Exploring distraction and the impact of a child life specialist: Perceptions from nurses in a pediatric setting.

PURPOSE: The purpose of this study is to explore perceptions held by nurses on the use of distraction and the role of a child life specialist in caring for children undergoing painful procedures. DESIGN AND METHODS: A qualitative focus-group design was conducted with 18 nurses from a 24-bed pediatric unit in New South Wales, Australia; this represented 51% of the staff from the unit. Three focus groups were conducted and transcribed verbatim followed by thematic analysis. RESULTS: Findings revealed five main themes that reflected the perceptions of the nurses' use of distraction and the impact of the child life specialist. The theme "Distraction as part of everyday nursing practice" was viewed by nurses as an integral component of nursing practice. The theme "Influence of child life specialist" revealed that the child life specialist created a feeling of ease during procedures. Differences were acknowledged between the two roles, "Contrast of roles" the child life specialist was seen as positive for children and families, whereas nurses viewed themselves as mean and unkind due to the nature of their work. The theme "The value of collaboration for positive healthcare experiences" acknowledged distraction as a contributing factor in ensuring the child and their family had a positive healthcare experience. The types of "nurses perception of the child's experience with distraction" shared in each of the focus groups identified nurses felt their techniques for distraction were much more simplified than the child life specialist; nurses felt disadvantaged at times in not having access to the same tools. PRACTICE IMPLICATIONS: The findings indicate the positive impact that a child life specialist has on a nurse's role while caring for children undergoing painful procedures. Nurses felt they were able to focus on the procedure, therefore ensuring the physician received the right amount of assistance. This reassured the nurses in knowing the child and their families emotional needs were being taken care of. The child life specialist was viewed as being able to provide a positive healthcare experience for the child and families, nurses felt this added to the value of care provided in the pediatric unit. Recommendations include further exploration of the child life specialist role in the pediatric inpatient setting.

A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype.

BACKGROUND: AUTS2 syndrome is an 'intellectual disability (ID) syndrome' caused by genomic rearrangements, deletions, intragenic duplications or mutations disrupting AUTS2. So far, 50 patients with AUTS2 syndrome have been described, but clinical data are limited and almost all cases involved young children. METHODS: We present a detailed clinical description of 13 patients (including six adults) with AUTS2 syndrome who have a pathogenic mutation or deletion in AUTS2. All patients were systematically evaluated by the same clinical geneticist. RESULTS: All patients have borderline to severe ID/developmental delay, 83-100% have microcephaly and feeding difficulties. Congenital malformations are rare, but mild heart defects, contractures and genital malformations do occur. There are no major health issues in the adults; the oldest of whom is now 59 years of age. Behaviour is marked by it is a friendly outgoing social interaction. Specific features of autism (like obsessive behaviour) are seen frequently (83%), but classical autism was not diagnosed in any. A mild clinical phenotype is associated with a small in-frame 5' deletions, which are often inherited. Deletions and other mutations causing haploinsufficiency of the full-length AUTS2 transcript give a more severe phenotype and occur de novo. CONCLUSIONS: The 13 patients with AUTS2 syndrome with unique pathogenic deletions scattered around the AUTS2 locus confirm a phenotype-genotype correlation. Despite individual variations, AUTS2 syndrome emerges as a specific ID syndrome with microcephaly, feeding difficulties, dysmorphic features and a specific behavioural phenotype.