Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13.

Hallervorden-Spatz syndrome (HSS) (OMIM #234200) is a rare, autosomal recessive neurode-generative disorder with brain iron accumulation as a prominent finding. Clinical features include extrapyramidal dysfunction, onset in childhood, and a relentlessly progressive course. Histologic study reveals massive iron deposits in the basal ganglia. Systemic and cerebrospinal fluid iron levels are normal, as are plasma levels of ferritin, transferrin and ceruloplasmin. Conversely, in disorders of systemic iron overload, such as haemochromatosis, brain iron is not increased, which suggests that fundamental differences exist between brain and systemic iron metabolism and transport. In normal brain, non-haem iron accumulates regionally and is highest in basal ganglia. Pathologic brain iron accumulation is seen in common disorders, including Parkinson's disease, Alzheimer's disease and Huntington disease. In order to gain insight into normal and abnormal brain iron transport, metabolism and function, our approach was to map the gene for HSS. A primary genome scan was performed using samples from a large, consanguineous family (HS1) (see Fig. 1). While this family was immensely powerful for mapping, the region demonstrating homozygosity in all affected members spans only 4 cM, requiring very close markers in order to detect linkage. The HSS gene maps to an interval flanked by D20S906 and D20S116 on chromosome 20p12.3-p13. Linkage was confirmed in nine additional families of diverse ethnic backgrounds.

The rehabilitation of children with spinal cord injury.

Spinal cord injured children have special needs because of their potential for physical, intellectual, psychological and social growth. The overriding goal for comprehensive medical rehabilitation is to provide services required by the child for maximal recovery and to compensate for lost or impaired function while permitting the fullest development of potential in all areas. Because spinal cord injuries in childhood are not common, it is imperative that rehabilitation should be comprehensively coordinated and directed by a single specialist taking overall responsibility for the chronic phase of management. Rehabilitation involves the child and his family, a hospital-based and rehabilitation centre-based team and a school. Every effort must be made to prevent medical and/or physical complications that could interfere with rehabilitation or lead to greater disability.

Rehabilitation of spasticity and related problems in childhood cerebral palsy.

Spasticity is one part of the upper motor neuron syndrome, but it is a widespread problem in cerebral palsy; it is debilitating, affects function and can lead to musculoskeletal complications. Significant advances have occurred in antispasticity management (and related musculoskeletal problems) in children with cerebral palsy during the past 5-10 years. Botulinum toxin A has been the most outstanding treatment advance; it is relatively long-lasting, easy to administer, reversible, has a favourable side-effect profile and is highly useful for focal spasticity. There is an emerging role for intrathecal baclofen in Australia. Despite being available and practised in North America for years, selective dorsal rhizotomy has not been popular in Australia. The use of orthopaedic surgery has significantly altered in recent years. There is still a place for oral drug treatment, including some newer agents and the potential for combination treatment with other modalities. The role of physical therapy in defining disability, assessing function, undertaking biomechanical assessment and providing mobility aids/casting/orthoses and motor training/stretching exercises is critical for the success of medical and surgical interventions. From an Australian perspective, the purpose of the present review is to provide a critical review of therapies available for spasticity associated with childhood cerebral palsy.

Botulinum toxin A versus fixed cast stretching for dynamic calf tightness in cerebral palsy.

OBJECTIVE: To compare botulinum toxin A injections with fixed plaster cast stretching in the management of cerebral palsied children with dynamic (i.e. non-fixed) calf tightness. METHODS: The settings were the Women's and Children's Hospital (WCH) and the Crippled Children's Association of South Australia (CCA), Adelaide, South Australia. Twenty children were selected by two paediatric rehabilitation specialists. A prospective, randomized, single-blind controlled study, was carried out, with 10 children in each arm. The clinicians were blinded as to the allocated interventions. The outcome measures for 6 months post intervention were clinical assessment, modified Ashworth Scale, Gross Motor Function Measure, 2 D-video ratings using a modified Physical Rating Scale and a global scoring scale and a parent satisfaction questionnaire. RESULTS AND CONCLUSION: Botulinum toxin A injections were of similar efficacy to serial fixed plaster casting in improving dynamic calf tightness in ambulant or partially ambulant children with cerebral palsy. The ease of outpatient administration, reduction of muscle tone and safety with botulinum toxin A was confirmed. Parents consistently favoured botulinum toxin A and highlighted the inconvenience of serial casting.