X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort.

BACKGROUND: X-linked juvenile retinoschisis (×LRS) is an X-linked vitreoretinal degenerative disease that consists of variable phenotypes ranging from severe early-onset defects to subtle abnormalities diagnosed in elderly patients. XLRS is caused by a loss of function of the protein Retinoschisin (RS1), which is essential to preserve retinal integrity and function of photoreceptor-bipolar synapse. The literature data so far mostly agree on the absence of a clear genotype-phenotype correlation in XLRS. We reviewed clinical and molecular characteristics of a cohort of Italian pediatric XLRS patients to assess the presence of a correlation between genotype and phenotype severity. MATERIALS AND METHODS: We retrospectively examined clinical and genetic features of a cohort of 27 XLRS patients. In this study we included patients with a diagnosis of XLRS confirmed by fundus photography, spectral domain optical coherence tomography, and molecular analysis and with an onset of less than 10 years of age. We sorted RS1 variants according to their effect of RS1 structure and function in three separate groups. RESULTS: According to previous studies, we did not observe a conclusive genotype-phenotype correlation in our cohort; nevertheless, we noticed that patients harboring RS1 variants leading to RS1-secreted mutants show a more homogeneous phenotype, with an overall good visual acuity, compared to the other two groups. CONCLUSIONS: Our data support the hypothesis that secretion profile of RS1 could influence the severity of the phenotype. More extensive and functional studies are needed to acquire notions in view of the opportunity of gene replacement therapy for XLRS patients.

Response to sexual assault: a relational perspective.

It has been suggested that although the severity of the stressor is the primary determinant of acute posttraumatic stress disorder (PTSD) symptoms, pre-existing personality patterns may be the primary contributors to the development of chronic PTSD symptomatology. The authors postulate that of the multiple personality factors that influence behavior and response to traumatic events, relational capacity or the ability to sustain interpersonal relationships provides an overarching construct for understanding the contribution of social contextual factors to post-trauma response. The results of this exploratory study support the authors' hypothesis that relational capacity is a significant factor in explaining persistent PTSD symptoms in a sample of adult women who have been raped. Significant correlations were found between measures of relational capacity, the Bell Object Relations Inventory and the Inventory of Interpersonal Problems and measures of distress, the Posttraumatic Symptom Scale, and the Beck Depression Inventory.

The Objective Behavioral Index: a measure for assessing treatment response of patients with severe personality disorders.

A measure that captures the frequency and intensity of experienced dysfunctional behaviors as well as the use of mental health services was developed and tested as part of a treatment controlled trial of patients with borderline personality disorder. The Objective Behavioral Index (OBI) was completed by 136 subjects with the diagnosis of borderline personality disorder before random assignment to treatment and by 35 subjects at each follow-up point. With one exception, the OBI subindexes (Dysfunctional Behaviors and Service Utilization) were not intercorrelated nor were they associated with any of the other patient status measures. Both of the OBI subindexes were sensitive to change after a course of psychotherapy. The OBI measurement system is easy to use and provides important information about behavioral dysfunction and service utilization. Also, contrary to expectations, service utilization is not associated with patient symptomatic and behavioral status.

The contribution of group cohesion and group alliance to the outcome of group psychotherapy.

The contribution to outcome of two group-process factors, group cohesion and group therapeutic alliance, was tested in the context of a randomized, controlled treatment trial for borderline personality disorder. Group members from four time-limited groups of an experimental model of group psychotherapy completed measures of group cohesion and group alliance at prespecified intervals across the 30-session therapy. Outcome was measured in terms of psychiatric symptoms, social adaptation, and indicators of behavioral dysfunction. The results showed that cohesion and alliance were correlated significantly and separately contributed to outcome on most of the dependent measures. Stepwise regression analyses showed, however, that when compared with cohesion, alliance accounted for more outcome variance on the dependent measures. The clinical implications of the findings and the limitations of the study are discussed.

Emotion processing in borderline personality disorders.

The aim of this study was to examine the ways in which adults with borderline personality disorder (BPD) experience and manage their feelings. Responses of 30 subjects who met the criteria for BPD on the Structured Clinical Interview for DSM-III-R were compared with 40 non-BPD controls on the following measures of emotion processing and affect regulation: 1) level of emotional awareness, 2) capacity to coordinate mixed valence feelings, 3) accuracy at identifying facial expressions of emotion, and 4) intensity of response to negative emotions. The results showed significant differences between the two groups on all measures. The borderlines showed significantly lower levels of emotional awareness, less capacity to coordinate mixed valence feelings, lower accuracy at recognizing facial expressions of emotion, and more intense responses to negative emotions than the nonborderline controls. The findings corroborate clinical observations of borderline patients' difficulties in regulating emotions. The implications of the results for the therapeutic management of BPD patients are discussed.

Severity as a diagnostic dimension of borderline personality disorder.

The purpose of this study was to identify diagnostic and severity subgroups within a cohort of patients with borderline personality disorder (BPD). Of 171 patients clinically diagnosed with BPD, 132 were Diagnostic Interview for Borderlines (DIB) positive. Through a process of random selection, 41 of the DIB positive subjects were also interviewed with the revised version of the DIB (DIBR) and approximately one half with two semi-structured research interviews, the Schedule for Affective Disorders (SADS) and the Personality Disorder Examination (PDE). All subjects completed four self-report measures of problematic behaviours, symptoms and social adaptation. The analyses included examination of: 1. the correspondence of the BPD diagnosis across the DIB, the DIBR and the PDE; 2. the association between DIBR scoring levels and scores on measures of symptoms and behavioural status; and 3. the co-occurrence of BPD with Axis I and other Axis II disorders. Correlations and analyses of variance between both the DIB and DIBR scoring levels and the scores on the four symptom and behavioural measures showed that the scoring levels (DIB 7 to 10; DIBR 8 to 10) could be used to distinguish three subgroups of BPD. The three groups differed in terms of concordance for BPD with the PDE and in terms of patterns of overlap with DSM-III-R, Axis I and other Axis II disorders. This study shows that BPD subgroups can be located on a continuum of symptomatic and behavioural severity and that each subgroup has a specific pattern of overlap with Axis I and other Axis II disorders.

The assessment of ego development in borderline personality disorders.

The purpose of the study was to assess levels of ego functioning in a cohort of patients who met the criteria for borderline personality disorder. The Sentence Completion Test (SCT) and the Descriptions of Significant Others (DSO) test were used to measure dimensions of ego maturity. The borderline patients' responses on the SCT were compared with the responses of an outpatient sample of psychiatric patients and with general population norms established for the test. The scores on the SCT for a selected subgroup of five subjects were compared with their scores on the DSO. Contrary to expectation, the responses on the SCT by those with borderline personality disorder did not differ from those for the psychiatric outpatient sample or the general population norms. However the within-group comparisons between the SCT and the DSO for the subgroup of five subjects showed comparable trends between tests. Discussion of the results focuses on the interpretations of the borderline patients' responses to the two tests. Emphasis is placed on the need to distinguish subsets of ego functions, which can be assessed separately using a variety of measurement strategies.

Group and family treatments for borderline personality disorder.

The authors review clinical and empirical studies on the effectiveness of group treatments and family-marital treatments for borderline patients. These studies support the use of the group format in treating borderline patients, but no empirical study has examined whether group treatment combined or sequenced with individual treatment, or individual treatment alone, is better than group treatment alone. Empirical studies of family interventions with borderline patients are lacking, but further research is warranted, since many studies have shown that family pathology, especially physical and sexual abuse, is related to the development of borderline pathology.

The power of the therapeutic relationship.

A review of the psychotherapy research literature of the last decade shows that considerable advances of clinical significance have been made toward defining and measuring components of the treatment relationship. The relevance of the therapeutic alliance for predicting outcome in diverse models of treatment is emphasized, and the implications of the findings for clinical training, practice, and research are discussed.

Object representations in descriptions of significant others: a methodological study.

The aim of this methodological study was to extend Blatt, Wein, Chevron, and Quinlan's (1979) coding system for assessing levels of mental representations of others. Blatt devised a system for scoring spontaneous descriptions of parental figures on a scale that spanned five levels of object differentiation. A single level score was assigned. In this study a procedure was developed to generate scores for each of five representational levels, for two object descriptions, for each subject. The new procedure was based on the assumption that in each individual, all levels of differentiation are maintained albeit in varying proportions. The new coding method was tested in a contrast study in which the responses of a cohort of borderline patients were compared with those of a cohort of nonpsychiatric subjects. As predicted, all subjects were assigned scores at all five representational levels; however, the borderlines had a higher proportion of content units in the lower, least differentiated levels of object representation, and the nonpsychiatric subjects had higher scores at the more differentiated, conceptually complex levels. Results of the psychometric properties of the coding method are discussed. Work in progress to refine the method is outlined.

A comparison of three measures for the diagnosis of borderline personality disorder.

Three instruments for diagnosing borderline personality disorder were administered to 22 outpatients. There was poor concordance among the indexes for the identification of the disorder, and more than half of the sample received more than two DSM-III axis II diagnoses.

Time-limited, group psychotherapy for borderline patients.

Preparation for treatment, group process and time boundaries are presented as components of a treatment model designed to respond to specific problems inherent in the nature of borderline personality disorder. A pilot study of the proposed treatment model is underway and one case illustration from this study is described to illustrate the adaptation to this treatment of a borderline patient with an extensive prior history of individual treatment.

People in your life. Development of a social support measure for predicting psychotherapy outcome.

A scale was developed to assess psychiatric patients' perceptions of the quality and quantity of supportive relationships. The measure's psychometric properties were assessed in an initial study in which 500 subjects (divided between psychiatric patients and nonpatients) completed the 23-item scale. The results showed good subscale alpha coefficients, test-retest reliability, and face and construct validity. Differences in patients' and nonpatients' perceptions of social support were examined. The influence of demographic factors on both groups' responses to the support measure were assessed. In a second study, the support scale's concurrent and predictive validity were tested. Forty-two patients treated in brief, dynamic psychotherapy completed the scale pre- and posttreatment. Patients' perceptions of supportive relationships pretreatment were associated with pretreatment self-report ratings of symptoms and social adjustment and posttreatment changes in social adjustment. Also, posttreatment responses on the support measures were significantly more positive than were pretreatment perceptions of the quantity and quality of social support.

The measurement of subjective response to stressful life events.

A scale was developed to assess subjective responses to stressful life events. Over 400 subjects (divided between psychiatric patients and nonpatients) completed the 14-item response-to-stress scale for events perceived as personally important. Optimal scale item weights were assigned on the basis of Nishisato's dual scaling procedure. Four items, typically associated with responses to stress, did not contribute to the item-weight solution and were dropped from the scale. Factor analyses showed that responses to stress loaded on one bipolar factor composed of four emotional distress items and six control-management items. In contrast to previous methods developed to assess response to stress, there was less than 4% overlap between the subjective response to stress mean scores and the total number of events endorsed by each subject. Also, the correlations between simple event counts and symptom index scores were smaller than those between the subjective stress-response scores and the symptom variable. The influence of demographic factors on both the patients' and nonpatients' responses to stress were analyzed.

Three viewpoints on the therapeutic alliance. Similarities, differences, and associations with psychotherapy outcome.

This study tested three systems for measuring patient and therapist contributions to the therapeutic relationship. Scales with parallel dimensions were used by patients, therapists, and clinician judges to rate the same therapy hours. The sample consisted of 42 patients selected on specific criteria for their suitability for brief psychotherapy (20 sessions). They were treated by experienced psychodynamic therapists and therapeutic change was assessed by six outcome measures. Similarities and differences between the three perspectives of the alliance and their association with outcome were examined. There were significant correlations between patients', therapists', and nonparticipant judges' ratings of the patients' positive and negative contributions and the therapists' positive contributions, but no agreement between the three perspectives in their estimates of therapists' negative contributions. Within each measurement system, patients' and therapists' positive contributions to the relationship were the best predictors of outcome. In conclusion, the results suggest that the patients' and therapists' ratings of the treatment relationship, although influenced by subjective bias, agree to some extent with the nonparticipant judges' ratings and are more powerful in predicting the outcome of psychotherapy.

Analysis of emotional status during the hospital treatment of a borderline patient.

This single case study illustrates a methodology for identifying recurrent pathological emotional states in a hospitalized, borderline patient. Parallel therapeutic inputs are delineated and examined in terms of patient-specific responses. The results indicate that ratings of nursing notes recorded across three periods of hospitalization can reliably isolate the patient's most salient and debilitating emotional states. State-specific therapeutic interventions are extracted and their effectiveness noted. The analyses illustrate clinical phenomena which are congruent with what is known about borderline symptomatology. In addition, the study locates therapeutic errors which often occur when working with difficult patients.

Prediction of outcome of brief psychotherapy from therapist interpretive interventions.

This study replicated Malan's 1976 analysis of psychodynamic interpretations and corrected the major methodological fault in his work: the use of therapist notes for rating the interpretive elements. In this study, the sessions of 25 patients treated in brief dynamic psychotherapy were audiotaped and the ratings of the interpretive interventions were made directly from the audiotapes. Malan's findings were supported. There was a positive association between more favorable outcome, measured on five psychodynamic scales, and the frequency with which therapist interpretations referred to emotions experienced in the transference relationship that were similar to those experienced in relationships with parents and other important persons. The results of this replication indicate that these therapist-offered explanations about the meanings of significant current and past interpersonal relationships contribute to the outcome of brief psychotherapy.

Psychotherapy practice and research: the interface.

The study of the psychotherapeutic process presents special problems to clinicians and clinician investigators. In the absence of supportive, working relationships between the therapist, patient and investigator, important data about therapeutic transactions cannot be obtained. In addition, we are lacking methodologies for isolating the significant therapeutic factors which explain variations in the outcome of psychotherapy. These problems need to be jointly addressed by clinicians and investigators if we are to advance the theory and practice of psychotherapy.

Therapeutic alliance scales: development and relationship to psychotherapy outcome.

The authors describe the development of patient and therapist alliance scales and their application to the therapies of selected patients with good and poor outcomes following brief psychodynamic psychotherapy. They focus on therapist and patient contributions to the attitudinal-affective climate of the therapy rather than on specific therapist techniques. The findings support the value of separating the contributions to the therapeutic alliance made individually by the therapist and the patient. Only the patient's contribution to the therapeutic alliance was predictive of outcome. Patients who developed and maintained positive attitudes toward the therapist and the work of therapy achieved the greatest gains.

Methodological issues in the content analysis of brief psychotherapy.

This is a report of a study which extended D. Malan's methodology for examining three factors typically present in the interpretative work of brief psychotherapy. In his work, the higher incidence of two factors (transference-parent link) were found to correlate with a favourable outcome. In this study operational definitions for defence, anxiety and impulse, the conflict factors associated with interpretive work, were developed and tested on Malan's original data. All cases were rated on six factors (Malan's original person-factors plus the additional conflict factors) and their interlinkages. In the 22 cases the rating scheme applied to more than 95 per cent of all interpretations. Malan's findings were replicated. Problems in deriving this complex rating scheme were delineated and directions for future work were outlined.