The interactions between patient preferences, expectancies, and stigma contribute to posttraumatic stress disorder treatment outcomes.

Cognitive processing therapy (CPT) is an effective treatment for posttraumatic stress disorder (PTSD); however, some patients do not improve to the same extent as others. It is important to understand potential factors that can be modified for better patient outcomes. This clinical trial implemented a three-arm, equipoise-stratified randomization design to allow for the accommodation of patient preference before randomization to one of three CPT treatment modalities: in-home, in-office, or telehealth. This study examined whether satisfaction with the modality, perceived stigma, expectations of therapy, and credibility of the therapist differed between modalities and whether these factors impacted treatment outcomes. We hypothesized that the contributions of these variables would depend upon whether participants opted out of any treatment arms and that these factors would predict treatment outcomes. Participants who endorsed less perceived stigma demonstrated larger reductions in PTSD symptom severity than those with similar levels of perceived stigma in the telehealth and in-office conditions, η2 = .12-.18. Participants who endorsed lower satisfaction with their treatment modality and were assigned to the in-home condition experienced larger PTSD symptom reductions than those with similar dissatisfaction in the telehealth and in-office conditions, η2 = .20. The results show the robustness of evidence-based therapies for PTSD given that dissatisfaction did not impede treatment success. In addition, they demonstrate that it is important for clinicians to address stigma before initiating evidence-based therapies for PTSD. Strategies to address these factors are discussed.

In-office, in-home, and telehealth cognitive processing therapy for posttraumatic stress disorder in veterans: a randomized clinical trial.

BACKGROUND: Trauma-focused psychotherapies for combat-related posttraumatic stress disorder (PTSD) in military veterans are efficacious, but there are many barriers to receiving treatment. The objective of this study was to determine if cognitive processing therapy (CPT) for PTSD among active duty military personnel and veterans would result in increased acceptability, fewer dropouts, and better outcomes when delivered In-Home or by Telehealth as compared to In-Office treatment. METHODS: The trial used an equipoise-stratified randomization design in which participants (N = 120) could decline none or any 1 arm of the study and were then randomized equally to 1 of the remaining arms. Therapists delivered CPT in 12 sessions lasting 60-min each. Self-reported PTSD symptoms on the PTSD Checklist for DSM-5 (PCL-5) served as the primary outcome. RESULTS: Over half of the participants (57%) declined 1 treatment arm. Telehealth was the most acceptable and least often refused delivery format (17%), followed by In-Office (29%), and In-Home (54%); these differences were significant (p = 0.0008). Significant reductions in PTSD symptoms occurred with all treatment formats (p < .0001). Improvement on the PCL-5 was about twice as large in the In-Home (d = 2.1) and Telehealth (d = 2.0) formats than In-Office (d = 1.3); those differences were statistically large and significant (d = 0.8, 0.7 and p = 0.009, 0.014, respectively). There were no significant differences between In-Home and Telehealth outcomes (p = 0.77, d = -.08). Dropout from treatment was numerically lowest when therapy was delivered In-Home (25%) compared to Telehealth (34%) and In-Office (43%), but these differences were not statistically significant. CONCLUSIONS: CPT delivered by telehealth is an efficient and effective treatment modality for PTSD, especially considering in-person restrictions resulting from COVID-19. TRIAL REGISTRATION: ClinicalTrials.gov ID NCT02290847 (Registered 13/08/2014; First Posted Date 14/11/2014).

Secondary individual outcomes following multicouple group therapy for posttraumatic stress disorder: An uncontrolled pilot study with military dyads.

Cognitive-behavioral conjoint therapy (CBCT) for posttraumatic stress disorder (PTSD) has demonstrated efficacy for improving PTSD and comorbid symptoms and relationship adjustment. To enhance treatment efficiency and scalability, we developed a 2-day, abbreviated, intensive, multicouple group version of CBCT for PTSD (AIM-CBCT for PTSD). Prior work demonstrated that AIM-CBCT for PTSD wasassociated with reductions in PTSD and comorbid symptoms in a sample of 24 post-9/11 active duty military or veteran couples who received the treatment in a retreat format over a single weekend. The current study investigated secondary outcomes regarding trauma-related cognitions, psychosocial impairment, and insomnia. For trauma-related cognitions, reductions were nonsignificant and small at 1-month follow-up, ds = -0.14 to -0.32. However, by 3-month follow-up, there were significant, medium effect size reductions in total trauma-related cognitions, d = -0.68, and negative views of self and others, ds = -0.64 and -0.57, respectively, relative to baseline. There was also a nonsignificant, small-to-medium effect-size reduction in self-blame, d = -0.43, p = .053, by 3-month follow-up. For psychosocial impairment, there were significant and medium-to-large and large effect size reductions by 1- and 3-month follow-ups, ds = -0.73 and -0.81, respectively. There were nonsignificant, small effect size reductions in insomnia at both 1- and 3-month follow-ups relative to baseline, ds = -0.30 and -0.34, respectively. These findings suggest that AIM-CBCT for PTSD is associated with reductions in maladaptive posttraumatic cognitions and psychosocial impairment but that adjunctive interventions may be needed to address insomnia.

A Closer Examination of Relational Outcomes from a Pilot Study of Abbreviated, Intensive, Multi-Couple Group Cognitive-Behavioral Conjoint Therapy for PTSD with Military Dyads.

Cognitive-behavioral conjoint therapy for posttraumatic stress disorder (CBCT for PTSD) is associated with improvements in patients' PTSD symptoms, partners' psychological distress, and relationship satisfaction. However, little is known about whether CBCT for PTSD is associated with changes in other relationship domains that have theoretical and clinical relevance to the relational context of PTSD. The current study is a secondary analysis of relational outcomes from an uncontrolled, within-group trial designed to examine whether an abbreviated, intensive, multi-couple group version of CBCT for PTSD (AIM-CBCT for PTSD) delivered in a retreat during a single weekend was associated with improvements in PTSD symptoms and relationship satisfaction. In this investigation, we examined whether AIM-CBCT for PTSD is also associated with improvements in ineffective arguing, supportive dyadic coping by partner, joint dyadic coping, and partners' accommodation of patients' PTSD symptoms. Participants were 24 couples who included a post-9/11 U.S. service member or veteran with PTSD. At 1- and 3-month follow-up, patients reported significant reductions in couples' ineffective arguing (ds = -.71 and -.78, respectively) and increases in supportive dyadic coping by partners relative to baseline (ds = .50 and .44, respectively). By 3-month follow-up, patients also reported significant increases in couples' joint dyadic coping (d = .57), and partners reported significant reductions in their accommodation of patients' PTSD symptoms (d = -.44). Findings suggest that AIM-CBCT for PTSD is associated with improvements in multiple relationship domains beyond relationship satisfaction but that these may be differentially salient for patients and partners.

La terapia cognitivo-conductual conjunta para el trastorno por estrés postraumático (TCC para el TEPT) está asociada con mejoras en los síntomas de TEPT de los pacientes, en el distrés psicológico de sus parejas y en la satisfacción con la relación. Sin embargo, se sabe poco acerca de si la TCC para el TEPT está asociada con cambios en otros aspectos de la relación que son de interés teórico y clínico para el contexto relacional del TEPT. El presente estudio es un análisis secundario de los resultados relacionales de un ensayo intragrupal no controlado diseñado para analizar si una versión grupal multipareja, intensiva y abreviada de la TCC para el TEPT (MIA-TCC para el TEPT) practicada en un retiro durante un solo fin de semana estuvo asociada con mejoras en los síntomas de TEPT y en la satisfacción con la relación. En esta investigación, analizamos si la MIA-TCC para el TEPT también está asociada con mejoras en las discusiones ineficaces, en el afrontamiento diádico comprensivo de la pareja del paciente, en el afrontamiento diádico conjunto y en la adaptación de las parejas de los pacientes a sus síntomas de TEPT. Los participantes fueron 24 parejas en las que había un miembro o veterano de las Fuerzas Armadas de los Estados Unidos que prestó servicio con posterioridad al 11/9 y que tenía TEPT. En el seguimiento del mes y de los tres meses, los pacientes informaron reducciones significativas de las discusiones ineficaces de la pareja (ds = -0.71 y -0.78, respectivamente) y aumentos del afrontamiento diádico comprensivo de sus parejas en relación con el momento basal (ds = 0.50 y 0.44, respectivamente). En el seguimiento de los tres meses, los pacientes también informaron aumentos significativos del afrontamiento diádico conjunto de las parejas (d = 0.57), y sus parejas informaron reducciones significativas de su adaptación a los síntomas de TEPT de los pacientes (d = -0.44). Los resultados sugieren que la MIA-TCC para el TEPT está asociada con mejoras en varios aspectos de las relaciones aparte del de la satisfacción en la pareja, pero que estos pueden tener una importancia diferente para los pacientes y sus parejas.

The Role of Posttraumatic Growth in a Randomized Controlled Trial of Cognitive-Behavioral Conjoint Therapy for PTSD.

Posttraumatic growth (PTG) is defined as a positive psychological change that can emerge following a traumatic life event. Although documented in noninterventional studies of traumatized individuals, there are scant data on the potential for therapy to induce or improve PTG. Thus, the primary goal of this study was to examine changes in PTG in a controlled trial of cognitive-behavioral conjoint therapy for posttraumatic stress disorder versus waitlist (CBCT for PTSD; Monson & Fredman, 2012). We also examined whether pretreatment relationship satisfaction and PTSD symptomatology moderated change in PTG. There were 40 couples (75% with a female partner with PTSD) who were randomized to either immediate CBCT for PTSD or a 3-month waitlist (WL). Compared to WL, individuals who received treatment immediately demonstrated a significant increase in PTG. There was a moderate effect size between-group difference (Hedge's g = 0.45). There was a nonsignificant relationship with a moderate effect size (Hedge's g = 0.65) for the positive effect of pretreatment relationship satisfaction on the trajectory of PTG, but no effect of pretreatment PTSD symptoms. Results suggested that CBCT for PTSD facilitated PTG, even with a limited focus on PTG in this conjoint intervention. Future research should target PTG as a treatment goal and further examine the role of close others in facilitating development of PTG.

How can educators support general practice (GP) trainees to develop resilience to prevent burnout?

CONTEXT: Burnout impacts adversely on professional and personal life, and holds implications for patient care. Current research on burnout mainly focuses on established general practitioners but it is unclear how early the signs of burnout really start. This work seeks to identify whether specific GP trainee groups are particularly at risk of burnout and the aspects of training they find stressful. METHODS: A longitudinal cohort study, collecting qualitative and quantitative data through a single mode of data collection (questionnaire) took place with trainees from all GP training years (ST1-3), across a vocational training scheme (n = 48). Data gathered included the Oldenburg Burnout Inventory (OLBI). RESULTS: Higher than anticipated levels of burnout were displayed by all trainees. A sub-group self reporting higher levels of burnout comprised all-female, UK-trained-at-undergraduate GP trainees, with a partner but no children. Top reported stressors included knowledge/uncertainty, workload/time pressures and ePortfolio. Less than 50% of trainees perceived their burnout levels to be as high as their OLBI showing potential lack of insight. CONCLUSIONS: This research demonstrates that high levels of burnout are experienced in GP trainees as early as the first year of training. Early identification of burnout amongst trainees is essential by GP educators to help protect the future GP workforce.

Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date.

We describe a patient with a 1.34 Mb microdeletion at chromosome band 17q22, which is also present in his affected mother. To better delineate this microdeletion syndrome, we compare the clinical and molecular characteristics of 10 previously reported cases and our patient. Of these, the present patient has the smallest deletion which includes five genes: MMD, TMEM100, PCTP, ANKFN1, and NOG. We compare the clinical manifestations described in relation to NOG, since this is the only gene whose loss is shared by our patient and the other eight patients. Previously, the clinical patterns associated with NOG mutations have been included under the general term "NOG-related symphalangism spectrum disorder (NOG-SSD)." Based on our analyses, and considering that there is a clinical correlation observed in cases with a "17q22 microdeletion including NOG" of which the main characteristics can be contributed to loss of this gene, we propose that the clinical patterns observed in these patients should be named as NOG-spectrum disorder-contiguous gene syndrome (NOGSD-CGS). This designation is important for clinicians because when a patient has defects concordant with alterations of NOG but also presents other anomalies not related to this gene, they would be able to suspect the existence of a microdeletion affecting 17q22, therefore, allowing an early diagnosis. This will also enable the clinician to provide the family with adequate information about the prognosis and the risk of reoccurrence in future potential offspring.

Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome.

Warburg-Micro syndrome (WARBM) is an autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy and central nervous system malformations. This syndrome is caused by mutations in the RAB3GAP1/2 and RAB18 genes, part of the Rab family, and in the TBC1D20 gene, which contributes to lipid droplet formation/metabolism. Here we present a patient with clinical diagnosis of WARBM syndrome, who did not have mutations in either the RAB3GAP1/2 genes, in the main exons of RAB18, nor in the TBC1D20 gene. However, the analysis with CGH-array detected a 9.6 Mb deletion at 1q43-qter. We performed a genotype-phenotype correlation using 20 previously published patients in whom the coordinates of the deleted regions were defined. The comparative analysis revealed that the current patient and three of the other 20 patients share the loss of six genes, four of which are related with the family of G proteins, and are strongly expressed in the brain, retina, heart and kidney. Consequently, their haploinsufficiency may result in different combinations of clinical alterations, including some of those of WARBM syndrome. In addition, the haploinsufficiency of other genes may contribute to other defects and clinical variability. Additionally, for the genotype-phenotype correlation, one must also consider molecular pathways that can result in the observed alterations. To early confirm a genetic diagnosis is essential for the patient and family. The current patient was considered as having a recessive syndrome, but since he had a "de novo" deletion, there was not an increased recurrence risk.

Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome.

In 2005, we reported on a family as having Frías syndrome (OMIM: 609640), with four affected members displaying a pattern of congenital defects nearly identical to those observed in a mother and son described by Frias [Frías et al. (1975). Birth Defects Orig Artic Ser 11:30-33]. These defects included growth deficiency, facial anomalies, and hand and foot alterations. We had the opportunity to study this family again due to the birth of another affected girl, who presented with similar facial characteristics to those of her elder half-sister and the rest of affected relatives, which consisted of mild exophthalmia, bilateral palpebral ptosis, downslanting palpebral fissures, and hypertelorism. We performed array-CGH, which identified an identical interstitial deletion of chromosome 14q22.1-q22.3 in the mother and two daughters. The deletion is 4.06 Mb in length and includes the BMP4 gene, a member of the bone morphogenetic protein (BMP) family of secreted proteins. A review of the literature showed that deletions or mutations of this gene underlie congenital defects affecting brain, eye, teeth, and digit development. Although the clinical manifestations of the current family correlate with the defects observed in patients having either 14q22-q23 deletions or mutations of BMP4, they show a milder phenotype. In order to understand the clinical variability, we evaluated the already known functional characteristics of the BMP gene members. This gene family plays an important role during early embryogenesis, and the complex synergistic functions and redundancies of the BMPs led us to conclude that haploinsufficiency of BMP4 is likely to be responsible for the clinical expression of Frías syndrome.

Interstitial deletion 14q22.3-q23.2: genotype-phenotype correlation.

The increasing use of molecular tools in genetic diagnosis has produced a surge in the detection of genomic imbalances. Among the growing number of newly discovered chromosome alterations are the interstitial deletions 14q21-q23. In previous reports of this deletion, the patients appear to share ocular defects, pituitary alterations and hand/foot anomalies. Here, we present a 12-year-old girl with dysmorphic face, choanal atresia, gastroesophageal reflux, and moderate developmental delay, in whom an interstitial deletion 14q22.3-q23.2 was detected using a 180k array comparative genome hybridization. The 6.5 Mb deletion contains 27 genes, including three genes of the SIX family: SIX1, SIX4, and SIX6. In mammals, Six1 has been shown to be involved in ocular differentiation, whereas Six4 and Six6 are primarily expressed in the hypothalamus, pituitary gland, and facial bones. We used data on mouse embryos to evaluate the expression of the SIX genes, as well as other representative genes lost in the current patient and a previously published case with a similar phenotype, in order to correlate their pattern of expression with the functional anomalies that constitute the patient's phenotype. We also explored the possibility of other genetic influences, such as the existence of an imprinted region in chromosome 14q, which may provide a better understanding of the observed clinical variability.

Associations between functioning and PTSD symptom clusters in a dismantling trial of cognitive processing therapy in female interpersonal violence survivors.

This study conducted secondary analyses of a published trial and sought to determine if different domains of psychosocial functioning (e.g., daily living, work, nonfamily relationships) improved following trauma-focused treatment for posttraumatic stress disorder (PTSD). Cognitive processing therapy (CPT), an empirically supported treatment that involves evaluating trauma-related beliefs and written trauma accounts, was compared to its components: CPT without the written accounts or written accounts only in a sample of 78 women with PTSD secondary to interpersonal violence. Overall and individual domains of functioning significantly improved with treatment and results were similar across treatment groups, Fs (2, 150) ≥ 11.87, ps < .001. Additionally, we investigated whether changes in different PTSD symptom clusters were associated with outcomes in domains of psychosocial functioning, after collapsing across treatment condition. Multiple hierarchical linear regression analyses revealed that overall clinician-assessed PTSD symptom reduction was associated with outcomes in all domains of functioning, ßs = .44 to .68, ps < .001. Additionally, improvements in the emotional numbing symptom cluster were associated with outcomes in the nonfamily relationships domain, ß = .42, p < .001, and improvements in the hyperarousal symptom cluster were associated with outcomes in the overall, daily living, and household tasks domains, ßs = .34 to .39, ps < .01. Results suggest that it may be important to monitor improvements in emotional numbing and hyperarousal symptoms throughout treatment to increase the likelihood of changes in psychosocial functioning.

Effects of cognitive-behavioral conjoint therapy for PTSD on partners' psychological functioning.

A number of studies have documented that posttraumatic stress disorder (PTSD) symptoms in "one" partner are negatively associated with their intimate partner's psychological functioning. The present study investigated intimate partners' mental health outcomes (i.e., depression, anxiety, and anger) in a sample of 40 partners of individuals with PTSD within a randomized waitlist controlled trial of cognitive-behavioral conjoint therapy for PTSD (Monson & Fredman, 2012). There were no significant differences between active treatment and waitlist in intimate partners' psychological functioning at posttreatment. Subgroup analyses, however, of partners exhibiting clinical levels of distress at pretreatment on several measures showed reliable and clinically significant improvements in their psychological functioning at posttreatment and no evidence of worsening. Results suggest that cognitive-behavioral conjoint therapy for PTSD may have additional benefits for partners presenting with psychological distress.

Health-Related Quality of Life Using the KIDSCREEN-27 Questionnaire among Adolescents with High Myopia.

Background/Objectives: The aim of the study was to explore Health-Related Quality of Life (HRQoL) using the KIDSCREEN-27 questionnaire among adolescents with high myopia (HM). Methods: Sixty-nine adolescents with HM and 71 healthy participants aged 12-17 years and their parents or legal guardians were enrolled in the study. Results: Adolescents with HM showed significantly lower scores on the Physical Well-Being dimension in comparison with controls (p = 0.003), particularly girls with HM in comparison with girls from the control group (p = 0.008), and 15-17-year-old adolescents in comparison with same-aged controls (p = 0.020). Girls with HM were characterised by significantly worse scores on the Psychological Well-Being dimension compared with boys with HM (p < 0.042). Sociodemographic factors and refractive error, its duration, and acceptance of disease had no impact on HRQoL. Conclusions: HM may have a negative impact on the HRQoL of children, affecting particularly the physical and psychological well-being of girls. It is important that a holistic approach to the treatment of HM in adolescents is taken by measuring their HRQoL as part of the routine diagnostic process. Use of the KIDSCREEN-27 questionnaire seems justified as it allows for determination of the type of intervention required to improve the HRQoL of individuals affected by the disease.

Design of a randomized clinical trial of brief couple therapy for PTSD augmented with intranasal oxytocin.

BACKGROUND: Leveraging military veterans' intimate relationships during treatment has the potential to concurrently improve posttraumatic stress disorder (PTSD) symptoms and relationship quality. Cognitive-Behavioral Conjoint Therapy (CBCT) and an 8-session Brief Cognitive-Behavioral Conjoint Therapy (bCBCT) are manualized treatments designed to simultaneously improve PTSD and relationship functioning for couples in which one partner has PTSD. Although efficacious in improving PTSD, the effects of CBCT on relationship satisfaction are small, especially among veterans. Intranasal oxytocin, which targets mechanisms of PTSD and relationship quality, may enhance the efficacy of bCBCT. METHOD/DESIGN: The purpose of this 4-year clinical trial is to compare the outcomes of bCBCT augmented with intranasal oxytocin versus bCBCT plus placebo. We will also explore potential mechanisms of action: self-reported communication skills, empathy, and trust. We will recruit 120 dyads (i.e., veteran with PTSD and their intimate partner) from the VA San Diego Healthcare System. Veterans will be administered 40 international units of oxytocin (n = 60) or placebo (n = 60) 30 min before each of 8 bCBCT sessions delivered via telehealth. Clinical and functioning outcomes will be assessed at five timepoints (baseline, mid-treatment, post-treatment, and 3- and 6-month follow-up). CONCLUSION: Study findings will reveal the efficacy of oxytocin-assisted brief couple therapy for PTSD, which could serve as highly scalable option for couples coping with PTSD, as well as provide preliminary evidence of interpersonal mechanisms of change. CLINICALTRIALS: govIdentifier:NCT06194851.

Pretreatment relationship characteristics predict outcomes from an uncontrolled trial of intensive, multicouple group PTSD treatment.

Cognitive behavioral conjoint therapy for posttraumatic stress disorder (CBCT for PTSD; Monson & Fredman, 2012) is associated with improvements in patients' and partners' mental health and relationship satisfaction. Some pretreatment relationship characteristics have predicted CBCT for PTSD outcomes for patients, but findings were limited to a single community sample consisting primarily of female patients with male partners. A better understanding of whether pretreatment relationship characteristics predict outcomes in other patient populations and whether there are partners who may be particularly responsive to couple therapy for PTSD could optimize treatment matching. This study investigated whether pretreatment partner accommodation and relationship satisfaction predicted patient and partner treatment outcomes from an uncontrolled trial of an abbreviated, intensive, multicouple group version of CBCT for PTSD conducted with 24 active-duty military or veteran couples (96% male patients/female partners). In general, changes in patients' PTSD and comorbid symptoms and relationship satisfaction did not vary by pretreatment partner accommodation or patients' own pretreatment relationship satisfaction. In contrast, pretreatment relationship characteristics predicted partner outcomes. Partners who engaged in higher levels of accommodation pretreatment and partners who reported lower levels of pretreatment relationship satisfaction experienced greater declines in psychological distress following treatment. Also, partners who began the study relationally distressed exhibited significant increases in relationship satisfaction following treatment, whereas those who were not relationally distressed did not. Findings suggest that improvements generally do not vary by pretreatment relationship characteristics for patients, whereas partners who begin treatment with elevated relationship risk factors may be especially likely to experience improvement across outcomes. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

Impact and efficiency of treatment across two PTSD clinical trials comparing in-person and telehealth service delivery formats.

The intent of this study is to examine treatment impact and efficiency observed when cognitive behavioral treatments for posttraumatic stress disorder (PTSD) are delivered in-person or using telehealth. This study pooled data from 268 veterans enrolled in two PTSD clinical trials. In both trials, treatment was delivered using in-home telehealth (telehealth arm), in-home in-person (in-home arm), and in-office care, where patients traveled to the Department of Veterans Affairs for either office-based telehealth or office-based in-person care (office arm). Average age was 44 (SD = 12.57); 80.9% were males. The PTSD Checklist for DSM-5 (PCL-5) was used to assess symptom severity. Treatment impact was measured by (a) the proportion of participants who completed at least eight treatment sessions and (b) the proportion with a reliable change of ≥ 10 points on the PCL-5. Treatment efficiency was measured by the number of days required to reach the end point. The proportion of participants who attended at least eight sessions and achieved reliable change on the PCL-5 differed across treatment formats (ps < .05). Participants in the in-home (75.4%) format were most likely to attend at least eight treatment sessions, followed by those in the telehealth (58.3%) and office (44.0%) formats, the latter of which required patients to travel. Participants in the in-home (68.3%, p < .001) format were also more likely to achieve reliable change, followed by those in the telehealth (50.9%) and office (44.2%) formats. There were no significant differences in the amount of time to complete at least eight sessions. Delivery of therapy in-home results in a significantly greater likelihood of achieving both an adequate dose of therapy and a reliable decrease in PTSD symptoms compared to telehealth and office formats. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with Marden-Walker syndrome.

We present a girl with the characteristic clinical picture associated with Marden-Walker syndrome (MWS; OMIM 248700), including mask-like face with blepharophimosis, joint contractures, intellectual disability, a multicystic dysplastic kidney and cerebral dysgenesis. The long-term follow-up allowed us to monitor the evolution of the phenotype in this patient, and among the main findings we highlight the following: demyelination of the pyramidal tract demonstrated by transcranial magnetic stimulation and the involvement of the levator muscles of angle of mouth in fixed facial expression with relative integrity of the rest of the facial expression muscles. A 244 k array comparative genomic hybridization (aCGH) was carried out and showed a de novo interstitial deletion of approximately 2.84 Mb affecting only the cytoband 21q22.11 (genome coordinates chr21:31,874,016-34,711,763). We selected 10 of the most recent published cases with either total or partial deletions of cytoband 21q22.11 that provided good characterization of the genomic size or the genes in the deleted regions. We observed that in nine of the 10 cases the deleted regions included the RUNX1 gene in 21q22.12, which is not affected in the current patient's deletion or in that of Patient 3 from Roberson et al. [2011]. After a comparison of shared deleted genes between cases, and correlation of their potential phenotypes, we concluded that the pattern of defects considered for a diagnosis of MWS may represent part of the phenotypic expression of a partial or total deletion of 21q22.11.

Magnetization Transfer Contrast - Is it Sensitive Enough to Differentiate Demyelination from Axonal Loss?

Background and Objective: Magnetization transfer contrast imaging (MTC) exploits the principle of exchange of energy between the bound and free protons and was shown to be pathologically informative. There is, however, controversy as to whether it correlates with axonal loss (AL), demyelination (DM), or both. This study addresses the pathophysiological process that underlies the white matter injury using the metric derivative of MTC, magnetization transfer ratio (MTR), and defines the role of MTR in identifying the different stages of inflammation, that is, edema, DM, and AL, using optic nerve as the model. Materials and Methods: One hundred and forty-two patients with a single, unilateral episode of optic neuritis (ON) were included in the study. Patients were divided into three groups - those with AL, those with DM, and those who were clinically optic neurites but without any electrophysiological changes suggestive of either AL or DM. MTR and electrophysiological studies were performed in the post-acute stage of ON and the results were compared to those obtained from the unaffected optic nerve. Results: MTR was significantly reduced in the optic nerves of both DM and AL groups when compared to that in normal optic nerves (P < 0.001). The difference in MTR between the AL and DM groups did not reach statistical significance. Patient group with acute ON did not show any change in the MTR values compared to the normal controls. Conclusions: MTR is a sensitive technique to identify neuronal injury, whether it is DM or AL. It, however, cannot differentiate these two pathological processes. MTR is not sensitive to identify acute ON.

Changes in social adjustment with cognitive processing therapy: effects of treatment and association with PTSD symptom change.

The current study sought to determine if different spheres of social adjustment, social and leisure, family, and work and income improved immediately following a course of cognitive processing therapy (CPT) when compared with those on a waiting list in a sample of 46 U.S. veterans diagnosed with posttraumatic stress disorder (PTSD). We also sought to determine whether changes in different PTSD symptom clusters were associated with changes in these spheres of social adjustment. Overall social adjustment, extended family relationships, and housework completion significantly improved in the CPT versus waiting-list condition, η(2) = .08 to .11. Hierarchical multiple regression analyses revealed that improvements in total clinician-rated PTSD symptoms were associated with improvements in overall social and housework adjustment. When changes in reexperiencing, avoidance, emotional numbing, and hyperarousal were all in the model accounting for changes in total social adjustment, improvements in emotional numbing symptoms were associated with improvements in overall social, extended family, and housework adjustment (ß = .38 to .55). In addition, improvements in avoidance symptoms were associated with improvements in housework adjustment (ß = .30), but associated with declines in extended family adjustment (ß = -.34). Results suggest that it is important to consider the extent to which PTSD treatments effectively reduce specific types of symptoms, particularly emotional numbing and avoidance, to generally improve social adjustment.