Surdna Foundation

Irritability may be seen in patients with autism spectrum disorder, and it may be treated medically. The core features of the ASD diagnosis may confound presumed treatment resistance of irritability in ASD. Mood disorders should be in differential diagnosis if irritability is treatment-resistant in patients with autism. Electroconvulsive therapy (ECT) may be an effective treatment of choice in such patients. In this case report, we present a 16-year-old, 10-month-old male adolescent with autism spectrum disorder who was admitted to our inpatient service due to his self-harming and aggressive behavior with the possibility of severe harm resulting to others. His irritability was resistant to medical treatment; therefore, an underlying mood disorder was considered in the differential diagnosis. This case report presents a patient with treatment-resistant irritability in autism who was treated with fluoxetine and ECT. ECT is being continued as maintenance ECT. While this case is being written, he has received 36th maintenance ECT at a frequency of twice a week. This patient has benefited from a combination of fluoxetine and ECT. In conclusion, in the presence of irritability unresponsive to pharmacological and behavioral treatment in a patient with nonverbal autism spectrum disorder, an underlying mood disorder should be considered, and treatment should be arranged accordingly; ECT and maintenance ECT may be an effective treatment option.

This chapter explores the underpinnings for observational and experimental genetics. Concepts ranging from laws of Mendelian inheritance through molecular and chromosomal aspects of deoxyribonucleic acid (DNA) structure and function are defined. The chapter describes how the failure of two traits to segregate independently can be exploited to find genes and diagnose genetic disorders. The centromere enables correct segregation of the duplicated chromosomal material during meiosis and mitosis. Rare changes in the genetic code that lead to an abnormal trait or disease phenotype are typically termed a mutation. As the study of common and genetically complex human diseases identifies the significant contribution of heredity in their development, it is likely that more genes or genetic risk factors will be found to affect susceptibility to disease rather than the more traditionally considered causative genes. The chapter concludes with clinical examples of the various types of DNA mutation and their implications for human disease.