Motor protein mutations cause a new form of hereditary spastic paraplegia

OBJECTIVE: To identify a novel disease gene in 2 families with autosomal recessive hereditary spastic paraplegia (HSP). METHODS: We used whole-exome sequencing to identify the underlying genetic disease cause in 2 families with apparently autosomal recessive spastic paraplegia. Endogenous expression as well as subcellular localization of wild-type and mutant protein were studied to support the pathogenicity of the identified mutations. RESULTS: In 2 families, we identified compound heterozygous or homozygous mutations in the kinesin gene KIF1C to cause hereditary spastic paraplegia type 58 (SPG58). SPG58 can be complicated by cervical dystonia and cerebellar ataxia. The same mutations in a heterozygous state result in a mild or subclinical phenotype. KIF1C mutations in SPG58 affect the domains involved in adenosine triphosphate hydrolysis and microtubule binding, key functions for this microtubule-based motor protein. CONCLUSIONS: KIF1C is the third kinesin gene involved in the pathogenesis of HSPs and is characterized by a mild dominant and a more severe recessive disease phenotype. The identification of KIF1C as an HSP disease gene further supports the key role of intracellular trafficking processes in the pathogenesis of hereditary axonopathies

Midwives' perspectives of their ability to promote the oral health of pregnant women in Victoria, Australia

Background: Midwives have a potential role in promoting the oral health of pregnant women although they have little formal training in this area. The aim of this study was to explore the perspectives of midwives in Victoria towards incorporating oral health promotion into their antenatal practice after undergoing training through the Midwifery Initiated Oral Health (MIOH) online education program. Methods: A purposive sample of thirty-nine midwives from maternity services across Victoria, Australia were invited to participate in an online MIOH education program in October 2012. The program included three self-paced modules covering oral health screening, referral processes, and theoretical and practical skill assessments. A mixed methods design was used to capture midwives perspectives. Evaluation questionnaires, completed pre- and post-training, captured knowledge and confidence (confidence likert scale), and also included five opened-ended questions post-training. Open-ended questions, feedback forms and unsolicited emails formed the data for qualitative analysis. Data were analysed using content and thematic analysis and descriptive statistics. Results: Thirty-three midwives completed the MIOH education program and demonstrated a significant increase (51.5%) in their confidence to promote oral health. All participants viewed the program as suitable, acceptable and useful for their practice and were happy to recommend the course to other Victorian midwives. Participants indicated that it would be feasible to incorporate oral health into the first antenatal booking visit and recognised that oral health promotion was within their scope of practice. Conclusions: This study has shown that the MIOH education program is a valued resource that can assist midwives to increase their confidence and skills to incorporate oral health promotion into their practice. A key barrier identified was time constraints during antenatal care booking visits. However, it is evident that with relevant training it would be feasible and acceptable for Victorian midwives to incorporate oral health promotion within their practice. The current engagement with midwives in Victoria and other parts of Australia provides an opportunity to continue to explore and define the role of antenatal health care professionals in oral health promotion at a state and national level