1/13. Genetic factors in human sleep disorders with special reference to Norrie disease, prader-willi syndrome and Moebius syndrome.Sleep-wake problems are common in specific inborn errors of metabolism and structure of the central nervous system. Psychological factors, behavioural difficulties, metabolic disturbances, and widespread rather than focal damage to the nervous system are present in many of these diseases and all influence the sleep-wake cycle. However, a number of conditions cause relatively focal damage to the neuroanatomical substrate of sleeping and waking. These include fatal familial insomnia, with involvement of the prion protein gene on chromosome 20, Norrie disease, the prader-willi syndrome and the Moebius syndrome. The last three important conditions, although rare, are considered in detail in this review. They result in sensory deprivation, hypothalamic and mid-brain damage, and involve the X-chromosome, chromosome 15, and chromosome 13, respectively. These conditions cause a wide variety of sleep disturbance, including parasomnias, daytime sleepiness, and a condition like cataplexy. The place of the relevant gene products in normal sleep regulation needs further exploration.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
2/13. Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype.We report on a boy with a maternal uniparental disomy for chromosome 14 (UPD(14)). At 7 years of age he was referred to us by the paediatrician because of symptoms of prader-willi syndrome (PWS). He showed short stature, obesity, mild developmental delay, cryptorchidism, and some mild dysmorphic features. The history further indicated intrauterine growth retardation at the end of the pregnancy. His mother was 44 years of age at the time of his birth. After birth he showed hypotonia with poor sucking, for which gavage feeding was needed. Motor development was delayed. After 1 year he became obese despite a normal appetite. Recurrent middle ear infections, a high pain threshold, and a great skill with jigsaw puzzles were reported. There were no behavioural problems or sleep disturbance. Chromosomal analysis was normal (46,XY). dna analysis for prader-willi syndrome showed no abnormalities. Two years later he was re-examined because we thought his features fitted the PWS-like phenotype associated with maternal UPD(14). At that time precocious puberty was evident. dna analysis showed maternal heterodisomy for chromosome 14. In all the previously described 11 cases with maternal UPD(14), a Robertsonian translocation involving chromosome 14 was detected cytogenetically before dna analysis. This is the first report of diagnosis of maternal UPD(14) based on clinical features. This finding underlines the importance of dna analysis for maternal UPD(14) in patients with a similar PWS-like phenotype even without previous identification of a Robertsonian translocation involving chromosome 14.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
3/13. 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) |
4/13. 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) |
5/13. Familial prader-willi syndrome: case report and a literature review.prader-willi syndrome (PWS) is a neurobehavioural disorder arising through a number of different genetic mechanisms. All involve loss of paternal gene expression from chromosome 15q11q13. Although the majority of cases of PWS are sporadic, precise elucidation of the causative genetic mechanism is essential for accurate genetic counselling as the recurrence risk varies according to the mechanism involved. A pair of siblings affected by PWS is described. Neither demonstrates a microscopically visible deletion in 15q11q13 or maternal disomy. methylation studies at D15S63 and at the SNRPN locus confirm the diagnosis of PWS. Molecular studies reveal biparental inheritance in both siblings with the exception of D15S128 and D15S63 where no paternal contribution is present indicating a deletion of the imprinting centre. Family studies indicate that the father of the siblings carries the deletion which, he has inherited from his mother. The recurrence risk for PWS in his offspring is 50%.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
6/13. Topiramate attenuates self-injurious behaviour in prader-willi syndrome.Self-injurious behaviour (SIB), most notably skin picking, has been described by various terms in the literature ranging from neurotic/psychogenic excoriations to compulsive/pathological skin picking. prader-willi syndrome (PWS) is a neurogenetic multisystem disorder characterized by infantile hypotonia, mental retardation, short stature, hypogonadism, dysmorphic features, and hyperphagia with a high risk of obesity. Psychiatric manifestations include SIBs in the form of skin picking, nail biting and rectal gouging. Topiramate is a novel anti-epileptic medication without significant liability of weight gain. There are no published reports of topiramate being utilized in PWS or SIB. We report attenuation of SIB with resultant lesion healing in three PWS adults treated with topiramate in an 8-wk open-label trial. Although our findings should be treated with caution, they suggest that double-blind or cross-over studies with topiramate are warranted to establish the possible role of topiramate in attenuating SIB in PWS and other disorders that involve SIB.- - - - - - - - - - ranking = 5keywords = behaviour (Clic here for more details about this article) |
7/13. growth hormone treatment in a girl with Prader Willi syndrome.Prader Willi syndrome (PWS) is a rare endocrine-metabolic disorder that is characterised by neonatal hypotonia, hyperphagia, marked obesity, short stature, hypogonadism and behavioural problems. 7-20% percent of these children develop diabetes mellitus. A large number of individuals with PWS show growth hormone (GH) deficiency. Recent studies indicate beneficial effects of GH replacement therapy not only for their linear growth but also for correction of metabolic dysfunction. In the present communication this article details about the therapeutic outcome in a girl with PWS who received recombinant growth hormone (rGH), Genotropin. Some carry-over therapeutic benefits have been observed even after discontinuation of rGH.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
8/13. A paternally inherited duplication in the Prader-Willi/angelman syndrome critical region: a case and family study.The Prader-Willi/Angelman Critical Region (PWACR; Chromosome 15q11-13) is of interest as a potential locus for genes conferring susceptibility to autism spectrum disorders (ASD). This report describes a female proband referred for evaluation of a possible ASD. Genetic analyses indicated that the proband, her father and one of her sisters, carried a paternally derived interstitial duplication involving 15q11-13. The proband showed evidence of ASD (PDD-NOS), borderline mental retardation, mild hypotonia and joint laxity. Her father and her sister were of normal intelligence and neither was thought to have an ASD, although speech/language difficulties and some autistic type behaviours were reported to have been present early in the development of the sister. This is one of the first reports of a child with a paternal duplication and an autism spectrum disorder. More research is required to determine whether paternally derived duplications that involve 15q11-13 are associated with developmental impairments.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
9/13. Between control and freedom in the care for persons with prader-willi syndrome: an analysis of preferred interventions by caregivers.OBJECTIVE: The present study examined caregivers' preferences for intervention strategies in dealing with the dilemma of respecting autonomy of intellectually disabled persons versus providing high-quality care. methods: Twenty-four parents and 14 professional caregivers of persons with prader-willi syndrome were asked to rate four different kinds of intervention strategies according to their preferred way of dealing with 8 presented cases. RESULTS: In general, caregivers preferred to intervene more actively in eating problems compared to behavioural problems, more in acute than in chronic situations, and more in situations at home than in community-based settings. Significant differences were found between parents and professionals. CONCLUSION: parents and professionals prefer intervening above laissez-faire. parents prefer active intervention stronger than professionals. PRACTICE IMPLICATIONS: awareness of various intervention strategies can help caregivers to develop a practice that does justice to the need for intervention on the one hand, and the possibility of using a variety of intervention strategies on the other hand. communication about intervention strategies might foster understanding between professional caregivers and parents and improve mutual cooperation.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
10/13. Development of a young man with prader-willi syndrome and secondary functional encopresis.A case review of a twenty-two year old man suffering from prader-willi syndrome, Secondary Functional encopresis, mental retardation and aggressive behaviour is presented. Emphasis is made in assessing this man from various developmental perspectives. This includes: personality development, cognitive development, physical abilities, sexual development and family life stage. The role of a psychiatrist in treating this complex problem is established. An eclectic approach to treatment is reviewed using many therapeutic modalities found effective with the mentally handicapped. These modalities include: group therapy, play therapy, individual psychotherapy, behavioural therapy, family therapy, and use of medication. A literature review of prader-willi syndrome is included.- - - - - - - - - - ranking = 2keywords = behaviour (Clic here for more details about this article) |
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