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Recently DNA sequencing analysis has played a vital role in the unambiguous diagnosis of clinically suspected patients with Duchenne Muscular Dystrophy (DMD). DMD is a monogenic, X-linked, recessive, degenerative pediatric neuromuscular disorder affecting males, invariably leading to fatal cardiopulmonary failure. Early and precise diagnosis of the disease is an essential part of an effective disease management strategy as care guidelines and prevention through counseling need to be initiated at the earliest particularly since therapies are now available for a subset of patients. In this manuscript we report the DMD gene mutational profiles of 961 clinically suspected male DMD patients, 99% of whom were unrelated. We utilized a molecular diagnostic approach which is cost-effective for most patients and follows a systematic process that sequentially involves identification of hotspot deletions using mPCR, large deletions and duplications using MLPA and small insertions/ deletions and point mutations using an NGS muscular dystrophy gene panel. Pathogenic DMD gene mutations were identified in 84% of patients. Our data compared well with the frequencies and distribution of deletions and duplications reported in the DMD gene in other published studies. We also describe a number of rare in-frame mutations, which appeared to be enriched in the 5' proximal hotspot region of the DMD gene. Furthermore, we identified a family with a rare non-contiguous deletion mutation in the DMD gene where three males were affected and two females were deemed carriers. A subset of patients with mutations in the DMD gene who are likely to benefit therapeutically from new FDA and EMA approved drugs were found in our cohort. Given that the burden of care for DMD patients invariably falls on the mothers, particularly in rural India, effective genetic counseling followed by carrier screening is crucial for prevention of this disorder. We analyzed the carrier status of consented female relatives of 463 probands to gauge the percentage of patients with familial disease. Our analysis revealed 43.7% of mothers with DMD gene mutations. Our comprehensive efforts, involving complete genetic testing coupled with compassionate genetic counseling provided to DMD patients and their families, are intended to improve the quality

This paper describes the training of physiotherapists as community based rehabilitation (CBR) team members to assist persons with disabilities living in Papua New Guinea (PNG). At Divine Word University (DWU), PNG, a unique physiotherapy training programme integrates CBR into the curriculum and trains students to analyse and understand the basic needs of individuals with disability, and meet these needs within the scope of national and international policies. Community visits and clinical placements familiarise the students with the true situation of persons with disabilities. The specific outcome of the CBR unit is that students learn how to think critically and address the main issues faced by persons with disabilities and communities in the education, health, social, empowerment and livelihood domains. CBR plays a major role in assisting and promoting basic services for persons with disabilities within the limited resources available in countries like PNG. The authors conclude that equipping physiotherapy students with CBR skills will eventually lead to improvement in service delivery.

ABSTRACT

A multidisciplinary approach is required to manage the child with meningitis. Adequate knowledge, resources and assistance about the condition among the health professionals, carers and teachers would enable the children to achieve the quality of life.