1/84. Unreported RSK2 missense mutation in two male sibs with an unusually mild form of coffin-lowry syndrome.An unreported missense mutation of the ribosomal S6 kinase 2 (RSK2) gene has been identified in two male sibs with a mild form of coffin-lowry syndrome (CLS) inherited from their healthy mother. They exhibit transient severe hypotonia, macrocephaly, delay in closure of the fontanelles, normal gait, and mild mental retardation, associated in the first sib with transient autistic behaviour. Some dysmorphic features of CLS (in particular forearm fullness and tapering fingers) and many atypical findings (some of which were reminiscent of FG syndrome) were observed as well. The moderate phenotypic expression of this mutation extends the CLS phenotype to include less severe mental retardation and minor, hitherto unreported signs. The missense mutation identified may be less deleterious than those previously described. As this mutation occurs in a protein domain with no predicted function, it could be responsible for a conformational change affecting the protein catalytic function, since a non-polar amino acid is replaced by a charged residue.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
2/84. diagnosis and treatment of a severe psychotic illness in a man with dual severe sensory impairments caused by the presence of Usher syndrome.The present paper reports the case history of a 50-year-old man born with Usher syndrome, who developed a psychotic illness later in life, to illustrate the specific diagnostic problems, and the value of direct observation and a detailed assessment of communication. The subject had had a significant hearing impairment since birth, problems with balance and developed retinitis pigmentosa, leaving him with progressively limited vision in adult life. A pattern of bizarre and aggressive behaviour, and a disintegration in his ability to communicate using signs developed over 3 months. An initial diagnosis of depression was made, but it later became clearer that the subject had developed a psychotic illness. This condition responded well to a combination of antidepressant and antipsychotic medication. The possible association between Usher syndrome and psychotic illness is also discussed.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
3/84. Psychiatric inpatients and chromosome deletions within 22q11.2.Velocardiofacial syndrome (VCFS) is a congenital disorder characterised by multiple dysmorphisms, cleft palate, cardiac anomalies, and learning disabilities due to a microdeletion of chromosome 22q11.2. Although VCFS is often associated with psychiatric symptoms, its prevalence among psychiatric patients is unknown. A total of 326 patients admitted in September and October 1997 to a Japanese psychiatric hospital were screened for the clinical features of VCFS. Twelve patients with minor facial dysmorphia were identified; chromosomal analysis with fluorescent in situ hybridisation (FISH) was performed in six patients who, further assessment suggested, were most likely to have VCFS. Chromosome 22q11.2 deletion was identified in a 41 year old woman who had symptoms of schizophrenia but no major dysmorphia, such as cardiovascular anomalies and cleft palate. Her behavioural and neuropsychological profiles were similar to those previously reported in VCFS. She was hemizygous for the FISH probe N25 (GDB locus D22S75) and also for probes N72H9 (D22S181), sc11.1a, C443 (D22S941), sc4.1 (D22S134), sc11.1b, N19B3 (D22S264), N122B5 (D22S934), and N77F7 (D22S939). The size of the deletion was about 3 Mb. Our patient had only some features of VCFS including a square nasal root, hypernasal speech, and hypoparathyroidism. She did, however, have the common larger deletion of type A. This finding suggests that psychiatric symptoms in VCFS can occur without major developmental symptoms such as cardiovascular anomalies and cleft palate. Additional patients with schizophrenia may have subtle features of VCFS which are unrecognised on routine medical examinations.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
4/84. female genital self-mutilation, dysorexia and the hysterical personality: the Caenis Syndrome.A detailed case report of female genital self-mutilation associated with dysorexia and the hysterical personality is presented. This lends support to recent literature that has suggested the possibility that these clinical features may comprise a discrete syndrome. The usefulness of considering this triad as a syndrome is illustrated by its facilitating the recall of two previous patients who in retrospect appear to fulfil these criteria. It is suggested that the name Caenis syndrome be given to this triad of behaviour.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
5/84. Oral self-mutilation in a patient with rhombencephalosynapsys.Rhombencephalosynapsis (RS) is a rare cerebellar malformation. Its essential features are the absence of the incisura cerebelli posterior, fusion of the cerebellar hemispheres, the absence of the velum medullare anterius and nuclei fastigii, and fusion of the dentate nuclei, which are shifted towards the mid-line. Clinically, affected patients present with signs of cerebellar and motor disturbances. The present report describes a new patient affected by RS. The subject first presented at the age of 22 years because of a psychiatric symptomatology which was characterized by obsessive oral self-mutilation associated with an intellectual disability. Objective evaluation documented dysmorphic features, while neurological examination showed only a slight truncal ataxia. The subject's IQ was 74 on the Wechsler Scale (verbal IQ = 79, performance IQ = 74). Psychiatric evaluation with DSM-IV criteria documented an obsessive-compulsive personality disorder associated with emotional instability and oral self-mutilation. The typical picture of rhombencephalosynapsis was evident on magnetic resonance imaging. Both chromosomal analysis and routine biochemical investigations were normal. The relationship between oral self-injurious behaviour and cerebellar malformations is discussed with particular regard to the behavioural aspects of cerebellar congenital pathology in affective disorders and in autism.- - - - - - - - - - ranking = 2keywords = behaviour (Clic here for more details about this article) |
6/84. Neuropsychological consequences of cerebellar tumour resection in children: cerebellar cognitive affective syndrome in a paediatric population.Acquired cerebellar lesions in adults have been shown to produce impairments in higher function as exemplified by the cerebellar cognitive affective syndrome. It is not yet known whether similar findings occur in children with acquired cerebellar lesions, and whether developmental factors influence their presentation. In studies to date, survivors of childhood cerebellar tumours who demonstrate long-term deficits in cognitive functions have undergone surgery as well as cranial irradiation or methotrexate treatment. Investigation of the effects of the cerebellar lesion independent of the known deleterious effects of these agents is important for understanding the role of the cerebellum in cognitive and affective development and for informing treatment and rehabilitation strategies. If the cerebellar contribution to cognition and affect is significant, then damage in childhood may influence a wide range of psychological processes, both as an immediate consequence and as these processes fail to develop normally later on. In this study we evaluated neuropsychological data in 19 children who underwent resection of cerebellar tumours but who received neither cranial irradiation nor methotrexate chemotherapy. Impairments were noted in executive function, including planning and sequencing, and in visual-spatial function, expressive language, verbal memory and modulation of affect. These deficits were common and in some cases could be dissociated from motor deficits. Lesions of the vermis in particular were associated with dysregulation of affect. Behavioural deficits were more apparent in older than younger children. These results reveal that clinically relevant neuropsychological changes may occur following cerebellar tumour resection in children. Age at the time of surgery and the site of the cerebellar lesion influence the neurobehavioural outcome. The results of the present study indicate that the cerebellar cognitive affective syndrome is evident in children as well as in adults, and they provide further clinical evidence that the cerebellum is an essential node in the distributed neural circuitry subserving higher-order behaviours.- - - - - - - - - - ranking = 2keywords = behaviour (Clic here for more details about this article) |
7/84. Three young children with smith-magenis syndrome: their distinct, recognisable behavioural phenotype as the most important clinical symptoms.We report on the development and behaviour of three young children with smith-magenis syndrome (SMS), del 17p11.2. The behaviour problems and the psychomotor delay in preschool children with SMS are often more striking than the dysmorphic features and can serve as a useful clue to the diagnosis. We compare the behaviour with reported data. The behaviour problems in the three four year olds include very demanding behaviour, severe temper tantrums, hyperactivity, aggressive behaviour, self injurious behaviour, sleeping problems and stereotypic behaviour. head banging, hand, wrist or finger biting are present. Onychotyllomania is not observed. Insertion of objects in the mouth as well as excessive nose picking is very frequent, although polyembolokoilomania is not present. The so called self hug when excited is present in one child. The behaviour problems and psychomotor delay represent a major management problem for the parents.- - - - - - - - - - ranking = 13keywords = behaviour (Clic here for more details about this article) |
8/84. The hyponatraemic hypertensive syndrome in a 2-year-old child with behavioural symptoms.In this case report we present a 2-year-old girl with the classical signs of the hyponatraemic hypertensive syndrome. She initially presented with a history of behavioural abnormalities and hyponatraemia (126 mmol/l) and her blood pressure was as high as 220/160 mmHg. After admission, somnolence developed. Intravenous anti-hypertensive therapy was started immediately. The hyponatraemia was treated with i.v. sodium supplementation. The cause of this syndrome proved to be fibromuscular dysplasia of the left renal artery. Finally, a left nephrectomy was performed. With this therapy, blood pressure and serum sodium normalised and the girl promptly regained normal consciousness and behaviour. CONCLUSION: Behavioural abnormalities in the history of a child without any other neurological symptoms might be one of the first signs of hypertensive encephalopathy. In combination with hyponatraemia, these symptoms should alert the physician to consider the hyponatraemic hypertensive syndrome.- - - - - - - - - - ranking = 6keywords = behaviour (Clic here for more details about this article) |
9/84. Prader-Willi psychiatric syndrome and Velo-Cardio-Facial psychiatric syndrome.Prader-Willi psychiatric syndrome and Velo-Cardio-Facial psychiatric syndrome: Similar to the studies on behavioural phenotypes, it is suggested to more rigorously promote the investigation of psychopathological phenotypes. The psychopathological profile in patients with prader-willi syndrome (PWS) or Velo-Cardio-Facial Syndrome (VCFS) appears to be not classifiable within the current nosological systems. On a descriptive level, PWS-psychotic states show similarities with the cycloid psychoses, but VCFS psychosis does not. It is therefore advocated to adopt the notion of a brain-structure phenotype as well as that of a syndrome-specific psychiatric disorder.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
10/84. Selective impairment of verb processing associated with pathological changes in Brodmann areas 44 and 45 in the motor neurone disease-dementia-aphasia syndrome.We report six patients with clinically diagnosed and electrophysiologically confirmed motor neurone disease (MND), in whom communication problems were an early and dominant feature. All patients developed a progressive non-fluent aphasia culminating in some cases in complete mutism. In five cases, formal testing revealed deficits in syntactic comprehension. comprehension and production of verbs were consistently more affected those that of nouns and this effect remained stable upon subsequent testing, despite overall deterioration. The classical signs of MND, including wasting, fasciculations and severe bulbar symptoms, occurred over the following 6-12 months. The behavioural symptoms ranged from mild anosognosia to personality change implicating frontal-lobe dementia. In three cases, post-mortem examination has confirmed the clinical diagnosis of MND-dementia. In addition to the typical involvement of motor and premotor cortex, particularly pronounced pathological changes were observed in the Brodmann areas 44 (Broca's area) and 45. The finding of a selective impairment of verb/action processing in association with the dementia/aphasia syndrome of MND suggests that the neural substrate underlying verb representation is strongly connected to anterior cortical motor systems.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
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