Hypotonia at Birth: A Case Study of ACTA-1 Mutation, a Congenital Myopathy.

Congenital myopathy is an uncommon neonatal disorder that can manifest in the neonatal period with severe features. Presentation with signs of global hypotonia and respiratory insufficiency are among the classic findings. Rapid diagnosis is essential for medical management and family support. This case study reviews the presentation of hypotonia in the newborn, followed by a path to a diagnosis of nemaline myopathy in the form of an ACTA-1 mutation. This review can aid the clinician in the diagnosis of patients in whom hypotonia is present at birth. Included is a discussion of the incidence, pathophysiology, diagnosis, and management of this devastating disease.

Choosing staff members reduces time in mechanical restraint due to self-injurious behaviour and requesting restraint.

BACKGROUND: Using mechanical restraints to protect a person who engaged in dangerous self-injury was decreased by manipulation of an establishing operation involving the client choosing the staff person who would work with her. MATERIALS AND METHODS: The client was a 28-year-old woman diagnosed with autism, bipolar disorder, static cerebral encephalopathy, moderate intellectual disabilities, hypotonia and musculoskeletal deformities. She had a history of biting herself and further bites could produce irreversible nerve damage. Mechanical restraints were applied when she bit, tried to bite herself or asked for them. RESULTS: When she was allowed to choose staff members, the use of mechanical restraint decreased. CONCLUSION: Reducing the time spent in mechanical restraint by giving the client a choice of staff members who would work with her demonstrates that such a choice may be an establishing operation. The usefulness of cumulative records and scatterplots to evaluate changes in the occurrence of self-injurious behaviour (SIB) and associated mechanical restraint is shown as are the advantages of using alternating treatment designs to assess the effectiveness of treatment conditions for someone who exhibits long-term cyclic behaviour.

The role of the pediatric home healthcare nurse.

The acuity and number of children with life-threatening, life-limiting, and chronic conditions has increased dramatically over the past decade. The pediatric home care nurse needs a special body of knowledge and repertoire of tools to accurately assess, intervene, manage, evaluate, and provide resources to this most vulnerable population. Inherent in caring for these children is the need to support the family, nurturing the parents who care for chronically ill children at home.

La ruptura de Rosa. La aceptacton de la enfermedad congenita / Rosa´s rupture (the acceptance of congenital disease)

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Muscle tone abnormalities.

Rehabilitation nurses frequently encounter clients with neurological disorders that adversely affect muscle tone. By understanding the physiological etiology of abnormal muscle tone, individual practitioners can design nursing interventions for various care settings that appropriately protect clients from injury and that can help clients and caregivers learn effective techniques for managing muscle tone problems. This article explains muscle tone abnormalities in detail and offers insight into how rehabilitation nurses can play a key role in managing clients' alterations in muscle tone.

Vecuronium use in MICU: a quality improvement study.

A multidisciplinary group developed a Quality Improvement program for use of vecuronium in the MICU. In addition to providing JCAHO with a successful QI effort, they changed standards of care and policies for use of paralytic drugs, revised the complication rate and saved a significant amount of money through reduced length of stay and amount of drugs used. In addition, they realized the importance of QI in their practice and the importance of collaboration in conducting quality QI programs.