My niece, Imojen, was diagnosed with autism and moderate learning disability a few years ago. She is in a wonderful school that she loves, and has received timely, sensitive and effective care from NHS Speech and Language Therapists, Occupational Therapists and Paediatricians. It’s hard to say how much of this support is based on the latest research and how much is accounted for by warm-hearted people with a passion for caring for others, but nevertheless I’m continually grateful that she’s one of the lucky ones.

When I was studying for my undergraduate psychology degree in 2010, Professor Chris Oliver, who would later become my PhD supervisor, showed his students a shocking image of a boy in a hospital ward who had been tied to a pillar in an effort to contain his head-banging. The image was from ‘The Silent Minority’, a documentary aired in 1981. At the time I thought that this type of treatment was confined firmly to the history books, given how far we had come in our understanding of learning disabilities. Then one year later, in 2011, the neglect and ill-treatment of people with severe learning disabilities residing at Winterbourne View care home was uncovered.[1] The gap between evidence and practice is one that still needs focussed effort to be overcome, and is today being pursued within the Integrated Care in Youth Mental Health theme in ARC West Midlands.

People with learning disabilities have higher physical and mental health needs but these needs can often go unmet. This results in poorer health than those without a learning disability. Compared to the general population, people with learning disabilities have shorter life expectancy and increased risk of early death, as well as heightened rates of coronary heart disease, gastrointestinal cancer, respiratory disease, psychiatric disorders, behaviours that challenge, dementia, epilepsy, …and so the list of potentially avoidable or treatable health concerns goes on.[2] Annual health checks, which were introduced to provide timely identification of unmet physical and mental health needs, have an uptake rate of less than 50%. At ARC West Midlands, we are focussing research efforts on improving the quality and uptake of annual health checks through an integrated care model with primary care, secondary care, and education services.

People with rare genetic syndromes associated with learning disability are at even higher risk of certain health conditions. For example, clinical levels of anxiety occur in 83% of people with fragile X syndrome,[3] self-injurious behaviour occurs in 100% of people with Lesch-Nyhan syndrome,[4] and congenital heart defects occur in 50% of people with Down’s syndrome.[5] Yet many rare genetic syndromes go unheard of even within healthcare settings, which is distressing for families seeking support. Raising awareness is crucial for the 3 million people in England living with a rare disease,[6] but it is a challenge. A press officer recently told me that there would be no media interest in rare genetic syndromes until a celebrity has a child that receives a diagnosis. To date, my research has focussed on understanding autism and anxiety in rare genetic syndromes through describing behaviours, changes with age, causes and predictors. Joining the ARC West Midlands offers an exciting opportunity to continue this research and progress towards raising awareness in healthcare settings and translating evidence into practice, without the assistance of media or celebrity endorsement.

Hayley Crawford, Assistant Professor (Integrated Care in Youth Mental Health theme)

References:

1. NHS Website. Winterbourne View failures lead to care system review. 11 December 2012.
2. Emerson E, Baines S. Health inequalities and people with learning disabilities in the UK. Tizard Learning Disability Review. 2011; 16(1): 42-8.
3. Cordeiro L, Ballinger E, Hagerman R, Hessl D. Clinical assessment of DSM-IV anxiety disorders in fragile X syndrome: prevalence and characterization. J Neurodev Disord. 2011; 3(1), 57-67.
4. Christie R, Bay C, Kaufman IA, Bakay B, Borden M, Nyhan WL. Lesch-Nyhan Disease: clinical experience with nineteen patients. Dev Med Child Neurol. 1982; 24: 293-306.
5. Freeman SB, Taft LF, Dooley KJ, et al. Population-based study of congenital heart defects in Down syndrome. Am J Med Genet. 1998; 80(3): 213-7.
6. Department of Health. 2009 Annual Report of the Chief Medical Officer. London: Department of Health; 2010.