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Objective: This study aims to delineate the characteristics of severe self-injurious behaviors (SIB) in a cohort of children with autism and unspecified intellectual developmental disorder (UIDD) (intellectual disability) and examine potential risk factors for developing SIB.Methods: A retrospective chart review studied characteristics of severe SIB in 30 children with autism spectrum disorder (ASD) and UIDD referred to a tertiary care center. Characteristics examined include genetic syndromes, brain MRI abnormalities, verbal ability, adaptive functioning, SIB frequency and severity, age of onset, number of psychopharmacological agents, irritability, hyperactivity, stereotypy, psychiatric and physical comorbidities, among others. Descriptive and bivariate analysis were applied to explore potential relationships between factors.Results: Children with severe SIB exhibit this behaviour with high frequency, inflicting moderate to severe injury. Most children in the study sample are non-verbal and have ASD (93.3%; n = 28) with psychiatric (96.7%; n = 29) and physical (90%; n = 27) comorbidities. Overall SIB improvement using the Clinical Global Impression, Improvement Score (CGI-I) was 3.0 (minimally improved). A minority were much or very much improved following appropriate intervention.Conclusions: The severity of SIB is much higher in this sample than previously noted in the literature. Severe SIB is associated with ADHD, early onset mood disorders, tics, avoidant restrictive food intake disorder and Obsessive-Compulsive Disorder.

Xlinked mental retardation XLMR affects 1–21,000 males and accounts for ∼10 of all mental retardation MR. We have ascertained a syndromic form of XLMR segregating within a fivegeneration family with seven affected males. Prominent characteristics include mild to severe MR, cortical malformation, microcephaly, seizures, thin build with distinct facial features including a long and thin face, epicanthic folds, almondshaped eyes, upslanting palpebral fissures and micrognathia and behavioral problems. Carrier females have normal physical appearance and intelligence. This combination of features is unreported and distinct from Lujan–Fryns syndrome, Snyder–Robinson syndrome, and zinc finger DHHC domaincontaining 9associated MR. We propose the name of this new syndrome to be CK syndrome. © 2009 WileyLiss, Inc.

Psychiatric disease occurs with increased frequency in a number of malformation syndromes. We hypothesize that the study of these disorders is helpful for understanding the pathophysiology of psychiatric disease. With this objective, we have been screening for individuals with malformations and prominent psychiatric disease. We report on a man with visual and auditory hallucinations and behavioral problems who was the product of an incestuous relationship and had anomalies primarily of his face, hands and feet. His distinctive features define an undescribed acro‐auricular malformation syndrome with a psychiatric component. The study of Mendelian syndromes such as the one presented will likely be helpful for isolating novel genes involved in psychiatric illness. © 2009 Wiley‐Liss, Inc.

Electroconvulsive therapy (ECT) is an effective treatment of a variety of serious psychiatric and neurologic disorders. There are infrequent case reports of its use in individuals with mental retardation (MR). We describe 10 patients with MR and complex comorbid psychiatric disorder treated with ECT. Seven patients had an excellent response to treatment. Side effects of treatment were minimal and transitory.

Objective: To study the usage, efficacy, and side effects patterns of atypical neuroleptics (atypicals) in adolescents and young adults with developmental disabilities (DDs) (mental retardation).Method: We undertook a chart review of adolescents and young adults (under age 25 years) seen by our specialized mental health team.Results: Risperidone and olanzapine were by far the most frequently prescribed atypicals. Robust clinical effects were noted for both psychotic and nonpsychotic disorders. Most patients tolerated atypicals well, although a significant minority did experience neuroleptic induced movement disorders (NIMDs), particularly dystonias and dyskinesias. Female patients with DDs appear to be at particular risk of NIMDs.Conclusions: Atypicals are useful in treating various conditions associated with DDs. This population, however, seems particularly sensitive to NIMDs, hence caution and close monitoring are required.

Supplemental digital content is available in the text.We present a case of a preteen with autism spectrum disorder and severe self-injurious behavior who developed neuroleptic malignant syndrome on antipsychotics and required urgent electroconvulsive therapy and continued maintenance electroconvulsive therapy for ongoing clinical stability.