6 recherche sur le mot-clé 'Attention Deficit Disorder with'

Decreased interoceptive accuracy in children with autism spectrum disorder and with comorbid attention deficit/hyperactivity disorder / Han-Xue YANG in Autism Research, 15-4 (April 2022)  

Public ISBD [article]  inAutism Research > 15-4 (April 2022) . - p.729-739 Titre : Decreased interoceptive accuracy in children with autism spectrum disorder and with comorbid attention deficit/hyperactivity disorder Type de document : texte imprimé Auteurs : Han-Xue YANG, Auteur ; Han-Yu ZHOU, Auteur ; Ying LI, Auteur ; Yong-Hua CUI, Auteur ; Yang XIANG, Auteur ; Rong-Man YUAN, Auteur ; Simon S.Y. LUI, Auteur ; Raymond C.K. CHAN, Auteur Article en page(s) : p.729-739 Langues : Anglais (eng) Mots-clés : Adult  Attention Deficit Disorder with  Hyperactivity/complications/diagnosis/epidemiology  Autism Spectrum Disorder/complications/diagnosis/epidemiology  Autistic Disorder  Child  Comorbidity  Humans  Interoception  autism spectrum disorders  autistic traits  eye-tracking Index. décimale : PER Périodiques Résumé : Interoception refers to the awareness of internal physiological state. Several previous studies reported that people with autism spectrum disorders (ASD) and adults with attention-deficit/hyperactivity disorder (ADHD) have diverse patterns of interoception, but the extent of literature is limited and inconsistent. This study aimed to investigate the interoceptive accuracy (IA) in children with ASD, children with comorbid ASD and ADHD, and typically developing (TD) children with high and low levels of autistic traits. We administered the eye-tracking interoceptive accuracy task (EIAT) to 30 children with ASD, 20 children with comorbid ASD and ADHD, and 63 TD controls with high and low levels of autistic traits. Parent-report scales concerning ASD and ADHD symptoms were collected. ASD children with and without comorbid ADHD both exhibited lower IA than TD children. Reduced IA was also found in TD children with high-autistic traits relative to those with low-autistic traits. IA was negatively correlated with autistic and ADHD symptoms. Atypical cardiac interoception could be found in children with ASD. Difficulties in sensing and comprehending internal bodily signals in childhood may be related to both ASD and ADHD symptoms. LAY SUMMARY: The present study examined interoceptive accuracy (IA) in children with autism spectrum disorders (ASD), children with comorbid ASD and attention-deficit/hyperactivity disorder (ADHD), and typically developing (TD) children with high and low levels of autistic traits. ASD children with and without comorbid ADHD both exhibited lower IA than TD children. TD children with high-autistic traits exhibited decreased IA compared to those with low-autistic traits. These results have implications for understanding sensory atypicality found in ASD and ADHD. En ligne : https://dx.doi.org/10.1002/aur.2679 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=473 [article] Decreased interoceptive accuracy in children with autism spectrum disorder and with comorbid attention deficit/hyperactivity disorder [texte imprimé] / Han-Xue YANG, Auteur ; Han-Yu ZHOU, Auteur ; Ying LI, Auteur ; Yong-Hua CUI, Auteur ; Yang XIANG, Auteur ; Rong-Man YUAN, Auteur ; Simon S.Y. LUI, Auteur ; Raymond C.K. CHAN, Auteur . - p.729-739. Langues : Anglais (eng) in Autism Research > 15-4 (April 2022) . - p.729-739 Mots-clés : Adult  Attention Deficit Disorder with  Hyperactivity/complications/diagnosis/epidemiology  Autism Spectrum Disorder/complications/diagnosis/epidemiology  Autistic Disorder  Child  Comorbidity  Humans  Interoception  autism spectrum disorders  autistic traits  eye-tracking Index. décimale : PER Périodiques Résumé : Interoception refers to the awareness of internal physiological state. Several previous studies reported that people with autism spectrum disorders (ASD) and adults with attention-deficit/hyperactivity disorder (ADHD) have diverse patterns of interoception, but the extent of literature is limited and inconsistent. This study aimed to investigate the interoceptive accuracy (IA) in children with ASD, children with comorbid ASD and ADHD, and typically developing (TD) children with high and low levels of autistic traits. We administered the eye-tracking interoceptive accuracy task (EIAT) to 30 children with ASD, 20 children with comorbid ASD and ADHD, and 63 TD controls with high and low levels of autistic traits. Parent-report scales concerning ASD and ADHD symptoms were collected. ASD children with and without comorbid ADHD both exhibited lower IA than TD children. Reduced IA was also found in TD children with high-autistic traits relative to those with low-autistic traits. IA was negatively correlated with autistic and ADHD symptoms. Atypical cardiac interoception could be found in children with ASD. Difficulties in sensing and comprehending internal bodily signals in childhood may be related to both ASD and ADHD symptoms. LAY SUMMARY: The present study examined interoceptive accuracy (IA) in children with autism spectrum disorders (ASD), children with comorbid ASD and attention-deficit/hyperactivity disorder (ADHD), and typically developing (TD) children with high and low levels of autistic traits. ASD children with and without comorbid ADHD both exhibited lower IA than TD children. TD children with high-autistic traits exhibited decreased IA compared to those with low-autistic traits. These results have implications for understanding sensory atypicality found in ASD and ADHD. En ligne : https://dx.doi.org/10.1002/aur.2679 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=473

Transdiagnostic and sex differences in cognitive profiles of autism spectrum disorder and attention-deficit/hyperactivity disorder / Hirokazu DOI in Autism Research, 15-6 (June 2022)  

Public ISBD [article]  inAutism Research > 15-6 (June 2022) . - p.1130-1141 Titre : Transdiagnostic and sex differences in cognitive profiles of autism spectrum disorder and attention-deficit/hyperactivity disorder Type de document : texte imprimé Auteurs : Hirokazu DOI, Auteur ; Chieko KANAI, Auteur ; Haruhisa OHTA, Auteur Article en page(s) : p.1130-1141 Langues : Anglais (eng) Mots-clés : Adult  Attention Deficit Disorder with  Hyperactivity/complications/diagnosis/epidemiology  Autism Spectrum Disorder/psychology  Cognition  Female  Humans  Male  Sex Characteristics  Wechsler Scales  Adhd  Asd  Wais  cognitive profile  sex difference Index. décimale : PER Périodiques Résumé : An increasing number of studies have shown that autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) share symptoms and aetiologies. However, transdiagnostic comparisons between ASD and ADHD is complicated due to the sex differences within each condition. To clarify the similarities and differences in the cognitive functioning between ASD and ADHD, while considering potential sex differences, this study compared cognitive profiles assessed by the WAIS-III between the four groups created by orthogonally combining diagnosis and sex based on the data from 277 ASD males, 86 ASD females, 99 ADHD males and 64 ADHD females. The analysis revealed three major findings. First, performance IQ and perceptual organization index were higher in ADHD males than in ASD males and ADHD females. Second, Gaussian mixture model fitting revealed two clusters underlying the distribution of subindex scores. The percentage of being classified into the cluster that scored lower in all the subindices was higher in females than in males irrespective of diagnosis. Third, feature importance for classification of ASD and ADHD yielded by random forest classifier, a supervised machine learning algorithm, revealed that autism quotient was most informative feature in classifying ASD and ADHD in males, while the discrepancy between verbal and performance intelligence quotient was in females, indicating that the set of behavioral features contributing to classification differs between males and females. Thus, these findings indicate that sex as well as diagnosis is critical in determining the cognitive profiles of people with ASD and ADHD. LAY SUMMARY: The present study compared profiles of cognitive functions measured by Wechsler Adult Intelligence Scale between males and females with ASD and ADHD. The analyses revealed clear sex differences in cognitive functions in both ASD and ADHD and that the set of cognitive functions useful in classifying ASD and ADHD differed between males and females. Thus, biological sex seems to be a critical factor in determining the cognitive profiles of people with ASD and ADHD. En ligne : http://dx.doi.org/10.1002/aur.2712 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=476 [article] Transdiagnostic and sex differences in cognitive profiles of autism spectrum disorder and attention-deficit/hyperactivity disorder [texte imprimé] / Hirokazu DOI, Auteur ; Chieko KANAI, Auteur ; Haruhisa OHTA, Auteur . - p.1130-1141. Langues : Anglais (eng) in Autism Research > 15-6 (June 2022) . - p.1130-1141 Mots-clés : Adult  Attention Deficit Disorder with  Hyperactivity/complications/diagnosis/epidemiology  Autism Spectrum Disorder/psychology  Cognition  Female  Humans  Male  Sex Characteristics  Wechsler Scales  Adhd  Asd  Wais  cognitive profile  sex difference Index. décimale : PER Périodiques Résumé : An increasing number of studies have shown that autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) share symptoms and aetiologies. However, transdiagnostic comparisons between ASD and ADHD is complicated due to the sex differences within each condition. To clarify the similarities and differences in the cognitive functioning between ASD and ADHD, while considering potential sex differences, this study compared cognitive profiles assessed by the WAIS-III between the four groups created by orthogonally combining diagnosis and sex based on the data from 277 ASD males, 86 ASD females, 99 ADHD males and 64 ADHD females. The analysis revealed three major findings. First, performance IQ and perceptual organization index were higher in ADHD males than in ASD males and ADHD females. Second, Gaussian mixture model fitting revealed two clusters underlying the distribution of subindex scores. The percentage of being classified into the cluster that scored lower in all the subindices was higher in females than in males irrespective of diagnosis. Third, feature importance for classification of ASD and ADHD yielded by random forest classifier, a supervised machine learning algorithm, revealed that autism quotient was most informative feature in classifying ASD and ADHD in males, while the discrepancy between verbal and performance intelligence quotient was in females, indicating that the set of behavioral features contributing to classification differs between males and females. Thus, these findings indicate that sex as well as diagnosis is critical in determining the cognitive profiles of people with ASD and ADHD. LAY SUMMARY: The present study compared profiles of cognitive functions measured by Wechsler Adult Intelligence Scale between males and females with ASD and ADHD. The analyses revealed clear sex differences in cognitive functions in both ASD and ADHD and that the set of cognitive functions useful in classifying ASD and ADHD differed between males and females. Thus, biological sex seems to be a critical factor in determining the cognitive profiles of people with ASD and ADHD. En ligne : http://dx.doi.org/10.1002/aur.2712 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=476

An electronic health record (EHR) phenotype algorithm to identify patients with attention deficit hyperactivity disorders (ADHD) and psychiatric comorbidities / Isabella SLABY in Journal of Neurodevelopmental Disorders, 14 (2022)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 14 (2022) Titre : An electronic health record (EHR) phenotype algorithm to identify patients with attention deficit hyperactivity disorders (ADHD) and psychiatric comorbidities Type de document : texte imprimé Auteurs : Isabella SLABY, Auteur ; Heather S. HAIN, Auteur ; Debra ABRAMS, Auteur ; Frank D. MENTCH, Auteur ; Joseph T. GLESSNER, Auteur ; Patrick M.A. SLEIMAN, Auteur ; Hakon HAKONARSON, Auteur Langues : Anglais (eng) Mots-clés : Algorithms  Attention Deficit Disorder with  Hyperactivity/complications/diagnosis/epidemiology  Case-Control Studies  Child  Comorbidity  Electronic Health Records  Humans  Phenotype  Prospective Studies  Retrospective Studies Index. décimale : PER Périodiques Résumé : BACKGROUND: In over half of pediatric cases, ADHD presents with comorbidities, and often, it is unclear whether the symptoms causing impairment are due to the comorbidity or the underlying ADHD. Comorbid conditions increase the likelihood for a more severe and persistent course and complicate treatment decisions. Therefore, it is highly important to establish an algorithm that identifies ADHD and comorbidities in order to improve research on ADHD using biorepository and other electronic record data. METHODS: It is feasible to accurately distinguish between ADHD in isolation from ADHD with comorbidities using an electronic algorithm designed to include other psychiatric disorders. We sought to develop an EHR phenotype algorithm to discriminate cases with ADHD in isolation from cases with ADHD with comorbidities more effectively for efficient future searches in large biorepositories. We developed a multi-source algorithm allowing for a more complete view of the patient's EHR, leveraging the biobank of the Center for Applied Genomics (CAG) at Children's Hospital of Philadelphia (CHOP). We mined EHRs from 2009 to 2016 using International Statistical Classification of Diseases and Related Health Problems (ICD) codes, medication history and keywords specific to ADHD, and comorbid psychiatric disorders to facilitate genotype-phenotype correlation efforts. Chart abstractions and behavioral surveys added evidence in support of the psychiatric diagnoses. Most notably, the algorithm did not exclude other psychiatric disorders, as is the case in many previous algorithms. Controls lacked psychiatric and other neurological disorders. Participants enrolled in various CAG studies at CHOP and completed a broad informed consent, including consent for prospective analyses of EHRs. We created and validated an EHR-based algorithm to classify ADHD and comorbid psychiatric status in a pediatric healthcare network to be used in future genetic analyses and discovery-based studies. RESULTS: In this retrospective case-control study that included data from 51,293 subjects, 5840 ADHD cases were discovered of which 46.1% had ADHD alone and 53.9% had ADHD with psychiatric comorbidities. Our primary study outcome was to examine whether the algorithm could identify and distinguish ADHD exclusive cases from ADHD comorbid cases. The results indicate ICD codes coupled with medication searches revealed the most cases. We discovered ADHD-related keywords did not increase yield. However, we found including ADHD-specific medications increased our number of cases by 21%. Positive predictive values (PPVs) were 95% for ADHD cases and 93% for controls. CONCLUSION: We established a new algorithm and demonstrated the feasibility of the electronic algorithm approach to accurately diagnose ADHD and comorbid conditions, verifying the efficiency of our large biorepository for further genetic discovery-based analyses. TRIAL REGISTRATION: ClinicalTrials.gov, NCT02286817 . First posted on 10 November 2014. CLINICALTRIALS: gov, NCT02777931 . First posted on 19 May 2016. CLINICALTRIALS: gov, NCT03006367 . First posted on 30 December 2016. CLINICALTRIALS: gov, NCT02895906 . First posted on 12 September 2016. En ligne : https://dx.doi.org/10.1186/s11689-022-09447-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] An electronic health record (EHR) phenotype algorithm to identify patients with attention deficit hyperactivity disorders (ADHD) and psychiatric comorbidities [texte imprimé] / Isabella SLABY, Auteur ; Heather S. HAIN, Auteur ; Debra ABRAMS, Auteur ; Frank D. MENTCH, Auteur ; Joseph T. GLESSNER, Auteur ; Patrick M.A. SLEIMAN, Auteur ; Hakon HAKONARSON, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 14 (2022) Mots-clés : Algorithms  Attention Deficit Disorder with  Hyperactivity/complications/diagnosis/epidemiology  Case-Control Studies  Child  Comorbidity  Electronic Health Records  Humans  Phenotype  Prospective Studies  Retrospective Studies Index. décimale : PER Périodiques Résumé : BACKGROUND: In over half of pediatric cases, ADHD presents with comorbidities, and often, it is unclear whether the symptoms causing impairment are due to the comorbidity or the underlying ADHD. Comorbid conditions increase the likelihood for a more severe and persistent course and complicate treatment decisions. Therefore, it is highly important to establish an algorithm that identifies ADHD and comorbidities in order to improve research on ADHD using biorepository and other electronic record data. METHODS: It is feasible to accurately distinguish between ADHD in isolation from ADHD with comorbidities using an electronic algorithm designed to include other psychiatric disorders. We sought to develop an EHR phenotype algorithm to discriminate cases with ADHD in isolation from cases with ADHD with comorbidities more effectively for efficient future searches in large biorepositories. We developed a multi-source algorithm allowing for a more complete view of the patient's EHR, leveraging the biobank of the Center for Applied Genomics (CAG) at Children's Hospital of Philadelphia (CHOP). We mined EHRs from 2009 to 2016 using International Statistical Classification of Diseases and Related Health Problems (ICD) codes, medication history and keywords specific to ADHD, and comorbid psychiatric disorders to facilitate genotype-phenotype correlation efforts. Chart abstractions and behavioral surveys added evidence in support of the psychiatric diagnoses. Most notably, the algorithm did not exclude other psychiatric disorders, as is the case in many previous algorithms. Controls lacked psychiatric and other neurological disorders. Participants enrolled in various CAG studies at CHOP and completed a broad informed consent, including consent for prospective analyses of EHRs. We created and validated an EHR-based algorithm to classify ADHD and comorbid psychiatric status in a pediatric healthcare network to be used in future genetic analyses and discovery-based studies. RESULTS: In this retrospective case-control study that included data from 51,293 subjects, 5840 ADHD cases were discovered of which 46.1% had ADHD alone and 53.9% had ADHD with psychiatric comorbidities. Our primary study outcome was to examine whether the algorithm could identify and distinguish ADHD exclusive cases from ADHD comorbid cases. The results indicate ICD codes coupled with medication searches revealed the most cases. We discovered ADHD-related keywords did not increase yield. However, we found including ADHD-specific medications increased our number of cases by 21%. Positive predictive values (PPVs) were 95% for ADHD cases and 93% for controls. CONCLUSION: We established a new algorithm and demonstrated the feasibility of the electronic algorithm approach to accurately diagnose ADHD and comorbid conditions, verifying the efficiency of our large biorepository for further genetic discovery-based analyses. TRIAL REGISTRATION: ClinicalTrials.gov, NCT02286817 . First posted on 10 November 2014. CLINICALTRIALS: gov, NCT02777931 . First posted on 19 May 2016. CLINICALTRIALS: gov, NCT03006367 . First posted on 30 December 2016. CLINICALTRIALS: gov, NCT02895906 . First posted on 12 September 2016. En ligne : https://dx.doi.org/10.1186/s11689-022-09447-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Co-occurring ADHD symptoms in autistic adults are associated with less independence in daily living activities and lower subjective quality of life / Benjamin E. YERYS in Autism, 26-8 (November 2022)  

Public ISBD [article]  inAutism > 26-8 (November 2022) . - p.2188-2195 Titre : Co-occurring ADHD symptoms in autistic adults are associated with less independence in daily living activities and lower subjective quality of life Type de document : texte imprimé Auteurs : Benjamin E. YERYS, Auteur ; Goldie A. MCQUAID, Auteur ; Nancy R. LEE, Auteur ; Gregory L. WALLACE, Auteur Article en page(s) : p.2188-2195 Langues : Anglais (eng) Mots-clés : Adult  Humans  Female  Male  Attention Deficit Disorder with  Hyperactivity/complications/epidemiology/diagnosis  Autistic Disorder/complications/epidemiology/diagnosis  Activities of Daily Living/psychology  Quality of Life  Autism Spectrum Disorder/complications/epidemiology/diagnosis  attention-deficit/hyperactivity disorder  autism  daily living skills Index. décimale : PER Périodiques Résumé : Outcomes for autistic adults are generally poor, including activities of daily living and self-ratings of quality of life. Co-occurring psychiatric conditions contribute to these poor outcomes. Attention-deficit/hyperactivity disorder is one of the most common co-occurring conditions in autistic individuals. However, we know little about the association between attention-deficit/hyperactivity disorder symptoms and outcomes in autistic adults. A total of 724 autistic adults (18-83 years; 58% female) recruited from the Simons Foundation Powering Autism Research participant registry completed questionnaires on demographics, co-occurring psychiatric conditions, activities of daily living, and subjective quality of life. Autistic adults who rated themselves as having more attention-deficit/hyperactivity disorder symptoms also rated themselves as having less independence in activities of daily living and a lower quality of life. This is the first study to show these relationships in autistic adults. These findings highlight that additional research and better supports for co-occurring attention-deficit/hyperactivity disorder symptoms may be critical to improving independence and quality of life for autistic adults. En ligne : http://dx.doi.org/10.1177/13623613221112198 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=488 [article] Co-occurring ADHD symptoms in autistic adults are associated with less independence in daily living activities and lower subjective quality of life [texte imprimé] / Benjamin E. YERYS, Auteur ; Goldie A. MCQUAID, Auteur ; Nancy R. LEE, Auteur ; Gregory L. WALLACE, Auteur . - p.2188-2195. Langues : Anglais (eng) in Autism > 26-8 (November 2022) . - p.2188-2195 Mots-clés : Adult  Humans  Female  Male  Attention Deficit Disorder with  Hyperactivity/complications/epidemiology/diagnosis  Autistic Disorder/complications/epidemiology/diagnosis  Activities of Daily Living/psychology  Quality of Life  Autism Spectrum Disorder/complications/epidemiology/diagnosis  attention-deficit/hyperactivity disorder  autism  daily living skills Index. décimale : PER Périodiques Résumé : Outcomes for autistic adults are generally poor, including activities of daily living and self-ratings of quality of life. Co-occurring psychiatric conditions contribute to these poor outcomes. Attention-deficit/hyperactivity disorder is one of the most common co-occurring conditions in autistic individuals. However, we know little about the association between attention-deficit/hyperactivity disorder symptoms and outcomes in autistic adults. A total of 724 autistic adults (18-83 years; 58% female) recruited from the Simons Foundation Powering Autism Research participant registry completed questionnaires on demographics, co-occurring psychiatric conditions, activities of daily living, and subjective quality of life. Autistic adults who rated themselves as having more attention-deficit/hyperactivity disorder symptoms also rated themselves as having less independence in activities of daily living and a lower quality of life. This is the first study to show these relationships in autistic adults. These findings highlight that additional research and better supports for co-occurring attention-deficit/hyperactivity disorder symptoms may be critical to improving independence and quality of life for autistic adults. En ligne : http://dx.doi.org/10.1177/13623613221112198 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=488

Common and rare variant analyses implicate late-infancy cerebellar development and immune genes in ADHD / Yuanxin ZHONG in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Common and rare variant analyses implicate late-infancy cerebellar development and immune genes in ADHD Type de document : texte imprimé Auteurs : Yuanxin ZHONG, Auteur ; Larry W. BAUM, Auteur ; Justin D. TUBBS, Auteur ; Rui YE, Auteur ; Lu Hua CHEN, Auteur ; Tian WU, Auteur ; Se-fong HUNG, Auteur ; Chun-pan TANG, Auteur ; Ting-pong HO, Auteur ; Robert MOYZIS, Auteur ; James SWANSON, Auteur ; Chi-chiu LEE, Auteur ; Pak C. SHAM, Auteur ; Patrick W.L. LEUNG, Auteur Langues : Anglais (eng) Mots-clés : Humans  Attention Deficit Disorder with  Hyperactivity/genetics/immunology/physiopathology  Cerebellum/growth & development/diagnostic imaging/physiopathology  Male  Female  Genome-Wide Association Study  Genetic Predisposition to Disease  Child  Magnetic Resonance Imaging  Hong Kong  Polymorphism, Single Nucleotide  Infant  Adhd  Cerebellum  Common variant  Immune response  Late-infancy  Low-frequency / rare variant  University of Hong Kong-New Territories East Cluster, the Hospital Authority  Kowloon Central and Kowloon West Cluster Clinical Research Ethics Committee  provided ethical approval for this study, which complies with the most recent  Declaration of Helsinki. All participants provided informed consent for the  current study. Consent for publication: Not applicable. Competing interests: The  authors declare no competing interests. Index. décimale : PER Périodiques Résumé : OBJECTIVE: Attention-deficit hyperactivity disorder (ADHD) is a common neuropsychiatric disorder with a significant genetic component. The latest genome-wide association study (GWAS) meta-analysis of ADHD identified 27 whole-genome significant risk loci in the European population. However, genetic risk factors for ADHD are less well-characterized in the Asian population, especially for low-frequency / rare variants. METHODS: In this study, we aimed to investigate the contributions of both common and low-frequency / rare variants to ADHD in a Hong Kong sample. Our sample comprised 279 cases and 432 controls who underwent genotyping using the Illumina Infinium Global Screening Array. We employed various analytical methods at different levels, while also leveraging multi-omics data and large-scale summary statistics to comprehensively analyze the genetic basis of ADHD. RESULTS: We identified 41 potential genomic risk loci with a suggestive association (p < 1e(-4)), pointing to 111 candidate risk genes, which were enriched for genes differentially expressed during late infancy brain development. Furthermore, tissue enrichment analysis implicated the involvement of the cerebellum. At the polygenic level, we also discovered a strong genetic correlation with resting-state functional MRI connectivity of the cerebellum involved in the attention/central executive and subcortical-cerebellum networks. In addition, an accumulation of ADHD common-variant risks found in European ancestry samples was found to be significantly associated with ADHD in the current study. In low-frequency / rare variant analyses, we discovered the correlations between ADHD and collapsing effects of rare damaging variants in TEP1, MTMR10, DBH, TBCC, and ANO1. Based on biological and functional profiles of the potential risk genes and gene sets, both common and low-frequency / rare variant analyses demonstrated that ADHD genetic risk was associated with immune processes. CONCLUSIONS: These findings re-validate the abnormal development of the neural system in ADHD and extend the existing neuro-dysfunction hypothesis to a multi-system perspective. The current study identified convergent risk factors from common and low-frequency / rare variants, which implicates vulnerability in late-infancy brain development, affecting especially the cerebellum, and the involvement of immune processes. En ligne : https://dx.doi.org/10.1186/s11689-025-09626-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Common and rare variant analyses implicate late-infancy cerebellar development and immune genes in ADHD [texte imprimé] / Yuanxin ZHONG, Auteur ; Larry W. BAUM, Auteur ; Justin D. TUBBS, Auteur ; Rui YE, Auteur ; Lu Hua CHEN, Auteur ; Tian WU, Auteur ; Se-fong HUNG, Auteur ; Chun-pan TANG, Auteur ; Ting-pong HO, Auteur ; Robert MOYZIS, Auteur ; James SWANSON, Auteur ; Chi-chiu LEE, Auteur ; Pak C. SHAM, Auteur ; Patrick W.L. LEUNG, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  Attention Deficit Disorder with  Hyperactivity/genetics/immunology/physiopathology  Cerebellum/growth & development/diagnostic imaging/physiopathology  Male  Female  Genome-Wide Association Study  Genetic Predisposition to Disease  Child  Magnetic Resonance Imaging  Hong Kong  Polymorphism, Single Nucleotide  Infant  Adhd  Cerebellum  Common variant  Immune response  Late-infancy  Low-frequency / rare variant  University of Hong Kong-New Territories East Cluster, the Hospital Authority  Kowloon Central and Kowloon West Cluster Clinical Research Ethics Committee  provided ethical approval for this study, which complies with the most recent  Declaration of Helsinki. All participants provided informed consent for the  current study. Consent for publication: Not applicable. Competing interests: The  authors declare no competing interests. Index. décimale : PER Périodiques Résumé : OBJECTIVE: Attention-deficit hyperactivity disorder (ADHD) is a common neuropsychiatric disorder with a significant genetic component. The latest genome-wide association study (GWAS) meta-analysis of ADHD identified 27 whole-genome significant risk loci in the European population. However, genetic risk factors for ADHD are less well-characterized in the Asian population, especially for low-frequency / rare variants. METHODS: In this study, we aimed to investigate the contributions of both common and low-frequency / rare variants to ADHD in a Hong Kong sample. Our sample comprised 279 cases and 432 controls who underwent genotyping using the Illumina Infinium Global Screening Array. We employed various analytical methods at different levels, while also leveraging multi-omics data and large-scale summary statistics to comprehensively analyze the genetic basis of ADHD. RESULTS: We identified 41 potential genomic risk loci with a suggestive association (p < 1e(-4)), pointing to 111 candidate risk genes, which were enriched for genes differentially expressed during late infancy brain development. Furthermore, tissue enrichment analysis implicated the involvement of the cerebellum. At the polygenic level, we also discovered a strong genetic correlation with resting-state functional MRI connectivity of the cerebellum involved in the attention/central executive and subcortical-cerebellum networks. In addition, an accumulation of ADHD common-variant risks found in European ancestry samples was found to be significantly associated with ADHD in the current study. In low-frequency / rare variant analyses, we discovered the correlations between ADHD and collapsing effects of rare damaging variants in TEP1, MTMR10, DBH, TBCC, and ANO1. Based on biological and functional profiles of the potential risk genes and gene sets, both common and low-frequency / rare variant analyses demonstrated that ADHD genetic risk was associated with immune processes. CONCLUSIONS: These findings re-validate the abnormal development of the neural system in ADHD and extend the existing neuro-dysfunction hypothesis to a multi-system perspective. The current study identified convergent risk factors from common and low-frequency / rare variants, which implicates vulnerability in late-infancy brain development, affecting especially the cerebellum, and the involvement of immune processes. En ligne : https://dx.doi.org/10.1186/s11689-025-09626-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Early manifestations of genetic risk for neurodevelopmental disorders / Ragna Bugge ASKELAND in Journal of Child Psychology and Psychiatry, 63-7 (July 2022)  

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