New research
Shortened Telomeres in Families With a Propensity to Autism

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Objective

Shortened telomeres have been linked to poorer health outcomes. Exposure to psychological stress is associated with accelerated telomere shortening, and a well-established body of evidence indicates that families with a child with autism spectrum disorder (ASD) experience heightened levels of psychological stress. Also, alterations in a number of biological processes implicated in telomere length dynamics (i.e., oxidative stress, DNA methylation) have been linked to ASD susceptibility. We examined whether families of children with ASD who have an infant show shortened telomeres.

Method

Saliva samples were collected from infants, their older sibling (proband), and parents in families with or without a child with ASD. Infants and their families were designated as high-risk for ASD (HRA; n = 86) or low-risk for ASD (LRA; n = 118) according to the older siblings’ diagnostic status. We used the real-time polymerase chain reaction (PCR) telomere assay to determine relative average telomere length for each participant.

Results

HRA families demonstrated significantly shorter telomere length relative to LRA families. This effect was observed at the individual family member level, with infants, probands, and mothers in HRA families showing reduced relative telomere length compared to individuals in LRA families; although not significant, fathers of high-risk infants showed a similar pattern of decreased telomere length.

Conclusion

Families of children with ASD who have an infant show shortened telomeres relative to families with no history of ASD. These results suggest that such “high-risk” families should be monitored for the physical and mental health consequences that are often associated with accelerated telomere shortening.

Section snippets

Study Design

Participants in the current study formed part of an ongoing, longitudinal investigation of neurodevelopment in infant siblings of children with ASD over the first 3 years of life. Infants and their families were designated as high-risk for ASD (HRA) or low-risk for ASD (LRA) according to their older siblings’ (proband) diagnostic status. For HRA families, infants had at least 1 older sibling with a community diagnosis of ASD that was not attributable to a known genetic disorder (e.g., Fragile

Demographic Variables and Telomere Length

There were no significant age differences between HRA (median = 114.50 months) and LRA groups (median = 92.50 months), U = 4.241, z = 0.17, p = .866, collapsed across all family members. Similarly, at the family member level, there were no group differences in age between infant siblings (U = 395.00, z = 0.39, p = .696), probands (U = 257.00, z = −0.46, p = .648), mothers (U = 276.00, z = 0.44, p = .663) or fathers (U = 157.00, z = −0.02, p > .999). Consistent with prior research demonstrating

Discussion

Overall, we found that in families with 1 child with autism and a younger sibling, the mother, infant, and affected sibling all showed shortened telomeres relative to families with no history of the disorder (fathers showed a nonsignificant trend in the same direction as other family members). These findings extend prior research demonstrating shorter telomere length in caregivers of children with a chronic illness,14 and children with ASD8 to suggest that infants at high risk for ASD also have

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    This article is discussed in an editorial by Dr. Stacy S. Drury on page 539.

    Support for this work was provided by the National Institutes of Health (NIH; 1R01DC010290 to H.T.-F. and C.A.N.), the Simons Foundation (grant# 137186 to C.A.N.), the Philanthropic Council of the Division of Developmental Medicine, Boston Children’s Hospital (to C.A.N.), an anonymous foundation (to C.A.N.), and the NIH to De Vivo (R01 CA082838 and PO1CA006516).

    Disclosure: Drs. Nelson, Varcin, DeVivo, Tager-Flusberg, and Ms. Coman report no biomedical financial interests or potential conflicts of interest.

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