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Sökning: WFRF:(Gillberg I Carina 1949)

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1.
  • Hadjikhani, Nouchine, 1966, et al. (författare)
  • Emotional contagion for pain is intact in autism spectrum disorders.
  • 2014
  • Ingår i: Translational psychiatry. - : Springer Science and Business Media LLC. - 2158-3188. ; 4
  • Tidskriftsartikel (refereegranskat)abstract
    • Perceiving others in pain generally leads to empathic concern, consisting of both emotional and cognitive processes. Empathy deficits have been considered as an element contributing to social difficulties in individuals with autism spectrum disorders (ASD). Here, we used functional magnetic resonance imaging and short video clips of facial expressions of people experiencing pain to examine the neural substrates underlying the spontaneous empathic response to pain in autism. Thirty-eight adolescents and adults of normal intelligence diagnosed with ASD and 35 matched controls participated in the study. In contrast to general assumptions, we found no significant differences in brain activation between ASD individuals and controls during the perception of pain experienced by others. Both groups showed similar levels of activation in areas associated with pain sharing, evidencing the presence of emotional empathy and emotional contagion in participants with autism as well as in controls. Differences between groups could be observed at a more liberal statistical threshold, and revealed increased activations in areas involved in cognitive reappraisal in ASD participants compared with controls. Scores of emotional empathy were positively correlated with brain activation in areas involved in embodiment of pain in ASD group only. Our findings show that simulation mechanisms involved in emotional empathy are preserved in high-functioning individuals with autism, and suggest that increased reappraisal may have a role in their apparent lack of caring behavior.
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2.
  • 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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3.
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4.
  • Allely, Clare S, et al. (författare)
  • Can psychopathology at age 7 be predicted from clinical observation at one year? Evidence from the ALSPAC cohort.
  • 2012
  • Ingår i: Research in Developmental Disabilities. - : Elsevier BV. - 0891-4222. ; 33:6, s. 2292-2300
  • Tidskriftsartikel (refereegranskat)abstract
    • One of the challenges of developmental psychopathology is to determine whether identifiable pathways to developmental disorders exist in the first months or years of life. Early identification of such disorders poses a similar challenge for clinical services. Using data from a large contemporary birth cohort, we examined whether psychopathology at age seven can be predicted from clinician observation at one year. Two groups of clinical raters observed videos of caregiver-infant interaction. Neither group of raters could reliably identify any precursors of later development of psychopathology in the one-year-old infants in this setting.
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5.
  • Anckarsäter, Henrik, 1966, et al. (författare)
  • Child neurodevelopmental and behavioural problems are intercorrelated and dimensionally distributed in the general population
  • 2008
  • Ingår i: The Open Psychiatry Journal. - : Bentham Science Publishers Ltd.. - 1874-3544. ; 2, s. 5-11
  • Tidskriftsartikel (refereegranskat)abstract
    • The Autism – Tics, AD/HD, and other Comorbidities inventory (A-TAC) is a comprehensive interview for evaluating problems related to autism spectrum disorders (ASD), tic disorders, attention-deficit/hyperactivity disorder (AD/HD), and common comorbid conditions in children and adolescents. A-TAC telephone interviews were administered to parents of 2,957 children aged nine- or twelve-years, representing one in each twin pair included in the population- based Child and Adolescent Twin Study in Sweden (CATSS). A total of 16.4% were screen-positive for one or several of the targeted disorder, 1.3% for ASD and 5.6% for AD/HD. All types of problems were more common among boys, with the exception of those related to “eating habits”. They were all dimensionally/continuously distributed, highly inter-correlated, and overlapped across types. They aggregated in three ba- sic factors corresponding to externalizing/disruptiveness, socio-communicative problems, and compulsiveness. Population-based data on problems in children thus challenge current categorical diagnostic definitions, calling for dimen- sional and complementary models of problem descriptions.
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6.
  • Anckarsäter, Henrik, et al. (författare)
  • The sociocommunicative deficit subgroup in anorexia nervosa: autism spectrum disorders and neurocognition in a community-based, longitudinal study
  • 2012
  • Ingår i: Psychological Medicine. - 1469-8978 .- 0033-2917. ; 42:9, s. 1957-1967
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: A subgroup of persons with anorexia nervosa (AN) have been proposed to have sociocommunicative problems corresponding to autism spectrum disorders [ASDs, i.e. DSM-IV pervasive developmental disorders (PDDs): autistic disorder, Asperger's disorder, PDD not otherwise specified (NOS)]. Here, clinical problems, personality traits, cognitive test results and outcome are compared across 16 subjects (32%) with teenage-onset AN who meet or have met ASD criteria (AN+ASD), 34 ASD-negative AN subjects and matched controls from a longitudinal Swedish study including four waves of independent assessments from the teens to the early thirties.MethodThe fourth wave included the Structured Clinical Interview for DSM-IV (SCID)-I and the SCID-II (cluster C, i.e. 'anxious' PDs) interviews, the Asperger Syndrome Diagnostic Interview, self-assessments by the Autism Spectrum Quotient and the Temperament and Character Inventory, neurocognitive tests by subscales from the Wechsler scales, continuous performance tests, Tower of London, and Happé's cartoons. RESULTS: The ASD assessments had substantial inter-rater reliability over time (Cohen's κ between 0.70 and 0.80 with previous assessments), even if only six subjects had been assigned a diagnosis of an ASD in all four waves of the study, including retrospective assessments of pre-AN neurodevelopmental problems. The AN+ASD group had the highest prevalence of personality disorders and the lowest Morgan-Russell scores. The non-ASD AN group also differed significantly from controls on personality traits related to poor interpersonal functioning and on neurocognitive tests. CONCLUSIONS: A subgroup of subjects with AN meet criteria for ASDs. They may represent the extreme of neurocognitive and personality problems to be found more generally in AN.
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7.
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8.
  • Beggiato, Anita, et al. (författare)
  • Gender differences in autism spectrum disorders: Divergence among specific core symptoms.
  • 2017
  • Ingår i: Autism research : official journal of the International Society for Autism Research. - : Wiley. - 1939-3806 .- 1939-3792. ; 10:4, s. 680-689
  • Tidskriftsartikel (refereegranskat)abstract
    • Community-based studies have consistently shown a sex ratio heavily skewed towards males in autism spectrum disorders (ASD). The factors underlying this predominance of males are largely unknown, but the way girls score on standardized categorical diagnostic tools might account for the underrecognition of ASD in girls. Despite the existence of different norms for boys and girls with ASD on several major screening tests, the algorithm of the Autism Diagnosis Interview-Revised (ADI-R) has not been reformulated. The aim of our study was to investigate which ADI-R items discriminate between males and females, and to evaluate their weighting in the final diagnosis of autism. We then conducted discriminant analysis (DA) on a sample of 594 probands including 129 females with ASD, recruited by the Paris Autism Research International Sibpair (PARIS) Study. A replication analysis was run on an independent sample of 1716 probands including 338 females with ASD, recruited through the Autism Genetics Resource Exchange (AGRE) program. Entering the raw scores for all ADI-R items as independent variables, the DA correctly classified 78.9% of males and 72.9% of females (P<0.001) in the PARIS cohort, and 72.2% of males and 68.3% of females (P<0.0001) in the AGRE cohort. Among the items extracted by the stepwise DA, four belonged to the ADI-R algorithm used for the final diagnosis of ASD. In conclusion, several items of the ADI-R that are taken into account in the diagnosis of autism significantly differentiates between males and females. The potential gender bias thus induced may participate in the underestimation of the prevalence of ASD in females. Autism Res 2016,. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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9.
  • Billstedt, Eva, 1961, et al. (författare)
  • Aspects of quality of life in adults diagnosed with autism in childhood: a population-based study.
  • 2011
  • Ingår i: Autism. - : SAGE Publications. - 1362-3613 .- 1461-7005. ; 15:1, s. 7-20
  • Tidskriftsartikel (refereegranskat)abstract
    • The present study is a long-term prospective follow-up study of a population-based cohort of 120 individuals diagnosed with autism in childhood, followed into late adolescence/early adulthood. Specific aims of the study were to attempt to measure and study social aspects/quality of life in those 108 individuals with autism alive and available for study at the time of follow-up (13-22 years after original diagnosis). A newly constructed scale for rating 'autism-friendly environment'/quality of life was used alongside a structured parent/carer interview assessing current occupation, educational history, services provided, accommodation type, and recreational activities. The majority of the group with autism remained dependent on parents/caregivers for support in education, accommodation and occupational situations. In spite of this, the estimation of the study group's general quality of life was encouragingly positive. Nevertheless, there was an obvious need for improvements in the areas of occupation and recreational activities. Future studies need to look in more depth at the concept of an autism-friendly environment and develop more detailed quality of life assessment tools relevant for people in the autism spectrum.
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10.
  • Billstedt, Eva, 1961, et al. (författare)
  • Autism after adolescence: population-based 13- to 22-year follow-up study of 120 individuals with autism diagnosed in childhood.
  • 2005
  • Ingår i: Journal of Autism and Developmental Disorders. - : Springer Science and Business Media LLC. - 0162-3257 .- 1573-3432. ; 35:3, s. 351-360
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: Prospective population-based follow-up study of 120 individuals with autism followed from childhood to adulthood. METHODS: Individuals with autism, diagnosed in childhood, were followed prospectively for a period of 13-22 years and re-evaluated at ages 17-40 years. The instruments used at follow-up were the DISCO, WAIS-R, WISC-III, Vineland Adaptive Behavior Scales, psychiatric-medical examination and GAF-scale. A set of criteria was used for the classification of outcomes, taking into consideration employment, higher education/vocational training, independent living and peer relations. RESULTS: Six of the 120 (5%) had died at the time of follow-up, and six declined participation. Overall outcome was poor in 78% of cases. Only four individuals were independent albeit leading fairly isolated lives. Childhood IQ-level was positively correlated with better adult outcome, as was the existence of some communicative phrase speech at age six years. CONCLUSIONS: Children with autism as diagnosed in the 1960s, 1970s, and 1980s may have an even worse psychosocial outcome than previously believed.
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11.
  • Billstedt, Eva, 1961, et al. (författare)
  • Autism in adults: symptom patterns and early childhood predictors. Use of the DISCO in a community sample followed from childhood.
  • 2007
  • Ingår i: Journal of Child Psychology and Psychiatry, and Allied Disciplines. - : Wiley. - 0021-9630 .- 1469-7610. ; 48:11, s. 1102-1110
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: Few studies have looked at the very long-term outcome of individuals with autism who were diagnosed in childhood. METHODS: A longitudinal, prospective, community-based follow-up study of adults who had received the diagnosis of autism (classic and atypical) in childhood (n = 105) was conducted. A structured interview (the Diagnostic Interview for Social and COmmunication disorders--the DISCO) was used in order to evaluate symptoms and symptom patterns 13-22 years after original diagnosis. Childhood measures, including IQ-level at time of childhood diagnosis and communicative speech registered before age 5 years, were studied in relation to the presence of autism symptoms at follow-up. RESULTS: The classical and atypical autism groups were fairly homogeneously impaired in terms of symptoms in the social interaction category whereas other common childhood autism symptoms, including maladaptive and stereotyped behaviours, were more variable in the study group at follow-up. Odd responses to sensory stimuli were still extremely common. Speech before 5 years of age, IQ, gender, diagnosed medical disorder and onset of epilepsy before 5 years were variables that correlated to outcome on the DISCO algorithm for autistic spectrum disorders (Wing & Gould, 1979) concerning style and quality of social interaction, communication style and pattern of self-chosen activities. CONCLUSIONS: Social interaction problems were still present in the vast majority of adults with autism/atypical autism, but behavioural impairments were much more variable in adulthood. Almost all cases were reported to show persistent perceptual problems. Certain childhood measures were found to prospectively predict adult social interaction style, communication type, and pattern of self-chosen activities, which still met diagnostic criteria for autism/atypical autism in adulthood.
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12.
  • Castellheim, Albert, et al. (författare)
  • The role of general anesthesia on traits of neurodevelopmental disorders in a Swedish cohort of twins.
  • 2018
  • Ingår i: Journal of child psychology and psychiatry, and allied disciplines. - : Wiley. - 1469-7610 .- 0021-9630. ; 59:9, s. 966-972
  • Tidskriftsartikel (refereegranskat)abstract
    • The role of general anesthetics as a risk factor for possible neurodevelopmental disorders (NDDs) in humans is unresolved. The investigation of the role of anesthetics in the development of postgeneral anesthesia (anesthesia onward) NDDs has proven to be complicated, partly because of the inherent confounding in clinical cohort studies, and partly by the fact that anesthetics are only one part in the complex process of anesthesia-surgery.Utilizing the Swedish databases Child and Adolescent Twins Study in Sweden (CATSS) and National Patient Register (NPR), we investigated twins discordant for anesthesia, born between 1997 and 2004 for traits of NDDs. We identified 68 twin pairs discordant for anesthesia and explored traits of Attention-Deficit/Hyperactivity Disorder (ADHD), Learning Disability (LD), and Autism Spectrum Disorder (ASD) in them while simultaneously taking congenital abnormalities and systemic disorders (CSDs) into account. We analyzed the possible effect of anesthesia on neurodevelopmental problems, and we analyzed the within-pair differences using conditional linear regression.Twins with a recorded episode of anesthesia had higher traits of NDDs than twins without; similarly twins with CSDs had higher mean scores on all traits than twins without CSDs. The within-pair analyses suggested that exposure to anesthesia was associated with higher scores of ADHD (regression coefficient 1.02 and 95% confidence intervals: 0.27-1.78) in monozygotic (MZ) twins discordant for anesthesia. This effect remained when adjusting for congenital abnormalities.Our finding that traits of ADHD were slightly associated with anesthesia in a genetically sensitive design is in need of replication and warrants further investigation. Future studies should aim to elucidate mechanisms behind this possible association (e.g. anesthetics doses, age at exposure, exposure duration).
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13.
  • Cederlund, Mats, 1962, et al. (författare)
  • Asperger syndrome and autism: a comparative longitudinal follow-up study more than 5 years after original diagnosis.
  • 2008
  • Ingår i: Journal of Autism and Developmental Disorders. - : Springer Science and Business Media LLC. - 0162-3257 .- 1573-3432. ; 38:1, s. 72-85
  • Tidskriftsartikel (refereegranskat)abstract
    • Prospective follow-up study of 70 males with Asperger syndrome (AS), and 70 males with autism more than 5 years after original diagnosis. Instruments used at follow-up included overall clinical assessment, the Diagnostic Interview for Social and Communication Disorders, Wechsler Intelligence Scales, Vineland Adaptive Behavior Scales, and Global Assessment of Functioning Scale. Specific outcome criteria were used. Outcome in AS was good in 27% of cases. However, 26% had a very restricted life, with no occupation/activity and no friends. Outcome in the autism group was significantly worse. Males with AS had worse outcomes than expected given normal to high IQ. However, outcome was considerably better than for the comparison group of individuals with autism.
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14.
  • Chaste, Pauline, et al. (författare)
  • Genetic variations of the melatonin pathway in patients with attention-deficit and hyperactivity disorders.
  • 2011
  • Ingår i: Journal of Pineal Research. - 0742-3098 .- 1600-079X. ; 51:4, s. 394-399
  • Tidskriftsartikel (refereegranskat)abstract
    • Melatonin is a powerful antioxidant and a synchronizer of many physiological processes. Alteration in melatonin signaling has been reported in a broad range of diseases, but little is known about the genetic variability of this pathway in humans. Here, we sequenced all the genes of the melatonin pathway -AA-NAT, ASMT, MTNR1A, MTNR1B and GPR50 - in 321 individuals from Sweden including 101 patients with attention-deficit/hyperactivity disorder (ADHD) and 220 controls from the general population. We could find several damaging mutations in patients with ADHD, but no significant enrichment compared with the general population. Among these variations, we found a splice site mutation in ASMT (IVS5+2T>C) and one stop mutation in MTNR1A (Y170X) - detected exclusively in patients with ADHD - for which biochemical analyses indicated that they abolish the activity of ASMT and MTNR1A. These genetic and functional results represent the first comprehensive ascertainment of melatonin signaling deficiency in ADHD.
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15.
  • Chaste, Pauline, et al. (författare)
  • Identification of pathway-biased and deleterious melatonin receptor mutants in autism spectrum disorders and in the general population.
  • 2010
  • Ingår i: PloS One. - : Public Library of Science (PLoS). - 1932-6203. ; 5:7
  • Tidskriftsartikel (refereegranskat)abstract
    • Melatonin is a powerful antioxidant and a synchronizer of many physiological processes. Alteration of the melatonin pathway has been reported in circadian disorders, diabetes and autism spectrum disorders (ASD). However, very little is known about the genetic variability of melatonin receptors in humans. Here, we sequenced the melatonin receptor MTNR1A and MTNR1B, genes coding for MT1 and MT2 receptors, respectively, in a large panel of 941 individuals including 295 patients with ASD, 362 controls and 284 individuals from different ethnic backgrounds. We also sequenced GPR50, coding for the orphan melatonin-related receptor GPR50 in patients and controls. We identified six non-synonymous mutations for MTNR1A and ten for MTNR1B. The majority of these variations altered receptor function. Particularly interesting mutants are MT1-I49N, which is devoid of any melatonin binding and cell surface expression, and MT1-G166E and MT1-I212T, which showed severely impaired cell surface expression. Of note, several mutants possessed pathway-selective signaling properties, some preferentially inhibiting the adenylyl cyclase pathway, others preferentially activating the MAPK pathway. The prevalence of these deleterious mutations in cases and controls indicates that they do not represent major risk factor for ASD (MTNR1A case 3.6% vs controls 4.4%; MTNR1B case 4.7% vs 3% controls). Concerning GPR50, we detected a significant association between ASD and two variations, Delta502-505 and T532A, in affected males, but it did not hold up after Bonferonni correction for multiple testing. Our results represent the first functional ascertainment of melatonin receptors in humans and constitute a basis for future structure-function studies and for interpreting genetic data on the melatonin pathway in patients.
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16.
  • Danielsson, Susanna, 1964, et al. (författare)
  • Epilepsy in young adults with autism: a prospective population-based follow-up study of 120 individuals diagnosed in childhood.
  • 2005
  • Ingår i: Epilepsia. - : Wiley. - 0013-9580 .- 1528-1167. ; 46:6, s. 918-923
  • Tidskriftsartikel (refereegranskat)abstract
    • PURPOSE: Little is known about the long-term outcome of epilepsy in autism and the epilepsy characteristics of adults with autism. This prospective population-based study was conducted in an attempt to point out differences on a group basis between adults with autism with or without epilepsy, and to describe the occurrence, the seizure characteristics, and the outcome of epilepsy in autism. METHODS: One hundred eight of 120 individuals with autism diagnosed in childhood and followed up prospectively for a period of 13-22 years were reevaluated at ages 17-40 years. As adults, the majority had mental retardation and autistic disorder or autistic-like condition. Interviews were performed with the caretakers of 42 of 43 individuals with a history of epilepsy, and their medical records were reviewed. RESULTS: Adults with autism and mental retardation constituted a severely disabled group. On a group basis, both the cognitive level and the adaptive behavior level were lower in the epilepsy group than in the nonepilepsy group (p<0.05). In all, 38% had epilepsy. One third had epilepsy onset before age 2 years. Remission of epilepsy was seen in 16%. Partial seizures with or without secondarily generalized seizures were the dominating seizure type. CONCLUSIONS: In a community sample of individuals with autism followed up from childhood through to adult age, one of three had epilepsy since childhood/adolescence. Severe mental retardation and autism are significantly associated with epilepsy, especially in female patients. Seizure frequency has a great impact on the individuals' lives. Specialist medical care is needed in this severely communication-disabled population.
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17.
  • Davidsson, Maria, 1990, et al. (författare)
  • Anxiety and depression in adolescents with ADHD and autism spectrum disorders; correlation between parent- and self-reports and with attention and adaptive functioning.
  • 2017
  • Ingår i: Nordic journal of psychiatry. - : Informa UK Limited. - 1502-4725 .- 0803-9488. ; 71:8, s. 614-620
  • Tidskriftsartikel (refereegranskat)abstract
    • Adolescents with attention-deficit/hyperactive disorder (ADHD) or autism spectrum disorder (ASD) are at high risk of anxiety and depression. This is important to identify in the clinical assessment to understand its impact.The aim of this study is to investigate the correlation between parent- and self-reports of anxiety and depression in adolescents with ADHD or ASD, as well as the correlation with adaptive functioning and performance on an attention test.A total of 65 adolescents with an ADHD diagnosis (n=24) or an ASD diagnosis (n=41) filled out Beck Youth Inventories of Emotional and Social Impairment (BYI) to assess depression and anxiety and completed a Continuous Performance Test (QbTest) measuring ADHD symptoms. Parents of the participants completed the internalizing domain in the Five to Fifteen questionnaire (FTF), measuring symptoms of anxiety and depression, and the Vineland Adaptive Behavior Scales (VABS) about the adolescent's adaptive functioning.Approximately a third of the study group self-reported substantial internalizing mental symptoms not always recognized by parents, and not always obvious in adaptive function or performance at ADHD test. Correlations between BYI and FTF were low. The BYI depression inventory correlated negatively with VABS and positively with activity level in a subgroup medicated for ADHD. There was a stronger correlation between girls BYI and FTF results as compared with boys.The results highlight the need for identification of anxiety and depression, using both self- and parent report. Present anxiety and depression symptoms do not seem to affect the clinical assessment of ASD and ADHD.
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20.
  • Dinkler, Lisa, et al. (författare)
  • Visual scanning during emotion recognition in long-term recovered anorexia nervosa : An eye-tracking study
  • 2019
  • Ingår i: International Journal of Eating Disorders. - : Wiley. - 0276-3478 .- 1098-108X. ; 52:6, s. 691-700
  • Tidskriftsartikel (refereegranskat)abstract
    • Objective: To examine Facial Emotion Recognition (FER) and visual scanning behavior (eye-tracking) during FER in women long-term recovered from teenage-onset anorexia nervosa (recAN) with and without autism spectrum disorder (±ASD) and age-matched comparison women (COMP), using a sensitive design with facial emotion expressions at varying intensities in order to approximate real social contexts. Method: Fifty-seven 38–47-year-old women (26 recAN of whom six with ASD, 31 COMP) participated in the study. They completed a non-verbal FER task, consisting of matching basic emotions at different levels of expression intensity with full emotional expressions. Accuracy, response time and visual scanning behavior were measured. Results: There were no differences between recAN-ASD and COMP in FER accuracy and visual scanning behavior during FER, including eye viewing and hyperscanning. In an exploratory analysis, recAN+ASD were more accurate than recAN-ASD in identifying expressions at low intensity, but not at medium or high expression intensity. Accuracy was not associated with the extent of attention to the eye region. Discussion: Our data indicate that women long-term recovered from adolescent-onset AN do not have deficits in basic FER ability and visual scanning behavior during FER. However, the presence of comorbid ASD might affect face processing in recovered AN. Future studies investigating basic FER in acute and recovered AN and other conditions need to ensure that the stimuli used are sensitive enough to detect potential deficits.
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21.
  • Durand, Christelle. M., et al. (författare)
  • Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.
  • 2007
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 39:1, s. 25-27
  • Tidskriftsartikel (refereegranskat)abstract
    • SHANK3 (also known as ProSAP2) regulates the structural organization of dendritic spines and is a binding partner of neuroligins; genes encoding neuroligins are mutated in autism and Asperger syndrome. Here, we report that a mutation of a single copy of SHANK3 on chromosome 22q13 can result in language and/or social communication disorders. These mutations concern only a small number of individuals, but they shed light on one gene dosage-sensitive synaptic pathway that is involved in autism spectrum disorders.
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22.
  • Ellefsen, Åsa, et al. (författare)
  • Autism in the Faroe Islands: an epidemiological study.
  • 2007
  • Ingår i: Journal of Autism and Developmental Disorders. - : Springer Science and Business Media LLC. - 0162-3257 .- 1573-3432. ; 37:3, s. 437-444
  • Tidskriftsartikel (refereegranskat)abstract
    • The Faroe Islands are considered to be a genetic isolate. This population study of the prevalence of autism sought to identify a representative cohort for future genetic studies. In 2002 all schools were screened for autism spectrum disorders. The target population were all children born in 1985 through 1994 and living in the Faroe Islands on December 31, 2002. Children who screened positive for autism characteristics were examined using the Diagnostic Interview for Social and Communication Disorders (DISCO). Of the children aged 8 through 17 years, 0.56% had childhood autism, Asperger syndrome or atypical autism. The male:female ratio was just under 6:1. The prevalence of autism in the Faroe Islands was very similar to that reported from many western countries.
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23.
  • Fernandes, Lucrecia Cabral, et al. (författare)
  • Aspects of Sexuality in Adolescents and Adults Diagnosed with Autism Spectrum Disorders in Childhood.
  • 2016
  • Ingår i: Journal of autism and developmental disorders. - : Springer Science and Business Media LLC. - 1573-3432 .- 0162-3257. ; 46:9, s. 3155-3165
  • Tidskriftsartikel (refereegranskat)abstract
    • The literature concerning sexuality in autism spectrum disorders (ASDs) is limited regarding inappropriate sexual behaviours and paraphilias and its relation to age, verbal ability, symptom severity, intellectual ability, or adaptive functioning. A cohort of 184 adolescents and young adults (ages 15-39years) with ASD diagnosed in childhood, including both low and high functioning individuals, was examined. The large majority were found to have a sexual interest and showed interest towards the opposite sex. Inappropriate sexual behaviours and paraphilias were reported for about a fourth of the individuals. No relationships were found between inappropriate sexual behaviours and any of the background variables listed above. However, associations were found between paraphilias and ASD symptom severity, intellectual ability, and adaptive functioning.
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24.
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25.
  • Frost, Morgan, et al. (författare)
  • Social scene perception in autism spectrum disorder: An eye-tracking and pupillometric study
  • 2019
  • Ingår i: Journal of Clinical and Experimental Neuropsychology. - : Informa UK Limited. - 1380-3395 .- 1744-411X. ; 41:10, s. 1024-1032
  • Tidskriftsartikel (refereegranskat)abstract
    • Typically, developing humans innately place subjective value on social information and orient attention to it. This can be shown through tracking of gaze patterns and pupil size, the latter of which taps into an individual's cognitive engagement and affective arousal. People with Autism Spectrum Disorder (ASD) present with atypical social, communicative and behavioral patterns, but underlying substrates of these behavioral differences remain unclear. Moreover, due to high comorbidity with other neurodevelopmental disorders, it is often difficult to distinguish which differences are distinctive to ASD. In this study, a group of 35 adolescents and young adults with neurodevelopmental disorders were tested to investigate the processing of social and non-social scenes in individuals who meet the diagnostic criteria for autism and those who do not. Eye tracking and pupillometry measures were collected while participants observed images of tightly controlled natural scenes with or without a human being. Contrary to individuals without autism diagnosis, participants with autism did not show greater pupillary response to images with a human. Participants with autism were slower to fixate on social elements in the social scenes, and this latency metric correlated with clinical measures of poor social functioning. The results confirm the clinical relevance of eye-tracking and pupillometric indices in the field of ASD. We discuss the clinical implications of the results and propose that analysis of changes in visual attention and physiological level to social stimuli might be an integral part of a neurodevelopmental assessment.
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