Late Onset Autistic Symptoms and Other Fluctuating Behaviors Regina Bussing, MD,* Siraj Siddiqi, MD,† David M. Janicke, PhD,‡ Mary Jo Harbert, MD,§ Doris Trauner, MD,¶ Tasha Taylor, MD,§¶ Martin T. Stein, MD§¶ CASE: Suzanna was born to a 26-year-old woman who used cocaine, alcohol, and cigarettes and experienced domestic violence throughout her pregnancy. Suzanna was placed in foster care with her current adoptive family after her birth. Her initial evaluation at 4 years revealed a global developmental delay (physical: 6 months; social and communication: 12 months). Improvements in development seemed to be in response to subsequent interventions. At 5 years, she had borderline intellectual functioning, an expressive or receptive language disorder, and attention-deficit hyperactivity disorder. Suzanna experienced an abrupt developmental decline at 6 1/2 years old. She lost cognitive abilities, and she no longer carried on conversations. Although she was no longer interactive with most people, she remained affectionate with her parents. Her mother thought that Suzanna had visual and auditory hallucina- tions. In addition, she developed encopresis and hand flapping. A neurological evaluation, including a test for Rett Syndrome, was negative. Her Full Scale IQ dropped from 73 to 50 with decreased adaptive functioning and clinically significant problems with hyperactivity, attention, and functional communication. Suzanna’s development stabilized temporarily during an 18-month period. A second period of declining function included “zombie-like” behavior, anxiety, and hallucinations. Weekly sessions in child psychiatry included treatment with risperidone, methylphenidate, and supportive therapy for mother and child. After some clinical improvements in behavior, attention, and functioning, a psychological assessment confirmed the persistence of moderate mental retardation. A multidisciplinary team considered a diagnosis of childhood disintegrative disorder. (J Dev Behav Pediatr 30:593–596, 2009) DISCUSSION Regina Bussing, MD, Siraj Siddiqi, MD, and David Janicke, PhD Suzanna presented with a complex pattern of several prenatal risk factors and an uneven developmental pro- gression that challenged the diagnostic efforts of our multidisciplinary team. Her prenatal exposure to alco- hol, drugs, and cigarettes increased her risk for adverse developmental outcomes. At her first developmental evaluation at 4 years old, she had a language delay and borderline intellectual function with some features of attention-deficit hyperactivity disorder; however, she was catching up with her developmental milestones. At this evaluation, Suzanna did not have features of autism or pervasive developmental delay although her skills in communication, social relationships, play, and adaptive behaviors were not age appropriate. Two years later, she lost previously acquired skills and now demonstrated hand flapping and stereotypies; in addition, her parents reported auditory and visual hallucinations. The diagnostic team considered several etiologies in- cluding autism, Rett syndrome, childhood disintegrative disorder (CDD), early-onset schizophrenia, and mental retardation. Suzanna met DSM-IV criteria for autism, ex- cept that the core behaviors and the regression had not occurred until 6 years. At this time, Suzanna met some of the criteria for CDD. However, her neurodevelopment was not normal at the time of the behavioral deteriora- tion, and she achieved a better response to interventions than typically seen in CDD. CDD is rare (1.7 per 100,000) and is characterized by a sudden loss of devel- opmental skills and a profound behavioral deterioration with a significant male preponderance. 1 Most of the children with CDD have severe to profound mental retardation. 2,3 A child psychiatric consultation concluded that Suza- nna’s presentation of hallucinations and functional decline was not consistent with childhood schizophrenia, a rare disorder consisting of delusions, hallucinations, disorga- nized speech, behavioral disorganization, and a flat affect. It From the *Departments of Psychiatry, Pediatrics and Clinical and Health Psychology, College of Medicine and College of Public Health and Health Professions, †Depart- ment of Pediatrics, College of Medicine, ‡Department of Clinical and Health Psy- chology, College of Public Health and Health Professions, University of Florida, Gainesville, FL; §Department of Pediatrics, Department of Pediatrics and Neuro- science, University of California San Diego, CA; ¶Rady Children’s Hospital, San Diego, CA. Received September 30, 2009; accepted September 30, 2009. The case summary for the Challenging Case was posted on the Developmental & Behavioral Pediatrics web site http://dbpeds.org.list. Copyright © 2009 Lippincott Williams & Wilkins Challenging Case Vol. 30, No. 6, December 2009 www.jdbp.org | 593