Assessment of personality-related levels of functioning:a pilot study of clinical assessment of the DSM-5 level of personality functioning based on a semi-structured interview

BACKGROUND: The personality disorder categories in the Diagnostic and Statistical Manual of Mental Disorders IV have been extensively criticized, and there is a growing consensus that personality pathology should be represented dimensionally rather than categorically. The aim of this pilot study was to test the Clinical Assessment of the Level of Personality Functioning Scale, a semi-structured clinical interview, designed to assess the Level of Personality Functioning Scale of the DSM-5 (Section III) by applying strategies similar to what characterizes assessments in clinical practice. METHODS: The inter-rater reliability of the assessment of the four domains and the total impairment in the Level of Personality Functioning Scale were measured in a patient sample that varied in terms of severity and type of pathology. Ratings were done independently by the interviewer and two experts who watched a videotaped Clinical Assessment of the Level of Personality Functioning Scale interview. RESULTS: Inter-rater reliability coefficients varied between domains and were not sufficient for clinical practice, but may support the use of the interview to assess the dimensions of personality functioning for research purposes. CONCLUSIONS: While designed to measure the Level of Personality Functioning Scale with a high degree of similarity to clinical practice, the Clinical Assessment of the Level of Personality Functioning Scale had weak reliabilities and a rating based on a single interview should not be considered a stand-alone assessment of areas of functioning for a given patient

Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity

Only 20 patients with deletions of 18q12.2 have been reported in the literature and the associated phenotype includes borderline intellectual disability, behavioral problems, seizures, obesity, and eye manifestations. Here, we report a male patient with a de novo translocation involving chromosomes 12 and 18, with borderline IQ, developmental and behavioral disorders, myopia, obesity, and febrile seizures in childhood. We characterized the rearrangement with Affymetrix SNP 6.0 Array analysis and next-generation mate pair sequencing and found truncation of CELF4 at 18q12.2. This second report of a patient with a neurodevelopmental phenotype and a translocation involving CELF4 supports that CELF4 is responsible for the phenotype associated with deletion of 18q12.2. Our study illustrates the utility of high-resolution genome-wide techniques in identifying neurodevelopmental and neurobehavioral genes, and it adds to the growing evidence, including a transgenic mouse model, that CELF4 is important for human brain development