Spinal Muscular Atrophy and School Transitions

Neuromuscular diseases (NMDs) are a group of rare heterogeneous conditions which primarily affect the peripheral nervous system and skeletal muscle. Neuromuscular diseases are frequently progressive in nature and lead to increasing muscle weakness and systemic complications. Through advances in diagnosis and multidisciplinary clinical care there have been significant improvements in life expectancy and opportunities to have a fulling life. It is therefore imperative that transition, at all stages of a patient's journey, are supported and provide best opportunities.

It has been recognised for over 10 years that transition from paediatric to adult medical care has been fraught with issues and preparations for transition are often delayed until such time as the patient reaches or nears adult age or ignores completely. This has consequences for poorer outcomes in health and quality of life. Models do exist, but they lack depth and focus on the medical model, and so fault address all the criteria involved in a successful transition. Therefore, the period of transition from paediatric to adult healthcare is a time of uncertainty and stress for those with rare diseases. Both young adults and their parents/carers encounter a wide range of obstacles during the transition period, including poor understanding of the process, difficulty accessing appropriate support, expectations regarding future care and educational or work opportunities. During this transition period factors which exacerbate the stresses encountered are numerous, such as disease specific challenges and a lack of expertise amongst adult health care professionals, and wider care or education providers.

Transition is not merely an administrative process but a time that requires careful targeted multidisciplinary care to ensure that all the needs of a young person with NMDs are met. This not only should include medical transition but also psychological and social requirements. It is suggested that transition should start in young adolescence to prepare both patients and their families for changes in healthcare providers and introduce new teams and roles. Transition should be carefully planned with a patient family centred approach. Poor or inadequately planned transitions could cause negative outcomes related to prognosis of disease, mortality, psychosocial and educational attainment. Blum et al (1993) defines transition as 'the purposeful movement of adolescents with chronic physical and medical conditions from child-centred care to adult oriented healthcare systems'. However, Blum's definition is reductionist in nature and only addresses the health component; transition is better defined as 'the passage from one phase of a person's life, physical condition or social role to another'. And as such this could include transitions from ambulant to non-ambulant, requirement of overnight ventilation, sexual health and puberty, loss of social contacts, social inclusion, and all forms of transitions moving through the education system.

As is evident from the literature available on transition in those with NMD it is primarily focused on the medical transition. Most, if not all the literature suggests that transition starts in young adolescence and introduces the process of moving from paediatric healthcare to adult services.

The transition of those with NMDs when focused on healthcare does not address many areas of the transition that are important to ensure all opportunities are met. One unmet period of transition is that of moving from primary school to senior school, a time of great uncertainty and stress for both the patient and the parents/carers. The United Nations fourth sustainable global development goal is to ensure inclusive and equitable education and promote lifelong learning opportunities for all by 2030. However, those entering upper secondary education is at 86% for the non-disabled and only 66% for those with a disability or psychiatric diagnosis. In addition, those with NMDs are generally absent from school more often when compared to those without, the reasons being general poorer health, greater incidence of anxiety/depression, lack of learning opportunities, poor supportive infrastructure and insufficient compensatory education. It follows that to ensure all young persons with NMDs have access to education to better their quality of life and independence. The risk of not providing or having less than optimal access to education or absence due to appointments or ill health is a strong predictor of how well they will fair in life with regard to health, income, independence, employment, social inclusion and working life conditions.

The United Nations Convention on the Rights of Persons with Disabilities (CRPD) was adopted on 13th December 2006. There are 82 signatories to the Convention, 44 signatories to the Optional Protocol and 1 ratification of the protocol. The Convention has the goal of changing attitudes and approaches to people with disabilities. As part of the CRPS education was seen as an imperative and as such a whole section was devoted to this: Article 24 (see appendix 1 for full details). Article 24 of the CRPD lays out the basic and fundamental rights a disabled person has to a fair and non-discriminatory education with an emphasis on the States Parties to recognise and act so that all are given fair and equal opportunities.

The United Kingdom Government has a Disability Rights Act 2010. Included within that law is the right that protects the disabled from discrimination and provides legal rights including for education, free from direct or indirect discrimination, discrimination arising from disability, harassment, and victimisation. Schools have duty to provide 'reasonable adjustments' to ensure disable students are not discriminated against, however schools are 'not subject to the reasonable adjustment duty to make alterations to physical features, like adding ramps. They must make the buildings accessible for their disabled pupils as part of their overall planning duties'. Conversely, access to education for those with NMDs is not optimal and the transitions from primary school to and during the education journey are fraught with difficulties and barriers.

All NMDs should be approached as unique in their own right when considering transition and approached from a multidisciplinary perspective. The Spinal Muscular Atrophies (SMAs) are one such NMD that is a progressive neurodegenerative condition characterised by a significant and complex disease trajectory. The primary presentation is that of symmetrical proximal muscle weakness and atrophy, with associated loss of function. SMA presents with a broad spectrum of disease severity with classification based on age of onset and motor milestones achieved. SMA type I is the most common subtype, with approximately 42 babies being born each year in the United Kingdom with SMA type I, being symptomatic before age 6 months. Those affected do not achieve independent sitting, although prognosis is now much improved following the introduction of three disease modifying therapies. Those with type II SMA typically develop weakness between ages 6 to 18 months and can sit independently in early years. As the disease progresses the need for respiratory support and orthopaedic presentations, such as scoliosis and hip dysplasia, increase. SMA type III present with symptoms post 18 months and attain independent ambulation, however this may be lost as the disease progresses.

The CI is a member of the direct care team who treats this patient population. He would like to hold an initial focus group with 3 patients and their families to provide a consensus on the developing questionnaire, which will then be sent out to a further 9 patients and their families.

Inclusion criteria

• Genetically confirmed diagnosis of Spinal Muscular Atrophy 1, 11 or 111
• In education, in either primary school, secondary school or further education
• Access to internet and either a smart phone, tablet or computer.

Exclusion criteria

• Not in education
• Not able to comply with the consent process
• Not cognitively able to complete the questionnaire.