Syndromes: Batten disease

A look at Batten disease, a collection of rare and fatal inherited disorders of the nervous system

A look at Batten disease, a collection of rare and fatal inherited disorders of the nervous system

A woman embraces her five year old son, who has been diagnosed with Batten disease
A woman embraces her five-year-old son, who has been diagnosed with Batten disease
Picture: Getty Images

The term Batten disease includes a collection of rare and fatal inherited disorders of the nervous system (National Institute of Neurological Disorders and Stroke 2019). These disorders are termed neuronal ceroid lipofuscinoses (NCLs) and include nine forms.

Nine genes and age of onset

The nine forms of neuronal ceroid lipofuscinoses, classified by the gene that causes the disorder, are listed here with the age of onset:

  • CLN1 infantile but also late infantile, juvenile and adult
  • CLN2 late infantile but also juvenile
  • CLN3 juvenile
  • CLN4 adult (Parry)
  • CLN5 late infantile (Finnish variant)
  • CLN6 late infantile, adult (Kufs type A)
  • CLN7 late infantile (Turkish variant)
  • CLN 8 late infantile (Northern epilepsy)
  • CLN10 congenital

Adapted from Mink et al (2013)

These nine NCL forms differ in symptoms, age of onset and order of progression of the disease (Mink et al 2013).

Among children’s rare neurodegenerative disorders, Batten disease is the most common (Mink et al 2013). Each form of NCL is caused by the mutation of a specific gene resulting in a collection of problems that inhibit normal recycling of molecules at a cellular level (National Institute of Neurological Disorders and Stroke 2019).

Funded research is restricted for rare diseases

The broad symptoms seen in NCLs are motor impairment, epilepsy, dementia, vision loss and shortened lifespan (Augustine et al 2013).

Although knowledge of the condition dates back almost 200 years, treatment is restricted to symptomatic care, and a range of medications to control epilepsy and other aspects of the disease.

Augustine et al (2013) emphasise the difficulties that rare diseases, including NCL, pose in developing disease-modifying therapies as there are few published clinical trials, and sample sizes in relevant research are small. Rare diseases have smaller markets, restricting investment opportunities for funded research (Augustine et al 2013).

Innovative programmes of research despite difficulties

Despite these difficulties there are examples of innovative programmes of research such as BATcure, funded by EU Horizon 2020, which supports research to develop new therapeutic options for NCLs.

As NCL is a rare disorder, practitioners may not have the advantage of experience to inform care of the child (Malcolm et al 2011). In Ireland, the Bee for Battens support organisation for people and families affected by Batten disease highlights the lack of expertise to guide care.

In the UK, clinical nurse specialists provide health and social care support to families with a child with the disease. The development of such nursing specialisation is consistent with the need to develop expertise and support the emerging needs of children with disabilities (McCarron et al 2018).

Networks of care: a case study

Orla is a girl aged three with a diagnosis of the CLN2 form of Batten disease. The intellectual disability nurse assesses Orla’s needs and establishes a trusting relationship with her and her family.

The nurse networks with the multidisciplinary team members and the family to establish and maintain a person-centred plan of care that will support Orla and her family, as well as addressing her health and social care needs.

Promoting optimal care for child and family

Examples of care include advocating and arranging for nursing in the home setting, working with a dietitian in relation to Orla’s nutrition and hydration, and with the GP and medical consultants in relation to medication.

Care will be shaped through ongoing assessment of Orla’s changing needs. The intellectual disability nurse also networks with relevant clinical nurse specialists and support organisations to seek information to promote optimal care for Orla and her family.

Liz Hartnett is a lecturer in the School of Nursing and Human Sciences, Dublin City University

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