1. Laje G, Morse R, Richter W, Ball J, Pao M, Smith AC. {{Autism spectrum features in Smith-Magenis syndrome}}. {Am J Med Genet C Semin Med Genet} (Nov 15);154C(4):456-462.
Smith-Magenis syndrome (SMS; OMIM 182290) is a neurodevelopmental disorder characterized by a well-defined pattern of anomalies. The majority of cases are due to a common deletion in chromosome 17p11.2 that includes the RAI1 gene. In children with SMS, autistic-like behaviors and symptoms start to emerge around 18 months of age. This study included 26 individuals (15 females and 11 males), with a confirmed deletion (del 17p11.2). Parents/caregivers were asked to complete the Social Responsiveness Scale (SRS) and the Social Communication Questionnaire (SCQ) both current and lifetime versions. The results suggest that 90% of the sample had SRS scores consistent with autism spectrum disorders. Moreover, females showed more impairment in total T-scores (P = 0.02), in the social cognition (P = 0.01) and autistic mannerisms (P = 0.002) subscales. The SCQ scores are consistent to show that a majority of individuals may meet criteria for autism spectrum disorders at some point in their lifetime. These results suggest that SMS needs to be considered in the differential diagnosis of autism spectrum disorders but also that therapeutic interventions for autism are likely to benefit individuals with SMS. The mechanisms by which the deletion of RAI1 and contiguous genes cause psychopathology remain unknown but they provide a solid starting point for further studies of gene-brain-behavior interactions in SMS and autism spectrum disorders. Published 2010 Wiley-Liss, Inc.
2. Robb AS. {{Managing irritability and aggression in autism spectrum disorders in children and adolescents}}. {Dev Disabil Res Rev} (00);16(3):258-264.
Children with autism and autism spectrum disorders have a high rate of irritability and aggressive symptoms. In one study up to 20% of children with autism have symptoms of irritability and aggression including aggression, severe tantrums, and deliberate self injurious behavior (Lecavalier [ 2006] J. Autism Dev. Disord. 36:1101-1114.). These symptoms can lead to impairment and distress in both home and school settings. Medications to treat the irritability will be discussed across categories of antipsychotics, antidepressants, antihypertensive agents, and others. Emphasis will be placed on medications with the most safety and efficacy and FDA approval. (c) 2010 Wiley-Liss, Inc. Dev Disabil Res Rev 2010;16:258-264.
