Purpose of Review
Consanguinity can increase the risk for autosomal recessive conditions, along with autism spectrum disorder (ASD). Rarely outside of the genetics community is this discussed. Understanding its impact on the development of ASD and increasing awareness for physicians is important.
ASD is a polygenic multifactorial disorder associated with morbidity and burden of care. Studies have confirmed its heritability, suspecting to an autosomal recessive transmission. Consanguinity increases the risk for uncovering recessive disorder and its role as an independent contributor for the development of ASD should be examined.
With consanguinity being a known risk factor for autosomal recessive conditions, clinicians should routinely screen for it when evaluating for ASD, as this is inconsistently done. If suspected, genetic testing should be also recommended. Understanding current risk as well as future risk and providing families with the education to make the most informed decisions is necessary.
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Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance
Baird PA, McGillivray B. Children of incest. J Pediatr. 1982;101(5):854–7.
Belhadj A, Mrad R, Halayem MB. A clinic and a paraclinic study of Tunisian population of children with autism. About 63 cases. Tunis Med. 2006;84(12):763–7.
•• Bennett RL, et al. Inconsistencies in genetic counseling and screening for consanguineous couples and their offspring: the need for practice guidelines. Genet Med. 1999;1(6):286. Provides good explanations for the shortcomings when it comes to treating and evaluating a consanguineous couple.
• Bennett RL, et al. Genetic counseling and screening of consanguineous couples and their offspring: recommendations of the National Society of Genetic Counselors. J Genet Couns. 2002;11(2):97–119. Provide valuable information on guidelines and recommendations that can be extrapolated and be useful for all physicians to follow.
Bennett RL. The practical guide to the genetic family history. Hoboken: John Wiley & Sons; 2011.
Bishop M, Metcalfe S, Gaff C. The missing element: consanguinity as a component of genetic risk assessment. Genet Med. 2008;10(8):612–20.
• Bittles AH. Consanguinity and its relevance to clinical genetics. Clin Genet. 2001;60(2):89–98. Sets the foundation for understanding the concepts of consanguinity and its role in complex diseases. Bittles is an expert on the topic of consanguinity.
Bittles AH. A background summary of consanguineous marriage. Center for Human Genetics. Perth: Edith Cowan University; 2001.
Bittles AH, Black ML. Consanguinity, human evolution, and complex diseases. Proc Natl Acad Sci. 2010;107(suppl 1):1779–86.
Calderón R, Aresti U, Ambrosio B, González-Martín A. Inbreeding coefficients for X-linked and autosomal genes in consanguineous marriages in Spanish populations: the case of Guipúzcoa (Basque Country). Ann Hum Genet. 2009;73(2):184–95.
Chahrour MH, et al. Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. PLoS Genet. 2012;8(4):e1002635.
Chaste P, Leboyer M. Autism risk factors: genes, environment, and gene-environment interactions. Dialogues Clin Neurosci. 2012;14(3):281–92.
Chung BH-Y, Tao VQ, Tso WW-Y. Copy number variation and autism: new insights and clinical implications. J Formos Med Assoc. 2014;113(7):400–8.
Ellison JW, Ravnan JB, Rosenfeld JA, Morton SA, Neill NJ, Williams MS, et al. Clinical utility of chromosomal microarray analysis. Pediatrics. 2012;130(5):e1085–95.
Fan Y, Du X, Liu X, Wang L, Li F, Yu Y. Rare copy number variations in a Chinese cohort of autism spectrum disorder. Front Genet. 2018;9:665.
Fareed M, et al. Impact of consanguineous marriages and degrees of inbreeding on fertility, child mortality, secondary sex ratio, selection intensity, and genetic load: a cross-sectional study from Northern India. Pediatr Res. 2017;81(1–1):18.
Geschwind DH. Autism: family connections. Nature. 2008;454(7206):838.
Guney E, Iseri E. Genetic and environmental factors in autism. In: Recent advances in autism spectrum disorders-volume I. IntechOpen; 2013. https://doi.org/10.5772/53295.
Guisso DR, et al. Association of autism with maternal infections, perinatal and other risk factors: a case-control study. J Autism Dev Disord. 2018;48(6):2010–21.
HALL JUDITHG. Children of incest: when to suspect and how to evaluate? Am J Dis Child. 1978;132(10):1045.
Hamamy H. Consanguineous marriages. J Community Genet. 2012;3(3):185–92.
Hamamy H, et al. Consanguineous marriages, pearls and perils: Geneva international consanguinity workshop report. Genet Med. 2011;13(9):841.
•• Hamamy H. Consanguineous marriage in the Middle East: trends, impact on reproductive health and research priorities. Clin Genet. 2005;67(6):511–6. Like Bittles, Hamamy is an expert in the field of consanguinity. He too set the ground work of understanding consanguinity and establishing worldwide prevalence rates.
Hussain R. Community perceptions of reasons for preference for consanguineous marriages in Pakistan. J Biosoc Sci. 1999;31(4):449–61.
Kiykim E, Zeybek CA, Zubarioglu T, Cansever S, Yalcinkaya C, Soyucen E, et al. Inherited metabolic disorders in T urkish patients with autism spectrum disorders. Autism Res. 2016;9(2):217–23.
Lichtenstein P, Carlström E, Råstam M, Gillberg C, Anckarsäter H. The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood. Am J Psychiatr. 2010;167(11):1357–63.
López, Gustavo, et al. Key findings about U.S. immigrants. Pew Research Center, Pew Research Center. 2018. www.pewresearch.org/fact-tank/2018/11/30/key-findings-about-u-s-immigrants/.
•• Mamidala MP, et al. Consanguinity in India and its association with autism spectrum disorder. Autism Res. 2015;8(2):224–8. The only head to head clinical trial of a comparison of consanguineous couples vs non-consanguineous couples, looking directly at the outcome of development of ASD or not. This paper found there was a direct association.
Modell B, Darr A. Genetic counselling and customary consanguineous marriage. Nat Rev Genet. 2002;3(3):225–9.
Modern immigration wave brings 59 million to U.S. Pew Research Center’s Hispanic Trends Project, Pew Research Center’s Hispanic Trends Project. 2018. www.pewhispanic.org/2015/09/28/modern-immigration-wave-brings-59-million-to-u-s-driving-population-growth-and-change-through-2065/.
Morrow EM, Yoo SY, Flavell SW, Kim TK, Lin Y, Hill RS, et al. Identifying autism loci and genes by tracing recent shared ancestry. Science. 2008;321(5886):218–23.
Nazeer A, Ghaziuddin M. Autism spectrum disorders: clinical features and diagnosis. Pediatr Clin N Am. 2012;59(1):19–25.
Nouri N, Nouri N, Tirgar S, Soleimani E, Yazdani V, Zahedi F, et al. Consanguineous marriages in the genetic counseling centers of Isfahan and the ethical issues of clinical consultations. J Med Ethics Hist Med. 2017;10:12.
Plumer, Brad. How the geography of U.S. immigration has changed over time. The Washington Post, WP Company. 2013. www.washingtonpost.com/news/wonk/wp/2013/05/17/how-the-geography-of-u-s-immigration-has-changed-over-time/?utm_term=.3e1f2e3ed31c.
Ritvo ER, et al. The UCLA-University of Utah epidemiological survey of autism: recurrence risk estimates and genetic counseling. Am J Psychiatry. 1989;146(8):1032.
Sandin S, Lichtenstein P, Kuja-Halkola R, Hultman C, Larsson H, Reichenberg A. The heritability of autism spectrum disorder. Jama. 2017;318(12):1182–4.
Shawky RM, Elsayed SM, Zaki ME, Nour El-Din SM, Kamal FM. Consanguinity and its relevance to clinical genetics. Egypt J Med Hum Genet. 2013;14(2):157–64.
Summary of Autism Spectrum Disorder (ASD) Prevalence Studies. Center for Disease Control, CDC. www.cdc.gov/ncbddd/autism/documents/ASDPrevalenceDataTable2016.pdf.
•• Teeuw ME, et al. Consanguineous marriage and reproductive risk: attitudes and understanding of ethnic groups practising consanguinity in Western society. Eur J Hum Genet. 2014;22(4):452. One of few available papers focusing on beliefs and views on consanguinity in the Western world.
Thapar A, Cooper M. Copy number variation: what is it and what has it told us about child psychiatric disorders? J Am Acad Child Adolesc Psychiatry. 2013;52(8):772–4.
Timothy WY, et al. Using whole-exome sequencing to identify inherited causes of autism. Neuron. 2013;77(2):259–73.
“What are whole exome sequencing and whole genome sequencing? - Genetics Home Reference - NIH.” U.S. National Library of Medicine, National Institutes of Health. ghr.nlm.nih.gov/primer/testing/sequencing.
Fact Sheet: U. S Refugee Resettlement. (n.d.). Retrieved from https://immigrationforum.org/article/fact-sheet-u-s-refugee-resettlement/.
Institute of Canine Biology. Retrieved from https://www.instituteofcaninebiology.org/blog/coi-faqs-understanding-the-coefficient-of-inbreeding.
The editors would like to thank Dr. Kamalika Roy for taking the time to review this manuscript.
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This article is part of the Topical Collection on Complex Medical-Psychiatric Issues
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Roy, N., Ghaziuddin, M. & Mohiuddin, S. Consanguinity and Autism. Curr Psychiatry Rep 22, 3 (2020). https://doi.org/10.1007/s11920-019-1124-y
- Autism spectrum disorder
- Homozygous mapping
- Genetic counseling