Is There a Higher Prevalence of Autistic Spectrum Disorder (ASD) in Children With Haemophilia (Aged 5-16) Than the General Population?

Background Haemophilia A and B are inherited disorders characterised by spontaneous bleeding. The current treatment is replacement of the deficient factor VIII (FVIII) or factor IX (FIX). Haemophilia occurs in 1:50000 male births and approximately 85% have haemophilia A and approx 15% haemophilia B. Children with haemophilia can be described as having severe, moderate or mild disease dependent on their circulating levels of FVIII or FIX. Children with severe haemophilia are classified as having <1%, moderate 1-5% and mild >5-40%. One third of all children diagnosed with haemophilia have no family history of the bleeding disorder. 80% of bleeding episodes occur in the joints. A bleed into the cranial cavity although rare is called an intracranial haemorrhage (ICH) and outcome can range from neurological impairment (behavioural difficulties) to death (1-2). Bladen et al. 2009 identified behavioural difficulties in a cohort of children at Great Ormond St Hospital for Children NHS Trust with haemophilia following intracranial haemorrhage (3).

Haemophilia and communication difficulties A recent study has highlighted that boys with haemophilia risk attention deficit / hyperactivity disorder (ADHD) spectrum difficulties especially hyperactivity impulsivity (HI) and special education participation (4). No papers could be found detailing a relationship or prevalence of autistic spectrum disorder and haemophilia.

Since the Bladen et al. 2009 publication there has been an increased awareness and diagnosis of boys with autistic spectrum disorder (ASD) at Great Ormond St Hospital for Children NHS Trust haemophilia centre. These problems have required the children to gain statements of special education need in order that they can maximise their educational potential. Children with ASD can also present with motor co-ordination difficulties that increase their risk of falls. This tendency to lack control of their movement may increase bleeding frequency in boys with haemophilia placing them at further risk. It is essential that these boys are screened and identified early so that the necessary additional these children require is attained.

Current literature states that ASD affects approximately 1% of the general population (5-6). Autism-spectrum disorders are diagnosed by the presence of social and communication difficulties, alongside unusually strong, narrow interests and/or repetitive and stereotyped behaviour (7). Language delay and difficulties in cognitive ability are common in children and may extend into below-average range intellectual disabilities. For clinical purposes diagnosis is set at the level where autistic traits are significantly interfering in daily life functioning; currently, there is no biological marker and the diagnosis is established on a basis of a comprehensive assessment of children's behavioural characteristics.

Aim of the study The aim of this study is to use questionnaires to be completed by parents and teachers to screen and assess for difficulties in social interactions, executive functioning, communication and behaviour in boys with haemophilia aged 5-16 .