions that sometimes occur in conjunction with autism include phenylketonuria and Rett syndrome, which stem from a genetic abnormality. But perhaps the most common genetic abnormality occurring with autism is fragile X syndrome, which is found in about 6% of children with autism, said Dr. Hagerman. "Fragile X is the most common cause of inherited mental retardation known, and 1 in every 250 women is a carrier." Individuals who are affected usually have problems with hyperactivity, short attention span, overreacting to sensory stimuli, hand flapping, poor eye contact, shyness, and social anxiety. About 30% of these children will have full-blown autism, but others may have milder learning problems or milder attention-deficit hyperactivity disorder problems. She recommends that children diagnosed with autism undergo high-resolution cytogenic studies with fluorescent in situ hybridization testing looking for a cytogenetic abnormality such as a 15q duplication. They also should undergo fragile X DNA testing to identify fragile X syndrome. Dr Hagerman stressed that the earlier a child's behavioral and developmental problems are properly diagnosed, the more likely he or she will get the right interventions. Research suggests that in many cases, children with autism process information in a different part of their brain. If this can be interrupted early and they can be taught to process information differently, their abnormal social development could possibly be halted, she said. Red flags for physicians and parents include a child not talking by age 2 and lack of eye contact and response to different facial expressions at this age. In addition, symbolic play—such as pretending to pour tea or playing with dolls— should be obvious at this age, as should "joint attention" (the ability of a child to orient to another person's attempt to get the child's attention and to follow the direction of a verbal or nonverbal cue). - Updated: May 18, 2001 [e-Mail me the Knowledgebase]- [Search our Knowledgebase] - [Question Not Answered?]
James L Horwitz, MD David C. Thomas, MD Barbara Lindberg, PNP