1/6. Investigation of a cryptic interstitial duplication involving the Prader-Willi/angelman syndrome critical region.A 3-year-old female referred with developmental delay, hypotonia and seizures was found to have a cryptic interstitial duplication of the Prader-Willi/Angelman critical region (PWACR). Her clinical features form part of a common phenotype characteristic of PWACR duplications including developmental delay, behavioural problems and speech difficulties. Microsatellite analysis showed that the duplication had arisen de novo, was maternal in origin and involved the entire 4-Mb PWACR between the common deletion breakpoints. The existence of cryptic rearrangements emphasises the need for molecular tests alongside conventional cytogenetics when investigating abnormalities involving this imprinted region.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
2/6. hysteria following brain injury.Of 167 patients referred to a unit treating severe behaviour disorders after brain injury, 54 showed clinical features closely resembling those of gross hysteria as described by Charcot. Close correlation was found with very diffuse insults (hypoxia and hypoglycaemia), but not with severity of injury or with family or personal history of hysterical or other psychiatric disorder. The findings may have implications for the understanding of the nature of hysteria.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
3/6. Failure of metacontrol: breakdown in behavioural unity after lesion of the corpus callosum and inferomedial frontal lobes.A right-handed man suffered aneurysmal haemorrhage with lesions of the genu and body of the corpus callosum and the inferomedial frontal lobes bilaterally (right more than left). He exhibited remarkable breakdown in behavioural unity characterized by conflict between the two sides of the body, actions inconsistent with verbalizations, and internal conflict over control of the left hand. A major feature of the deficit was its temporal variability. This is interpreted as reflecting intermittent failure of metacontrol processes, which are neural mechanisms for maintaining behavioural unity. Medial frontal structures and their interconnections through the corpus callosum appear particularly important in the maintenance of metacontrol.- - - - - - - - - - ranking = 6keywords = behaviour (Clic here for more details about this article) |
4/6. A woman who couldn't speak: report of methotrexate neurotoxicity.The association between methotrexate therapy and idiosyncratic neurological complications is well recognised in children. This case illustrates the importance of considering the diagnosis of methotrexate toxicity in an adult patient with behavioural and speech disturbances, who received it by intrathecal route only and in whom the only indicator was an abnormal electroencephalographic study.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
5/6. The Rett condition--broad clinical variability--a case report over three decades.A forme fruste Rett variant female with partially preserved speech remnants is described. She was first seen by the author at an age of 4 years. She then presented with an unspecific syndrome of moderate mental retardation. At follow-up when aged 32 she had successively through the years developed a number of Rett characteristic abnormal behavioural patterns and neurologic deviations, together convincingly indicating a rett syndrome. However, this has been discrete and atypical in original presentation and first apparent in the long term clinical profile. It is underlined that a whole battery of Rett peculiarities appearing with age should be present to allow diagnostic accuracy.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
6/6. Using differential reinforcement to treat functional hypophonia in a paediatric rehabilitation patient.Behaviour analysis studies have demonstrated the use of operant procedures for treating symptoms of psychiatric disorders. These symptoms are usually caused or maintained by a variety of variables including specific organic mechanisms, yet most can be modified by environmental social contingencies. In this case study, data is presented on a 16 year-old male admitted to a rehabilitation hospital following the onset of polymyositis. This patient also presented with functional hypophonia and met the DSM-IV diagnostic criterion for a conversion disorder. In conjunction with the medical team and a speech pathologist, a behavioural programme was developed and implemented to shape and differentially reinforce increasingly complex vocalizations. Results were evaluated using a moving treatment, multiple baseline across responses design. Differential reinforcement in the form of written and verbal feedback was effective in shaping normal speech. The protocol was applied comprehensively across staff and settings. Results are discussed in terms of basic behavioural research on 'learned non-use'.- - - - - - - - - - ranking = 2keywords = behaviour (Clic here for more details about this article) |