148 results on '"Nygren, Gudrun"'
Search Results
2. Intervention in autism based on Early Start Denver Model in a multiethnic immigrant setting—experiences of preschool staff involved in its implementation
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Linnsand, Petra, primary, Nygren, Gudrun, additional, Hermansson, Jonas, additional, Gillberg, Christopher, additional, and Carlsson, Emilia, additional
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- 2024
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3. A High Prevalence of Autism Spectrum Disorder in Preschool Children in an Immigrant, Multiethnic Population in Sweden: Challenges for Health Care
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Linnsand, Petra, Gillberg, Christopher, Nilses, Åsa, Hagberg, Bibbi, and Nygren, Gudrun
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Pervasive developmental disorders -- Statistics -- Risk factors -- Demographic aspects ,Preschool children -- Statistics -- Health aspects -- Psychological aspects ,Pediatric research ,Children of minorities -- Statistics -- Health aspects -- Psychological aspects ,Health - Abstract
This study examines the prevalence of autism spectrum disorder (ASD) in preschool children in an immigrant population. Possible risk factors for ASD and individual needs for the children and their families are described, as well as implications for health care. The estimated minimum prevalence for ASD in the area was 3.66% for children aged 2-5 years. Multiple risk factors and extensive individual needs for the children and their families were observed. The high prevalence of ASD and the plethora of needs in immigrant communities pose challenges for health care. A coordinated health care system is necessary to meet the many and individual needs., Author(s): Petra Linnsand [sup.1] [sup.2] , Christopher Gillberg [sup.1] , Åsa Nilses [sup.3] , Bibbi Hagberg [sup.1] , Gudrun Nygren [sup.1] [sup.2] Author Affiliations: (1) grid.8761.8, 0000 0000 9919 9582, [...]
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- 2021
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4. Individual common variants exert weak effects on the risk for autism spectrum disorders
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Anney, Richard, Klei, Lambertus, Pinto, Dalila, Almeida, Joana, Bacchelli, Elena, Baird, Gillian, Bolshakova, Nadia, Bölte, Sven, Bolton, Patrick F, Bourgeron, Thomas, Brennan, Sean, Brian, Jessica, Casey, Jillian, Conroy, Judith, Correia, Catarina, Corsello, Christina, Crawford, Emily L, de Jonge, Maretha, Delorme, Richard, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A, Folstein, Susan E, Fombonne, Eric, Gilbert, John, Gillberg, Christopher, Glessner, Joseph T, Green, Andrew, Green, Jonathan, Guter, Stephen J, Heron, Elizabeth A, Holt, Richard, Howe, Jennifer L, Hughes, Gillian, Hus, Vanessa, Igliozzi, Roberta, Jacob, Suma, Kenny, Graham P, Kim, Cecilia, Kolevzon, Alexander, Kustanovich, Vlad, Lajonchere, Clara M, Lamb, Janine A, Law-Smith, Miriam, Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett L, Liu, Xiao-Qing, Lombard, Frances, Lord, Catherine, Lotspeich, Linda, Lund, Sabata C, Magalhaes, Tiago R, Mantoulan, Carine, McDougle, Christopher J, Melhem, Nadine M, Merikangas, Alison, Minshew, Nancy J, Mirza, Ghazala K, Munson, Jeff, Noakes, Carolyn, Nygren, Gudrun, Papanikolaou, Katerina, Pagnamenta, Alistair T, Parrini, Barbara, Paton, Tara, Pickles, Andrew, Posey, David J, Poustka, Fritz, Ragoussis, Jiannis, Regan, Regina, Roberts, Wendy, Roeder, Kathryn, Roge, Bernadette, Rutter, Michael L, Schlitt, Sabine, Shah, Naisha, Sheffield, Val C, Soorya, Latha, Sousa, Inês, Stoppioni, Vera, Sykes, Nuala, Tancredi, Raffaella, Thompson, Ann P, Thomson, Susanne, Tryfon, Ana, Tsiantis, John, Van Engeland, Herman, Vincent, John B, Volkmar, Fred, Vorstman, JAS, Wallace, Simon, Wing, Kirsty, Wittemeyer, Kerstin, Wood, Shawn, Zurawiecki, Danielle, Zwaigenbaum, Lonnie, and Bailey, Anthony J
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Behavioral and Social Science ,Clinical Research ,Human Genome ,Mental Health ,Genetics ,Brain Disorders ,Pediatric ,Intellectual and Developmental Disabilities (IDD) ,Autism ,Prevention ,Aetiology ,2.1 Biological and endogenous factors ,Alleles ,Child ,Child Development Disorders ,Pervasive ,Female ,Gene Frequency ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Genotype ,Humans ,Language Development ,Male ,Membrane Proteins ,Nerve Tissue Proteins ,Polymorphism ,Single Nucleotide ,Risk Factors ,Biological Sciences ,Medical and Health Sciences ,Genetics & Heredity - Abstract
While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASD 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 the association of individual single nucleotide polymorphisms (SNPs), we also sought evidence that common variants, en masse, might affect the 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. In 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 the risk for ASD but their individual effects are modest.
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- 2012
5. A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder
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Casey, Jillian P, Magalhaes, Tiago, Conroy, Judith M, Regan, Regina, Shah, Naisha, Anney, Richard, Shields, Denis C, Abrahams, Brett S, Almeida, Joana, Bacchelli, Elena, Bailey, Anthony J, Baird, Gillian, Battaglia, Agatino, Berney, Tom, Bolshakova, Nadia, Bolton, Patrick F, Bourgeron, Thomas, Brennan, Sean, Cali, Phil, Correia, Catarina, Corsello, Christina, Coutanche, Marc, Dawson, Geraldine, de Jonge, Maretha, Delorme, Richard, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A, Folstein, Susan E, Foley, Suzanne, Fombonne, Eric, Freitag, Christine M, Gilbert, John, Gillberg, Christopher, Glessner, Joseph T, Green, Jonathan, Guter, Stephen J, Hakonarson, Hakon, Holt, Richard, Hughes, Gillian, Hus, Vanessa, Igliozzi, Roberta, Kim, Cecilia, Klauck, Sabine M, Kolevzon, Alexander, Lamb, Janine A, Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett L, Lord, Catherine, Lund, Sabata C, Maestrini, Elena, Mantoulan, Carine, Marshall, Christian R, McConachie, Helen, McDougle, Christopher J, McGrath, Jane, McMahon, William M, Merikangas, Alison, Miller, Judith, Minopoli, Fiorella, Mirza, Ghazala K, Munson, Jeff, Nelson, Stanley F, Nygren, Gudrun, Oliveira, Guiomar, Pagnamenta, Alistair T, Papanikolaou, Katerina, Parr, Jeremy R, Parrini, Barbara, Pickles, Andrew, Pinto, Dalila, Piven, Joseph, Posey, David J, Poustka, Annemarie, Poustka, Fritz, Ragoussis, Jiannis, Roge, Bernadette, Rutter, Michael L, Sequeira, Ana F, Soorya, Latha, Sousa, Inês, Sykes, Nuala, Stoppioni, Vera, Tancredi, Raffaella, Tauber, Maïté, Thompson, Ann P, Thomson, Susanne, Tsiantis, John, Van Engeland, Herman, Vincent, John B, Volkmar, Fred, Vorstman, Jacob AS, Wallace, Simon, Wang, Kai, Wassink, Thomas H, White, Kathy, and Wing, Kirsty
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Autism ,Genetics ,Mental Health ,Intellectual and Developmental Disabilities (IDD) ,Brain Disorders ,Biotechnology ,Pediatric ,Human Genome ,Aetiology ,2.1 Biological and endogenous factors ,Mental health ,Adult ,Child ,Child Development Disorders ,Pervasive ,Cluster Analysis ,Cohort Studies ,DNA Copy Number Variations ,Female ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Genotype ,Haplotypes ,Homozygote ,Humans ,Linkage Disequilibrium ,Male ,Middle Aged ,Nuclear Family ,Polymorphism ,Single Nucleotide ,Complementary and Alternative Medicine ,Paediatrics and Reproductive Medicine ,Genetics & Heredity - 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.
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- 2012
6. A genome-wide scan for common alleles affecting risk for autism
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Anney, Richard, Klei, Lambertus, Pinto, Dalila, Regan, Regina, Conroy, Judith, Magalhaes, Tiago R, Correia, Catarina, Abrahams, Brett S, Sykes, Nuala, Pagnamenta, Alistair T, Almeida, Joana, Bacchelli, Elena, Bailey, Anthony J, Baird, Gillian, Battaglia, Agatino, Berney, Tom, Bolshakova, Nadia, Bölte, Sven, Bolton, Patrick F, Bourgeron, Thomas, Brennan, Sean, Brian, Jessica, Carson, Andrew R, Casallo, Guillermo, Casey, Jillian, Chu, Su H, Cochrane, Lynne, Corsello, Christina, Crawford, Emily L, Crossett, Andrew, Dawson, Geraldine, de Jonge, Maretha, Delorme, Richard, Drmic, Irene, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A, Folstein, Susan E, Fombonne, Eric, Freitag, Christine M, Gilbert, John, Gillberg, Christopher, Glessner, Joseph T, Goldberg, Jeremy, Green, Jonathan, Guter, Stephen J, Hakonarson, Hakon, Heron, Elizabeth A, Hill, Matthew, Holt, Richard, Howe, Jennifer L, Hughes, Gillian, Hus, Vanessa, Igliozzi, Roberta, Kim, Cecilia, Klauck, Sabine M, Kolevzon, Alexander, Korvatska, Olena, Kustanovich, Vlad, Lajonchere, Clara M, Lamb, Janine A, Laskawiec, Magdalena, Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett L, Lionel, Anath C, Liu, Xiao-Qing, Lord, Catherine, Lotspeich, Linda, Lund, Sabata C, Maestrini, Elena, Mahoney, William, Mantoulan, Carine, Marshall, Christian R, McConachie, Helen, McDougle, Christopher J, McGrath, Jane, McMahon, William M, Melhem, Nadine M, Merikangas, Alison, Migita, Ohsuke, Minshew, Nancy J, Mirza, Ghazala K, Munson, Jeff, Nelson, Stanley F, Noakes, Carolyn, Noor, Abdul, Nygren, Gudrun, Oliveira, Guiomar, Papanikolaou, Katerina, Parr, Jeremy R, Parrini, Barbara, Paton, Tara, Pickles, Andrew, Piven, Joseph, Posey, David J, Poustka, Annemarie, and Poustka, Fritz
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Clinical Research ,Human Genome ,Mental Health ,Genetics ,Brain Disorders ,Pediatric ,Biotechnology ,Intellectual and Developmental Disabilities (IDD) ,Autism ,Prevention ,Aetiology ,2.1 Biological and endogenous factors ,Alleles ,Autistic Disorder ,DNA Copy Number Variations ,Databases ,Genetic ,Genetic Predisposition to Disease ,Genetic Variation ,Genome ,Human ,Genome-Wide Association Study ,Genotype ,Humans ,Polymorphism ,Single Nucleotide ,Risk Factors ,White People ,Biological Sciences ,Medical and Health Sciences ,Genetics & Heredity - 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.
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- 2010
7. Avoidant/restrictive food intake disorder, other eating difficulties and compromised growth in 72 children: background and associated factors
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Johansson, Maria, primary, Hermansson, Jonas, additional, Linnsand, Petra, additional, Gillberg, Christopher, additional, and Nygren, Gudrun, additional
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- 2023
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8. The SNABB ADHD treatment scale—An easy-to-use scale on treatment monitoring in childhood ADHD: A pilot study
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Nylander, Elin, primary, Hermansson, Jonas, additional, and Nygren, Gudrun, additional
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- 2023
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9. A feasibility study of a new instrument for detection of autism signs in preschool settings. Psychometric properties of the joint attention observation schedule preschool (JA-OBS preschool)
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Linnsand, Petra, primary, Hermansson, Jonas, additional, Gillberg, Christopher, additional, and Nygren, Gudrun, additional
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- 2023
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10. The Prevalence of Autism Spectrum Disorders in Toddlers: A Population Study of 2-Year-Old Swedish Children
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Nygren, Gudrun, Cederlund, Mats, Sandberg, Eva, Gillstedt, Fredrik, Arvidsson, Thomas, Gillberg, I. Carina, Andersson, Gunilla Westman, and Gillberg, Christopher
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Autism Spectrum Disorder (ASD) is more common than previously believed. ASD is increasingly diagnosed at very young ages. We report estimated ASD prevalence rates from a population study of 2-year-old children conducted in 2010 in Gothenburg, Sweden. Screening for ASD had been introduced at all child health centers at child age 21/2 years. All children with suspected ASD were referred for evaluation to one center, serving the whole city of Gothenburg. The prevalence for all 2-year-olds referred in 2010 and diagnosed with ASD was 0.80%. Corresponding rates for 2-year-olds referred to the center in 2000 and 2005 (when no population screening occurred) were 0.18 and 0.04%. Results suggest that early screening contributes to a large increase in diagnosed ASD cases.
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- 2012
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11. A New Screening Programme for Autism in a General Population of Swedish Toddlers
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Nygren, Gudrun, Sandberg, Eva, Gillstedt, Fredrik, Ekeroth, Gunnar, Arvidsson, Thomas, and Gillberg, Christopher
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The evidence from early intervention studies of autism has emphasised the need for early diagnosis. Insight into the early presentation of autism is crucial for early recognition, and routine screening can optimise the possibility for early diagnosis. General population screening was conducted for 2.5-year-old children at child health centres in Gothenburg, Sweden, and the efficacy of the screening instruments in predicting a clinical diagnosis of autism was studied. The tools used for autism screening comprised the Modified Checklist for Autism in Children (M-CHAT) and an observation made by trained nurses of the child's joint attention abilities (JA-OBS). From the new screening procedure a "definitive" suspicion of autism spectrum disorder (ASD) was raised in 64 individuals in the study population of 3999 young children. Fifty-four of these were clinically assessed in detail. Forty-eight children had a confirmed diagnosis of ASD, three had severe language disorder, and three (6%) were classified as having typical development. The "Positive predictive Value" ("PPV") for the combination of M-CHAT and the JA-OBS was 90%. The combination of instruments used showed promise for early detection of autism as a routine in the developmental programme at child health centres. Trained medical staff is a basic requirement and enables earlier detection and the use of screening tools beyond routine population screening regardless of the age at which a suspicion of autism is raised. (Contains 5 figures and 2 tables.)
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- 2012
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12. The Swedish Version of the Diagnostic Interview for Social and Communication Disorders (DISCO-10). Psychometric Properties
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Nygren, Gudrun, Hagberg, Bibbi, Billstedt, Eva, Skoglund, Asa, Gillberg, Christopher, and Johansson, Maria
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Psychometric properties of the Diagnostic Interview for Social and Communication Disorders schedule (DISCO) have only been studied in the UK. The authorised Swedish translation of the tenth version of the DISCO (DISCO-10) was used in interviews with close relatives of 91 Swedish patients referred for neuropsychiatrical assessment. Validity analysis compared DISCO-10-algorithm diagnoses with clinical diagnoses and with Autism Diagnostic Interview Revised (ADI-R) algorithm diagnoses in 57 cases. Good-excellent inter-rater reliability was demonstrated in 40 cases of children and adults. The criterion validity was excellent when compared with clinical diagnoses and an investigator-based diagnostic interview. The DISCO-10 has good psychometric properties. Advantages over the ADI-R include valuable information of the broader autism phenotype and co-existing problems for clinical practice and research.
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- 2009
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13. A new screening programme for autism in a general population of Swedish toddlers
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Nygren, Gudrun, Sandberg, Eva, Gillstedt, Fredrik, Ekeroth, Gunnar, Arvidsson, Thomas, and Gillberg, Christopher
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- 2012
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14. Experiences Of Immigrant Parents In Sweden Participating In A Community Assessment And Intervention Program For Preschool Children With Autism
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Nilses, Åsa, Jingrot, Marianne, Linnsand, Petra, Gillberg, Christopher, and Nygren, Gudrun
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early intervention ,parental experience ,Neuropsychiatric Disease and Treatment ,migrate ,qualitative ,autism spectrum disorder ,ASD ,Original Research - Abstract
Åsa Nilses,1 Marianne Jingrot,2 Petra Linnsand,3,4 Christopher Gillberg,3 Gudrun Nygren3,4 1Center for Progress in Children’s Mental Health, Region Vastra Gotaland, Gothenburg, Sweden; 2Research and Development Primary Health Care, Region Vastra Gotaland, Gothenburg, Sweden; 3Gillberg Neuropsychiatry Centre, Institute of Neuroscience and Physiology, Sahlgrenska Academy, Gothenburg University, Gothenburg, Sweden; 4Child and Adolescent Specialist Centre, Angered Hospital, Region Vastra Gotaland, Angered, SwedenCorrespondence: Åsa NilsesCenter for Progress in Children’s Mental Health, Kungsgatan 12, Gothenburg 411 19, SwedenTel +46 722 245311Email asa.nilses@vgregion.seBackground: Barriers inherent in service systems for autism can hinder parents from getting help for their children, and this is probably especially true for immigrant parents. In order to provide accessible assessment and interventions for preschool children with autism, a multidisciplinary team was established in one district of a Swedish city, with a majority population of immigrants.Aim: The aim of the present study was to gain knowledge of the parents’ experiences of participating in the community assessment and intervention program.Methods and procedures: A qualitative study with semi-structured interviews was conducted with parents of 11 children aged 3–5, who had been diagnosed with autism and participated in the community intervention program for at least 1 year. The interviews were recorded and transcribed verbatim, and data were analyzed following a phenomenological hermeneutical method.Results: The overall meaning of the parents’ narratives was interpreted as “A new way of understanding my child made life more hopeful and more challenging than before”. Their experience was interpreted as a process, captured in the three main themes: ”An overwhelming diagnosis”, “Cooperating with the team”, and “Growing as a parent”.Conclusion: As lacking knowledge of available resources and support seems to be an important barrier to access services, the results underscore the importance of providing individually tailored services including comprehensive societal support to immigrant families with young children suffering from autism. The study also highlights the importance of addressing the parents’ previous awareness and knowledge of autism early in the assessment process, as well as continually involving parents in the intervention program, and this may enhance parental growth.Keywords: ASD, autism spectrum disorder, early intervention, migrate, parental experience, qualitative  
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- 2019
15. Feeding Problems Including Avoidant Restrictive Food Intake Disorder in Young Children With Autism Spectrum Disorder in a Multiethnic Population
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Nygren, Gudrun, primary, Linnsand, Petra, additional, Hermansson, Jonas, additional, Dinkler, Lisa, additional, Johansson, Maria, additional, and Gillberg, Christopher, additional
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- 2021
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16. Possible association between the androgen receptor gene and autism spectrum disorder
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Henningsson, Susanne, Jonsson, Lina, Ljunggren, Elin, Westberg, Lars, Gillberg, Carina, Råstam, Maria, Anckarsäter, Henrik, Nygren, Gudrun, Landén, Mikael, Thuresson, Kent, Betancur, Catalina, Leboyer, Marion, Gillberg, Christopher, Eriksson, Elias, and Melke, Jonas
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- 2009
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17. The Prevalence of Autism Spectrum Disorders in Toddlers: A Population Study of 2-Year-Old Swedish Children
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Nygren, Gudrun, Cederlund, Mats, Sandberg, Eva, Gillstedt, Fredrik, Arvidsson, Thomas, Carina Gillberg, I., Westman Andersson, Gunilla, and Gillberg, Christopher
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- 2012
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18. The Swedish Version of the Diagnostic Interview for Social and Communication Disorders (DISCO-10). Psychometric Properties
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Nygren, Gudrun, Hagberg, Bibbi, Billstedt, Eva, Skoglund, Åsa, Gillberg, Christopher, and Johansson, Maria
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- 2009
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19. Abnormal EEG lateralization in boys with autism
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Stroganova, Tatiana A., Nygren, Gudrun, Tsetlin, Marina M., Posikera, Irina N., Gillberg, Christopher, Elam, Mikael, and Orekhova, Elena V.
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- 2007
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20. Genetic variations of the melatonin pathway in patients with attention-deficit and hyperactivity disorders
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Chaste, Pauline, Clement, Nathalie, Botros, Hany Goubran, Guillaume, Jean-Luc, Konyukh, Marina, Pagan, Cécile, Scheid, Isabelle, Nygren, Gudrun, Anckarsäter, Henrik, Rastam, Maria, Ståhlberg, Ola, Gillberg, Carina I., Melke, Jonas, Delorme, Richard, Leblond, Claire, Toro, Roberto, Huguet, Guillaume, Fauchereau, Fabien, Durand, Christelle, Boudarene, Lydia, Serrano, Emilie, Lemière, Nathalie, Launay, Jean Marie, Leboyer, Marion, Jockers, Ralf, Gillberg, Christopher, and Bourgeron, Thomas
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- 2011
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21. A High Prevalence of Autism Spectrum Disorder in Preschool Children in an Immigrant, Multiethnic Population in Sweden: Challenges for Health Care
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Linnsand, Petra, primary, Gillberg, Christopher, additional, Nilses, Åsa, additional, Hagberg, Bibbi, additional, and Nygren, Gudrun, additional
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- 2020
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22. Functional impact of global rare copy number variation in autism spectrum disorders
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Pinto, Dalila, Pagnamenta, Alistair T., Klei, Lambertus, Anney, Richard, Merico, Daniele, Regan, Regina, Conroy, Judith, Magalhaes, Tiago R., Correia, Catarina, Abrahams, Brett S., Almeida, Joana, Bacchelli, Elena, Bader, Gary D., Bailey, Anthony J., Baird, Gillian, Battaglia, Agatino, Berney, Tom, Bolshakova, Nadia, Bölte, Sven, Bolton, Patrick F., Bourgeron, Thomas, Brennan, Sean, Brian, Jessica, Bryson, Susan E., Carson, Andrew R., Casallo, Guillermo, Casey, Jillian, Chung, Brian H.Y., Cochrane, Lynne, Corsello, Christina, Crawford, Emily L., Crossett, Andrew, Cytrynbaum, Cheryl, Dawson, Geraldine, de Jonge, Maretha, Delorme, Richard, Drmic, Irene, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A., Folstein, Susan E., Fombonne, Eric, Freitag, Christine M., Gilbert, John, Gillberg, Christopher, Glessner, Joseph T., Goldberg, Jeremy, Green, Andrew, Green, Jonathan, Guter, Stephen J., Hakonarson, Hakon, Heron, Elizabeth A., Hill, Matthew, Holt, Richard, Howe, Jennifer L., Hughes, Gillian, Hus, Vanessa, Igliozzi, Roberta, Kim, Cecilia, Klauck, Sabine M., Kolevzon, Alexander, Korvatska, Olena, Kustanovich, Vlad, Lajonchere, Clara M., Lamb, Janine A., Laskawiec, Magdalena, Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett L., Lionel, Anath C., Liu, Xiao-Qing, Lord, Catherine, Lotspeich, Linda, Lund, Sabata C., Maestrini, Elena, Mahoney, William, Mantoulan, Carine, Marshall, Christian R., McConachie, Helen, McDougle, Christopher J., McGrath, Jane, McMahon, William M., Merikangas, Alison, Migita, Ohsuke, Minshew, Nancy J., Mirza, Ghazala K., Munson, Jeff, Nelson, Stanley F., Noakes, Carolyn, Noor, Abdul, Nygren, Gudrun, Oliveira, Guiomar, Papanikolaou, Katerina, Parr, Jeremy R., Parrini, Barbara, Paton, Tara, Pickles, Andrew, Pilorge, Marion, Piven, Joseph, Ponting, Chris P., Posey, David J., Poustka, Annemarie, Poustka, Fritz, Prasad, Aparna, Ragoussis, Jiannis, Renshaw, Katy, Rickaby, Jessica, Roberts, Wendy, Roeder, Kathryn, Roge, Bernadette, Rutter, Michael L., Bierut, Laura J., Rice, John P., Salt, Jeff, Sansom, Katherine, Sato, Daisuke, Segurado, Ricardo, Sequeira, Ana F., Senman, Lili, Shah, Naisha, Sheffield, Val C., Soorya, Latha, Sousa, Inês, Stein, Olaf, Sykes, Nuala, Stoppioni, Vera, Strawbridge, Christina, Tancredi, Raffaella, Tansey, Katherine, Thiruvahindrapduram, Bhooma, Thompson, Ann P., Thomson, Susanne, Tryfon, Ana, Tsiantis, John, Van Engeland, Herman, Vincent, John B., Volkmar, Fred, Wallace, Simon, Wang, Kai, Wang, Zhouzhi, Wassink, Thomas H., Webber, Caleb, Weksberg, Rosanna, Wing, Kirsty, Wittemeyer, Kerstin, Wood, Shawn, Wu, Jing, Yaspan, Brian L., Zurawiecki, Danielle, Zwaigenbaum, Lonnie, Buxbaum, Joseph D., Cantor, Rita M., Cook, Edwin H., Coon, Hilary, Cuccaro, Michael L., Devlin, Bernie, Ennis, Sean, Gallagher, Louise, Geschwind, Daniel H., Gill, Michael, Haines, Jonathan L., Hallmayer, Joachim, Miller, Judith, Monaco, Anthony P., Nurnberger, John I., Jr, Paterson, Andrew D., Pericak-Vance, Margaret A., Schellenberg, Gerard D., Szatmari, Peter, Vicente, Astrid M., Vieland, Veronica J., Wijsman, Ellen M., Scherer, Stephen W., Sutcliffe, James S., and Betancur, Catalina
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- 2010
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23. Analysis of X chromosome inactivation in autism spectrum disorders
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Gong, Xiaohong, Bacchelli, Elena, Blasi, Francesca, Toma, Claudio, Betancur, Catalina, Chaste, Pauline, Delorme, Richard, Durand, Christelle M., Fauchereau, Fabien, Botros, Hany Goubran, Leboyer, Marion, Mouren-Simeoni, Marie-Christine, Nygren, Gudrun, Anckarsäter, Henrik, Rastam, Maria, Gillberg, Carina I., Gillberg, Christopher, Moreno-De-Luca, Daniel, Carone, Simona, Nummela, Ilona, Rossi, Mari, Battaglia, Agatino, Jarvela, Irma, Maestrini, Elena, and Bourgeron, Thomas
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- 2008
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24. Genetic and Functional ascertainment of the Melatonin Pathway in Patients with Attention Deficit and Hyperactivity Disorders
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Chaste, Pauline, Clement, Nathalie, Botros, Hany, Guillaume, Jean-Luc, Konyukh, Marina, Pagan, Cécile, Scheid, Isabelle, Nygren, Gudrun, Anckarsäter, Henrik, Råstam, Maria, Ståhlberg, Ola, Gillberg, I. Carina, Melke, Jonas, Delorme, Richard, Leblond, Claire, Toro, Roberto, Huguet, Guillaume, Fauchereau, Fabien, Durand, Christelle, Boudarene, Lydia, Serrano, Emilie, Lemière, Nathalie, Launay, Jean Marie, Leboyer, Marion, Jockers, Ralf, Gillberg, Christopher, Bourgeron, Thomas, Génétique Humaine et Fonctions Cognitives, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Institut Cochin (UMR_S567 / UMR 8104), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Göteborgs Universitet (GU), Lund University [Lund], AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut fédératif de Recherche Lariboisière (IFR_139), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Fondation FondaMental [Créteil], This work was supported by the Institut Pasteur, Université Paris Diderot, INSERM, CNRS, FP6 ENI‐NET, Fondation FondaMental and Fondation pour la Recherche Médicale (‘Equipe FRM’, RJ)., Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5), and Toro, Roberto
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[SDV] Life Sciences [q-bio] ,ASMT ,[SDV]Life Sciences [q-bio] ,AA-NAT ,ADHD ,receptors ,melatonin ,[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC] ,[SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC] ,genes - Abstract
Sleep wake cycles are frequently disturbed in patients with Attention Deficit and Hyperactivity Disorders. We hypothesized that the origin of the sleep problems may be the consequence of an abnormal circadian clock setting regulated by the melatonin pathway. Here, we sequenced all the genes of the melatonin pathway AA-NAT, ASMT, MTNR1A, MTNR1B and GPR50 in 328 individuals from Sweden including 108 patients with ADHD and 220 from the general population. Non-synonymous mutations were identified in all genes at a similar frequency in patients with ADHD and in controls. Among the functional variations, a splice site mutation (IVS5+2T>C) in ASMT and one stop mutation (Y170X) in MTNR1A were only detected in patients with ADHD. Biochemical analyses indicated that these mutations abolish the activity of ASMT and MTNR1A. We also identified clusters of SNPs within MTNR1B showing significant difference in the allelic frequency between ADHD patients and control (maximum signal at rs10830961 P=0.0002). Taken together, these genetic and functional results shed light on one new compelling candidate pathway for susceptibility to circadian rhythms alterations that could help clinicians for providing better treatments of patients with ADHD and sleep problems.
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- 2018
25. Mutation screening of NOS1AP gene in a large sample of psychiatric patients and controls
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Nygren Gudrun, Schuroff Franck, Jamain Stéphane, Chaste Pauline, Anckarsäter Henrik, Scheid Isabelle, Betancur Catalina, Delorme Richard, Herbrecht Evelyn, Dumaine Anne, Mouren Marie, Råstam Maria, Leboyer Marion, Gillberg Christopher, and Bourgeron Thomas
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Internal medicine ,RC31-1245 ,Genetics ,QH426-470 - Abstract
Abstract Background The gene encoding carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase (NOS1AP) is located on chromosome 1q23.3, a candidate region for schizophrenia, autism spectrum disorders (ASD) and obsessive-compulsive disorder (OCD). Previous genetic and functional studies explored the role of NOS1AP in these psychiatric conditions, but only a limited number explored the sequence variability of NOS1AP. Methods We analyzed the coding sequence of NOS1AP in a large population (n = 280), including patients with schizophrenia (n = 72), ASD (n = 81) or OCD (n = 34), and in healthy volunteers controlled for the absence of personal or familial history of psychiatric disorders (n = 93). Results Two non-synonymous variations, V37I and D423N were identified in two families, one with two siblings with OCD and the other with two brothers with ASD. These rare variations apparently segregate with the presence of psychiatric conditions. Conclusions Coding variations of NOS1AP are relatively rare in patients and controls. Nevertheless, we report the first non-synonymous variations within the human NOS1AP gene that warrant further genetic and functional investigations to ascertain their roles in the susceptibility to psychiatric disorders.
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- 2010
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26. An investigation of ribosomal protein L10 gene in autism spectrum disorders
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Rastam Maria, Anckarsäter Henrik, Nygren Gudrun, Goubran-Botros Hany, Betancur Catalina, Chaste Pauline, Durand Christelle M, Fauchereau Fabien, Delorme Richard, Gong Xiaohong, Gillberg I Carina, Kopp Svenny, Mouren-Simeoni Marie-Christine, Gillberg Christopher, Leboyer Marion, and Bourgeron Thomas
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Internal medicine ,RC31-1245 ,Genetics ,QH426-470 - Abstract
Abstract Background Autism spectrum disorders (ASD) are severe neurodevelopmental disorders with the male:female ratio of 4:1, implying the contribution of X chromosome genetic factors to the susceptibility of ASD. The ribosomal protein L10 (RPL10) gene, located on chromosome Xq28, codes for a key protein in assembling large ribosomal subunit and protein synthesis. Two non-synonymous mutations of RPL10, L206M and H213Q, were identified in four boys with ASD. Moreover, functional studies of mutant RPL10 in yeast exhibited aberrant ribosomal profiles. These results provided a novel aspect of disease mechanisms for autism – aberrant processes of ribosome biosynthesis and translation. To confirm these initial findings, we re-sequenced RPL10 exons and quantified mRNA transcript level of RPL10 in our samples. Methods 141 individuals with ASD were recruited in this study. All RPL10 exons and flanking junctions were sequenced. Furthermore, mRNA transcript level of RPL10 was quantified in B lymphoblastoid cell lines (BLCL) of 48 patients and 27 controls using the method of SYBR Green quantitative PCR. Two sets of primer pairs were used to quantify the mRNA expression level of RPL10: RPL10-A and RPL10-B. Results No non-synonymous mutations were detected in our cohort. Male controls showed similar transcript level of RPL10 compared with female controls (RPL10-A, U = 81, P = 0.7; RPL10-B, U = 61.5, P = 0.2). We did not observe any significant difference in RPL10 transcript levels between cases and controls (RPL10-A, U = 531, P = 0.2; RPL10-B, U = 607.5, P = 0.7). Conclusion Our results suggest that RPL10 has no major effect on the susceptibility to ASD.
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- 2009
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27. Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly
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Delorme Richard, Chaste Pauline, Nygren Gudrun, Cai Guiqing, Buxbaum Joseph D, Goldsmith Juliet, Råstam Maria, Silverman Jeremy M, Hollander Eric, Gillberg Christopher, Leboyer Marion, and Betancur Catalina
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Internal medicine ,RC31-1245 ,Genetics ,QH426-470 - Abstract
Abstract Background Sotos syndrome is an overgrowth syndrome characterized by macrocephaly, advanced bone age, characteristic facial features, and learning disabilities, caused by mutations or deletions of the NSD1 gene, located at 5q35. Sotos syndrome has been described in a number of patients with autism spectrum disorders, suggesting that NSD1 could be involved in other cases of autism and macrocephaly. Methods We screened the NSD1 gene for mutations and deletions in 88 patients with autism spectrum disorders and macrocephaly (head circumference 2 standard deviations or more above the mean). Mutation analysis was performed by direct sequencing of all exons and flanking regions. Dosage analysis of NSD1 was carried out using multiplex ligation-dependent probe amplification. Results We identified three missense variants (R604L, S822C and E1499G) in one patient each, but none is within a functional domain. In addition, segregation analysis showed that all variants were inherited from healthy parents and in two cases were also present in unaffected siblings, indicating that they are probably nonpathogenic. No partial or whole gene deletions/duplications were observed. Conclusion Our findings suggest that Sotos syndrome is a rare cause of autism spectrum disorders and that screening for NSD1 mutations and deletions in patients with autism and macrocephaly is not warranted in the absence of other features of Sotos syndrome.
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- 2007
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28. Erratum to: The Prevalence of Autism Spectrum Disorders in Toddlers: A Population Study of 2-Year-Old Swedish Children
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Nygren, Gudrun, Cederlund, Mats, Sandberg, Eva, Gillstedt, Fredrik, Arvidsson, Thomas, Carina Gillberg, I., Westman Andersson, Gunilla, and Gillberg, Christopher
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- 2012
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29. Individual common variants exert weak effects on the risk for autism spectrum disorderspi
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Anney, Richard Klei, Lambertus Pinto, Dalila Almeida, Joana and Bacchelli, Elena Baird, Gillian Bolshakova, Nadia and Boelte, Sven Bolton, Patrick F. Bourgeron, Thomas Brennan, Sean Brian, Jessica Casey, Jillian Conroy, Judith and Correia, Catarina Corsello, Christina Crawford, Emily L. de Jonge, Maretha Delorme, Richard Duketis, Eftichia Duque, Frederico Estes, Annette Farrar, Penny Fernandez, Bridget A. and Folstein, Susan E. Fombonne, Eric Gilbert, John and Gillberg, Christopher Glessner, Joseph T. Green, Andrew and Green, Jonathan Guter, Stephen J. Heron, Elizabeth A. Holt, Richard Howe, Jennifer L. Hughes, Gillian Hus, Vanessa and Igliozzi, Roberta Jacob, Suma Kenny, Graham P. Kim, Cecilia and Kolevzon, Alexander Kustanovich, Vlad Lajonchere, Clara M. and Lamb, Janine A. Law-Smith, Miriam Leboyer, Marion Le Couteur, Ann Leventhal, Bennett L. Liu, Xiao-Qing Lombard, Frances Lord, Catherine Lotspeich, Linda Lund, Sabata C. and Magalhaes, Tiago R. Mantoulan, Carine McDougle, Christopher J. and Melhem, Nadine M. Merikangas, Alison Minshew, Nancy J. and Mirza, Ghazala K. Munson, Jeff Noakes, Carolyn Nygren, Gudrun Papanikolaou, Katerina Pagnamenta, Alistair T. and Parrini, Barbara Paton, Tara Pickles, Andrew Posey, David J. and Poustka, Fritz Ragoussis, Jiannis Regan, Regina Roberts, Wendy Roeder, Kathryn Roge, Bernadette Rutter, Michael L. and Schlitt, Sabine Shah, Naisha Sheffield, Val C. Soorya, Latha Sousa, Ines Stoppioni, Vera Sykes, Nuala Tancredi, Raffaella Thompson, Ann P. Thomson, Susanne Tryfon, Ana and Tsiantis, John Van Engeland, Herman Vincent, John B. and Volkmar, Fred Vorstman, J. A. S. Wallace, Simon Wing, Kirsty and Wittemeyer, Kerstin Wood, Shawn Zurawiecki, Danielle and Zwaigenbaum, Lonnie Bailey, Anthony J. Battaglia, Agatino and Cantor, Rita M. Coon, Hilary Cuccaro, Michael L. Dawson, Geraldine Ennis, Sean Freitag, Christine M. Geschwind, Daniel H. Haines, Jonathan L. Klauck, Sabine M. McMahon, William M. Maestrini, Elena Miller, Judith Monaco, Anthony P. Nelson, Stanley F. Nurnberger, Jr., John I. Oliveira, Guiomar Parr, Jeremy R. Pericak-Vance, Margaret A. Piven, Joseph Schellenberg, Gerard D. Scherer, StephenW. Vicente, Astrid M. Wassink, Thomas H. Wijsman, Ellen M. Betancur, Catalina Buxbaum, Joseph D. Cook, Edwin H. Gallagher, Louise and Gill, Michael Hallmayer, Joachim Paterson, Andrew D. and Sutcliffe, James S. Szatmari, Peter Vieland, Veronica J. and Hakonarson, Hakon Devlin, Bernie
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mental disorders - Abstract
While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASD 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 the association of individual single nucleotide polymorphisms (SNPs), we also sought evidence that common variants, en masse, might affect the 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. In 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 the risk for ASD but their individual effects are modest.
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- 2012
30. Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder
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Tabet, Anne-Claude, primary, Verloes, Alain, additional, Pilorge, Marion, additional, Delaby, Elsa, additional, Delorme, Richard, additional, Nygren, Gudrun, additional, Devillard, Françoise, additional, Gérard, Marion, additional, Passemard, Sandrine, additional, Héron, Delphine, additional, Siffroi, Jean-Pierre, additional, Jacquette, Aurelia, additional, Delahaye, Andrée, additional, Perrin, Laurence, additional, Dupont, Céline, additional, Aboura, Azzedine, additional, Bitoun, Pierre, additional, Coleman, Mary, additional, Leboyer, Marion, additional, Gillberg, Christopher, additional, Benzacken, Brigitte, additional, and Betancur, Catalina, additional
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- 2015
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31. Heterozygous FA2H mutations in autism spectrum disorders
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Scheid, Isabelle, primary, Maruani, Anna, additional, Huguet, Guillaume, additional, Leblond, Claire S, additional, Nygren, Gudrun, additional, Anckarsäter, Henrik, additional, Beggiato, Anita, additional, Rastam, Maria, additional, Amsellem, Fréderique, additional, Gillberg, I Carina, additional, Elmaleh, Monique, additional, Leboyer, Marion, additional, Gillberg, Christopher, additional, Betancur, Catalina, additional, Coleman, Mary, additional, Hama, Hiroko, additional, Cook, Edwin H, additional, Bourgeron, Thomas, additional, and Delorme, Richard, additional
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- 2013
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32. Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders
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Leblond, Claire S., primary, Heinrich, Jutta, additional, Delorme, Richard, additional, Proepper, Christian, additional, Betancur, Catalina, additional, Huguet, Guillaume, additional, Konyukh, Marina, additional, Chaste, Pauline, additional, Ey, Elodie, additional, Rastam, Maria, additional, Anckarsäter, Henrik, additional, Nygren, Gudrun, additional, Gillberg, I. Carina, additional, Melke, Jonas, additional, Toro, Roberto, additional, Regnault, Beatrice, additional, Fauchereau, Fabien, additional, Mercati, Oriane, additional, Lemière, Nathalie, additional, Skuse, David, additional, Poot, Martin, additional, Holt, Richard, additional, Monaco, Anthony P., additional, Järvelä, Irma, additional, Kantojärvi, Katri, additional, Vanhala, Raija, additional, Curran, Sarah, additional, Collier, David A., additional, Bolton, Patrick, additional, Chiocchetti, Andreas, additional, Klauck, Sabine M., additional, Poustka, Fritz, additional, Freitag, Christine M., additional, Waltes, Regina, additional, Kopp, Marnie, additional, Duketis, Eftichia, additional, Bacchelli, Elena, additional, Minopoli, Fiorella, additional, Ruta, Liliana, additional, Battaglia, Agatino, additional, Mazzone, Luigi, additional, Maestrini, Elena, additional, Sequeira, Ana F., additional, Oliveira, Barbara, additional, Vicente, Astrid, additional, Oliveira, Guiomar, additional, Pinto, Dalila, additional, Scherer, Stephen W., additional, Zelenika, Diana, additional, Delepine, Marc, additional, Lathrop, Mark, additional, Bonneau, Dominique, additional, Guinchat, Vincent, additional, Devillard, Françoise, additional, Assouline, Brigitte, additional, Mouren, Marie-Christine, additional, Leboyer, Marion, additional, Gillberg, Christopher, additional, Boeckers, Tobias M., additional, and Bourgeron, Thomas, additional
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- 2012
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33. The Prevalence of Autism Spectrum Disorders in Toddlers: A Population Study of 2-Year-Old Swedish Children
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Nygren, Gudrun, primary, Cederlund, Mats, additional, Sandberg, Eva, additional, Gillstedt, Fredrik, additional, Arvidsson, Thomas, additional, Carina Gillberg, I., additional, Westman Andersson, Gunilla, additional, and Gillberg, Christopher, additional
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- 2011
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34. A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder
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Casey, Jillian P., primary, Magalhaes, Tiago, additional, Conroy, Judith M., additional, Regan, Regina, additional, Shah, Naisha, additional, Anney, Richard, additional, Shields, Denis C., additional, Abrahams, Brett S., additional, Almeida, Joana, additional, Bacchelli, Elena, additional, Bailey, Anthony J., additional, Baird, Gillian, additional, Battaglia, Agatino, additional, Berney, Tom, additional, Bolshakova, Nadia, additional, Bolton, Patrick F., additional, Bourgeron, Thomas, additional, Brennan, Sean, additional, Cali, Phil, additional, Correia, Catarina, additional, Corsello, Christina, additional, Coutanche, Marc, additional, Dawson, Geraldine, additional, de Jonge, Maretha, additional, Delorme, Richard, additional, Duketis, Eftichia, additional, Duque, Frederico, additional, Estes, Annette, additional, Farrar, Penny, additional, Fernandez, Bridget A., additional, Folstein, Susan E., additional, Foley, Suzanne, additional, Fombonne, Eric, additional, Freitag, Christine M., additional, Gilbert, John, additional, Gillberg, Christopher, additional, Glessner, Joseph T., additional, Green, Jonathan, additional, Guter, Stephen J., additional, Hakonarson, Hakon, additional, Holt, Richard, additional, Hughes, Gillian, additional, Hus, Vanessa, additional, Igliozzi, Roberta, additional, Kim, Cecilia, additional, Klauck, Sabine M., additional, Kolevzon, Alexander, additional, Lamb, Janine A., additional, Leboyer, Marion, additional, Le Couteur, Ann, additional, Leventhal, Bennett L., additional, Lord, Catherine, additional, Lund, Sabata C., additional, Maestrini, Elena, additional, Mantoulan, Carine, additional, Marshall, Christian R., additional, McConachie, Helen, additional, McDougle, Christopher J., additional, McGrath, Jane, additional, McMahon, William M., additional, Merikangas, Alison, additional, Miller, Judith, additional, Minopoli, Fiorella, additional, Mirza, Ghazala K., additional, Munson, Jeff, additional, Nelson, Stanley F., additional, Nygren, Gudrun, additional, Oliveira, Guiomar, additional, Pagnamenta, Alistair T., additional, Papanikolaou, Katerina, additional, Parr, Jeremy R., additional, Parrini, Barbara, additional, Pickles, Andrew, additional, Pinto, Dalila, additional, Piven, Joseph, additional, Posey, David J., additional, Poustka, Annemarie, additional, Poustka, Fritz, additional, Ragoussis, Jiannis, additional, Roge, Bernadette, additional, Rutter, Michael L., additional, Sequeira, Ana F., additional, Soorya, Latha, additional, Sousa, Inês, additional, Sykes, Nuala, additional, Stoppioni, Vera, additional, Tancredi, Raffaella, additional, Tauber, Maïté, additional, Thompson, Ann P., additional, Thomson, Susanne, additional, Tsiantis, John, additional, Van Engeland, Herman, additional, Vincent, John B., additional, Volkmar, Fred, additional, Vorstman, Jacob A. S., additional, Wallace, Simon, additional, Wang, Kai, additional, Wassink, Thomas H., additional, White, Kathy, additional, Wing, Kirsty, additional, Wittemeyer, Kerstin, additional, Yaspan, Brian L., additional, Zwaigenbaum, Lonnie, additional, Betancur, Catalina, additional, Buxbaum, Joseph D., additional, Cantor, Rita M., additional, Cook, Edwin H., additional, Coon, Hilary, additional, Cuccaro, Michael L., additional, Geschwind, Daniel H., additional, Haines, Jonathan L., additional, Hallmayer, Joachim, additional, Monaco, Anthony P., additional, Nurnberger, John I., additional, Pericak-Vance, Margaret A., additional, Schellenberg, Gerard D., additional, Scherer, Stephen W., additional, Sutcliffe, James S., additional, Szatmari, Peter, additional, Vieland, Veronica J., additional, Wijsman, Ellen M., additional, Green, Andrew, additional, Gill, Michael, additional, Gallagher, Louise, additional, Vicente, Astrid, additional, and Ennis, Sean, additional
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- 2011
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35. Variations of the Candidate SEZ6L2 Gene on Chromosome 16p11.2 in Patients with Autism Spectrum Disorders and in Human Populations
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Konyukh, Marina, primary, Delorme, Richard, additional, Chaste, Pauline, additional, Leblond, Claire, additional, Lemière, Nathalie, additional, Nygren, Gudrun, additional, Anckarsäter, Henrik, additional, Rastam, Maria, additional, Ståhlberg, Ola, additional, Amsellem, Frederique, additional, Gillberg, I. Carina, additional, Mouren-Simeoni, Marie Christine, additional, Herbrecht, Evelyn, additional, Fauchereau, Fabien, additional, Toro, Roberto, additional, Gillberg, Christopher, additional, Leboyer, Marion, additional, and Bourgeron, Thomas, additional
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- 2011
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36. Identification of Pathway-Biased and Deleterious Melatonin Receptor Mutants in Autism Spectrum Disorders and in the General Population
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Chaste, Pauline, primary, Clement, Nathalie, additional, Mercati, Oriane, additional, Guillaume, Jean-Luc, additional, Delorme, Richard, additional, Botros, Hany Goubran, additional, Pagan, Cécile, additional, Périvier, Samuel, additional, Scheid, Isabelle, additional, Nygren, Gudrun, additional, Anckarsäter, Henrik, additional, Rastam, Maria, additional, Ståhlberg, Ola, additional, Gillberg, Carina, additional, Serrano, Emilie, additional, Lemière, Nathalie, additional, Launay, Jean Marie, additional, Mouren-Simeoni, Marie Christine, additional, Leboyer, Marion, additional, Gillberg, Christopher, additional, Jockers, Ralf, additional, and Bourgeron, Thomas, additional
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- 2010
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37. Mutation screening of NOS1AP gene in a large sample of psychiatric patients and controls
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Delorme, Richard, primary, Betancur, Catalina, additional, Scheid, Isabelle, additional, Anckarsäter, Henrik, additional, Chaste, Pauline, additional, Jamain, Stéphane, additional, Schuroff, Franck, additional, Nygren, Gudrun, additional, Herbrecht, Evelyn, additional, Dumaine, Anne, additional, Mouren, Marie Christine, additional, Råstam, Maria, additional, Leboyer, Marion, additional, Gillberg, Christopher, additional, and Bourgeron, Thomas, additional
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- 2010
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38. Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders
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Depienne, Christel, primary, Moreno-De-Luca, Daniel, additional, Heron, Delphine, additional, Bouteiller, Delphine, additional, Gennetier, Aurélie, additional, Delorme, Richard, additional, Chaste, Pauline, additional, Siffroi, Jean-Pierre, additional, Chantot-Bastaraud, Sandra, additional, Benyahia, Baya, additional, Trouillard, Oriane, additional, Nygren, Gudrun, additional, Kopp, Svenny, additional, Johansson, Maria, additional, Rastam, Maria, additional, Burglen, Lydie, additional, Leguern, Eric, additional, Verloes, Alain, additional, Leboyer, Marion, additional, Brice, Alexis, additional, Gillberg, Christopher, additional, and Betancur, Catalina, additional
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- 2009
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39. An investigation of ribosomal protein L10 gene in autism spectrum disorders
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Gong, Xiaohong, primary, Delorme, Richard, additional, Fauchereau, Fabien, additional, Durand, Christelle M, additional, Chaste, Pauline, additional, Betancur, Catalina, additional, Goubran-Botros, Hany, additional, Nygren, Gudrun, additional, Anckarsäter, Henrik, additional, Rastam, Maria, additional, Gillberg, I Carina, additional, Kopp, Svenny, additional, Mouren-Simeoni, Marie-Christine, additional, Gillberg, Christopher, additional, Leboyer, Marion, additional, and Bourgeron, Thomas, additional
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- 2009
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40. Sensory gating in young children with autism: Relation to age, IQ, and EEG gamma oscillations
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Orekhova, Elena V., primary, Stroganova, Tatiana A., additional, Prokofyev, Andrey O., additional, Nygren, Gudrun, additional, Gillberg, Cristopher, additional, and Elam, Mikael, additional
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- 2008
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41. Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly
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Buxbaum, Joseph D, primary, Cai, Guiqing, additional, Nygren, Gudrun, additional, Chaste, Pauline, additional, Delorme, Richard, additional, Goldsmith, Juliet, additional, Råstam, Maria, additional, Silverman, Jeremy M, additional, Hollander, Eric, additional, Gillberg, Christopher, additional, Leboyer, Marion, additional, and Betancur, Catalina, additional
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- 2007
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42. Excess of High Frequency Electroencephalogram Oscillations in Boys with Autism
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Orekhova, Elena V., primary, Stroganova, Tatiana A., additional, Nygren, Gudrun, additional, Tsetlin, Marina M., additional, Posikera, Irina N., additional, Gillberg, Christopher, additional, and Elam, Mikael, additional
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- 2007
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43. Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly
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Buxbaum, Joseph D., primary, Cai, Guiqing, additional, Chaste, Pauline, additional, Nygren, Gudrun, additional, Goldsmith, Juliet, additional, Reichert, Jennifer, additional, Anckarsäter, Henrik, additional, Rastam, Maria, additional, Smith, Christopher J., additional, Silverman, Jeremy M., additional, Hollander, Eric, additional, Leboyer, Marion, additional, Gillberg, Christopher, additional, Verloes, Alain, additional, and Betancur, Catalina, additional
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- 2007
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44. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
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Durand, Christelle M, primary, Betancur, Catalina, additional, Boeckers, Tobias M, additional, Bockmann, Juergen, additional, Chaste, Pauline, additional, Fauchereau, Fabien, additional, Nygren, Gudrun, additional, Rastam, Maria, additional, Gillberg, I Carina, additional, Anckarsäter, Henrik, additional, Sponheim, Eili, additional, Goubran-Botros, Hany, additional, Delorme, Richard, additional, Chabane, Nadia, additional, Mouren-Simeoni, Marie-Christine, additional, de Mas, Philippe, additional, Bieth, Eric, additional, Rogé, Bernadette, additional, Héron, Delphine, additional, Burglen, Lydie, additional, Gillberg, Christopher, additional, Leboyer, Marion, additional, and Bourgeron, Thomas, additional
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- 2006
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45. Mutation screening of the ARX gene in patients with autism
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Chaste, Pauline, primary, Nygren, Gudrun, additional, Anckarsäter, Henrik, additional, Råstam, Maria, additional, Coleman, Mary, additional, Leboyer, Marion, additional, Gillberg, Christopher, additional, and Betancur, Catalina, additional
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- 2006
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46. No Human Tryptophan Hydroxylase-2 Gene R441H Mutation in a Large Cohort of Psychiatric Patients and Control Subjects
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Delorme, Richard, primary, Durand, Christelle M., additional, Betancur, Catalina, additional, Wagner, Michael, additional, Ruhrmann, Stephan, additional, Grabe, Hans-Juergen, additional, Nygren, Gudrun, additional, Gillberg, Christopher, additional, Leboyer, Marion, additional, Bourgeron, Thomas, additional, Courtet, Philippe, additional, Jollant, Fabrice, additional, Buresi, Catherine, additional, Aubry, Jean-Michel, additional, Baud, Patrick, additional, Bondolfi, Guido, additional, Bertschy, Gilles, additional, Perroud, Nader, additional, and Malafosse, Alain, additional
- Published
- 2006
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47. Neuropsychiatric and neurodevelopmental outcome of children at age 6 and 7 years who screened positive for language problems at 30 months
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Miniscalco, Carmela, primary, Nygren, Gudrun, additional, Hagberg, Bibbi, additional, Kadesjö, Björn, additional, and Gillberg, Christopher, additional
- Published
- 2006
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48. Expression and genetic variability of PCDH11Y, a gene specific to Homo sapiens and candidate for susceptibility to psychiatric disorders
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Durand, Christelle M., primary, Kappeler, Caroline, additional, Betancur, Catalina, additional, Delorme, Richard, additional, Quach, Hélène, additional, Goubran‐Botros, Hany, additional, Melke, Jonas, additional, Nygren, Gudrun, additional, Chabane, Nadia, additional, Bellivier, Franck, additional, Szoke, Andrei, additional, Schurhoff, Franck, additional, Rastam, Maria, additional, Anckarsäter, Henrik, additional, Gillberg, Christopher, additional, Leboyer, Marion, additional, and Bourgeron, Thomas, additional
- Published
- 2005
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49. An investigation of ribosomal protein L10 gene in autism spectrum disorders.
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Xiaohong Gong, Delorme, Richard, Fauchereau, Fabien, Durand, Christelle M., Chaste, Pauline, Betancur, Catalina, Goubran-Botros, Hany, Nygren, Gudrun, Anckarsäter, Henrik, Rastam, Maria, Gillberg, I. Carina, Kopp, Svenny, Mouren-Simeoni, Marie-Christine, Gillberg, Christopher, Leboyer, Marion, and Bourgeron, Thomas
- Subjects
AUTISM ,DEVELOPMENTAL disabilities ,X chromosome ,RIBOSOMES ,CELL lines - 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. [ABSTRACT FROM AUTHOR]
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- 2009
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50. Mutation analysis of the NSD1 gene in patients with autismspectrum disorders and macrocephaly.
- Author
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Buxbaum, Joseph D., Cai, Guiqing, Nygren, Gudrun, Chaste, Pauline, Delorme, Richard, Goldsmith, Juliet, Råstam, Maria, Silverman, Jeremy M., Hollander, Eric, Gillberg, Christopher, Leboyer, Marion, and Betancur, Catalina
- Subjects
SYNDROMES ,LEARNING disabilities ,GENETIC mutation ,GENES ,EXONS (Genetics) ,AUTISM - Abstract
Background: Sotos syndrome is an overgrowth syndrome characterized by macrocephaly, advanced bone age, characteristic facial features, and learning disabilities, caused by mutations or deletions of the NSD1 gene, located at 5q35. Sotos syndrome has been described in a number of patients with autism spectrum disorders, suggesting that NSD1 could be involved in other cases of autism and macrocephaly. Methods: We screened the NSD1 gene for mutations and deletions in 88 patients with autism spectrum disorders and macrocephaly (head circumference 2 standard deviations or more above the mean). Mutation analysis was performed by direct sequencing of all exons and flanking regions. Dosage analysis of NSD1 was carried out using multiplex ligation-dependent probe amplification. Results: We identified three missense variants (R604L, S822C and E1499G) in one patient each, but none is within a functional domain. In addition, segregation analysis showed that all variants were inherited from healthy parents and in two cases were also present in unaffected siblings, indicating that they are probably nonpathogenic. No partial or whole gene deletions/duplications were observed. Conclusion: Our findings suggest that Sotos syndrome is a rare cause of autism spectrum disorders and that screening for NSD1 mutations and deletions in patients with autism and macrocephaly is not warranted in the absence of other features of Sotos syndrome. [ABSTRACT FROM AUTHOR]
- Published
- 2007
- Full Text
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