Delay and poor diagnosis of Down syndrome in KwaZulu-Natal, South Africa: A retrospective review of postnatal cytogenetic testing

Background. Down syndrome (DS) is the most common chromosomal disorder in newborns. Until 20 years ago DS was considered rare in black African children in South Africa (SA). Lack of awareness of DS on the part of medical staff in SA, and difficulty in diagnosing it, appear to persist.Objectives. To establish an epidemiological profile of DS and investigate the ability of clinicians in KwaZulu-Natal Province (KZN), SA, to make accurate clinical diagnoses of DS.Methods. Records at the South African National Blood Service cytogenetic laboratory in Pinetown, KZN, were examined for all tests for clinically suspected DS undertaken during January 2009 - December 2013 and all cytogenetically proven DS test results. Age at diagnosis, the hospital from where the test was sent and type of chromosomal pattern for each confirmed DS test result were recorded.Results. Of a total of 1 578 tests requested, 875 confirmed DS, indicating that clinicians correctly clinically diagnosed DS 55.4% of the time. The average age of cytogenetic diagnosis of DS was 1 year and 20 days. The minimum population prevalence of DS was 0.8/1 000.Conclusions. The diagnosis of DS is a challenge in KZN, potentiating missed opportunities for early intervention. The relatively low population prevalence of DS may be attributable to a lack of confirmatory cytogenetic tests or missed clinical diagnoses. It may also be attributable to a high mortality rate for children with DS in the province

Consensus Recommendation for Mouse Models of Ocular Hypertension to Study Aqueous Humor Outflow and Its Mechanisms.

Due to their similarities in anatomy, physiology, and pharmacology to humans, mice are a valuable model system to study the generation and mechanisms modulating conventional outflow resistance and thus intraocular pressure. In addition, mouse models are critical for understanding the complex nature of conventional outflow homeostasis and dysfunction that results in ocular hypertension. In this review, we describe a set of minimum acceptable standards for developing, characterizing, and utilizing mouse models of open-angle ocular hypertension. We expect that this set of standard practices will increase scientific rigor when using mouse models and will better enable researchers to replicate and build upon previous findings

Measuring the Expertise of Paediatric Rehabilitation Therapists

This article describes the development of a classification system to measure the expertise levels of practicing paediatric rehabilitation therapists. Seventy-five therapists from five disciplines (physical, occupational, speech-language, behaviour, and recreational therapy) were involved, along with 170 peers, and 188 parents of children with disabilities. A cluster analysis of 10 indicators of expertise (derived from a battery of self-completed, peer-completed, and parent-completed measures) indicated three levels of therapist expertise—novice, intermediate, and expert. Expertise level was related to various aspects of experience but not to therapy discipline. The classification system will be useful for the education and professional development of paediatric therapists, and for research on expertise in paediatric rehabilitation

The Development of Expertise in Pediatric Rehabilitation Therapists: Changes in Approach, Self-knowledge, and Use of Enabling and Customizing Strategies

PURPOSE: To examine the clinical decision making of novice, intermediate, and expert pediatric rehabilitation therapists from various disciplines. METHODS: Two qualitative studies were conducted. Thirteen therapists took part in a study using the critical incident interview technique and 11 therapists took part in a study using the \u27think aloud\u27 technique. Therapists were classified as novice, intermediate, or expert in developmental level based on a cluster analysis of data collected using a multifaceted battery of assessment tools. Data were analyzed using a grounded theory approach. RESULTS: Expert and intermediate therapists differed from novices with respect to content, self-, and procedural knowledge. CONCLUSION: With increasing expertise, therapists use a supportive, educational, holistic, functional, and strengths-based approach; have heightened humility yet increased self-confidence; and understand how to facilitate and support client change and adaptation by using principles of engagement, coherence, and manageability. Expert therapists use enabling and customizing strategies to ensure a successful therapeutic session, optimize the child\u27s functioning in the mid-term, and ensure child and family adaptation and accommodation over the longer-term