BRCA1‐associated protein (BAP1)‐inactivated melanocytic tumors

Although discussed using variable terminology, cutaneous BRCA1‐associated protein (BAP1)‐inactivated melanocytic tumor (BIMT) has been considered a discrete diagnostic entity since 2011. Here, we review the initial genomic studies that identified these distinct melanocytic tumors and the clinical and histopathological features that define these tumors. These epithelioid, predominantly dermal, and melanocytic tumors present as erythematous nodules and histopathologically have features that may overlap with Spitz nevi and nevoid melanoma. There is no sex predilection, and cutaneous BIMTs can appear at any age; however, in most familial (germline mutant) cases patients have multiple cutaneous tumors with a first diagnosis in the second or third decade of life; ocular melanoma and other tumors are increasingly identified in these kindreds with germline BAP1 mutation. These tumors have been described with a myriad of terms including: Wiesner nevus, nevoid melanoma‐like melanocytic proliferation (NEMMP), BAP1 mutant Spitz nevus, BAP1 mutant nevoid melanoma, cutaneous BAPoma, and most recently cutaneous BIMT.     

Tinea faciei starting at day two of life

Dermatophyte infections are exceedingly rare in neonates, possibly due to the thin stratum corneum and high sebum content of neonatal skin. Only a handful of cases of tinea faciei have been reported in neonates, with the majority of reports occuring in India. Here, we report what to our knowledge is the earliest reported presentation of tinea faciei in the United States. We also provide a brief literature review of other reported cases of tinea faciei in neonates less than 30 days of age.     

Neuropsychological Assessment of Individuals with Expressive Disabilities in Addition to Traumatic Brain Injuries

Little empirical research has examined guidelines for neuropsychological assessment of people with severe physical and sensory disabilities. This study focused on people with expressive disabilities—people unable to speak, write, draw, or manipulate test materials. Measures were selected and adapted to be suitable for the assessment of cognitive functioning for such people. Responses were selected from multiple choice answers or were spelled out on an alphabet board. Individuals with expressive disabilities in addition to traumatic brain injuiry (TBI) were compared to individuals with TBI alone and a normative group. The measures were generally found to be reliable and valid assessment instruments. Individuals with expressive disabilities were able to manage the task requirements of the adapted tests. The results provided support for the adaptations trialed.     

Test–retest stability,convergent validity,and sensitivity to change for the Goal-Based Outcome tool for adolescents: Analysis of data from a randomized controlled trial

Objective(s)

To examine the psychometric properties of the idiographic Goal-Based Outcome (GBO) tool for young people: test–retest stability, convergent validity, and sensitivity to an intervention.

Methods

This measure validation study used data from a randomized controlled trial of school-based humanistic counseling. We used multilevel analyses to assess test–retest stability, convergent validity of the GBO tool against nomothetic measures of mental wellbeing, and sensitivity to an intervention.

Results

The GBO tool showed acceptable stability over a 6–24 week period; moderate convergent validity with nomothetic measures of mental well-being, self-esteem, and depression; and greater sensitivity to an intervention than a measure of psychological distress.

Conclusions

The GBO tool shows evidence of having acceptable psychometric properties and is suitable for monitoring change on individual goals. It may also have the capacity to function as a population-level indicator of outcomes in conjunction with the use of other measures of mental health and wellbeing.     

Self-advocates with Down syndrome research the lived experiences of COVID-19 lockdowns in Aotearoa New Zealand

Background

Individuals with Down syndrome are particularly vulnerable to COVID-19 because they are recognised as significantly immunocompromised. Yet their voices regarding their lived experiences of pandemic lockdowns have not been sought or heard.

Aim

This study aims to describe the lived experiences of people with Down syndrome during the pandemic lockdowns in Aotearoa New Zealand to add evidence in order to inform systemic advocacy.

Method

A mixed-methods approach positioned within an inclusive research paradigm was used, in which a group of self-advocates with Down syndrome co-designed a structured interview schedule and conducted 40 face-to-face interviews. Key themes were identified by using content analysis.

Results

Despite the difficulties associated with lockdowns and participants not receiving their usual supports and having to make significant adjustments, they remained positive, adapted well, and demonstrated a high level of resilience and adaptability.

Conclusions

The findings add to the limited research on the lived experiences of people with Down syndrome during pandemic lockdowns. This research has given them a voice to contribute to policy, government initiatives, and service providers; particularly on issues around support during lockdown and staying connected with others.