Genome-wide association study of aggression and violence in schizophrenia.

Schizophrenia patients are at higher risk of engaging in violent behavior than the general population. Schizophrenia is also regarded as a highly heritable disorder. This study aimed to analyze genome-wide the effect of SNPs on violence in schizophrenia. We recruited 205 subjects between the age of 18-75 from the Centre for Addiction and Mental Health (CAMH), who had a diagnosis of schizophrenia or schizoaffective disorder. We recorded physical, verbal and lifetime violence scores indicating any violent actions to inflict pain, bodily harm, or death on another individual from the standardized scale, Modified Overt Aggression Scale (MOAS). We genotyped each participant's DNA using the Illumina Omni 2.5, and the SNPs were analyzed using the whole genome analysis tool-set, PLINK. We probed for single nucleotide polymorphisms (SNPs) correlated with violence in schizophrenia patients. We found one SNP (rs2188177) on chromosome 7 which showed a trend for association with physical violence (p = 7.80E-06). This study is the first of its kind to investigate genome-wide, the polymorphisms associated with violence in schizophrenia. The findings of this study may promote collaborative efforts to understand the genetic basis of violent behavior in psychosis.

Applying deep neural networks to unstructured text notes in electronic medical records for phenotyping youth depression.

BACKGROUND: We report a study of machine learning applied to the phenotyping of psychiatric diagnosis for research recruitment in youth depression, conducted with 861 labelled electronic medical records (EMRs) documents. A model was built that could accurately identify individuals who were suitable candidates for a study on youth depression. OBJECTIVE: Our objective was a model to identify individuals who meet inclusion criteria as well as unsuitable patients who would require exclusion. METHODS: Our methods included applying a system that coded the EMR documents by removing personally identifying information, using two psychiatrists who labelled a set of EMR documents (from which the 861 came), using a brute force search and training a deep neural network for this task. FINDINGS: According to a cross-validation evaluation, we describe a model that had a specificity of 97% and a sensitivity of 45% and a second model with a specificity of 53% and a sensitivity of 89%. We combined these two models into a third one (sensitivity 93.5%; specificity 68%; positive predictive value (precision) 77%) to generate a list of most suitable candidates in support of research recruitment. CONCLUSION: Our efforts are meant to demonstrate the potential for this type of approach for patient recruitment purposes but it should be noted that a larger sample size is required to build a truly reliable recommendation system. CLINICAL IMPLICATIONS: Future efforts will employ alternate neural network algorithms available and other machine learning methods.

Comparison of surgeon and physiotherapist-directed Ponseti treatment of idiopathic clubfoot.

BACKGROUND: Increasingly, the Ponseti method has been adopted worldwide as the preferred method of managing idiopathic clubfoot deformity. Following the successful implementation of the Ponseti method by orthopaedic surgeons in our institution, a clubfoot clinic was established in 2003. This clinic is directed by a physiotherapist who, using the Ponseti protocol, performs the serial cast treatment and supervises the brace management of all children with idiopathic clubfoot deformity. The purpose of this study was to compare the outcomes of physiotherapist-directed with surgeon-directed Ponseti cast treatment of idiopathic clubfeet. METHODS: We performed a retrospective cohort study of all patients with idiopathic clubfoot deformity treated from 2002 to 2006 and followed for a minimum of two years. Twenty-five children (thirty-four clubfeet) treated by surgeons were compared with ninety-five children (137 clubfeet) treated by a physiotherapist. The outcomes that were evaluated included the number of casts required, the rate of percutaneous Achilles tenotomy, the rate of recurrence, the failure rate, and the need for additional surgical procedures. RESULTS: At the time of presentation, the patients in the two groups were similar in terms of age, sex distribution, laterality of the clubfoot, and history of treatment. The mean duration of follow-up was thirty-four months in the physiotherapist-directed group and forty-eight months in the surgeon-directed group. No significant difference was found between the two groups with regard to the mean number of initial casts, the Achilles tenotomy rate, or the failure rate. Recurrence requiring additional treatment occurred in 14% of the feet in the physiotherapist-directed group and in 26% of the feet in the surgeon-directed group (p = 0.075). Additional procedures, including repeat Achilles tenotomy or a limited posterior or posteromedial release, were required in 6% of the feet in the physiotherapist-directed group and in 18% of those in the surgeon-directed group (p = 0.025). CONCLUSIONS: In our institution, the Ponseti method of cast treatment of idiopathic clubfeet was as effective when it was directed by a physiotherapist as it was when it was directed by a surgeon, with fewer recurrences and a less frequent need for additional procedures in the physiotherapist-directed group. The introduction of the physiotherapist-supervised clubfoot clinic at our institution has been effective without compromising the quality of care of children with clubfoot deformity.

Treatment of neuromuscular and syndrome-associated (nonidiopathic) clubfeet using the Ponseti method.

BACKGROUND: Clubfeet are associated with many neuromuscular and congenital conditions. Nonidiopathic clubfeet are typically thought to be resistant to nonoperative management. The Ponseti method has revolutionized the treatment of patients with idiopathic clubfeet. The purpose of this study was to describe the use of the Ponseti method in the treatment of patients whose clubfeet are associated with a neuromuscular diagnosis or a syndrome. METHODS: All patients with clubfeet who were treated at the Hospital for Sick Children, Toronto, from 2001 to 2005 were reviewed. Patients were included only if a neuromuscular condition or a syndrome associated with clubfeet could be identified and if the primary treatment was at our institution. Twenty-three patients with 40 nonidiopathic clubfeet and 171 patients with 249 idiopathic clubfeet have been treated with a minimum follow-up time of 1 year. The outcomes evaluated included the number of casts, the percentage of patients requiring percutaneous Achilles tendon lengthening (tenotomy of the Achilles tendon [TAT]), rate of recurrences, rate of failures, and the need for additional secondary procedures. RESULTS: The mean age at presentation for nonidiopathic clubfeet was 11 weeks. The mean follow-up time was 33 months, and the mean number of casts was 6.4; a percutaneous TAT was necessary in 27 (68%) of 40 feet. Failure of the Ponseti casting occurred in 4 (10%) of the 40 feet. Recurrence requiring additional treatment occurred in 16 (44%) of 36 feet. Additional procedures included second percutaneous TAT, limited posterior/plantar release, or complete posteromedial release totaling 11 (28%) of 40. When compared with idiopathic clubfeet, nonidiopathic clubfeet required more casts and had a higher rate of failures, recurrences, and additional procedures than idiopathic clubfeet. CONCLUSIONS: Although not as successful as for idiopathic clubfeet, when the Ponseti technique is applied to nonidiopathic clubfeet, correction can be achieved and maintained in most patients. LEVEL OF EVIDENCE: Prognostic level 2.