212
Views
3
CrossRef citations to date
0
Altmetric
Research Article

Co-occurring medical conditions among individuals with ASD-associated disruptive mutations

, , , , , , & show all

References

  • Adams, D. J., Susi, A., Erdie-Lalena, C. R., Gorman, G., Hisle-Gorman, E., Rajnik, M., … Nylund, C. M. (2016). Otitis media and related complications among children with autism spectrum disorders. Journal of Autism and Developmental Disorders, 46(5), 1636–1642. doi:10.1007/s10803-015-2689-x
  • Aldinger, K. A., Lane, C. J., Veenstra‐VanderWeele, J., & Levitt, P. (2015). Patterns of risk for multiple co‐occurring medical conditions replicate across distinct cohorts of children with autism spectrum disorder. Autism Research, 8(6), 771–781. doi:10.1002/aur.1492
  • Allen, E. K., Chen, W. M., Weeks, D. E., Chen, F., Hou, X., Mattos, J. L., … Sale, M. M. (2013). A genome-wide association study of chronic otitis media with effusion and recurrent otitis media identifies a novel susceptibility locus on chromosome 2. Journal of the Association for Research in Otolaryngology, 14(6), 791–800. doi:10.1007/s10162-013-0411-2
  • American Academy of Pediatrics. (2002). The medical home. Pediatrics, 110(1), 184–186. doi:10.1542/peds.110.1.184
  • American Psychiatric Association. (2000). Diagnostic and statistical manual of mental disorders: DSM-IV-TR. Washington, DC: Author.
  • American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (DSM-5). Washington, DC: Author.
  • Arnett, A. B., Trinh, S., & Bernier, R. A. (2019). The state of research on the genetics of autism spectrum disorder: Methodological, clinical and conceptual progress. Current Opinion in Psychology, 27, 1–5. doi:10.1016/j.copsyc.2018.07.004
  • Asadollahi, R., Zweier, M., Gogoll, L., Schiffmann, R., Sticht, H., Steindl, K., & Rauch, A. (2017). Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. European Journal of Medical Genetics, 60(9), 451–464. doi:10.1016/j.ejmg.2017.06.004
  • Bain, J. M., Cho, M. T., Telegrafi, A., Wilson, A., Brooks, S., Botti, C., … Toler, T. L. (2016). Variants in HNRNPH2 on the X chromosome are associated with a neurodevelopmental disorder in females. The American Journal of Human Genetics, 99(3), 728–734. doi:10.1016/j.ajhg.2016.06.028
  • Baio, J., Wiggins, L., Christensen, D. L., Maenner, M. J., Daniels, J., Warren, Z., … Durkin, M. S. (2018). Prevalence of autism spectrum disorder among children aged 8 years—autism and developmental disabilities monitoring network, 11 sites, United States, 2014. MMWR Surveillance Summaries, 67(6), 1. doi:10.15585/mmwr.ss6706a1
  • Balasubramanian, M., Willoughby, J., Fry, A. E., Weber, A., Firth, H. V., Deshpande, C., … Pilz, D. T. (2017). Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. Journal of Medical Genetics, 54(8), 537–543. doi:10.1136/jmedgenet-2016-104360
  • Beighley, J. S., Hudac, C. M., Arnett, A. B., Peterson, J. L., Gerdts, J., Wallace, A. S., … Eichler, E. E. (2020). Clinical phenotypes of carriers of mutations in CHD8 or its conserved target genes. Biological Psychiatry, 87(2), 123–131. doi:10.1016/j.biopsych.2019.07.020
  • Bekheirnia, M. R., Bekheirnia, N., Bainbridge, M. N., Gu, S., Akdemir, Z. H. C., Gambin, T., … Brewer, E. D. (2017). Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genetics in Medicine, 19(4), 412. doi:10.1038/gim.2016.131
  • Bernier, R., Golzio, C., Xiong, B., Stessman, H. A., Coe, B. P., Penn, O., … Schuurs-Hoeijmakers, J. H. (2014). Disruptive CHD8 mutations define a subtype of autism early in development. Cell, 158(2), 263–276. doi:10.1016/j.cell.2014.06.017
  • Bønnelykke, K., Sparks, R., Waage, J., & Milner, J. D. (2015). Genetics of allergy and allergic sensitization: Common variants, rare mutations. Current Opinion in Immunology, 36, 115–126. doi:10.1016/j.coi.2015.08.002
  • Carvalho, E., Honjo, R., Magalhães, M., Yamamoto, G., Rocha, K., Naslavsky, M., … Bertola, D. (2015). Schinzel–Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features. American Journal of Medical Genetics Part A, 167(5), 1039–1046. doi:10.1002/ajmg.a.36789
  • Casey, P. H., Lyle, R. E., Bird, T. M., Robbins, J. M., Kuo, D. Z., Brown, C., … Burns, K. (2011). Effect of hospital-based comprehensive care clinic on health costs for Medicaid-insured medically complex children. Archives of Pediatrics & Adolescent Medicine, 165(5), 392–398. doi:10.1001/archpediatrics.2011.5
  • Constantino, J. N., & Gruber, C. P. (2012). Social responsiveness scale, second edition (SRS-2). Los Angeles, CA: Western Psychological Services.
  • Daly, K. A., Brown, W. M., Segade, F., Bowden, D. W., Keats, B. J., Lindgren, B. R., … Rich, S. S. (2004). Chronic and recurrent otitis media: A genome scan for susceptibility loci. The American Journal of Human Genetics, 75(6), 988–997. doi:10.1086/426061
  • Earl, R. K., Turner, T. N., Mefford, H. C., Hudac, C. M., Gerdts, J., Eichler, E. E., & Bernier, R. A. (2017). Clinical phenotype of ASD-associated DYRK1A haploinsufficiency. Molecular Autism, 8(1), 54. doi:10.1186/s13229-017-0173-5
  • Evers, J. M., Laskowski, R. A., Bertolli, M., Clayton-Smith, J., Deshpande, C., Eason, J., … Kingston, H. (2017). Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders. Human Molecular Genetics, 26(3), 519–526. doi:10.1093/hmg/ddw409
  • Feliciano, P., Daniels, A. M., Snyder, L. G., Beaumont, A., Camba, A., Esler, A., … Paolicelli, A. M. (2018). SPARK: A US cohort of 50,000 families to accelerate autism research. Neuron, 97(3), 488–493. doi:10.1016/j.neuron.2018.01.015
  • Fischbach, G. D., & Lord, C. (2010). The Simons simplex collection: A resource for identification of autism genetic risk factors. Neuron, 68(2), 192–195. doi:10.1016/j.neuron.2010.10.006
  • Georgiades, S., Szatmari, P., Boyle, M., Hanna, S., Duku, E., Zwaigenbaum, L., … Smith, I. (2013). Investigating phenotypic heterogeneity in children with autism spectrum disorder: A factor mixture modeling approach. Journal of Child Psychology and Psychiatry, 54(2), 206–215. doi:10.1111/j.1469-7610.2012.02588.x
  • Gordon, J. B., Colby, H. H., Bartelt, T., Jablonski, D., Krauthoefer, M. L., & Havens, P. (2007). A tertiary care–primary care partnership model for medically complex and fragile children and youth with special health care needs. Archives of Pediatrics & Adolescent Medicine, 161(10), 937–944. doi:10.1001/archpedi.161.10.937
  • Hagerman, R. J., Altshul-Stark, D., & McBogg, P. (1987). Recurrent otitis media in the fragile X syndrome. American Journal of Diseases of Children, 141(2), 184–187. doi:10.1001/archpedi.1987.04460020074031
  • Higdon, R., Earl, R. K., Stanberry, L., Hudac, C. M., Montague, E., Stewart, E., … Bernier, R. A. (2015). The promise of multi-omics and clinical data integration to identify and target personalized healthcare approaches in autism spectrum disorders. Omics: a Journal of Integrative Biology, 19(4), 197–208. doi:10.1089/omi.2015.0020
  • Hoffman, I., De Greef, T., Haesendonck, N., & Tack, J. (2010). Esophageal motility in children with suspected gastroesophageal reflux disease. Journal of Pediatric Gastroenterology and Nutrition, 50(6), 601–608. doi:10.1097/MPG.0b013e3181c1f596
  • IBM Corp. (2015). IBM SPSS statistics for windows, version 23.0. Armonk, NY: IBM Corp.
  • Iossifov, I., Ronemus, M., Levy, D., Wang, Z., Hakker, I., Rosenbaum, J., … Kendall, J. (2012). De novo gene disruptions in children on the autistic spectrum. Neuron, 74(2), 285–299. doi:10.1016/j.neuron.2012.04.009
  • Jacob, J. (2016). Cortical interneuron dysfunction in epilepsy associated with autism spectrum disorders. Epilepsia, 57(2), 182–193. doi:10.1111/epi.2016.57.issue-2
  • Kerr, M., Scheepers, M., Arvio, M., Beavis, J., Brandt, C., Brown, S., … Marson, A. G. (2009). Consensus guidelines into the management of epilepsy in adults with an intellectual disability. Journal of Intellectual Disability Research, 53(8), 687–694. doi:10.1111/j.1365-2788.2009.01182.x
  • Kielinen, M., Rantala, H., Timonen, E., Linna, S. L., & Moilanen, I. (2004). Associated medical disorders and disabilities in children with autistic disorder: A population-based study. Autism, 8(1), 49–60. doi:10.1177/1362361304040638
  • Krumm, N., O’Roak, B. J., Shendure, J., & Eichler, E. E. (2014). A de novo convergence of autism genetics and molecular neuroscience. Trends in Neurosciences, 37(2), 95–105. doi:10.1016/j.tins.2013.11.005
  • Luco, S. M., Pohl, D., Sell, E., Wagner, J. D., Dyment, D. A., & Daoud, H. (2016). Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature. BMC Medical Genetics, 17(1), 15. doi:10.1186/s12881-016-0276-4
  • Lyall, K., Van de Water, J., Ashwood, P., & Hertz‐Picciotto, I. (2015). Asthma and allergies in children with autism spectrum disorders: Results from the CHARGE study. Autism Research, 8(5), 567–574. doi:10.1002/aur.1471
  • Masi, A., DeMayo, M. M., Glozier, N., & Guastella, A. J. (2017). An overview of autism spectrum disorder, heterogeneity and treatment options. Neuroscience Bulletin, 33(2), 183–193. doi:10.1007/s12264-017-0100-y
  • Masi, A., Glozier, N., Dale, R., & Guastella, A. J. (2017). The immune system, cytokines, and biomarkers in autism spectrum disorder. Neuroscience Bulletin, 33(2), 194–204. doi:10.1007/s12264-017-0103-8
  • Mayer, E. A., Padua, D., & Tillisch, K. (2014). Altered brain‐gut axis in autism: Comorbidity or causative mechanisms? Bioessays, 36(10), 933–939. doi:10.1002/bies.v36.10
  • McElhanon, B. O., McCracken, C., Karpen, S., & Sharp, W. G. (2014). Gastrointestinal symptoms in autism spectrum disorder: A meta-analysis. Pediatrics, 133(5), 872–883. doi:10.1542/peds.2013-3995
  • Miyazaki, C., Koyama, M., Ota, E., Swa, T., Amiya, R. M., Mlunde, L. B., … Mori, R. (2015). Allergies in children with autism spectrum disorder: A systematic review and meta-analysis. Review Journal of Autism and Developmental Disorders, 2(4), 374–401. doi:10.1007/s40489-015-0059-4
  • Myers, K. A., Johnstone, D. L., & Dyment, D. A. (2019). Epilepsy genetics: Current knowledge, applications, and future directions. Clinical Genetics, 95(1), 95–111. doi:10.1111/cge.2019.95.issue-1
  • Nakashima, M., Tohyama, J., Nakagawa, E., Watanabe, Y., Kwong, C. S., Yamoto, K., … Hata, K. (2019). Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures. Journal of Human Genetics, 64(4), 313. doi:10.1038/s10038-018-0559-z
  • Neumeyer, A. M., Anixt, J., Chan, J., Perrin, J. M., Murray, D., Coury, D. L., … Parker, R. A. (2019). Identifying associations among co-occurring medical conditions in children with autism spectrum disorders. Academic Pediatrics, 19(3), 300–306. doi:10.1016/j.acap.2018.06.014
  • O’Brien, S., Ng-Cordell, E., Astle, D. E., Scerif, G., & Baker, K. (2019). STXBP1-associated neurodevelopmental disorder: A comparative study of behavioural characteristics. Journal of Neurodevelopmental Disorders, 11(1), 1–11. doi:10.1186/s11689-019-9278-9
  • O’Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., … Turner, E. H. (2012). Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature, 485(7397), 246. doi:10.1038/nature10989
  • Owen, C. I., Bowden, R., Parker, M. J., Patterson, J., Patterson, J., Price, S., … Tatton-Brown, K. (2018). Extending the phenotype associated with the CSNK2A1‐related Okur–Chung syndrome—A clinical study of 11 individuals. American Journal of Medical Genetics Part A, 176(5), 1108–1114. doi:10.1002/ajmg.a.38610
  • Ramaswami, G., & Geschwind, D. H. (2018). Genetics of autism spectrum disorder. In D. H. Geschwind, H. L. Paulson, & C. Klein (Eds.), Handbook of clinical neurology (Vol. 147, pp. 321–329). Amsterdam, Netherlands: Elsevier.
  • Raveau, M., Shimohata, A., Amano, K., Miyamoto, H., & Yamakawa, K. (2018). DYRK1A-haploinsufficiency in mice causes autistic-like features and febrile seizures. Neurobiology of Disease, 110, 180–191. doi:10.1016/j.nbd.2017.12.003
  • Roche, A. F., Mukherjee, D., Guo, S., & Moore, W. M. (1987). Head circumference reference data: Birth to 18 years. Pediatrics, 79(5), 706–712.
  • Rye, M. S., Blackwell, J. M., & Jamieson, S. E. (2012). Genetic susceptibility to otitis media in childhood. The Laryngoscope, 122(3), 665–675. doi:10.1002/lary.v122.3
  • Sanders, S. J., Campbell, A. J., Cottrell, J. R., Moller, R. S., Wagner, F. F., Auldridge, A. L., … George, A. L., Jr. (2018). Progress in understanding and treating SCN2A-mediated disorders. Trends in Neurosciences, 41(7), 442–456. doi:10.1016/j.tins.2018.03.011
  • Sanders, S. J., He, X., Willsey, A. J., Ercan-Sencicek, A. G., Samocha, K. E., Cicek, A. E., … Goldberg, A. P. (2015). Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci. Neuron, 87(6), 1215–1233. doi:10.1016/j.neuron.2015.09.016
  • Schuurs‐Hoeijmakers, J. H., Landsverk, M. L., Foulds, N., Kukolich, M. K., Gavrilova, R. H., Greville‐Heygate, S., … Burrow, T. A. (2016). Clinical delineation of the PACS1‐related syndrome—Report on 19 patients. American Journal of Medical Genetics Part A, 170(3), 670–675. doi:10.1002/ajmg.a.37476
  • Shahidullah, J. D., Azad, G., Mezher, K. R., McClain, M. B., & McIntyre, L. L. (2018). Linking the medical and educational home to support children with autism spectrum disorder: Practice recommendations. Clinical Pediatrics, 57(13), 1496–1505. doi:10.1177/0009922818774344
  • Shang, L., Henderson, L. B., Cho, M. T., Petrey, D. S., Fong, C. T., Haude, K. M., … Innis, J. (2016). De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism. Neurogenetics, 17(1), 43–49. doi:10.1007/s10048-015-0466-9
  • Simons VIP Consortium. (2012). Simons variation in individuals project (Simons VIP): A genetics-first approach to studying autism spectrum and related neurodevelopmental disorders. Neuron, 73(6), 1063–1067. doi:10.1016/j.neuron.2012.02.014
  • Siper, P. M., De Rubeis, S., Del Pilar Trelles, M., Durkin, A., Di Marino, D., Muratet, F., … Buxbaum, J. D. (2017). Prospective investigation of FOXP1 syndrome. Molecular Autism, 8(1), 57. doi:10.1186/s13229-017-0172-6
  • Sparks, B., Cooper, J., Hayes, C., & Williams, K. (2018). Constipation in children with autism spectrum disorder associated with increased emergency department visits and inpatient admissions. The Journal of Pediatrics, 202, 194–198. doi:10.1016/j.jpeds.2018.05.004
  • Sparrow, S. S., Balla, D. A., & Cicchetti, D. V. (2005). Vineland II: Vineland adaptive behavior scales. Circle Pines, MN: American Guidance Service.
  • Srivastava, S., Love-Nichols, J. A., Dies, K. A., Ledbetter, D. H., Martin, C. L., Chung, W. K., … Brunner, H. (2019). Meta-analysis and multidisciplinary consensus statement: Exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genetics in Medicine, 21(11), 2413–2421. Advance online publication. doi:10.1038/s41436-019-0554-6
  • Stamberger, H., Nikanorova, M., Willemsen, M. H., Accorsi, P., Angriman, M., Baier, H., … Cantalupo, G. (2016). STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. Neurology, 86(10), 954–962. doi:10.1212/WNL.0000000000002457
  • Steinke, J. W., Rich, S. S., & Borish, L. (2008). 5. Genetics of allergic disease. Journal of Allergy and Clinical Immunology, 121(2), S384–S387. doi:10.1016/j.jaci.2007.07.029
  • Stessman, H. A., Bernier, R., & Eichler, E. E. (2014). A genotype-first approach to defining the subtypes of a complex disease. Cell, 156(5), 872–877. doi:10.1016/j.cell.2014.02.002
  • Stessman, H. A., Xiong, B., Coe, B. P., Wang, T., Hoekzema, K., Fenckova, M., … Vives, L. (2017). Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. Nature Genetics, 49(4), 515. doi:10.1038/ng.3792
  • Sullivan, P. B. (2008). Gastrointestinal disorders in children with neurodevelopmental disabilities. Developmental Disabilities Research Reviews, 14(2), 128–136. doi:10.1002/()1940-5529
  • Tanaka, A. J., Cho, M. T., Retterer, K., Jones, J. R., Nowak, C., Douglas, J., … Rahman, O. A. (2016). De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features. Molecular Case Studies, 2(1), a000661. doi:10.1101/mcs.a000661
  • Tørring, P. M., Larsen, M. J., Brasch-Andersen, C., Krogh, L. N., Kibæk, M., Laulund, L., … Marangi, G. (2019). Is MED13L-related intellectual disability a recognizable syndrome? European Journal of Medical Genetics, 62(2), 129–136. doi:10.1016/j.ejmg.2018.06.014
  • Tse, P. W. T., Leung, S. S. F., Chan, T., Sien, A., & Chan, A. K. H. (2000). Dietary fibre intake and constipation in children with severe developmental disabilities. Journal of Paediatrics and Child Health, 36(3), 236–239. doi:10.1046/j.1440-1754.2000.00498.x
  • Tye, C., Runicles, A. K., Whitehouse, A. J., & Alvares, G. A. (2018). Characterizing the interplay between autism spectrum disorder and comorbid medical conditions: An integrative review. Frontiers in Psychiatry, 9, 751. doi:10.3389/fpsyt.2018.00751
  • Van der Sluijs, P. J., Jansen, S., Vergano, S. A., Adachi-Fukuda, M., Alanay, Y., AlKindy, A., … Bijlsma, E. K. (2019). The ARID1B spectrum in 143 patients: From nonsyndromic intellectual disability to Coffin–Siris syndrome. Genetics in Medicine, 21(6), 1295. doi:10.1038/s41436-018-0330-z
  • Van Dijck, A., Vulto-van Silfhout, A. T., Cappuyns, E., van der Werf, I. M., Mancini, G. M., Tzschach, A., … Lindstrand, A. (2019). Clinical presentation of a complex neurodevelopmental disorder caused by mutations in. ADNP. Biological Psychiatry, 85(4), 287–297. doi:10.1016/j.biopsych.2018.02.1173
  • Vargason, T., Frye, R. E., McGuinness, D. L., & Hahn, J. (2019). Clustering of co‐occurring conditions in autism spectrum disorder during early childhood: A retrospective analysis of medical claims data. Autism Research, 12, 1272–1285. doi:10.1002/aur.2128
  • Vlaskamp, D. R., Shaw, B. J., Burgess, R., Mei, D., Montomoli, M., Xie, H., … Maas, S. M. (2019). SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy. Neurology, 92(2), e96–e107. doi:10.1212/WNL.0000000000006729
  • Xu, G., Snetselaar, L. G., Jing, J., Liu, B., Strathearn, L., & Bao, W. (2018). Association of food allergy and other allergic conditions with autism spectrum disorder in children. JAMA Network Open, 1(2), e180279–e180279. doi:10.1001/jamanetworkopen.2018.0279
  • Zeisel, S. A., & Roberts, J. E. (2003). Otitis media in young children with disabilities. Infants & Young Children, 16(2), 106–119. doi:10.1097/00001163-200304000-00004

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.