The 15q11.2 BP1-BP2 deletion (Burnside-Butler) syndrome is emerging as the most common cytogenetic finding in patients with neurodevelopmental or autism spectrum disorders (ASD) presenting for microarray genetic testing. Clinical findings in Burnside-Butler syndrome include developmental and motor delays, congenital abnormalities, learning and behavioral problems, and abnormal brain findings. To better define symptom presentation, we performed comprehensive cognitive and behavioral testing, collected medical and family histories, and conducted clinical genetic evaluations. The 15q11.2 BP1-BP2 region includes the TUBGCP5, CYFIP1, NIPA1, and NIPA2 genes. To determine if additional genomic variation outside of the 15q11.2 region influences expression of symptoms in Burnside-Butler syndrome, whole-exome sequencing was performed on the parents and affected children for the first time in five families with at least one parent and child with the 15q1l.2 BP1-BP2 deletion. In total, there were 453 genes with possibly damaging variants identified across all of the affected children. Of these, 99 genes had exclusively de novo variants and 107 had variants inherited exclusively from the parent without the deletion. There were three genes (APBB1, GOLGA2, and MEOX1) with de novo variants that encode proteins evidenced to interact with CYFIP1. In addition, one other gene of interest (FAT3) had variants inherited from the parent without the deletion and encoded a protein interacting with CYFIP1. The affected individuals commonly displayed a neurodevelopmental phenotype including ASD, speech delay, abnormal reflexes, and coordination issues along with craniofacial findings and orthopedic-related connective tissue problems. Of the 453 genes with variants, 35 were associated with ASD. On average, each affected child had variants in 6 distinct ASD-associated genes (x¯ = 6.33, sd = 3.01). In addition, 32 genes with variants were included on clinical testing panels from Clinical Laboratory Improvement Amendments (CLIA) approved and accredited commercial laboratories reflecting other observed phenotypes. Notably, the dataset analyzed in this study was small and reported results will require validation in larger samples as well as functional follow-up. Regardless, we anticipate that results from our study will inform future research into the genetic factors influencing diverse symptoms in patients with Burnside-Butler syndrome, an emerging disorder with a neurodevelopmental behavioral phenotype.

The need for communication and cooperation between mental health centers and faith communities is especially great in rural areas. This study identified key factors affecting communication and cooperation between these groups from the perspective of the potential stakeholders in interventions meant to improve communication and cooperation. Surveys were distributed to mental health center staff and faith community leaders in rural Kansas (N ϭ 160) assessing factors important to collaborative efforts between the groups. Independent-sample t tests identified significant differences in responses between groups. A thematic analysis of open-ended responses was also conducted, yielding 6 major themes relevant to potential interventions. The identified themes include communication, perceptions of sensitivity, perceptions of efficacy, availability of resources, education, and trust. These themes created the foundation for an interventional framework adapted from the COPE model that accounts for specific needs and obstacles faced by rural communities.

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PROBLEMDiagnosticians, therapists, and research psychologists in institutional settings sooner or later are confronted with the stuporous, mute or severely regressed schizophrenic patient. A large percentage, 30% as reported by Adelson ('1, are untestable. The research psychologist, perhaps, suffers most by exposure to the extremes of pathology because the chronic schizophrenic must often be eliminated from studies which require minimal social or intellectual skills for participation. This study offers an approach which may enhance communication with such patients. The purpose of the study was to design interactions which are no more complex than simple motor responses and yet involve genuine interpersonal behavior. Further, an attempt was made to select interactions which reflect differential levels of pathology. METHODThe criteria for the interactions were: (a) Interactions must be non-verbal since many patients are mute or their verbalizations unintelligible. (b) They must minimize ego involvement on the part of the patient. ( c ) They must require no response which does not have a high probability of current existence in the repertoire of the patient, i.e., must not be novel situations or make any intellectual demands upon the patient. They must not require volition, should not meet with intellectual resistance, and should not appeal to logic or reasoning in effecting a response. (d) They should not entail a reward. (e) They should be objectively quantifiable. (f) They should be such that normals would respond near 100%. (g) They should be interpersonal, that is, they should require that the patient not simply do something, but rather, that he do something with someone. (h) Most important, they must involve or result in a communication with the patient so that an intrusion into the patient's autistic world results.The Interactions. Four simple interactions were finally adopted which conformed to the criteria given above. S waa ushered into a sparsely furnished room by a psychiatric aide and aaked to take a seat at a bare table opposite a female examiner. The aide had been instructed t o smile broadly as she brought the patient in. As the patient waa seated and for approximately 30 seconds thereafter, the E looked directly at her and smiled broadly. If the patient returned the smile a plus waa recorded. 2.Next E revealed a small rubber ball, hitherto concealed, and rolled it across the table to the patient. If the patient rolled the ball back a lus waa recorded. The task waa repeated twice. A plus or minus waa recorded for each of the t&ee trials.The E then removed the ball and placed a bowl of lemon drops on the table. First, she took one, placed it in her mouth and pushed the bowl toward the patient. If the patient took one or more lemon drops and placed them in her own mouth a plus waa recorded.Following this interaction the patient waa directed to watch two female assistants who sat knee to knee. While the patient watched, the two assistants performed a modified version of peas-porridge-hot. That is, they ...