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Träfflista för sökning "WFRF:(Råstam Maria) ;spr:eng"

Sökning: WFRF:(Råstam Maria) > Engelska

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1.
  • Afzelius, Maria, et al. (författare)
  • Parents in adult psychiatric care and their children: a call for more interagency collaboration with social services and child and adolescent psychiatry
  • 2018
  • Ingår i: Nordic Journal of Psychiatry. - : Informa UK Limited. - 0803-9488 .- 1502-4725. ; 72:1, s. 31-38
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: A parental mental illness affects all family members and should warrant a need for support.Aim: To investigate the extent to which psychiatric patients with underage children are the recipients of child-focused interventions and involved in interagency collaboration.Methods: Data were retrieved from a psychiatric services medical record database consisting of data regarding 29,972 individuals in southern Sweden and indicating the patients' main diagnoses, comorbidity, children below the age of 18, and child-focused interventions.Results: Among the patients surveyed, 12.9% had registered underage children. One-fourth of the patients received child-focused interventions from adult psychiatry, and out of these 30.7% were involved in interagency collaboration as compared to 7.7% without child-focused interventions. Overall, collaboration with child and adolescent psychiatric services was low for all main diagnoses. If a patient received child-focused interventions from psychiatric services, the likelihood of being involved in interagency collaboration was five times greater as compared to patients receiving no child-focused intervention when controlled for gender, main diagnosis, and inpatient care.Conclusions: Psychiatric services play a significant role in identifying the need for and initiating child-focused interventions in families with a parental mental illness, and need to develop and support strategies to enhance interagency collaboration with other welfare services.
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2.
  • Depienne, Christel, et al. (författare)
  • Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.
  • 2009
  • Ingår i: Biological Psychiatry. - : Elsevier BV. - 0006-3223. ; 66:4, s. 349-359
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: Maternally derived duplications of the 15q11-q13 region are the most frequently reported chromosomal aberrations in autism spectrum disorders (ASD). Prader-Willi and Angelman syndromes, caused by 15q11-q13 deletions or abnormal methylation of imprinted genes, are also associated with ASD. However, the prevalence of these disorders in ASD is unknown. The aim of this study was to assess the frequency of 15q11-q13 rearrangements in a large sample of patients ascertained for ASD. METHODS: A total of 522 patients belonging to 430 families were screened for deletions, duplications, and methylation abnormalities involving 15q11-q13 with multiplex ligation-dependent probe amplification (MLPA). RESULTS: We identified four patients with 15q11-q13 abnormalities: a supernumerary chromosome 15, a paternal interstitial duplication, and two subjects with Angelman syndrome, one with a maternal deletion and the other with a paternal uniparental disomy. CONCLUSIONS: Our results show that abnormalities of the 15q11-q13 region are a significant cause of ASD, accounting for approximately 1% of cases. Maternal interstitial 15q11-q13 duplications, previously reported to be present in 1% of patients with ASD, were not detected in our sample. Although paternal duplications of chromosome 15 remain phenotypically silent in the majority of patients, they can give rise to developmental delay and ASD in some subjects, suggesting that paternally expressed genes in this region can contribute to ASD, albeit with reduced penetrance compared with maternal duplications. These findings indicate that patients with ASD should be routinely screened for 15q genomic imbalances and methylation abnormalities and that MLPA is a reliable, rapid, and cost-effective method to perform this screening.
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3.
  • Johansson, Maria E I, 1961, et al. (författare)
  • Autism spectrum conditions in individuals with Mobius sequence, CHARGE syndrome and oculo-auriculo-vertebral spectrum: diagnostic aspects.
  • 2010
  • Ingår i: Research in Developmental Disabilities. - : Elsevier BV. - 0891-4222 .- 1873-3379. ; 31:1, s. 9-24
  • Tidskriftsartikel (refereegranskat)abstract
    • As part of multidisciplinary surveys of three Behavioural Phenotype Conditions (BPCs); Möbius sequence (Möbius), CHARGE syndrome (CHARGE) and oculo-auriculo-vertebral spectrum (OAV), autism spectrum conditions (ASCs) was diagnosed in 45%, 68% and 42% of the individuals, respectively. Diagnostic difficulties due to additional dysfunctions such as mental retardation (MR), impaired vision, reduced hearing and cranial nerve dysfunction, were experienced in all three BPC groups. The applicability of current autism diagnostic instruments, such as the Autism Diagnostic Interview-Revised (ADI-R), the Childhood Autism Rating Scale (CARS) and the Autistic Behaviour Checklist (ABC), in individuals with ASCs and Möbius/CHARGE/OAV was analysed. Use of an extensive battery of diagnostic instruments, including both observational schedules and parent interviews, and, if possible, independent judgements from two clinicians, is essential in the diagnostics of ASCs in these individuals. Further, in individuals who are deaf and blind the applicability of current autism diagnostic instruments is highly questionable.
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4.
  • Johansson, Maria E I, 1961, et al. (författare)
  • Autism spectrum disorder and underlying brain mechanism in the oculoauriculovertebral spectrum.
  • 2007
  • Ingår i: Developmental Medicine and Child Neurology. - : Wiley. - 0012-1622 .- 1469-8749. ; 49:4, s. 280-288
  • Tidskriftsartikel (refereegranskat)abstract
    • As part of a multidisciplinary study, the rate of autism spectrum disorder (ASD), learning disability (LD), and brain abnormalities was examined in 20 participants (12 males, 8 females; age range 8mo-17y, mean age 8y 1mo) diagnosed as falling within the oculoauriculovertebral spectrum (OAV). A neuropsychiatric examination was performed, including standardized autism diagnostic interviews. Two individuals met diagnostic criteria for autism, one for autistic-like condition, and five for autistic traits. Four patients had mild LD, three severe LD, two profound LD, and two borderline intellectual functioning. Neuroimaging indicated cerebral abnormalities in more than half of the patients. Abnormalities of white/grey matter were found in more than half of examined individuals; enlargement of ventricles in more than a third. Results indicate that at least a subgroup of ASD may be associated with errors in early embryonic brain development. Awareness of the coexistence of OAV/ASD is important in habilitation care of individuals with OAV.
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5.
  • Johansson, Maria E I, 1961, et al. (författare)
  • Autism spectrum disorders and underlying brain pathology in CHARGE association.
  • 2006
  • Ingår i: Developmental Medicine and Child Neurology. - 0012-1622. ; 48:1, s. 40-50
  • Tidskriftsartikel (refereegranskat)abstract
    • The rate of autism spectrum disorders (ASDs) and brain abnormalities was analyzed in 31 individuals (15 males, 16 females; age range 1mo to 31y, mean age 8y 11mo) with CHARGE association, as part of a multidisciplinary study. A meticulous neuropsychiatric examination was performed, including standardized autism diagnostic interviews. Judgement regarding ASDs was impossible in three infants and three patients who were deaf and blind. Five individuals met diagnostic criteria for autism, five for an autistic-like condition, and seven for autistic traits. Brain abnormalities were indicated in almost three-quarters of examined individuals, and midline abnormalities of the forebrain in one-third. Awareness of the coexistence of CHARGE and ASDs is important in habilitation care in CHARGE. Moreover, the results indicate that a subgroup of ASDs may be associated with errors in early embryonic brain development.
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6.
  • Philippe, Anne, et al. (författare)
  • Analysis of ten candidate genes in autism by association and linkage
  • 2002
  • Ingår i: American Journal of Medical Genetics. - : Wiley. - 0148-7299. ; 114:2, s. 125-128
  • Tidskriftsartikel (refereegranskat)abstract
    • We studied the possible involvement of ten candidate genes in autism: proenkephalin, prodynorphin, and proprotein convertase subtilisin/kexin type 2 (opioid metabolism); tyrosine hydroxylase, dopamine receptors D2 and D5, monoamine oxidases A and B (monoaminergic system); brain-derived neurotrophic factor, and neural cell adhesion molecule (involved in neurodevelopment). Thirty-eight families with two affected siblings and one family with two affected half-siblings, recruited by the Paris Autism Research International Sibpair Study (PARIS), were tested using the transmission disequilibrium test and two-point affected sib-pair linkage analysis. We found no evidence for association or linkage with intragenic or linked markers. Our family sample has good power for detecting a linkage disequilibrium of 0.80. Thus, these genes are unlikely to play a major role in the families studied, but further studies in a much larger sample would be needed to highlight weaker genetic effects.
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7.
  • Philippe, Anne, et al. (författare)
  • Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study.
  • 1999
  • Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 8:5, s. 805-812
  • Tidskriftsartikel (refereegranskat)abstract
    • Family and twin studies have suggested a genetic component in autism. We performed a genome-wide screen with 264 microsatellites markers in 51 multiplex families, using non-parametric linkage methods. Families were recruited by a collaborative group including clinicians from Sweden, France, Norway, the USA, Italy, Austria and Belgium. Using two-point and multipoint affected sib-pair analyses, 11 regions gave nominal P-values of 0.05 or lower. Four of these regions overlapped with regions on chromosomes 2q, 7q, 16p and 19p identified by the first genome-wide scan of autism performed by the International Molecular Genetic Study of Autism Consortium. Another of our potential susceptibility regions overlapped with the 15q11–q13 region identified in previous candidate gene studies. Our study revealed six additional regions on chromosomes 4q, 5p, 6q, 10q, 18q and Xp. We found that the most significant multipoint linkage was close to marker D6S283 (maximum lod score = 2.23, P= 0.0013)
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8.
  • Råstam, Maria, 1948, et al. (författare)
  • Alexithymia in anorexia nervosa: a controlled study using the 20-item Toronto Alexithymia Scale.
  • 1997
  • Ingår i: Acta Psychiatrica Scandinavica. - : Wiley. - 0001-690X .- 1600-0447. ; 95:5, s. 385-388
  • Tidskriftsartikel (refereegranskat)abstract
    • The 20-item Toronto Alexithymia Scale (TAS) was completed at the age of 22 years by individuals who had previously suffered from anorexia nervosa (AN), and also by members of a comparison group. The AN and comparison groups had been recruited from community samples. Overall, the TAS scores did not clearly discriminate between the two groups. However, the AN group was significantly more often represented among subjects with the highest TAS scores. A subgroup with empathy disorder tended to have particularly high scores. It is concluded that alexithymia, as defined using the TAS-20, is found only in a subgroup of individuals with AN, and possibly more often in those who are also clinically diagnosed as suffering from empathy disorder. The TAS-20 is not suitable for screening of AN in the general population.
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9.
  • Tentler, Dmitry, et al. (författare)
  • A candidate region for Asperger syndrome defined by two 17p breakpoints
  • 2003
  • Ingår i: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 11:2, s. 189-195
  • Tidskriftsartikel (refereegranskat)abstract
    • Asperger syndrome (AS) is a mild form of autistic disorder characterised by impairment in social interaction as well as a restricted pattern of behaviour, interests, and activities. Two patients with AS and balanced translocations t(13;17) and t(17;19), respectively, were identified. Fluorescent in situ hybridisation (FISH) analysis with chromosome 17 specific clones to metaphase chromosomes from both patients showed that the chromosome 17 breakpoints are located within a 300 kb region at 17p13. The region spans 14 known genes. The expression of these genes was analysed in lymphoblastoid RNA derived from the patients and healthy control individuals. The CHRNE, DKFZP566H073, LOC90048, PFN1, SPAG7, KIAA0909, ZNF232 and KIF1C genes showed similar levels of expression in cell lines with the translocations when compared with cell lines with normal karyotype. No expression was detected for the MINK, GP1BA, SLC25A11, ENO3, FLJ10060 and USP6 genes in any of the cell lines. The close physical relation of the two 17p breakpoints suggest a common genetic aetiology for the phenotype in the patients. Structural and functional analysis of the genes located around the two 17p breakpoints in t(13;17) and t(17;19) patients may reveal candidate sequences for the AS phenotype.
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10.
  • Aigner, Martin, et al. (författare)
  • World Federation of Societies of Biological Psychiatry (WFSBP) Guidelines for the Pharmacological Treatment of Eating Disorders
  • 2011
  • Ingår i: World Journal of Biological Psychiatry. - : Informa UK Limited. - 1562-2975 .- 1814-1412. ; 12:6, s. 400-443
  • Tidskriftsartikel (refereegranskat)abstract
    • Objectives. The treatment of eating disorders is a complex process that relies not only on the use of psychotropic drugs but should include also nutritional counselling, psychotherapy and the treatment of the medical complications, where they are present. In this review recommendations for the pharmacological treatment of eating disorders (anorexia nervosa (AN), bulimia nervosa (BN), binge eating disorder (BED)) are presented, based on the available literature. Methods. The guidelines for the pharmacological treatment of eating disorders are based on studies published between 1977 and 2010. A search of the literature included: anorexia nervosa bulimia nervosa, eating disorder and binge eating disorder. Many compounds have been studied in the therapy of eating disorders (AN: antidepressants (TCA, SSRIs), antipsychotics, antihistaminics, prokinetic agents, zinc, Lithium, naltrexone, human growth hormone, cannabis, clonidine and tube feeding; BN: antidepressants (TCA, SSRIs, RIMA, NRI, other AD), antiepileptics, odansetron, d-fenfluramine Lithium, naltrexone, methylphenidate and light therapy; BED: antidepressants (TCA, SSRIs, SNRIs, NRI), antiepileptics, baclofen, orlistat, d-fenfluramine, naltrexone). Results. In AN 20 randomized controlled trials (RCT) could be identified. For zinc supplementation there is a grade B evidence for AN. For olanzapine there is a category grade B evidence for weight gain. For the other atypical antipsychotics there is grade C evidence. In BN 36 RCT could be identified. For tricyclic antidepressants a grade A evidence exists with a moderate-risk-benefit ratio. For fluoxetine a category grade A evidence exists with a good risk-benefit ratio. For topiramate a grade 2 recommendation can be made. In BED 26 RCT could be identified. For the SSRI sertraline and the antiepileptic topiramate a grade A evidence exists, with different recommendation grades. Conclusions. Additional research is needed for the improvement of the treatment of eating disorders. Especially for anorexia nervosa there is a need for further pharmacological treatment strategies Read More: http://informahealthcare.com/doi/abs/10.3109/15622975.2011.602720
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