Hidden Markov Models to Estimate the Probability of Having Autistic Children

Emerson A Carvalho,Igor D Rodrigues,Guilherme Sousa Bastos,Lucelmo Lacerda,Caio P Santana

doi:10.1109/access.2020.2997334

Abstract

Genetic factors have been pointed out as the primary root associated with the risk of autism. Recent works indicate that approximately 80% of autistic people have inherited the condition from their parents. However, there are no estimates that indicate the likelihood of an autistic parent having an autistic child. Using Hidden Markov Models, together with the data of autism heritability, we developed a model to investigate the likelihood of autistic parents generating autistic children. Hidden Markov Models are a double-layered stochastic process, and it consists of a nonvisible stochastic process (not observable) that can be predicted through a visible one. Our model was built and validated using statistical data from the association of gender with recurrence of autism among siblings, as well as statistical data from the association of genetic factors with autism. Our results suggest that autistic parents may generate autistic children with probabilities of ≈ 33% for female children and ≈ 80% for male children. Such estimates could assist parents in some decision making processes according to the estimated risk of autism in their descendants.

Highlights

Composed by the Greek words ‘‘autos’’ and ‘‘ismos’’, the term ‘‘autism’’ was used for the first time by Kanner et al [1] to describe children with an ‘‘extreme inability to relate to others’’
The key findings of this study are shown on the graph displayed in Figure 3, which summarizes the probabilities of Typical Development (TD)/Autism Spectrum Disorder (ASD) parents generating TD/ASD children
Using our Hidden Markov Model (HMM) models, we estimated that ASD parents could generate ASD children with probabilities of ≈ 33% for girls and ≈ 80% for boys

Summary

Introduction

Composed by the Greek words ‘‘autos’’ (self) and ‘‘ismos’’ (action), the term ‘‘autism’’ was used for the first time by Kanner et al [1] to describe children with an ‘‘extreme inability to relate to others’’. Autism Spectrum Disorder (ASD) is an age- and sex-related lifelong neurodevelopmental disorder characterized primarily by persistent deficits in core domains as social communication across multiple contexts, in addition to restricted and repetitive patterns of behavior, interests, or activities. These symptoms are mainly manifested in the early developmental period and limit or impair children’s everyday lives. This disorder has a wide range of severity. With borders that overlap normality on the one hand and profound intellectual impairment caused by brain malfunctions on the other hand [2]–[4].

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Conclusion