Cancer Care of Children, Adolescents and Adults With Autism Spectrum Disorders: Key Information and Strategies for Oncology Teams

Vuattoux, Delphine; Colomer‐Lahiguera, Sara; Fernandez, Pierre-Alain; Gygax, Marine Jequier; Choucair, Marie-Louise; Beck‐Popovic, Maja; Diezi, Manuel; Manificat, Sabine; Latifyan, Sofiya; Ramelet, Anne‐Sylvie; Eicher, Manuela; Chabane, Nadia; Renella, Raffaele

doi:10.3389/fonc.2020.595734

Cited by 6 publications

(4 citation statements)

References 84 publications

(92 reference statements)

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“…In the absence of higher-grade evidence, they are intended as a call for vigilance of the particularities of these highly vulnerable individuals. (Vuattoux et al, 2021). In one study exploration of the mutations, reconstructed disorder specific networks, pathways, and transcriptome levels and profiles of autism spectrum disorder (ASD) and cancers, point to signalling strength as the key factor: strong signalling promotes cell proliferation in cancer, and weaker (moderate) signalling impacts differentiation in ASD (Yavuz et al, 2023).…”

Section: Discussionmentioning

confidence: 99%

Association between Autism Spectrum Disorder and Cancer - a Review from the Literature

Trajkovski

2024

J. Heal. Rehab. Sci.

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Introduction: Autism spectrum disorder (ASD) is neurodevelopmental polygenic disorder with strong genetic component. In adult period, it is associated with many chronic diseases including diabetes, hypertension, cardiovascular disease, and cancer. The aim of this article is to show possible connection between autism spectrum disorder and some kinds of cancers, and to show possible pathways for prevention and treatment. Methodology: The PubMed and Google Scholar databases were searched using the keywords: autism spectrum disorder, genetics, cancer, prevention and treatment. Results: Autism spectrum disorder is associated with high rates of genomic aberrations, including chromosomal rearrangements and de novo copy-number variations. Autism and cancer share 43 risk genes, suggesting that common mechanisms underlying the functions of some of these genes could conceivably be leveraged to develop therapies not just for cancer but for autism as well. Pleiotropy, whereby gene variants exert effects on multiple phenotypes, has been the source of increasing research attention with ASD and cancer. Germline loss-of-function PTEN mutations increase the rate of benign and malignant tumors and also manifest as ASD and macrocephaly. Mutations in TSC1 and TSC2 genes cause tuberous sclerosis complex which is characterized by cortical tubers, and neurocognitive phenotypes including epilepsy, ASD, and intellectual disability (ID). Conclusion: There is may be an association between autism and specific forms of cancer. Further epidemiologic research in large populations is needed to elucidate the association between autism and cancer and identify explanatory factors. Approved drugs targeting oncogenic pathways might also have therapeutic value for treating autism spectrum disorder.

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Section: Discussionmentioning

confidence: 99%

Association between Autism Spectrum Disorder and Cancer - a Review from the Literature

Trajkovski

2024

J. Heal. Rehab. Sci.

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“…12 Other studies have not suggested an increased association. 13,14 The prevalence of autism in a North Carolina population found that out of 702 cancer patients, seven (1%, 95% CI of 0.4% -2.04%) were labeled as AD in their medical records. The diagnosis of AD was made prior to cancer presentation in five of the seven of the patients; in the other two, obvious behavioral issues at cancer presentation led to an evaluation which suggested AD.…”

Section: Discussionmentioning

confidence: 99%

B-cell lymphoblastic leukemia in an adolescent with Dravet syndrome

Corey

Zobi

Hurtz³

et al. 2023

Preprint

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A 19 year-old adolescent girl with Dravet syndrome, characterized by complex seizure disorder and global developmental delay, presented with B-cell acute lymphoblastic leukemia. The genetic basis for her Dravet syndrome was a pathogenic variant in SCN1A, a sodium channel subunit. SCN1A is chiefly expressed in neuronal tissue, but bioinformatic analysis demonstrated its presence in B cell lineage. One estimate suggested that 10% of children with pediatric cancer have a germline predisposition involving proto-oncogenes or tumor suppressors. This number might be even higher should non-classical genetic variants, such as that encoding a sodium channel subunit, be considered.

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“…10 Other studies have not suggested an increased association. 11,12 The prevalence of autism in a North Carolina population found that out of 702 cancer patients, seven (1%, CI of 0.4%-2.04%) were labeled as AD. The diagnosis of AD was made prior to cancer presentation in five of the seven patients; in the other two, behavioral issues at cancer presentation led to an evaluation that suggested AD.…”

Section: E T T E R T O T H E E D I T O R B-cell Lymphoblastic Leukemi...mentioning

confidence: 99%

“…/46, XX, inv(9)(p12q13)c[12]. She received anti-leukemic therapy per Children's Oncology Group (COG) AALL1732 and is currently in complete remission.She had first demonstrated seizures at age of 4 months 2−3 days after her immunizations, which consisted of staring and lasted for as long as 1 minute.…”

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confidence: 99%