This controlled trial of a parent management intervention aimed to increase parental competence in management of problem behaviours associated with Asperger syndrome. The intervention compared two formats, a 1 day workshop and six individual sessions. Measures were taken on three occasions: pre-intervention, at 4 weeks, and at 3 month follow-up. Variables of interest were number and intensity of problem behaviours, and parent evaluation of social interaction skills. Results showed parents reporting fewer and lower intensity of problem behaviours and increased social interactions at 4 weeks and 3 months. Results held across formats and suggest that parent management training can provide an effective intervention for parents of a child with Asperger syndrome. Group differences on outcome measures and in the use of strategies are discussed along with limitations of the study.
Friedreich's ataxia (FRDA) is the most common hereditary ataxia, affecting about 1 in 50,000 individuals. It is caused by mutations in the frataxin gene; 98% of cases have homozygous expansions of a GAA trinucleotide in intron 1 of the frataxin gene. The remaining 2% of patients are compound heterozygotes, who have a GAA repeat expansion in one allele and a point mutation in the other allele. FRDA patients with point mutation have been suggested to have atypical clinical features. We present a case of compound heterozygotes in a FRDA patient who has a deletion of one T in the start codon (ATG) of the frataxin gene and a GAA repeat expansion in the other allele. The patient presented with chorea and subsequently developed FRDA symptoms. The disease in this case is the result of both a failure of initiation of translation and the effect of the expansion. This novel mutation extends the range of point mutations seen in FRDA patients, and also broadens the spectrum of FRDA genotype associated with chorea.
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