SwePub - sökning: WFRF:(Gillberg Christopher 195...

Numrering	Referens	Omslagsbild	Hitta
1.	Gillberg, Christopher, 1950, et al. (författare) Mortality in autism: a prospective longitudinal community-based study. 2010 Ingår i: Journal of Autism and Developmental Disorders. - : Springer Science and Business Media LLC. - 0162-3257 .- 1573-3432. ; 40:3, s. 352-357 Tidskriftsartikel (refereegranskat)abstract The purposes of the present study were to establish the mortality rate in a representative group of individuals (n = 120) born in the years 1962-1984, diagnosed with autism/atypical autism in childhood and followed up at young adult age (>/=18 years of age), and examine the risk factors and causes of death. The study group, which constituted a total population sample of children with these diagnoses, were followed up in Swedish registers. Nine (7.5%) of the 120 individuals with autism had died at the time of follow-up, a rate 5.6 times higher than expected. The mortality rate was significantly higher among the females. Associated medical disorders (including epilepsy with cognitive impairment) and accidents accounted for most of the deaths, and it was not possible to determine whether autism "per se" actually carries an increased mortality risk.
2.	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.
3.	Wentz, Elisabet, 1964, et al. (författare) Bone density 11 years after anorexia nervosa onset in a controlled study of 39 cases. 2003 Ingår i: International Journal of Eating Disorders. - 0276-3478. ; 34:3, s. 314-318 Tidskriftsartikel (refereegranskat)abstract Objective To evaluate bone mineral density (BMD) and body composition 11 years after the onset of anorexia nervosa (AN). Method Thirty-nine AN subjects (36 females, 3 males), selected from a population-based sample, and 46 matched controls (COMP; 43 females, 3 males) were examined by using double-energy X-ray absorptiometry (DXA). Only 2 women still had AN. None of the men had AN. Results The females in the AN and COMP groups did not differ regarding BMD, nor was there a difference across female groups concerning body mass index (BMI). The female AN group had a significantly lower percentage of body fat. BMD among females in the AN group was related to lowest BMI ever. There was an inverse relationship between lumbar BMD and AN duration. Discussion Low BMD is not overrepresented among weight-restored AN patients at long-term follow-up compared with healthy women. However, the inverse relationship between BMD and AN duration may be indicative of a risk for osteopenia in patients with subchronic and chronic AN.
4.	Ahlsén, G, et al. (författare) Tuberous sclerosis in Western Sweden. A population study of cases with early childhood onset. 1994 Ingår i: Archives of Neurology. - 0003-9942. ; 51:1, s. 76-81 Tidskriftsartikel (refereegranskat)abstract To study the prevalence of tuberous sclerosis in children and adolescents.
5.	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.
6.	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.
7.	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.
8.	Anney, Richard, et al. (författare) A genome-wide scan for common alleles affecting risk for autism. 2010 Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 19:20, s. 4072-4082 Tidskriftsartikel (refereegranskat)abstract Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10(-8). When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10(-8) threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.
9.	Anney, Richard, et al. (författare) Individual common variants exert weak effects on the risk for autism spectrum disorders. 2012 Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 21:21, s. 4781-92 Tidskriftsartikel (refereegranskat)abstract While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASD), the contribution of common variation to ASD risk is less clear. To produce a more comprehensive picture, we report Stage 2 of the Autism Genome Project genome-wide association study, adding 1301 ASD families and bringing the total to 2705 families analysed (Stages 1 and 2). In addition to evaluating association of individual SNPs, we also sought evidence that common variants, en masse, might affect risk. Despite genotyping over a million SNPs covering the genome, no single SNP shows significant association with ASD or selected phenotypes at a genome-wide level. The SNP that achieves the smallest p-value from secondary analyses is rs1718101. It falls in CNTNAP2, a gene previously implicated in susceptibility for ASD. This SNP also shows modest association with age of word/phrase acquisition in ASD subjects, of interest because features of language development are also associated with other variation in CNTNAP2. By contrast, allele-scores derived from the transmission of common alleles to Stage 1 cases significantly predict case-status in the independent Stage 2 sample. Despite being significant, the variance explained by these allele scores was small (Vm< 1%). Based on results from individual SNPs and their en masse effect on risk, as inferred from the allele-score results, it is reasonable to conclude that common variants affect ASD risk but their individual effects are modest.
10.	Baird, G, et al. (författare) Autism is not necessarily a pervasive developmental disorder. 1991 Ingår i: Developmental medicine and child neurology. - 0012-1622. ; 33:4, s. 363-364 Tidskriftsartikel (refereegranskat)
11.	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.
12.	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.
13.	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.
14.	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.
15.	Buxbaum, Joseph D, et al. (författare) Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. 2007 Ingår i: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics. - : Wiley. - 1552-4841 .- 1552-485X. ; 144B:4, s. 484-491 Tidskriftsartikel (refereegranskat)abstract Mutations in the PTEN gene are associated with a broad spectrum of disorders, including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Lhermitte-Duclos disease. In addition, PTEN mutations have been described in a few patients with autism spectrum disorders (ASDs) and macrocephaly. In this study, we screened the PTEN gene for mutations and deletions in 88 patients with ASDs and macrocephaly (defined as >or=2 SD above the mean). Mutation analysis was performed by direct sequencing of all exons and flanking regions, as well as the promoter region. Dosage analysis of PTEN was carried out using multiplex ligation-dependent probe amplification (MLPA). No partial or whole gene deletions were observed. We identified a de novo missense mutation (D326N) in a highly conserved amino acid in a 5-year-old boy with autism, mental retardation, language delay, extreme macrocephaly (+9.6 SD) and polydactyly of both feet. Polydactyly has previously been described in two patients with Lhermitte-Duclos disease and CS and is thus likely to be a rare sign of PTEN mutations. Our findings suggest that PTEN mutations are a relatively infrequent cause of ASDs with macrocephaly. Screening of PTEN mutations is warranted in patients with autism and pronounced macrocephaly, even in the absence of other features of PTEN-related tumor syndromes.
16.	Casey, Jillian P, et al. (författare) A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. 2012 Ingår i: Human Genetics. - : Springer Science and Business Media LLC. - 0340-6717 .- 1432-1203. ; 131:4, s. 565-579 Tidskriftsartikel (refereegranskat)abstract Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (~90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy number variation, may account for a significant proportion of the genetic basis of ASD. We present a large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population differences to the genetic heterogeneity of ASD. Our strategy, homozygous haplotype (HH) mapping, aims to detect homozygous segments of identical haplotype structure that are shared at a higher frequency amongst ASD patients compared to parental controls. The analysis was performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs). We identified 25 known and 1,218 novel ASD candidate genes in the discovery analysis including CADM2, ABHD14A, CHRFAM7A, GRIK2, GRM3, EPHA3, FGF10, KCND2, PDZK1, IMMP2L and FOXP2. Furthermore, 10 of the previously reported ASD genes and 300 of the novel candidates identified in the discovery analysis were replicated in an independent sample of 1,182 trios. Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.10). Our findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data.
17.	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).
18.	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.
19.	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.
20.	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.
21.	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.
22.	Danielsson, Susanna, 1964, et al. (författare) Lack of effects of vagus nerve stimulation on drug-resistant epilepsy in eight pediatric patients with autism spectrum disorders: a prospective 2-year follow-up study. 2008 Ingår i: Epilepsy & Behavior. - : Elsevier BV. - 1525-5050. ; 12:2, s. 298-304 Tidskriftsartikel (refereegranskat)abstract Vagus nerve stimulation (VNS) therapy has been reported to reduce seizure frequency in some children with drug-resistant epilepsy who are not suitable candidates for epilepsy surgery. It has been suggested that there may be positive cognitive and/or behavioral effects independent of seizure control. We describe the effects of VNS with respect to seizure frequency, cognition, and autistic symptoms and behavior in eight children and adolescents with medically intractable epilepsy and autism. In comparison to baseline, seizure frequency had not decreased in anyone in our series at the 2-year follow-up. In three cases, minor improvements in general functioning were noted, but there were no positive cognitive effects. This open prospective pilot study highlights the need for more prospective studies to prevent false expectations of improvement in this severely disabled group.
23.	Danielsson, Susanna, 1964, et al. (författare) Psychopathology, psychosocial functioning, and IQ before and after epilepsy surgery in children with drug-resistant epilepsy. 2009 Ingår i: Epilepsy & Behavior. - : Elsevier BV. - 1525-5050. ; 14:2, s. 330-337 Tidskriftsartikel (refereegranskat)abstract This is a prospective study of a consecutive series of children undergoing epilepsy surgery. The main aims were to evaluate the heterogeneity with respect to psychopathology and IQ, and to use a global assessment scale (Children's Global Assessment Scale [CGAS]) to evaluate psychosocial functioning. Clinical neuropsychiatric and neuropsychological assessments were made at baseline and at the 2-year follow-up in 24 patients, and changes were analyzed at an individual level. Psychiatric disorders (mainly attention deficit hyperactivity disorder and/or autism spectrum disorders) were found in 17 of 24 at some point. All except one child with psychiatric diagnoses before surgery still had at least one diagnosis at follow-up. Intellectual ability remained stable in the majority of cases, both in individuals with and in individuals without mental retardation. The CGAS illustrated the consequences of the extensive comorbidity in this cohort. The behavioral problems had been undiagnosed despite parental concern in many cases, indicating an unrecognized need for services for children with drug-resistant epilepsy.
24.	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.
25.	Dinkler, Lisa, et al. (författare) Emotion recognition ability and viewing patterns in women with teenage-onset anorexia nervosa 2018 Ingår i: Nordic Eating Disorder Conference, Reykjavik. Konferensbidrag (övrigt vetenskapligt/konstnärligt)
26.	Dinkler, Lisa, et al. (författare) Viewing patterns during facial emotion recognition in recovered anorexia nervosa: an eye-tracking study. 2018 Ingår i: Eating Disorders Research Society (EDRS), Sydney. Konferensbidrag (övrigt vetenskapligt/konstnärligt)
27.	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.
28.	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.
29.	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.
30.	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.
31.	Fernell, Elisabeth, 1948, et al. (författare) Sätt barnmedicin och barnpsykiatri vid »samma bord«. : Sätt barnmedicin och barnpsykiatri vid »samma bord«. 2017 Ingår i: Lakartidningen. - 1652-7518. ; 114 Tidskriftsartikel (refereegranskat)
32.	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.
33.	Gillberg, Christopher, 1950, et al. (författare) Bengt Hagberg. 2015 Ingår i: Acta paediatrica (Oslo, Norway : 1992). - : Wiley. - 1651-2227 .- 0803-5253. ; 104:10 Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
34.	Gillberg, Christopher, 1950, et al. (författare) Co-existing disorders in ADHD -- implications for diagnosis and intervention. 2004 Ingår i: European Child & Adolescent Psychiatry. - : Springer Science and Business Media LLC. - 1018-8827 .- 1435-165X. ; 13 Suppl 1 Tidskriftsartikel (refereegranskat)abstract BACKGROUND: It is only recently that "comorbidity" in ADHD has come to the forefront as one of the most important aspects of the disorder. It is agreed that, often, these problems are at least as important as ADHD in contributing to the longer term outcome in the individual child. OBJECTIVE: To provide the reader with basic information about clinics and treatment of "comorbidity" in ADHD. METHOD: Review of the empirically based literature. RESULTS: ADHD exists in a surprisingly high frequency together with a broad range of child neuropsychiatric disorders. This is accompanied with many still unresolved treatment problems. CONCLUSION: It would not be appropriate to develop ADHD-services where clinicians would only have expertise in ADHD as such. Anyone working with children, adolescents and adults with ADHD would need to have training in general neuropsychiatry. Further research in this field is urgently needed.
35.	Gillberg, Christopher, 1950, et al. (författare) Extreme ("pathological") demand avoidance in autism: a general population study in the Faroe Islands. 2015 Ingår i: European child & adolescent psychiatry. - : Springer Science and Business Media LLC. - 1435-165X .- 1018-8827. ; 24:8, s. 979-984 Tidskriftsartikel (refereegranskat)abstract Research into Pathological Demand Avoidance (PDA), which has been suggested to be a subgroup within the Autism Spectrum Disorder (ASD), is almost nonexistent in spite of the frequent reference to the condition in clinical practice. The total population of 15 to 24-year-olds in the Faroe Islands was screened for ASD, and 67 individuals were identified who met diagnostic criteria for ASD (corresponding to a general population prevalence of ASD of almost 1%). Of these 67, 50 had parents who were interviewed using the Diagnostic Interview for Social and Communication Disorders (DISCO-11) which contains 15 "PDA-specific" items. Nine individuals met criteria for "possible clinical diagnosis of PDA", meaning that almost one in five of all with ASD also had indications of having had PDA in childhood, and that 0.18% of the total population had had the combination of ASD and PDA. However, at the time of assessment, only one of the 9 individuals with possible PDA still met "full criteria". PDA possibly constitutes a considerable minority of all cases with ASD diagnosed in childhood, but criteria for the condition are unlikely to be still met in later adolescence and early adult life.
36.	Gillberg, Christopher, 1950, et al. (författare) Infantile autism: a total population study of reduced optimality in the pre-, peri-, and neonatal period. 1983 Ingår i: Journal of Autism and Developmental Disorders. - 0162-3257. ; 13:2, s. 153-166 Tidskriftsartikel (refereegranskat)abstract Twenty-five autistic children, constituting a total population sample of children with infantile autism, were compared with 25 sex- and maternity-clinic-matched controls for occurrence of reduced optimality in the pre-, peri, and neonatal period, as noted in medical records. Autistic children showed greatly increased scores for reduced optimality, especially with regard to prenatal factors. The findings are at odds with early reports that children with autism had not suffered potential brain injury. The reasons for the discrepancy are discussed.
37.	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.
38.	Gillberg, Christopher, 1950, et al. (författare) The Asperger Syndrome (and high-functioning autism) Diagnostic Interview (ASDI): a preliminary study of a new structured clinical interview 2001 Ingår i: Autism. - 1362-3613. ; 5:1, s. 57-66 Tidskriftsartikel (refereegranskat)abstract The development of the Asperger Syndrome (and high-functioning autism) Diagnostic Interview (ASDI) is described. Preliminary data from a clinical study suggest that inter-rater reliability and test-retest stability may be excellent, with kappas exceeding 0.90 in both instances. The validity appears to be relatively good. No attempt was made in the present study to validate the instrument as regards the distinction between Asperger syndrome and high-functioning autism.
39.	Gillberg, Christopher, 1950, et al. (författare) [Zetterström puts himself in a corner]. 2001 Ingår i: Läkartidningen. - 0023-7205. ; 98:16, s. 1955-1956 Tidskriftsartikel (refereegranskat)
40.	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.
41.	Gillberg, I Carina, 1949, et al. (författare) Autism in immigrants: a population-based study from Swedish rural and urban areas. 1996 Ingår i: Journal of Intellectual Disability Research. - 0964-2633. ; 40 ( Pt 1), s. 24-31 Tidskriftsartikel (refereegranskat)abstract In a population study, 55 children aged 13 years and under were diagnosed as suffering from autistic disorder according to DSM-III-R criteria. Fifteen of these children (27%) were born to parents, at least one of whom had migrated to Sweden. These 15 cases were analysed in some detail with a view to finding possible background factors that could account for the relatively high prevalence of autism among some immigrant populations. In a few cases, autism or Asperger syndrome had been diagnosed in a native Swedish parent who went abroad in order to find a spouse. In several other cases, the child was the first child born in Sweden after the mother had moved there. The contribution of genetic and other prenatal factors to autism in immigrant populations is discussed.
42.	Gillberg, I Carina, 1949, et al. (författare) Boys with Asperger Syndrome Grow Up: Psychiatric and Neurodevelopmental Disorders 20Years After Initial Diagnosis. 2016 Ingår i: Journal of autism and developmental disorders. - : Springer Science and Business Media LLC. - 1573-3432 .- 0162-3257. ; 46:1, s. 74-82 Tidskriftsartikel (refereegranskat)abstract We examined comorbid psychiatric and neurodevelopmental disorders in fifty adult males (mean age 30years) with Asperger syndrome (AS) diagnosed in childhood and followed up prospectively for almost two decades (13-26years). Only three of the 50 men had never met criteria for an additional psychiatric/neurodevelopmental diagnosis and more than half had ongoing comorbidity (most commonly either ADHD or depression or both). Any psychiatric comorbidity increased the risk of poorer outcome. The minority of the AS group who no longer met criteria for a full diagnosis of an autism spectrum disorder were usually free of current psychiatric comorbidity. The high rate of psychiatric/neurodevelopmental comorbidities underscores the need for a full psychiatric/neurodevelopmental assessment at follow-up of males with AS.
43.	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.
44.	Gillberg, I Carina, 1949, et al. (författare) Three-year follow-up at age 10 of children with minor neurodevelopmental disorders. I: Behavioural problems. 1983 Ingår i: Developmental Medicine and Child Neurology. - 0012-1622. ; 25:4, s. 438-449 Tidskriftsartikel (refereegranskat)abstract Sixty-one children selected from a total population study of six-year-old children in Gothenburg and diagnosed as suffering from minimal brain dysfunction (MBD), motor perception dysfunction (MPD) or attention deficit disorder (ADD), and 51 normal control children were followed up at age 10 for behavioural problems. According to teachers', parents' and self-rating questionnaires, the index children, especially those with MBD, showed extremely high rates of severe behavioural/experiential problems at follow-up. None had been treated with stimulants or other drugs directed at alleviating the symptoms of the neurodevelopmental disorder. It is argued that the high rates of disturbances according to the questionnaire ratings are a true reflection of the psychiatric ill-health in these children.
45.	Gillberg, I Carina, 1949, et al. (författare) Three-year follow-up at age 10 of children with minor neurodevelopmental disorders. II: School achievement problems. 1983 Ingår i: Developmental Medicine and Child Neurology. - 0012-1622. ; 25:5, s. 566-573 Tidskriftsartikel (refereegranskat)abstract Part I of this paper considered the behavioural problems at age 10 of groups of children from a total population study of six-year-old children in Gothenburg and diagnosed according to strict criteria as suffering from minimal brain dysfunction (MBD), motor perception dysfunction (MPD) or attention deficit disorder (ADD), and a comparison group of normal children. Part II considers school achievement problems at age 10 among the same groups of children. 80 per cent of MBD children had obvious problems in school achievement, compared with 16 per cent in the comparison group. The MPD and ADD groups did not differ significantly from the comparison group in this respect. There was a considerable overlap between behaviour problems and school achievement problems, and the results indicate a gloomy prognosis for both types of problem among children with MBD.
46.	Goldberg, Peter, 1986, et al. (författare) Brief report: Ponderal index at birth predicts BMI outcome 30 years after anorexia nervosa onset. 2022 Ingår i: Eating Disorders Research Society (EDRS), Philadelphia, USA, September 2022.. Konferensbidrag (refereegranskat)
47.	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.
48.	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.
49.	Hansson, Sara Lina, et al. (författare) Psychiatric telephone interview with parents for screening of childhood autism - tics, attention-deficit hyperactivity disorder and other comorbidities (A-TAC): preliminary reliability and validity. 2005 Ingår i: The British Journal of Psychiatry. - : Royal College of Psychiatrists. - 0007-1250 .- 1472-1465. ; 187, s. 262-267 Tidskriftsartikel (refereegranskat)abstract BACKGROUND: Reliable, valid and easily administered screening instruments would greatly facilitate large-scale neuropsychiatric research. AIMS: To test a parent telephone interview focused on autism - tics, attention-deficit hyperactivity disorder (ADHD) and other comorbidities (A-TAC). METHOD: Parents of 84 children in contact with a child neuropsychiatric clinic and 27 control children were interviewed. Validity and interrater and test - retest reliability were assessed. RESULTS: Interrater and test - retest reliability were very good. Areas under receiver operating characteristics curves between interview scores and clinical diagnoses were around 0.90 for ADHD and autistic spectrum disorders, and above 0.70 for tics, learning disorders and developmental coordination disorder. Using optimal cut-off scores for autistic spectrum disorder and ADHD, good to excellent kappa levels for interviews and clinical diagnoses were noted. CONCLUSIONS: The A-TAC appears to be a reliable and valid instrument for identifying autistic spectrum disorder, ADHD, tics, learning disorders and developmental coordination disorder.
50.	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.

Skapa referenser, mejla, bekava och länka

Länka till träfflistan

Träfflista för sökning "WFRF:(Gillberg Christopher 1950) "

Avgränsa träffmängd

År