Batten disease is a life-limiting genetic disorder that affects the nervous system (brain, spinal cord and nerves). One of the symptoms of this neurodegenerative condition is a decline in speech and language skills. Let’s take a closer look.

What is batten disease?

Batten disease is a genetic condition caused by a mutation in a gene called CLN. This impacts the ability of cells in our body to eliminate waste products. Batten disease encompasses a collection of 14 disorders called neuronal ceroid lipofuscinosis (NCLs).¹

Symptoms of batten disease typically develop in childhood and progress over time. They cover a range of neurodegenerative diseases that start in childhood. There is currently no cure, and the disease is fatal. 

For more information on what Batten disease is, see the article: What is Batten Disease?  

Speech and language difficulties 

One of the many symptoms of Batten disease is challenges with speech, including speech delays, stuttering and the loss of language skills over time.² Other symptoms can include vision loss, muscle spasms and mental decline. These symptoms can leave patients unable to communicate or carry out day-to-day tasks.³ Dementia can be a symptom of batten disease, which can adversely affect language skills, as well as many other abilities over time.²

These debilitating symptoms can impact earning effectiveness and access to support services, including specialised services.⁴ As a rare condition, healthcare providers such as speech therapists may not have access to the available resources to support this patient group.⁴

What can help?

Speech, communication and language interventions

A speech and language therapist can provide speech, communication and language interventions. There is little research into this area, but results suggest speech and language therapy could benefit some children with Batten disease.²  Speech and language interventions include:

Augmentative and alternative communication (AAC) 

AAC uses ways to communicate aside from talking, for example, through gestures, signed language, or facial expressions.²

• Unaided forms of AAC (without a device) including manual signing 
• The user chooses aided forms of AAC – which may include electronic devices with synthetic speech, books, or boards
• Braille, a tactile form used for reading and writing – the earlier in life it is taught, the more effectively it can be used for communication because as the child grows, the disease progresses²
• Where braille is not feasible, other reading and writing systems can be used which are also tactile, such as Moon type (the Moon System of Embossed Reading) – which can used for children with visual impairment as well as other learning difficulties

Music therapy

As the disease progresses, young people can eventually lose the ability to communicate verbally, so activities involving music and music therapy could be employed.²  Examples from the ongoing study MIND (Music in Neurodegeneration) include:

• Repeated listening to the child or young person’s favourite songs, to support their well-being, memory and emotion and aid communication through familiarity
• ‘Micro-songs’ are short bursts of song that include some functional language (e.g., real words needed in day-to-day situations such as introducing yourself, as well as gestures and signs)
• Music movement, training a patient to a particular musical beat and matching their movements to this
• Use of inclusive technology that allows, for example, the individual to control sounds and music and participate in shared activities
• Music memory books, with sound bites, objects, braille and other aspects that can aid communication

Healthcare and education

Healthcare providers that use the multidisciplinary model form multidisciplinary teams that can help ensure patients with Batten disease receive holistic support, including speech and language therapy.⁴

• Other specialities that could feature in this team include neurology, psychology, occupational and physical therapy, social care, and caregiver support services
• This could function as a telehealth service with a multidisciplinary clinical team providing support for this rare genetic condition through a platform⁴

An improved understanding of what types of language deficits present in the earlier stages of the disease could help support earlier identification and access to the right care.⁵                                                                                                

Training school staff as well as parents to spot the earlier signs of the disease in terms of declining speech and language skills may be helpful. Early initiation of support, such as new and alternative communication and literacy skills (e.g., AAC) could be beneficial.²

Educational interventions could improve the daily speech and language problems experienced by those with Batten disease, and thereby support them to participate in activities and socialise more fully.²

• These interventions could include physical adaptations, technical aids or the use of music, and should be tailored to the individual and person-centred

Supporting young people with Batten disease to transition out of the school system to other care settings or programmes could also be helpful.

When should I seek medical help? 

If your child shows signs or symptoms of Batten disease, seek immediate medical attention. If you know of a family member who suffers from the disease, genetic counselling is advisable. For existing diagnoses of Batten disease, carers and families of children affected by the disease could join support groups to share their experiences and learn from and connect with others.   

FAQs 

What is the life expectancy of someone with batten disease? 

The life expectancy of someone affected by Batten disease might be influenced by how early the symptoms develop. Batten disease tends to start between the ages of 5 and 8 and can lead to death in the early 20s. Adult forms of batten disease are typically milder.

Does batten disease run in families?

Yes. Those who have a family history of Batten disease on both the maternal and paternal sides are at greatest risk of developing the disease.

Why is batten disease fatal?

The genetic mutation in Batten disease causes a build of waste products in brain cells, as structures responsible for removing this waste (called lysosomes) do not function properly. The accumulation of waste products in brain cells causes neuronal cell death over time. This causes many systems of the body to gradually shut down.

Summary

Batten disease refers to a collection of genetic disorders that affect the elimination of cellular waste. Symptomatically, the disease can lead to vision loss, cognitive decline, and problems with speech and language. Early detection of declining language ability could aid earlier intervention. The gradual loss of speech and language abilities makes communication challenges. Alternate forms of communicating could be employer such as music therapy, braille, or gesturing. Healthcare providers could offer multidisciplinary team support, and schools could employ speech and language therapists to support the children in school settings.