The Monash Autism-ADHD genetics and neurodevelopment (MAGNET) project design and methodologies: a dimensional approach to understanding neurobiological and genetic aetiology

Knott, Rachael; Johnson, Beth; Tiego, Jeggan; Mellahn, Olivia; Finlay, Amy; Kallady, Kathryn; Kouspos, Maria; Sindhu, Vishnu Priya Mohanakumar; Hawi, Ziarih; Arnatkevičiūtė, Aurina; Chau, Tracey; Maron, Dalia; Mercieca, Emily Clare; Furley, Kirsten; Harris, Katrina; Williams, Katrina; Ure, Alexandra; Fornito, Alex; Gray, Kylie Megan; Coghill, David; Nicholson, Ann E.; Phung, Dinh; Loth, Eva; Mason, Luke; Murphy, Declan; Buitelaar, Jan K.; Bellgrove, Mark A.

doi:10.1186/s13229-021-00457-3

Cited by 7 publications

(4 citation statements)

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“…Considerations are already being made on autism with the RDoC framework (Harrison et al, 2021;Hennessey et al, 2018;Ibrahim & Sukhodolsky, 2018) but much remains to be done. Other medical taxonomies and models exist (Gillberg, 2010;Knott et al, 2021;Kotov et al, 2017;Salicru, 2020) but don't fully include the genetic overlap between neurodevelopmental disorders.…”

Section: Ii) Switching From "Individual" Neurodevelopmental Disorders...mentioning

confidence: 99%

“…Des réflexions sont déjà menées sur l'autisme avec le cadre du RDoC (Harrison et al, 2021 ;Hennessey et al, 2018 ;Ibrahim & Sukhodolsky, 2018) mais beaucoup reste à faire. D'autres taxonomies et modèles médicaux existent (Gillberg, 2010 ;Knott et al, 2021 ;Kotov et al, 2017 ;Salicru, 2020) mais n'incluent pas complètement le chevauchement génétique entre les troubles du neurodéveloppement. B) Caractéristiques phénotypiques et génétiques partagées en intra-psychopathologie : chevauchement et continuum neurodéveloppemental Les relations entre les différentes pathologies se retrouvent dans des variations génétiques partagées.…”

Section: Ii) Passer Des Troubles Neurodéveloppementaux « Individuels ...unclassified

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Reflection on the future of autism research: the continuum hypothesis - Réflexion sur l'avenir de la recherche sur l'autisme : l'hypothèse du continuum

Rebecchi¹

2023

Preprint

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Since about a century, researchers and clinicians have tried to find a drug treatment, diagnostic rubrics and therapy to treat autism. Yet, Sukhareva, Kanner and Asperger wondered about autism etiology and pathogenesis and continued for decades with no result. Thus, one of the very first problems of autism has been to find a consensual definition. Neither Wing’s Triad nor successive international classifications and manuals have been able to answer these questions clearly and definitively. In this paper, I discuss the “continuum hypothesis”, meaning that there is a tree of neurodevelopmental disorders and that autism could be only one of the sub-branches. I will highlight all the research that argues for a phenotypic and genetic overlap between neurodevelopmental disorders. The hypothesis of a continuum is materialized through the existence of a "neurodevelopmental disorders tree" composed of three elements grouping under the same framework the autism spectrum disorder, the attention-deficit disorder with or without hyperactivity, the schizophrenia spectrum and bipolar disorders: a Global Neurodevelopmental Disorder, an Extreme Sensitivity to the Environment Syndrome and a Neurotransmission Systems Dysfunction Disorder.RésuméDepuis environ un siècle, les chercheurs et les cliniciens ont essayé de trouver un traitement médicamenteux, des rubriques de diagnostic et une thérapie pour traiter l'autisme. Déjà, Sukhareva, Kanner et Asperger se sont interrogés sur l'étiologie et la pathogenèse de l'autisme et ont continué pendant des décennies sans résultat. Ainsi, l'un des tout premiers problèmes de l'autisme a été de trouver une définition consensuelle. Ni la triade de Wing, ni les classifications et manuels internationaux successifs n'ont pu répondre à ces questions de manière claire et définitive. Dans cet article, je discute de l' « hypothèse du continuum », c'est-à-dire qu'il existe un arbre des troubles du développement neurologique et que l'autisme pourrait n'être qu'une des sous-branches. Je mettrai en évidence toutes les recherches qui plaident en faveur d'un chevauchement phénotypique et génétique entre les troubles neurodéveloppementaux. L'hypothèse d'un continuum se matérialise par l'existence d'un « arbre des troubles neurodéveloppementaux » composé de trois éléments regroupant dans un même cadre le trouble du spectre autistique, le trouble du déficit de l'attention avec ou sans hyperactivité, le spectre de la schizophrénie et les troubles bipolaires : un trouble global du neurodéveloppement, un syndrome de sensibilité extrême à l'environnement et un trouble de dysfonctionnement des systèmes de neurotransmission.

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Section: Ii) Switching From "Individual" Neurodevelopmental Disorders...mentioning

confidence: 99%

Section: Ii) Passer Des Troubles Neurodéveloppementaux « Individuels ...unclassified

Reflection on the future of autism research: the continuum hypothesis - Réflexion sur l'avenir de la recherche sur l'autisme : l'hypothèse du continuum

Rebecchi¹

2023

Preprint

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“…Similar rare variants, CNVs and GWAS single nucleotide polymorphisms have been implicated through anomalies of a gene set labelled CLOCK (circadian locomotor output cycles kaput) genes; these anomalies are specifically linked to sleep disorders in ASD/ADHD. 50 Charrier and associates consider these linkages and the numerous genes involved; however, these are too detailed to discuss in this review. 47 Ventral striatum…”

Section: Co-occurring and Interacting Variablesmentioning

confidence: 99%

Management of sleep disorders in autism spectrum disorder with co-occurring attention-deficit hyperactivity disorder: update for clinicians

Petti,

Gupta,

Fradkin

et al. 2023

BJPsych open

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Aims To update and examine available literature germane to the recognition, assessment and treatment of comorbid autism spectrum disorder (ASD), attention-deficit hyperactivity disorder (ADHD) and sleep disruption, with a predominant focus on children, adolescents and emerging adults. Background Considerable overlaps exist among ASD, ADHD and sleep disruption. Literature and guidance for clinicians, administrators, policy makers and families have been limited, as such deliberations were rarely considered until 2013. Method This narrative review of the literature addressing sleep disruption issues among those with ASD, ADHD and comorbid ASD and ADHD involved searching multiple databases and use of reverse citations up to the end of September 2022. Emphasis is placed on secondary sources and relevant data for clinical practice. Results Complex clinical presentations of ASD/ADHD/sleep disruption are frequently encountered in clinical practice. Prior to 2013, prevalence, clinical presentation, pathophysiology, prognosis, other sleep-related factors and interventions were determined separately for each disorder, often with overlapping objective and subjective methods employed in the process. High percentages of ADHD and ASD patients have both disorders and sleep disruption. Here, the extant literature is integrated to provide a multidimensional understanding of the relevant issues and insights, allowing enhanced awareness and better care of this complex clinical population. Database limitations are considered. Conclusions Assessment of ASD symptomatology in youth with ADHD, and the reverse, in cases with disrupted sleep is critical to address the special challenges for case formulation and treatment. Evidence-based approaches to treatment planning and multi-treatment modalities should consider combining psychosocial and biological interventions to address the complexities of each case.

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“…Australian & New Zealand Journal of Psychiatry,58(2) and received their diagnosis within the last six years to minimise retrospective bias. Caregivers were primarily recruited via social media Australia-wide (n = 594), with additional families coming from the Monash Autism and ADHD Genetics and Neurodevelopment (MAGNET) Project in Victoria, Australia (n = 83;Knott et al, 2021). See Supplementary Table S1 for recruitment numbers by Australian state.…”

Section: Participantsmentioning

confidence: 99%

Age at diagnosis and diagnostic delay across attention-deficit hyperactivity and autism spectrums

Knott,

Mellahn,

Tiego

et al. 2023

Aust N Z J Psychiatry

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Background: Despite the known benefits of accurate and timely diagnosis for children with attention-deficit hyperactivity disorder and autism spectrum disorders (autism), for some children this goal is not always achieved. Existing research has explored diagnostic delay for autism and attention-deficit hyperactivity disorder only, and when attention-deficit hyperactivity disorder and autism co-occur, autism has been the focus. No study has directly compared age at diagnosis and diagnostic delay for males and females across attention-deficit hyperactivity disorder, autism and specifically, attention-deficit hyperactivity disorder + autism. Methods: Australian caregivers ( N = 677) of children with attention-deficit hyperactivity disorder, autism or attention-deficit hyperactivity disorder + autism were recruited via social media ( n = 594) and the Monash Autism and ADHD Genetics and Neurodevelopment Project ( n = 83). Caregivers reported on their child’s diagnostic process. Diagnostic delay was the mean difference between general initial developmental concerns and the child’s attention-deficit hyperactivity disorder and autism diagnosis. Results: Children with autism were significantly younger at autism diagnosis than the attention-deficit hyperactivity disorder + autism group (ηp2 = 0.06), whereas children with attention-deficit hyperactivity disorder were significantly older at attention-deficit hyperactivity disorder diagnosis than the attention-deficit hyperactivity disorder + autism group (ηp2 = 0.01). Delay to attention-deficit hyperactivity disorder and autism diagnosis was significantly longer in the attention-deficit hyperactivity disorder + autism group compared to attention-deficit hyperactivity disorder (ηp2 = 0.02) and autism (η2 = 0.04) only. Delay to autism diagnosis for females with autism (η2 = 0.06) and attention-deficit hyperactivity disorder + autism (η2 = 0.04) was longer compared to males. Conclusions: Having attention-deficit hyperactivity disorder + autism and being female were associated with longer delays to diagnosis. The reasons for these delays and possible adverse effects on outcomes require further study.

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The Monash Autism-ADHD genetics and neurodevelopment (MAGNET) project design and methodologies: a dimensional approach to understanding neurobiological and genetic aetiology

Cited by 7 publications

References 296 publications

Reflection on the future of autism research: the continuum hypothesis - Réflexion sur l'avenir de la recherche sur l'autisme : l'hypothèse du continuum

Reflection on the future of autism research: the continuum hypothesis - Réflexion sur l'avenir de la recherche sur l'autisme : l'hypothèse du continuum

Management of sleep disorders in autism spectrum disorder with co-occurring attention-deficit hyperactivity disorder: update for clinicians

Age at diagnosis and diagnostic delay across attention-deficit hyperactivity and autism spectrums

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