Abstract

[Author Affiliation]Ali Bacanli. Department of Child and Adolescent Psychiatry, Baskent University; Zubeyde Hanim Hospital, Izmir, Turkey.Address correspondence to: Ali Bacanli, MD, Department of Child and Adolescent Psychiatry, Baskent University, Zubeyde Hanim Hospital, 6471/5 Sokak No:7 Yali Mahallesi Karsiyaka, Izmir 35550, Turkey, E-mail: ali_bacanli@yahoo.comTo The Editor:The dual diagnosis of Down syndrome (DS) and autism spectrum disorders (ASD) is a relatively rare clinical phenomenon. The prevalence of ASD in DS is unknown, but estimated to be 1-11%, depending upon the methodology of studies (Starr et al. 2005). People with DS have been traditionally described as friendly, affectionate, and extroverted (Gibbs et al. 1983). Also, several studies report that these personality traits protect against specific disorders such as ASD (Howlin et al. 1995). However, other researchers have suggested that 10-20% of individuals with Down syndrome display significant behavioral problems. This subgroup of Down syndrome may actually be at increased risk for ASD (Reilly 2009). Therefore, ASD must be considered as a possible comorbid condition in some cases of DS. Early diagnosis is very important, because these children are likely to require different treatment and educational approaches than children with Down syndrome alone.To my knowledge, there is only one study that reported risperidone to be effective in hyperactivity, disruptive behaviors, and social withdrawal in children with DS and comorbid ASD (DS+ASD) (Capone et al. 2008). Also aripiprazole is an atypical antipsychotic agent that became the second agent approved by the United States Food and Drug Administration (FDA) for managing irritability in children and adolescents 6-17 years old with ASD. This case report describes the case of a 6-year-old boy who was diagnosed with DS+ASD and showed a significant improvement in irritability, hyperactivity, lethargy, and self-injury behaviors after aripiprazole treatment. Permission was given by the patient's family for treatment and publication.Case ReportThe patient was a 6-year-old male. He was born by normal delivery at the 37th gestational week, weighing 2.8 kg following an uneventful pregnancy and an uncomplicated vaginal delivery. He was taken to the department of pediatrics, Gaziantep Child Hospital at 8 months of age because of developmental retardation. Down's syndrome was diagnosed based on the patient's facial features, and was later confirmed by a chromosomal analysis (caryotype: 47, XY, +21). As an infant, the patient showed little affection and did not smile or laugh while playing. Compared with his siblings, his eye-to-eye contact was poor. Review of early milestones showed global developmental delays with unsupported sitting at 2 years, beginning to talk independently at 3 years and 6 months, and saying his first recognizable words at 4 years. He began attending a school for children with learning difficulties at the age of 5 years. At the end of the school year, his teacher recommended that family see a child psychiatrist, because the patient was not able to adapt to the individualized education program in school. Also he was referred for assessment and treatment of his behavioral problems.During the interview with the parents and children, the parents said that the patient responded to his name being called, but only on the third or fourth repetition; he was markedly limited in his use of facial expressions and abnormalities in eye contact, did not attempt to share his enjoyment of things with others and preferred to be alone, and had a great difficulty in accepting changes in routine. His verbal communication was delayed, and his speech could be understood by people who knew him only with difficulty. Behavioral problems involved hyperactivity, unprovoked aggression, and self-injurious behaviors such as hand biting when angry. On mental status examination, details about his behavior as given in the history were confirmed. …

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