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1.
  • 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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2.
  • Anckarsäter, Henrik, 1966, et al. (författare)
  • Prevalences and configurations of mental disorders among institutionalized adolescents.
  • 2007
  • Ingår i: Developmental Neurorehabilitation. - : Informa UK Limited. - 1751-8423 .- 1751-8431. ; 10:1, s. 57-65
  • Tidskriftsartikel (refereegranskat)abstract
    • OBJECTIVE: To assess prevalence figures for psychiatric disorders among institutionalized adolescents due to behavioural problems and/or delinquency. METHOD: Participants were recruited from consecutive referrals to/or treated at two Swedish adolescent units, SIS1 (n = 60) and SIS2 (n = 70) with ranging age of 12-20.3 years (mean age = 16.2; SD = 1.8) during 1 year. Clinical and diagnostic information was used to generate DSM-IV diagnoses. RESULTS: One or several neuropsychiatric disorders were diagnosed in 53% of all subjects: 39% met DSM-IV diagnostic criteria for attention deficit/hyperactivity disorder (AD/HD), 15% for a pervasive developmental disorder (referred to as autism spectrum disorders, ASDs) and 8% had a mental retardation (referred to as a learning disability, LD). The collapsed prevalence for psychiatric disorders requiring specialist attention was 66%, counting severe depression and psychotic disorders but not substance use. About one in three of all adolescents in the study were given psychopharmacological treatment. CONCLUSION: Published studies and this clinical survey clearly indicate that systematic studies of mental health needs among institutionalized adolescents are warranted to form the basis of adequate treatment and support measures.
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3.
  • Anckarsäter, Henrik, 1966, et al. (författare)
  • The impact of ADHD and autism spectrum disorders on temperament, character, and personality development.
  • 2006
  • Ingår i: The American Journal of Psychiatry. - 0002-953X .- 1535-7228. ; 163:7, s. 1239-1244
  • Tidskriftsartikel (refereegranskat)abstract
    • OBJECTIVE: The authors describe personality development and disorders in relation to symptoms of attention deficit hyperactivity disorder (ADHD) and autism spectrum disorders. METHOD: Consecutive adults referred for neuropsychiatric investigation (N=240) were assessed for current and lifetime ADHD and autism spectrum disorders and completed the Temperament and Character Inventory. In a subgroup of subjects (N=174), presence of axis II personality disorders was also assessed with the Structured Clinical Interview for DSM-IV Personality Disorders (SCID-II). RESULTS: Patients with ADHD reported high novelty seeking and high harm avoidance. Patients with autism spectrum disorders reported low novelty seeking, low reward dependence, and high harm avoidance. Character scores (self-directedness and cooperativeness) were extremely low among subjects with neuropsychiatric disorders, indicating a high overall prevalence of personality disorders, which was confirmed with the SCID-II. Cluster B personality disorders were more common in subjects with ADHD, while cluster A and C disorders were more common in those with autism spectrum disorders. The overlap between DSM-IV personality disorder categories was high, and they seem less clinically useful in this context. CONCLUSIONS: ADHD and autism spectrum disorders are associated with specific temperament configurations and an increased risk of personality disorders and deficits in character maturation.
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4.
  • Andersson, Mattias K, 1979, et al. (författare)
  • The multifunctional FUS, EWS and TAF15 proto-oncoproteins show cell type-specific expression patterns and involvement in cell spreading and stress response
  • 2008
  • Ingår i: BMC Cell Biology. - : Springer Science and Business Media LLC. - 1471-2121. ; 9
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: FUS, EWS and TAF15 are structurally similar multifunctional proteins that were first discovered upon characterization of fusion oncogenes in human sarcomas and leukemias. The proteins belong to the FET (previously TET) family of RNA-binding proteins and are implicated in central cellular processes such as regulation of gene expression, maintenance of genomic integrity and mRNA/microRNA processing. In the present study, we investigated the expression and cellular localization of FET proteins in multiple human tissues and cell types. RESULTS: FUS, EWS and TAF15 were expressed in both distinct and overlapping patterns in human tissues. The three proteins showed almost ubiquitous nuclear expression and FUS and TAF15 were in addition present in the cytoplasm of most cell types. Cytoplasmic EWS was more rarely detected and seen mainly in secretory cell types. Furthermore, FET expression was downregulated in differentiating human embryonic stem cells, during induced differentiation of neuroblastoma cells and absent in terminally differentiated melanocytes and cardiac muscle cells. The FET proteins were targeted to stress granules induced by heat shock and oxidative stress and FUS required its RNA-binding domain for this translocation. Furthermore, FUS and TAF15 were detected in spreading initiation centers of adhering cells. CONCLUSION: Our results point to cell-specific expression patterns and functions of the FET proteins rather than the housekeeping roles inferred from earlier studies. The localization of FET proteins to stress granules suggests activities in translational regulation during stress conditions. Roles in central processes such as stress response, translational control and adhesion may explain the FET proteins frequent involvement in human cancer.
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5.
  • Bejerot, Susanne, 1955-, et al. (författare)
  • The Brief Obsessive-Compulsive Scale (BOCS) : a self-report scale for OCD and obsessive-compulsive related disorders
  • 2014
  • Ingår i: Nordic Journal of Psychiatry. - : Informa Healthcare. - 0803-9488 .- 1502-4725. ; 68:8, s. 549-559
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: The Brief Obsessive Compulsive Scale (BOCS), derived from the Yale-Brown Obsessive-Compulsive Scale (Y-BOCS) and the children's version (CY-BOCS), is a short self-report tool used to aid in the assessment of obsessive-compulsive symptoms and diagnosis of obsessive-compulsive disorder (OCD). It is widely used throughout child, adolescent and adult psychiatry settings in Sweden but has not been validated up to date.Aim: The aim of the current study was to examine the psychometric properties of the BOCS amongst a psychiatric outpatient population.Method: The BOCS consists of a 15-item Symptom Checklist including three items (hoarding, dysmorphophobia and self-harm) related to the DSM-5 category "Obsessive-compulsive related disorders", accompanied by a single six-item Severity Scale for obsessions and compulsions combined. It encompasses the revisions made in the Y-BOCS-II severity scale by including obsessive-compulsive free intervals, extent of avoidance and excluding the resistance item. 402 adult psychiatric outpatients with OCD, attention-deficit/hyperactivity disorder, autism spectrum disorder and other psychiatric disorders completed the BOCS.Results: Principal component factor analysis produced five subscales titled "Symmetry", "Forbidden thoughts", "Contamination", "Magical thoughts" and "Dysmorphic thoughts". The OCD group scored higher than the other diagnostic groups in all subscales (P < 0.001). Sensitivities, specificities and internal consistency for both the Symptom Checklist and the Severity Scale emerged high (Symptom Checklist: sensitivity = 85%, specificities = 62-70% Cronbach's alpha = 0.81; Severity Scale: sensitivity = 72%, specificities = 75-84%, Cronbach's alpha = 0.94).Conclusions: The BOCS has the ability to discriminate OCD from other non-OCD related psychiatric disorders. The current study provides strong support for the utility of the BOCS in the assessment of obsessive-compulsive symptoms in clinical psychiatry.
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6.
  • 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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7.
  • 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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8.
  • Gustavson, Christina, et al. (författare)
  • Age at onset of substance abuse: a crucial covariate of psychopathic traits and aggression in adult offenders.
  • 2007
  • Ingår i: Psychiatry research. - : Elsevier BV. - 0165-1781 .- 1872-7123. ; 153:2, s. 195-8
  • Tidskriftsartikel (refereegranskat)abstract
    • To examine age at onset of substance abuse in relation to other factors of relevance to criminal behavior, we compared Life History of Aggression (LHA) scores, traits of psychopathy according to the Psychopathy Checklist--Revised (PCL-R), and violent recidivism in 100 violent offenders with early (before the age of 18) versus late onset of abuse or dependence. Of 56 subjects with a history of alcohol and/or drug abuse, an early onset was ascertained in 31. The duration of abuse did not correlate with the LHA and PCL-R scores or with violent recidivism, but the age at onset correlated strongly with all these factors and also remained their strongest correlate in multivariate models including childhood-onset attention deficit/hyperactivity disorder, conduct disorder, and drug abuse as covariates. Strong mathematical associations with aggression, psychopathy, and recidivism pointed to age at onset of substance abuse as a marker of possible complications that require preventive social, educational and medical measures.
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9.
  • Hansson, Sara Lina, et al. (författare)
  • The Autism--Tics, AD/HD and other Comorbidities (A-TAC) telephone interview: convergence with the Child Behavior Checklist (CBCL).
  • 2010
  • Ingår i: Nordic Journal of Psychiatry. - : Informa UK Limited. - 0803-9488 .- 1502-4725. ; 64:3, s. 218-224
  • Tidskriftsartikel (refereegranskat)abstract
    • Objective: To compare telephone interview screening for child psychiatric/neuropsychiatric disorders using the inventory of Autism-Tics, Attention deficit/hyperactivity disorder (AD/HD) and other Comorbidities (A-TAC) with results from the Child Behavior Checklist (CBCL). Background: The A-TAC is a parent telephone interview focusing on autism spectrum disorders (ASDs) and co-existing problems, developed for lay interviewers. Subjects and methods: A-TAC telephone interviews and CBCL questionnaires were obtained from parents of 106 Swedish twin pairs aged 9 and 12 years. Results: Correlations between A-TAC modules and CBCL scales aimed at measuring similar concepts were generally significant albeit modest, with correlation coefficients ranging from 0.30 through 0.55. Conclusion: The A-TAC has convergent validity with the CBCL in several problem areas, but the A-TAC also provides more detailed and specific assessments of ASD symptoms and related neuropsychiatric problems.
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10.
  • Hedman, Kristina, et al. (författare)
  • Orimlig ökning av adhd-diagnoser
  • 2024
  • Ingår i: Svenska dagbladet. - 1101-2412.
  • Tidskriftsartikel (populärvet., debatt m.m.)abstract
    • Sveriges neuro­psykologers förening: Ökningen av adhd-diagnoser är ett samhälls­problem som inte kan lösas enbart av vården, och lösningen finns knappast i en växande mängd av utredningar, diagnoser och medicinering.
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11.
  • Hofvander, Björn, et al. (författare)
  • Life History of Aggression scores are predicted by childhood hyperactivity, conduct disorder, adult substance abuse, and low cooperativeness in adult psychiatric patients.
  • 2011
  • Ingår i: Psychiatry Research. - : Elsevier BV. - 0165-1781 .- 1872-7123. ; 185:1-2, s. 280-285
  • Tidskriftsartikel (refereegranskat)abstract
    • The prevention of aggressive behaviours is a core priority for psychiatric clinical work, but the association between the diagnostic concepts used in psychiatry and aggression remains largely unknown. Outpatients referred for psychiatric evaluations of childhood-onset neuropsychiatric disorders (n = 178) and perpetrators of violent crimes referred to pre-trial forensic psychiatric investigations (n = 92) had comprehensive, instrument-based, psychiatric assessments, including the Life History of Aggression (LHA) scales. Total and subscale LHA scores were compared to the categorical and dimensional diagnoses of childhood and adult DSM-IV axis I and II mental disorders, general intelligence (IQ), Global Assessment of Functioning (GAF), and personality traits according to the Temperament and Character Inventory (TCI). Overall, the two groups had similar LHA scores, but the offender group scored higher on the Antisocial subscale. Higher total LHA scores were independently associated with the hyperactivity facet of attention-deficit/hyperactivity disorder (AD/HD), childhood conduct disorder, substance-related disorders, and low scores on the Cooperativeness character dimension according to the TCI. IQ and GAF-scores were negatively correlated with the LHA subscale Self-directed aggression. Autistic traits were inversely correlated with aggression among outpatients, while the opposite pattern was noted in the forensic group. The findings call for assessments of aggression-related behaviours in all psychiatric settings.
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12.
  • Hofvander, Björn, et al. (författare)
  • Psychiatric and psychosocial problems in adults with normal-intelligence autism spectrum disorders.
  • 2009
  • Ingår i: BMC Psychiatry. - 1471-244X. ; 9
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: Individuals with autism spectrum disorders (ASDs) often display symptoms from other diagnostic categories. Studies of clinical and psychosocial outcome in adult patients with ASDs without concomitant intellectual disability are few. The objective of this paper is to describe the clinical psychiatric presentation and important outcome measures of a large group of normal-intelligence adult patients with ASDs. METHODS: Autistic symptomatology according to the DSM-IV-criteria and the Gillberg & Gillberg research criteria, patterns of comorbid psychopathology and psychosocial outcome were assessed in 122 consecutively referred adults with normal intelligence ASDs. The subjects consisted of 5 patients with autistic disorder (AD), 67 with Asperger's disorder (AS) and 50 with pervasive developmental disorder not otherwise specified (PDD NOS). This study group consists of subjects pooled from two studies with highly similar protocols, all seen on an outpatient basis by one of three clinicians. RESULTS: Core autistic symptoms were highly prevalent in all ASD subgroups. Though AD subjects had the most pervasive problems, restrictions in non-verbal communication were common across all three subgroups and, contrary to current DSM criteria, so were verbal communication deficits. Lifetime psychiatric axis I comorbidity was very common, most notably mood and anxiety disorders, but also ADHD and psychotic disorders. The frequency of these diagnoses did not differ between the ASD subgroups or between males and females. Antisocial personality disorder and substance abuse were more common in the PDD NOS group. Of all subjects, few led an independent life and very few had ever had a long-term relationship. Female subjects more often reported having been bullied at school than male subjects. CONCLUSION: ASDs are clinical syndromes characterized by impaired social interaction and non-verbal communication in adulthood as well as in childhood. They also carry a high risk for co-existing mental health problems from a broad spectrum of disorders and for unfavourable psychosocial life circumstances. For the next revision of DSM, our findings especially stress the importance of careful examination of the exclusion criterion for adult patients with ASDs.
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13.
  • Johnsson, Malte, et al. (författare)
  • Blame attribution and guilt feelings in violent offenders
  • 2014
  • Ingår i: Journal of Forensic Psychiatry & Psychology. - : Informa UK Limited. - 1478-9957 .- 1478-9949. ; 25:2, s. 212-223
  • Tidskriftsartikel (refereegranskat)abstract
    • Offenders with high psychopathic traits and/or antisocial personality disorder (ASPD) are hypothesised to experience less guilt and less responsibility for their actions than offenders without these problems. These hypotheses were tested and partly substantiated. The study investigates blame attributions and guilt feeling using Gudjonsson Blame Attribution Inventory-Revised (GBAI-R) for 177 young male violent offenders. GBAI scores were compared to ASPD and psychopathy according to the Psychopathy Checklist-Revised. Results showed that individuals with ASPD and those with higher degrees of psychopathy tended to report significantly less guilt and higher degree of mental control than other subjects. Another finding was a weak relationship between ASPD, high scores on psychopathic traits and external attribution. We suggest these results might be explained by admitting poor mental control may be extra difficult for individuals belonging to either of these groups and that the external attribution items do not separate causal from moral responsibility.
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14.
  • Kerekes, Nora, 1969, et al. (författare)
  • The Swedish version of the parent-rated Junior Temperament and Character Inventory (J-TCI).
  • 2010
  • Ingår i: Psychological reports. - 0033-2941. ; 107:3, s. 715-25
  • Tidskriftsartikel (refereegranskat)abstract
    • To evaluate the psychometric characteristics of the Swedish version of the Junior Temperament and Character Inventory (J-TCI), it was sent to parents of 9- and 12-yr.-old twins in Sweden. The final number of responders was 196 parents who rated 92 female and 104 male twin pairs. The inventory of one twin, randomly chosen from each pair, was included in the analyses. Reward Dependence, Persistence, and Cooperativeness were scored higher in girls; Novelty Seeking was higher in the 9-yr.-olds and Persistence in the 12-yr.-olds. Pearson's correlations showed that some dimensions were not statistically independent from each other, even if the covariance was moderate. Internal consistency (Cronbach's alpha) was satisfactory for Harm Avoidance, Novelty Seeking, Self-Directedness, and Cooperativeness (.68-.81), while it was lower in those dimensions that had fewer items. The Swedish parent version of the J-TCI shared about the same psychometric characteristics as found in international samples.
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15.
  • Konyukh, Marina, et al. (författare)
  • Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.
  • 2011
  • Ingår i: PLoS One. - : Public Library of Science (PLoS). - 1932-6203. ; 6:3
  • Tidskriftsartikel (refereegranskat)abstract
    • Background Autism spectrum disorders (ASD) are a group of severe childhood neurodevelopmental disorders with still unknown etiology. One of the most frequently reported associations is the presence of recurrent de novo or inherited microdeletions and microduplications on chromosome 16p11.2. The analysis of rare variations of 8 candidate genes among the 27 genes located in this region suggested SEZ6L2 as a compelling candidate. Methodology/Principal Findings We further explored the role of SEZ6L2 variations by screening its coding part in a group of 452 individuals, including 170 patients with ASD and 282 individuals from different ethnic backgrounds of the Human Genome Diversity Panel (HGDP), complementing the previously reported screening. We detected 7 previously unidentified non-synonymous variations of SEZ6L2 in ASD patients. We also identified 6 non-synonymous variations present only in HGDP. When we merged our results with the previously published, no enrichment of non-synonymous variation in SEZ6L2 was observed in the ASD group compared with controls. Conclusions/Significance Our results provide an extensive ascertainment of the genetic variability of SEZ6L2 in human populations and do not support a major role for SEZ6L2 sequence variations in the susceptibility to ASD.
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16.
  • Larson, Tomas, 1967, et al. (författare)
  • The autism--tics, AD/HD and other comorbidities inventory (A-TAC): further validation of a telephone interview for epidemiological research.
  • 2010
  • Ingår i: BMC Psychiatry. - 1471-244X. ; 10
  • Tidskriftsartikel (refereegranskat)abstract
    • ABSTRACT: BACKGROUND: Reliable, valid, and easy-to-administer instruments to identify possible caseness and to provide proxies for clinical diagnoses are needed in epidemiological research on child and adolescent mental health.The aim of this study is to provide further validity data for a parent telephone interview focused on Autism - Tics, Attention-deficit/hyperactivity disorder (AD/HD), and other Comorbidities (A-TAC), for which reliability and preliminary validation data have been previously reported. METHODS: Parents of 91 children clinically diagnosed at a specialized Child Neuropsychiatric Clinic, 366 control children and 319 children for whom clinical diagnoses had been previously assigned were interviewed by the A-TAC over the phone. Interviewers were blind to clinical information. Different scores from the A-TAC were compared to the diagnostic outcome. RESULTS: Areas under ROC curves for interview scores as predictors of clinical diagnoses were around 0.95 for most disorders, including autism spectrum disorders (ASDs), attention deficit/hyperactivity disorder (AD/HD), tic disorders, developmental coordination disorders (DCD) and learning disorders, indicating excellent screening properties. Screening cut-off scores with sensitivities above 0.90 (0.95 for ASD and AD/HD) were established for most conditions, as well as cut-off scores to identify proxies to clinical diagnoses with specificities above 0.90 (0.95 for ASD and AD/HD). CONCLUSIONS: The previously reported validity of the A-TAC was supported by this larger replication study using broader scales from the A-TAC-items and a larger number of diagnostic categories. Short versions of algorithms worked as well as larger. Different cut-off levels for screening versus identifying proxies for clinical diagnoses are warranted. Data on the validity for mood problems and oppositional defiant/conduct problems are still lacking. Although the A-TAC is principally intended for epidemiological research and general investigations, the instrument may be useful as a tool to collect information in clinical practice as well.
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17.
  • Melke, Jonas, 1971, et al. (författare)
  • Abnormal melatonin synthesis in autism spectrum disorders.
  • 2008
  • Ingår i: Molecular Psychiatry. - : Springer Science and Business Media LLC. - 1359-4184 .- 1476-5578. ; 13:1, s. 90-98
  • Tidskriftsartikel (refereegranskat)abstract
    • Melatonin is produced in the dark by the pineal gland and is a key regulator of circadian and seasonal rhythms. A low melatonin level has been reported in individuals with autism spectrum disorders (ASD), but the underlying cause of this deficit was unknown. The ASMT gene, encoding the last enzyme of melatonin synthesis, is located on the pseudo-autosomal region 1 of the sex chromosomes, deleted in several individuals with ASD. In this study, we sequenced all ASMT exons and promoters in individuals with ASD (n=250) and compared the allelic frequencies with controls (n=255). Non-conservative variations of ASMT were identified, including a splicing mutation present in two families with ASD, but not in controls. Two polymorphisms located in the promoter (rs4446909 and rs5989681) were more frequent in ASD compared to controls (P=0.0006) and were associated with a dramatic decrease in ASMT transcripts in blood cell lines (P=2 x 10(-10)). Biochemical analyses performed on blood platelets and/or cultured cells revealed a highly significant decrease in ASMT activity (P=2 x 10(-12)) and melatonin level (P=3 x 10(-11)) in individuals with ASD. These results indicate that a low melatonin level, caused by a primary deficit in ASMT activity, is a risk factor for ASD. They also support ASMT as a susceptibility gene for ASD and highlight the crucial role of melatonin in human cognition and behavior.
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18.
  • Nilsson, Thomas, 1954, et al. (författare)
  • Temperament and Character in Childhood-Onset Neurodevelopmental Disorders (Autism Spectrum Disorders and ADHD)
  • 2019
  • Ingår i: Personality and Brain Disorders: Associations and Interventions. - Cham, Switzerland : Springer. - 9783319900650 ; , s. 101-142
  • Bokkapitel (refereegranskat)abstract
    • Neurodevelopmental disorders, such as Autism Spectrum Disorders (ASD) and Attention-Deficit/Hyperactivity Disorder (ADHD), express aberrant neurocognitive functions in social communication, flexibility, and executive control from an early age, not seldom casting extensive consequences long into adulthood. They exist along a continuum from severe disorders to broader phenotypes or “shadow syndromes”. In recent years, several studies have assessed the relation between these conditions and associated personality traits in terms of Cloningers’ temperament and character model in both children and adults. The aim has been to clarify to what extent neurodevelopmental challenges are associated with adult personality and elucidate the link between symptom severity and specific personality traits. Findings give support for specific temperaments (previously known as constitutions) with high Novelty Seeking in ADHD and low Reward Dependence with high Harm Avoidance in ASD , while low scores on the character dimensions of Self-Directedness and Cooperativeness is a shared feature of both disorders (and more so the more severe the disorder is). This replicates previous findings of the same character deficits across adult mental disorders, forming a common ground for mental health problems. This pattern is proposed to be a window of opportunity for treatment interventions aiming at enhancing agency, communion, resilience and well-being.
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19.
  • Nydén, Agneta, 1945, et al. (författare)
  • Adults with Asperger syndrome with and without a cognitive profile associated with “non-verbal learning disability.” A brief report
  • 2010
  • Ingår i: Research in Autism Spectrum Disorders. - : Elsevier BV. - 1750-9467. ; 4:4, s. 612-618
  • Tidskriftsartikel (refereegranskat)abstract
    • Asperger syndrome (AS) and non-verbal learning disability (NLD) are both characterized by impairments in motor coordination, visuo-perceptual abilities, pragmatics and comprehension of language and social understanding. NLD is also defined as a learning disorder affecting functions in the right cerebral hemisphere. The present study investigates if individuals with AS and a cognitive profile consistent with NLD (i.e. verbal IQ > performance IQ) would also have other problems inherent in NLD, visual memory and attention, reading/writing ability and arithmetic in the presence of preserved verbal memory and attention. Forty-four individuals with AS were assessed with a battery of neuropsychological tests. Reading/writing and arithmetic abilities were investigated. Education and global social adaptive levels were studied. Very few AS participants, even though with NLD cognitive profile showed problems with any of the neurocognitive abilities or academic achievements. However, all had poor global social adaptive functioning and few had paid employment, regardless of their cognitive profile. The present study suggests that AS and NLD are two different conditions even though some individuals in both groups have the verbal IQ > performance IQ profile that has been proposed to be typical of both AS and NLD.
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20.
  • Nydén, Agneta, 1945, et al. (författare)
  • Adults with autism spectrum disorders and ADHD neuropsychological aspects.
  • 2010
  • Ingår i: Research in Developmental Disabilities. - : Elsevier BV. - 0891-4222 .- 1873-3379. ; 31:6, s. 1659-1668
  • Tidskriftsartikel (refereegranskat)abstract
    • The purpose of the present study was to assess which types of neuropsychological deficits appear to be most commonly associated with autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD) in adults. The effect of the combination of ASD with ADHD (ASD/ADHD) was also studied. One hundred and sixty-one adult individuals (>/=18 years of age) were included in the study. None had full scale IQ less than 71. The neuropsychological investigations included measures of intellectual ability, learning and memory, attention/executive function and theory of mind. The three diagnostic groups showed reduced performance in most cognitive domains. However, within these domains differentiating distinct features could be seen. The dysfunctions of the ASD/ADHD group cannot be seen as a summary of the dysfunctions found in the ASD and ADHD groups. The ADHD seemed to have the most severe neuropsychological impairments of the three groups. No domain-specific deficit typical of any of the diagnostic groups was found.
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21.
  • Ranji, Parmida, et al. (författare)
  • Deciphering the role of FUS::DDIT3 expression and tumor microenvironment in myxoid liposarcoma development
  • 2024
  • Ingår i: Journal of Translational Medicine. - : BioMed Central Ltd. - 1479-5876. ; 22
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Myxoid liposarcoma (MLS) displays a distinctive tumor microenvironment and is characterized by the FUS::DDIT3 fusion oncogene, however, the precise functional contributions of these two elements remain enigmatic in tumor development. Methods: To study the cell-free microenvironment in MLS, we developed an experimental model system based on decellularized patient-derived xenograft tumors. We characterized the cell-free scaffold using mass spectrometry. Subsequently, scaffolds were repopulated using sarcoma cells with or without FUS::DDIT3 expression that were analyzed with histology and RNA sequencing. Results: Characterization of cell-free MLS scaffolds revealed intact structure and a large variation of protein types remaining after decellularization. We demonstrated an optimal culture time of 3 weeks and showed that FUS::DDIT3 expression decreased cell proliferation and scaffold invasiveness. The cell-free MLS microenvironment and FUS::DDIT3 expression both induced biological processes related to cell-to-cell and cell-to-extracellular matrix interactions, as well as chromatin remodeling, immune response, and metabolism. Data indicated that FUS::DDIT3 expression more than the microenvironment determined the pre-adipocytic phenotype that is typical for MLS. Conclusions: Our experimental approach opens new means to study the tumor microenvironment in detail and our findings suggest that FUS::DDIT3-expressing tumor cells can create their own extracellular niche.
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22.
  • Ståhlberg, Ola, et al. (författare)
  • A 3-year follow-up study of Swedish youths committed to juvenile institutions : Frequent occurrence of criminality and health care use regardless of drug abuse
  • 2017
  • Ingår i: International Journal of Law and Psychiatry. - : Elsevier BV. - 0160-2527 .- 1873-6386. ; 50, s. 52-60
  • Tidskriftsartikel (refereegranskat)abstract
    • This 3-year follow-up study compares background variables, extent of criminality and criminal recidivism in the form of all court convictions, the use of inpatient care, and number of early deaths in Swedish institutionalized adolescents (N = 100) with comorbid substance use disorders (SUD) and Attention-Deficit/Hyperactivity Disorder (ADHD) (n = 25) versus those with SUD but no ADHD (n = 30), and those without SUD (n = 45). In addition it aims to identify whether potential risk factors related to these groups are associated with persistence in violent criminality. Results showed almost no significant differences between the three diagnostic groups, but the SUD plus ADHD group displayed a somewhat more negative outcome with regard to criminality, and the non-SUD group stood out with very few drug related treatment episodes. However, the rate of criminal recidivism was strikingly high in all three groups, and the use of inpatient care as well as the number of untimely deaths recorded in the study population was dramatically increased compared to a age matched general population group. Finally, age at first conviction emerged as the only significant predictor of persistence in violent criminality with an AUC of .69 (CI (95%) .54–.84, p = .02). Regardless of whether SUD, with or without ADHD, is at hand or not, institutionalized adolescents describe a negative course with extensive criminality and frequent episodes of inpatient treatment, and thus requires a more effective treatment than present youth institutions seem to offer today. However, the few differences found between the three groups, do give some support that those with comorbid SUD and ADHD have the worst prognosis with regard to criminality, health, and untimely death, and as such are in need of even more extensive treatment interventions.
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23.
  • Ståhlberg, Ola, et al. (författare)
  • Autism Spectrum Disorders and Coexisting Mental Health Problems
  • 2015
  • Ingår i: Autism Spectrum Disorders: Phenotypes, Mechanisms and Treatment (Eds). M Leboyer, & P Chaste.. - Basel : Karger. - 9783318026016 ; , s. 5-19
  • Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
    • It is rule rather than an exception that mental disorders occur in complex and manifold forms, and a number of models have been proposed to explain this co-occurrence or co-‘morbidity’. Autism spectrum disorders (ASD, i.e. autistic disorder, Asperger syndrome, and pervasive developmental disorder – not otherwise specified) are no exemption. Here, the literature on ASD co-occurring with developmental disorders (such as ADHD), learning disorders, and problems that typically arise during childhood (e.g. oppositional defiant disorder, conduct disorder), and adulthood (e.g. anxiety, affective/mood disorders, and psychotic disorders) will be reviewed. The patterns of mental disorders co-occurring with ASD could not be summarized into any consistent and easy-to-interpret model of co-morbidity. Thus, research on ASD should consider and not rule out coexisting mental conditions (and include persons with complex problems in studies), clinical assessments, and evaluations. Ignoring the complexity of co-occurring conditions will have detrimental effects in research, counteracting our understanding of the etiology behind ASD and the development of evidence-based, comprehensive treatment strategies.
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24.
  • Ståhlberg, Ola, et al. (författare)
  • Bipolar disorder, schizophrenia, and other psychotic disorders in adults with childhood onset AD/HD and/or autism spectrum disorders.
  • 2004
  • Ingår i: Journal of neural transmission (Vienna, Austria : 1996). - : Springer Science and Business Media LLC. - 0300-9564 .- 1435-1463. ; 111:7, s. 891-902
  • Tidskriftsartikel (refereegranskat)abstract
    • Individuals with attention-deficit/hyperactivity disorder (AD/HD) and autism spectrum disorders (ASD) often display symptoms from other diagnostic categories. Exclusion criteria in the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) and the International Statistical Classification of Diseases and Related Health Problems (ICD-10) impede the use of categorical diagnoses to describe the particular problem constellation in a patient. In this study, we describe the prevalence and patterns of comorbid bipolar and psychotic disorders in 241 consecutively referred adult patients with AD/HD and/or ASD. Thirty per cent of patients with AD/HD had comorbid ASD and 38% of patients with ASD had comorbid AD/HD. Of the subjects with ASD, 7% had bipolar disorder with psychotic features, and 7.8% had schizophrenia or another psychotic disorder. The corresponding figures for the patients with AD/HD were 5.0% and 5.0%, respectively. Current diagnostic criteria have to be revised to acknowledge the comorbidity of bipolar and/or psychotic disorders in AD/HD and ASD.
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25.
  • Ståhlberg, Ola (författare)
  • Comorbidity across childhood-onset neuropsychiatric disorders
  • 2015
  • Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
    • Background: Attention-Deficit/Hyperactivity Disorder (ADHD), and Autism Spectrum Disorders (ASDs) are clinically found to be comorbid with each other and with other psychiatric conditions to a greater extent than what is previously assumed. It is, however, difficult to capture this complexity using current diagnostic systems, where exclusion criteria prevent simultaneous diagnosis. Thus, in order to describe this complexity and its consequences for the individual, it is important to describe actual comorbidity in different clinical contexts. Aims: The overall purpose of this thesis was to describe the prevalence and comorbidity between ASD and ADHD, and other psychiatric conditions. Specific aims were to: describe comorbidity in a group of adult out-patients with ADHD and/or ASDs (Paper I); investigate the prevalence of personality disorders and describe the personality profiles of the same group (Paper II); describe psychiatric symptoms associated with aggressive behaviors in adult psychiatric patients (Paper III); describe comorbidity in a group of adolescents placed in special youth institutions (Paper IV); and to investigate whether comorbid ADHD and substance abuse is associated with a more negative outcome, that is, more criminal recidivism, health care needs, and untimely death (Paper V). Methods and results: Paper I-II are based on diagnostic and demographic cross-sectional data showing that ADHD and ASD overlap greatly with each other, and that there is a significant overlap between ADHD and bipolar disorder and ASDs and psychosis. Personality disorder diagnoses are also common in these diagnostic groups, showing specific personality profiles associated with ADHD, ASD, and those with comorbid ADHD and ASD. In Paper III aggressive behaviors in a group of policlinic psychiatric patients have been compared with a group of forensic psychiatric patients, and both groups reported similar high levels of aggressive scores. Paper IV is based on cross-sectional data on institutionalized adolescents, which in Paper V has been combined with longitudinal follow-up data. Psychiatric diagnoses in general, and specifically the occurrence of ADHD and ASD, is high. Criminal recidivism and health care use was overall very high, while there were small differences between the groups with comorbid ADHD and SUD, SUD only, and, finally, no SUD in respect to criminal recidivism, health care needs and untimely death. Conclusion: Comorbidity between ADHD and ASD and other psychiatric diagnoses are common among psychiatric patients, and in many cases associated with character immaturity, aggression and personality disorders. It also seems as the outcome over time tends to worsening with increasing comorbidity, especially in cases with comorbid substance abuse and neuropsychiatric disorders. These complex states constitute diagnostic and treatment challenges for psychiatry and its classic divisions between child and adolescent versus adult psychiatry, mental illness versus personality disorders, and psychological versus medical interventions.
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