Autism spectrum disorders in boys at a major UK hemophilia center: prevalence and risk factors

Melanie Bladen; Nicola Thorpe; Deborah Ridout; Alpha Barrie; Emma McGibbon; Abigail Mance; Lucy Watson; Eleanor Main

doi:10.1016/j.rpth.2022.100013

Autism spectrum disorders in boys at a major UK hemophilia center: prevalence and risk factors

Res Pract Thromb Haemost. 2022 Dec 13;7(1):100013. doi: 10.1016/j.rpth.2022.100013. eCollection 2023 Jan.

Authors

Melanie Bladen^{1

2}, Nicola Thorpe¹, Deborah Ridout², Alpha Barrie¹, Emma McGibbon¹, Abigail Mance¹, Lucy Watson³, Eleanor Main²

Affiliations

¹ Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
² UCL Great Ormond Street Institute of Child Health, London, UK.
³ University of Surrey, London, UK.

Abstract

Background: Autism spectrum disorders (ASDs) are diagnosed by social communication difficulties strong, narrow interests, and repetitive stereotyped behavior. An apparently-elevated prevalence of ASD at a major UK hemophilia center warranted investigation.

Objectives: To screen boys with hemophilia for difficulties in social communication and executive function and identify the prevalence and risk factors for ASD.

Methods: Parents of boys with hemophilia aged 5 to 16 years completed the Social Communication Questionnaire, Children's Communication Checklist, and the Behavior Rating Inventory of executive function. Prevalence and potential risk factors for ASD were evaluated. Boys with an existing diagnosis of ASD did not complete questionnaires, but were included in the prevalence analysis.

Results: Negative scores on all 3 questionnaires were observed for 60 of 79 boys. Positive scores on 1, 2, and 3 questionnaires were seen in 12 of 79, 3 of 79, and 4 of 79 boys, respectively. In addition to the 11 of 214 boys with a prior ASD diagnosis, 3 further boys were diagnosed with ASD, yielding a prevalence of 14 (6.5%) of 214, greater than that of boys in the UK general population. Premature birth was linked to having ASD, but did not fully explain the increased prevalence with more boys born <37 weeks scoring positively on the Social Communications Questionnaire and Children's Communication Checklist compared with those born at term.

Conclusion: This study identified an increased prevalence of ASD at 1 UK hemophilia center. Prematurity was identified as a risk factor but did not fully explain the higher prevalence of ASD. Further investigation in the wider national/global hemophilia communities is warranted to determine whether this is an isolated finding.

Keywords: autism spectrum disorder; child; communication; executive function; hemophilia A.