Subphenotyping and Classification of Orofacial Clefts: Need for Orofacial Cleft Subphenotyping Calls for Revised Classification.

Nonsyndromic orofacial clefting (OFC) describes a range of phenotypes that represent the most common craniofacial birth defects in humans, with an overall birth prevalence of 1:700 live births. Because of the lifelong negative implications on health and well-being associated with OFC and the numbers of people affected, quality research into its etiology, diagnosis, treatment outcomes, and preventative strategies is essential. A range of different methods is used for recording and classifying OFC subphenotypes, one of which is the International Classification of Diseases (ICD) system. However, there is a general perception that research is being hampered by a lack of sensitivity and specificity in grouping those with OFC into subphenotypes, with potential heterogeneity and confounding in epidemiologic, genetic, and genotype-phenotype correlation studies. This article provides a background to the necessity of OFC research, discusses current controversies within cleft subphenotyping, and provides a brief overview of current OFC classifications as well as their limitations. The LAHSHAL classification is described in the context of a potentially useful tool for OFC that could complement the ICD-10/ICD-11 Beta coding systems to become a simply understood, universally accepted, clinically friendly, and research-sensitive instrument. Empowering registries, clinicians, and researchers to use a common classification system would have significant implications for OFC research across the world at a time when accurate subphenotyping is crucial and health care research is becoming increasingly tailored toward the individual.

Reliability, completeness and accuracy of cleft subphenotyping as recorded on the CLEFTSiS (Cleft Service in Scotland) electronic patient record.

OBJECTIVES: The CLEFTSiS (Cleft Service in Scotland) electronic patient record (EPR) contains pre-surgical photographs among other records and this study proposes to assess the reliability of diagnosis and accuracy of the type and extent of cleft. DESIGN AND SETTING: Retrospective study, University of Dundee. MATERIALS AND METHODS: From all 1092 cases contained by the CLEFTSiS EPR from inception (April 2000) until September 2011; syndromic, atypical and submucous clefts, still births, abortuses, cases with non-cleft velopharyngeal incompetence, Pierre Robin Sequence, or Simonart's bands were excluded to leave 730 case records for analysis. Observer 1 recorded the LAHSAL subphenotype using the pre-surgical photographs for each case. Images that were absent, only partially demonstrated the intended anatomical site or were unclear were excluded. The data for Observer 1 was compared to the EPR subphenotype using the Kappa statistic. Thirty randomly selected cases were recoded one month later to calculate intra-observer reliability and three further observers subphenotyped these cases to determine inter-examiner reliability, both using Kappa statistics. RESULTS: Intra- and inter-observer reliability of the LAHSAL system were excellent (0.809-0.992). The correspondence between Observer 1 and the original CLEFTSiS subphenotype was almost perfect (0.812-0.862) except the soft palate and the left alveolus, where agreement was substantial (0.638-0.776). Only 68 (9.3%) of the records fully demonstrated all six anatomical areas of the LAHSAL coding system with intra-oral images being the most frequently deficient views. CONCLUSIONS: The subphenotype data held on the CLEFTSiS EPR is accurate but incomplete. Only 9.3% of cases contained all relevant pre-surgical photographs. Subphenotyping using the LAHSAL classification has a high degree of intra- and inter-observer reliability.

Olanzapine-induced mania.

Olanzapine is a relatively new antipsychotic agent which appears to be effective in the treatment of both the positive and negative symptoms of schizophrenia. Reported here is the case of a patient who developed symptoms of mania secondary to treatment with olanzapine. Physicians prescribing olanzapine should be aware of this potential complication.

Medicolegal pitfalls in the involuntary confinement of psychiatric patients in Louisiana.

Involuntary confinement of psychiatric patients is an area fraught with medicolegal risks. This is especially important in states such as Louisiana with large rural areas where involuntary confinement or treatment is often initiated by non-psychiatrists. This paper discusses errors that are frequently made in the process in Louisiana and attempts to help the physician avoid them.