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Sökning: WFRF:(Råstam Maria)

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51.
  • Gillberg, Christopher, 1950, et al. (författare)
  • Overlap between ADHD and autism spectrum disorders in adults.
  • 2011
  • Ingår i: In J.K. Buitelaar, C.C. Kan & P. Asherson (Eds.), ADHD in Adults. Characterization, Diagnosis, and Treatment. - Cambridge : Cambridge University Press. - 9780521864312 ; , s. 157-167
  • Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
    • Autism was long considered to be a very rare disorder, the best defined in child psychiatry (Rutter & Schopler, 1992), and one that occurred in isolation, often with no comorbidity (except, possibly, mental retardation) and presumably with one etiology. It is now clear that autism in its classic variant is but part of a broader spectrum of disorders that include not only “autistic disorder” (as defined by DSM-IV) but also a number of conditions, including Asperger disorder and so-called pervasive developmental disorders not otherwise specified (PDDNOS)/atypical autism (Wing & Potter, 2002). It has also become generally accepted that these “autism spectrum disorders” (ASDs, including autistic disorder) are much more common than previously assumed, with overall childhood prevalence usually reported at just under 1% (Gillberg et al., 2006). To complicate things, genetic studies have shown that ASDs extend into “lesser variants” and “broader phenotypes” with some characteristic autism features but with little or no clinical impairment. Population studies suggest that such lesser variants or features of autism occur in several percent of children (Briskman, Happé, & Frith, 2001; Constantino & Todd, 2003; Posserud et al., 2006). The comorbidity issue in autism has not been resolved, and authorities in the field still argue about whether autism can be associated with other disorders, including ADHD. Both the DSM-IV and ICD-10 include a section of the diagnostic criteria that is difficult to interpret but that would tend to make researchers and clinicians loathe to diagnose coexisting/comorbid ADHD in ASD. Conversely, ADHD has long been agreed to be a common type of childhood behavior disorder and one that does blend into normality.
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52.
  • Gillberg, I Carina, 1949, et al. (författare)
  • Attention, executive functions, and mentalizing in anorexia nervosa eighteen years after onset of eating disorder
  • 2010
  • Ingår i: Journal of Clinical and Experimental Neuropsychology. - : Informa UK Limited. - 1380-3395 .- 1744-411X. ; 32:4, s. 358-365
  • Tidskriftsartikel (refereegranskat)abstract
    • OBJECTIVE: Prospective study of attention, executive functions, and mentalizing abilities in a representative sample of teenage-onset anorexia nervosa (AN). METHOD: A total of 51 AN cases recruited after community screening were contrasted with 51 matched comparison cases 18 years after AN onset. Neuropsychological tests had been done at 21, 24, and 32 years (18 years after AN onset). RESULTS: The AN-group had more attention, executive function, and mentalizing problems. Some of these problems had been present at all three follow-up occasions. CONCLUSIONS: AN is associated with a range of neuropsychological problems that are present long after the eating disorder per se is no longer an important feature.
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53.
  • Gillberg, I Carina, 1949, et al. (författare)
  • Cognitive and executive functions in anorexia nervosa ten years after onset of eating disorder.
  • 2007
  • Ingår i: Journal of Clinical and Experimental Neuropsychology. - : Informa UK Limited. - 1380-3395 .- 1744-411X. ; 29:2, s. 170-178
  • Tidskriftsartikel (refereegranskat)abstract
    • In a longitudinal study, the authors explore the course of general cognition in anorexia nervosa (AN) over time and compare general cognitive problems, executive function deficits, attentional problems and visuomotor dysfunctions across AN individuals and healthy controls. A community-based sample of adolescent onset AN cases (n=40-47) was contrasted with an age-, sex- and school matched comparison group (n=47-51) on the Wechsler Adult Intelligence Scale-Revised, the Wisconsin Card Sorting Test and Luria word recall test at a mean age of 24 years. Only two of the cases tested were underweight at the time of the study. The Wechsler scale had also been administered when the groups had a mean age of 21 years. There were few differences across the two groups even though the comparison group performed significantly better on the Object Assembly subtest of the WAIS-R. IQ increased slightly but significantly over time in both groups. There was no relationship between level of starvation and poor results on tests in the AN group. A subgroup of the subjects had autism spectrum disorders. In this subgroup there were cases with test profiles similar to those observed in autism and Asperger syndrome, just as there had been on testing three years previously. Ten years after AN onset, the former AN cases showed no major neuropsychological deficits. A subgroup with autistic features had test profiles similar to those observed in autism spectrum disorders. The AN group as a whole showed poor results on the object assembly subtest indicating weak central coherence with a tendency to focus on details at the expense of configural information. This cognitive style may account for their obsession with details, with implications for psychoeducational approaches in treatment programmes/interventions.
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54.
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55.
  • Gong, Xiaohong, et al. (författare)
  • An investigation of ribosomal protein L10 gene in autism spectrum disorders.
  • 2009
  • Ingår i: BMC Medical Genetics. - : Springer Science and Business Media LLC. - 1471-2350. ; 10
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: Autism spectrum disorders (ASD) are severe neurodevelopmental disorders with the male:female ratio of 4:1, implying the contribution of X chromosome genetic factors to the susceptibility of ASD. The ribosomal protein L10 (RPL10) gene, located on chromosome Xq28, codes for a key protein in assembling large ribosomal subunit and protein synthesis. Two non-synonymous mutations of RPL10, L206M and H213Q, were identified in four boys with ASD. Moreover, functional studies of mutant RPL10 in yeast exhibited aberrant ribosomal profiles. These results provided a novel aspect of disease mechanisms for autism - aberrant processes of ribosome biosynthesis and translation. To confirm these initial findings, we re-sequenced RPL10 exons and quantified mRNA transcript level of RPL10 in our samples. METHODS: 141 individuals with ASD were recruited in this study. All RPL10 exons and flanking junctions were sequenced. Furthermore, mRNA transcript level of RPL10 was quantified in B lymphoblastoid cell lines (BLCL) of 48 patients and 27 controls using the method of SYBR Green quantitative PCR. Two sets of primer pairs were used to quantify the mRNA expression level of RPL10: RPL10-A and RPL10-B. RESULTS: No non-synonymous mutations were detected in our cohort. Male controls showed similar transcript level of RPL10 compared with female controls (RPL10-A, U=81, P=0.7; RPL10-B, U=61.5, P=0.2). We did not observe any significant difference in RPL10 transcript levels between cases and controls (RPL10-A, U=531, P=0.2; RPL10-B, U=607.5, P=0.7). CONCLUSION: Our results suggest that RPL10 has no major effect on the susceptibility to ASD.
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56.
  • Gong, Xiaohong, et al. (författare)
  • Analysis of X chromosome inactivation in autism spectrum disorders.
  • 2008
  • Ingår i: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics. - : Wiley. - 1552-485X .- 1552-4841. ; 147B:6, s. 830-835
  • Tidskriftsartikel (refereegranskat)abstract
    • Autism spectrum disorders (ASD) are complex genetic disorders more frequently observed in males. Skewed X chromosome inactivation (XCI) is observed in heterozygous females carrying gene mutations involved in several X-linked syndromes. In this study, we aimed to estimate the role of X-linked genes in ASD susceptibility by ascertaining the XCI pattern in a sample of 543 informative mothers of children with ASD and in a sample of 163 affected girls. The XCI pattern was also determined in two control groups (144 adult females and 40 young females) with a similar age distribution to the mothers sample and affected girls sample, respectively. We observed no significant excess of skewed XCI in families with ASD. Interestingly, two mothers and one girl carrying known mutations in X-linked genes (NLGN3, ATRX, MECP2) showed highly skewed XCI, suggesting that ascertainment of XCI could reveal families with X-linked mutations. Linkage analysis was carried out in the subgroup of multiplex families with skewed XCI (> or = 80:20) and a modest increased allele sharing was obtained in the Xq27-Xq28 region, with a peak Z-score of 1.75 close to rs719489. In summary, our results suggest that there is no major X-linked gene subject to XCI and expressed in blood cells conferring susceptibility to ASD. However, the possibility that rare mutations in X-linked genes could contribute to ASD cannot be excluded. We propose that the XCI profile could be a useful criteria to prioritize families for mutation screening of X-linked candidate genes.
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57.
  • Gustafsson, Peik, et al. (författare)
  • Motor function and perception in children with neuropsychiatric and conduct problems : results from a population based twin study
  • 2014
  • Ingår i: Journal of Neurodevelopmental Disorders. - Stockholm : Karolinska Institutet, Dept of Medical Epidemiology and Biostatistics. - 1866-1947 .- 1866-1955.
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: Children with early symptomatic psychiatric disorders such as Attention-Deficit/Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD) have been found to have high rates of motor and/or perception difficulties. However, there have been few large-scale studies reporting on the association between Conduct Disorder (CD) and motor/perception functions. The aim of the present study was to investigate how motor function and perception relate to measures of ADHD, ASD, and CD. METHODS: Parents of 16,994 Swedish twins (ages nine and twelve years) were interviewed using the Autism-Tics, ADHD and other Comorbidities inventory (A-TAC), which has been validated as a screening instrument for early onset child psychiatric disorders and symptoms. Associations between categorical variables of scoring above previously validated cut-off values for diagnosing ADHD, ASD, and CD on the one hand and motor and/or perception problems on the other hand were analysed using cross-tabulations, and the Fisher exact test. Associations between the continuous scores for ADHD, ASD, CD, and the subdomains Concentration/Attention, Impulsiveness/Activity, Flexibility, Social Interaction and Language, and the categorical factors age and gender, on the one hand, and the dependent dichotomic variables Motor control and Perception problems, on the other hand, were analysed using binary logistic regression in general estimated equation models. RESULTS: Male gender was associated with increased risk of Motor control and/or Perception problems. Children scoring above the cut-off for ADHD, ASD, and/or CD, but not those who were 'CD positive' but 'ADHD/ASD negative', had more Motor control and/or Perception problems, compared with children who were screen-negative for all three diagnoses. In the multivariable model, CD and Impulsiveness/Activity had no positive associations with Motor control and/or Perception problems. CONCLUSIONS: CD symptoms or problems with Impulsiveness/Activity were associated with Motor control or Perception problems only in the presence of ASD symptoms and/or symptoms of inattention. Our results indicate that children with CD but without ASD or inattention do not show a deviant development of motor and perceptual functions. Therefore, all children with CD should be examined concerning motor control and perception. If problems are present, a suspicion of ADHD and/or ASD should be raised.
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58.
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59.
  • Haglund, Nils, et al. (författare)
  • Improvement of Autism Symptoms After Comprehensive Intensive Early Interventions in Community Settings
  • 2021
  • Ingår i: Journal of the American Psychiatric Nurses Association. - : SAGE Publications. - 1078-3903 .- 1532-5725. ; 27:6, s. 483-495
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: Preschool children with autism in southern Sweden participated in a comprehensive Naturalistic Developmental Behavioral Intervention (NDBI) program. AIMS: To evaluate the ongoing NDBI program by comparing the pre- and postintervention outcomes in terms of improved autism symptom severity. METHOD: The improvement of Autism Diagnostic Observation Schedule (ADOS-R) test results between baseline and evaluation among children participating in the NDBI program (n = 67) was compared with the results among children receiving community treatment as usual (n = 27) using analysis of covariance. RESULTS: The study showed that children in the NDBI group improved their ADOS-R total scores between baseline and evaluation (-0.8 scores per year; 95% CI [-1.2, -0.4]), whereas no improvement was detected in the comparison group (+0.1 scores per year; 95% CI [-0.7, +0.9]). The change in the NDBI group versus the change in the comparison group was statistically significant after adjusting for possible confounders as well. Children in the NDBI group also significantly improved their ADOS severity scores, but the scores were not significantly different from those of the comparison group. CONCLUSIONS: The results from the current naturalistic study must be interpreted cautiously, but they do support earlier studies reporting on improvement of autism symptoms after early intensive interventions. Results from observational studies are difficult to interpret, but it is nevertheless of uttermost importance to evaluate costly autism intervention programs. The results do indicate that children with autism benefit from participating in early comprehensive intensive programs.
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60.
  • Haglund, Nils, et al. (författare)
  • The observation scale for autism (OSA): A new screening method to detect autism spectrum disorder before age three years
  • 2015
  • Ingår i: Journal of Intellectual Disability - Diagnosis and Treatment. - : Lifescience Global. - 2292-2598. ; 3:4, s. 230-237
  • Tidskriftsartikel (refereegranskat)abstract
    • Abstract: Background: There is an increasing body of evidence that early interventions for children with Autism Spectrum Disorder (ASD) promote a positive development of social interaction. Thus, tools for early detection of ASD are warranted. Aim: Development of, and deciding cut-off-levels for, a new screening tool for ASD, the Observation Scale for Autism (OSA). The OSA was designed to be used at the free health check-up at 30 months, offered to all children in Sweden. Method: The OSA consists of 12 observations and takes less than 10 minutes to use. The performance of the test was investigated by assessing 37 children previously diagnosed ASD, 23 with Down Syndrome (DS) and 26 typically developing children (TD). Results: Children diagnosed with ASD showed statistically significant higher scores in all 12 items compared to TD children, and significantly higher in 10 items compared to the children with DS. Most of the observations in OSA seemed to cover specific symptoms of ASD, but two of the observations were more related to developmental level. The nine most discriminative items for ASD were identified, and among those, a cut-off limit was chosen (≥3 items). Among children with ASD, 34/37 reached the proposed cut off, compared to 0/26 and 4/23 among children in the TD and DS groups, respectively. Conclusion: The results suggest that the OSA discriminates children with ASD from TD children and children with DS. Using the suggested cut off, OSA provides high sensitivity for ASD (92%) with a very low false positive rate.
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