ABSTRACT
By using a literature review, this article examines the implications of achondroplasia. The following areas are discussed: the clinical definition of the disease; the incidence, etiology, and pathogenesis; phenotypical characteristics and natural history of the disease; and management, recurrence risk, and genetic counseling. Lastly, implications for nursing in relation to achondroplasia are discussed.
Subject(s)
Achondroplasia , Neonatal Nursing/education , Achondroplasia/etiology , Achondroplasia/nursing , Achondroplasia/physiopathology , Achondroplasia/therapy , Genetic Counseling , Humans , Infant, NewbornABSTRACT
Achondroplasia, like all syndromes, is recognised by a collection of typical anomalies. It is a cause of short stature; the average adult height being about 4 feet.
Subject(s)
Achondroplasia/nursing , Achondroplasia/diagnostic imaging , Achondroplasia/genetics , Humans , Paternal Age , Self Concept , Social Support , Ultrasonography, PrenatalABSTRACT
AIMS AND OBJECTIVES: To assess psychosocial profiles of children with achondroplasia using a nationwide survey. BACKGROUND: Achondroplasia, showing short stature and disproportionately short limbs, causes physical inconvenience such as difficulty in reaching high objects. It is, however, still controversial whether the condition is associated with psychological problems, especially in childhood. DESIGN: A cross-sectional descriptive design was employed. METHODS: To evaluate psychosocial profiles and adaptation processes in children with achondroplasia, we developed an inventory of scales based on the psychological stress model of which conceptual framework was comprised of stressor, coping process, coping resource and adaptation outcome domains. Participants were recruited nationwide through the largest advocacy support group for achondroplasia in Japan. Of the 130 group members, 73 X-ray-diagnosed patients, aged 8-18 years, completed the inventory of questionnaires to be analysed. RESULTS: As for the stressor domain, patients experienced short stature-related unpleasant experiences more frequently (z-score: +1·3 in average, +3·9 in physical inconvenience). Nevertheless, these experiences had little effect on the coping process (threat appraisal: -0·2, control appraisal: +0·1) and the adaptation outcome (stress response: +0·3, self-concept: 0·0). Interestingly, self-efficacy in the coping resource domain was noticeably increased (+3·1) and was strongly correlated with most variables in the coping process and in adaptation outcome domains. CONCLUSIONS: Although the children with achondroplasia experienced more short stature-related stressors, there was no evidence of any psychosocial maladaptation. This finding suggests that coping process as well as coping resources such as self-efficacy could be important targets for promoting psychological adjustment in children with achondroplasia. RELEVANCE TO CLINICAL PRACTICE: To help children with achondroplasia adapt socially, nurses and other healthcare providers should routinely assess their psychological adaptation process, especially cognitive appraisal and self-efficacy.
Subject(s)
Achondroplasia/psychology , Adaptation, Psychological , Stress, Psychological , Achondroplasia/nursing , Adolescent , Child , Cross-Sectional Studies , Female , Humans , Japan , Male , Pediatric Nursing , Personality Inventory , Self ConceptABSTRACT
We have presented the salient points of managing achondroplastic dwarfs in the operating room. In presenting our experience in dealing with this group of patients we hope that we will make the tasks of those who care for these patients easier and help focus their attention on those problems that are more likely to occur.
