1/4. Odd MECP2-mutated Rett variant-long-term follow-up profile to age 25.A 25-year-old MECP2-mutated female with odd developmental and dyspraxic/ataxic features, followed up through two decades, is reported. She does not fit either the classical rett syndrome or the criteria required for any Rett variant phenotypes so far described. Nevertheless, she belongs clinically to the latter group. This case deserves attention in order, among other things, to provide important clues to better understand the puzzling battery of neuroimpairments and behavioural abnormalities met in classical Rett phenotypes and Rett variants defined thus far.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
2/4. Severe form of thyroid hormone resistance in a patient with homozygous/hemizygous mutation of T3 receptor gene.Resistance to thyroid hormone syndrome (RTH) is a rare disorder, usually inherited as an autosomal dominant trait. patients with RTH are usually euthyroid but can occasionally present with signs and symptoms of thyrotoxicosis or rarely with hypothyroidism. Affected individuals are usually heterozygous for mutations in the thyroid hormone receptor beta gene (TR-beta).We present a patient with RTH found to be homo-/hemizygous for a mutation in the TR-beta gene. The single nucleotide substitution I280S (1123T-->G) was present either on both alleles or in a hemizygous form with complete deletion of the second allele. The I280S mutation was recently reported in a heterozygous patient. The severe phenotype with seriously impaired intellectual development, hyperkinetic behaviour, tachycardia, hearing and visual impairment is probably due to the dominant negative effect of the I280S mutant protein and the absence of any functional TR-beta.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
3/4. Unusual compulsive motor activity during treatment with clothiapine in a mentally retarded adolescent.Atypical antipsychotic agents, specifically those with a high hyposerotonergic activity such as clozapine and clothiapine, have been associated with de novo obsessive-compulsive symptoms. We report the case of a 16-year-old adolescent male with severe mental impairment and disruptive behaviour who developed a compulsive head and body turning disorder on clothiapine. Such a symptom had to be distinguished from epileptic partial seizures; it promptly disappeared with the drug discontinuation.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
4/4. Psychosocial problems in Hunter's syndrome.During a national study of Hunter's syndrome, visits were made to 33 sets of parents who had had a total of 44 affected sons, 27 with the severe, and 17 with the mild, form of the disease. Information about the behavioural pattern in a further 22 boys was obtained from hospital records. Serious behavioural disturbance was reported in 36 of the 38 severely affected boys, in contrast to those mildly affected, who were generally well behaved but often had serious psychological problems. The effects upon the parents of these boys are discussed. A plea is made that all possible long-term support should be offered both to the families and to the boys themselves.- - - - - - - - - - ranking = 2keywords = behaviour (Clic here for more details about this article) |