Read Full Text: Management Strategies for CLN2 Disease (Free to access)
Journal: Pediatric Neurology
Year Published: 2017
Ranked 68th on our 2016-2021 list of the 100 Most Influential OT Research Articles
This week’s article covers CLN2, a rare pediatric neurodegenerative disorder that falls under the umbrella category of Batten disease. Patients with CLN2 typically die young, usually between 14-17 years of age.
CLN2 kids are the ones whose stories stick with us over time. Our work with these patients typically involves preserving quality of life, supporting sleep hygiene, and promoting dignity and community integration.
Even if you never see a patient with CLN2, this article has the power to transform how you practice. You’ll gain a deeper understanding of palliative care, especially how it applies to children. And, you’ll get a better idea of how OTs can truly partner with patients and families as therapy intersects with end-of-life care.
Let’s dive in.
How, and why, was this article written?
You might have noticed that we cover rare diseases fairly regularly in the Club. Incidentally, while there are 6,000 rare diseases (known as orphan diseases) that have historically received very little funding or research, that is starting to change.
Slowly and steadily, more and more disease-specific management guidelines are being written.
This is the first management guideline written for CLN2, and it was compiled by surveying 24 individuals considered experts on the disorder.
What is CLN2?
CLN2 is a subset of a larger class of diagnoses known as Batten disease.
Collectively, Batten disease refers to some of the most prevalent pediatric neurodegenerative disorders. However, each of the different subtypes is considered rare. (You can learn about CLN1-10 here.)
The scientific name of Batten disease is “neuronal ceroid lipofuscinoses,” or NCLs. All NCLs are inherited and caused by a defect in a specific gene. This results in a cascade of problems, which interferes with the cells’ ability to recycle certain molecules.
Children with the disease often appear healthy and develop normally before they begin to show symptoms. All forms of the disease are fatal.
In CLN2, specifically, symptoms usually begin between the ages of 2-4, and death usually occurs by middle adolescence (ages 14-17).
What symptoms emerge as the disease progresses?
CLN2 is marked by epilepsy and rapid psychomotor decline.
The first symptoms to emerge are language delay and seizures. Seizures can present in multiple forms, including myoclonic, atonic, or tonic-clonic.
Other early symptoms may include:
- Truncal and peripheral ataxia
- Behavioral disturbances
- Developmental delays
Following the onset of seizures and other early symptoms, a rapid deterioration in cognitive and motor function ensues over the next 2-3 years. By about 6 years of age, many children will experience:
- Loss of speech
- Loss of voluntary movement
- Myoclonus
- Dystonia
- Spasticity
- Sleep disturbances
Visual impairment can begin around age 4, leading to eventual blindness by 7-10 years of age. As the disease progresses, children lose the ability to swallow, and they eventually become gastrostomy tube-dependent.
There are some atypical presentations, where the symptoms present later or have a slower progression of symptoms. However, even atypical presentations will eventually lead to premature death.
I did want to point out that hearing is typically spared during the disease progression, and this will be an important consideration as you plan your treatment(s).
How is the diagnosis made, and why is early diagnosis so important?
Early diagnosis is challenging, primarily due to a lack of disease awareness and non-specificity of early symptoms.
Most children are diagnosed around age 5, once a substantial loss of function has already occurred.
Improving early diagnosis of CLN2 is critical for several reasons. A timely diagnosis not only means families can make informed decisions as early as possible, but it also means disease-specific care can be initiated and inappropriate medications can be avoided.
The authors emphasize that the onset of unprovoked seizures in 2-4 year olds—in conjunction with language delay—should prompt suspicion of CLN2. Biochemical testing should then occur, which is how the disease is ultimately diagnosed.
Treatment should be guided by a pediatric palliative care approach.
Even if you are not accustomed to working in a palliative care framework (especially with children), the pillars of care should feel familiar to any OT practitioner.
Pediatric palliative care is holistic in nature, and it is focused on optimizing quality of life for patients and their families. It requires a multidisciplinary approach, where the interests and values of patients are central in all decision-making processes.
The article has several helpful graphs that help you visualize what this looks like in the different states of CLN2. I’m including an example of one below:
In what ways might OT/As be involved with care?
The management strategies cover everything from medication management to visual support. I encourage you to read through the full guidelines to really get a full scope of treatment. But, here’s a breakdown of the main areas I thought were most relevant to OT care.
Maintenance of function for as long as possible
The article states that occupational therapy should be implemented early to maintain function for as long as possible (and to delay or prevent complications). Specific recommendations include:
- Caregivers should be instructed on exercises, posture, and positioning so they can be integrated into daily routines.
- Adaptive devices are recommended.
- Therapy chairs and standing/walking devices can support age-appropriate positioning for daily activities.
- Caregivers should be advised on home adaptations to accommodate physical disabilities and cognitive impairments.
Nutritional management
The article recommends a multidisciplinary feeding and nutrition team consisting of a dietician, gastroenterologist, speech/feeding therapist, physical/occupational therapist, nurse, and psychologist.
Management of sleep disturbance
Poor sleep can have an adverse effect on seizure control, and it can exacerbate behavioral and cognitive impairments.
Recommended supports include: behavioral strategies (like good sleep hygiene), environmental strategies (like music, massage, or weighted blankets), and medications.
Management of pain and distress
Pain can originate from multiple sources, including:
- Musculoskeletal (spasticity, dystonia)
- Gastrointestinal (constipation, reflux, dysmotility)
- Urinary retention
- Corneal abrasions
- Skin breakdown
Determining the source of the pain will, of course, aid in managing it. This becomes more complicated as communication skills decrease. Please see the assessments later in the article, which can assist in identifying pain.
Social and educational strategies
Social isolation is commonly experienced by these children and their families. Thus, it’s essential that we strive to provide support to help patients and families remain integrated in their communities.
Please remember: even though speech is impaired, these children retain the ability to hear—and they have the capacity to make meaningful connections with people. Augmentative and alternative communication strategies should be initiated early.
School attendance should be maintained as long as possible, so children can benefit from both peer interactions and the sensory experience of being in the classroom.
Importantly, school personnel may need to undergo a paradigm shift, where they move from a traditional model of successive achievements to a model that is focused on maintenance of abilities—and, eventually, adaptation to loss of function.
Management of behavioral symptoms
Anxiety and agitation are common problems that can cause great suffering to these children—not to mention distress to caregivers. Nonpharmacologic interventions should include prevention of anxiety and agitation, by way of identifying and modifying triggers.
Family support
Family members living with, and caring for, an affected child will typically experience significant psychological stress, social challenges, and financial strain.
Ongoing feelings of grief and loss should be anticipated, and memory-making activities should be encouraged.
The needs and skills of caregivers should be regularly assessed.
What specific assessments were recommended?
All of the mentioned assessments were related to pain management:
- Pediatric Pain Profile (PPP)
- Non-Communicating Children’s Pain Checklist (NCCPC)
- Batten Observational Pain Scale (BOPS)
See all CLN2 assessments in our Assessment Search
Additional resources are available
These particular associations were mentioned by the article:
I also found benefit from the following sites:
Future perspectives
Disease-modifying therapies are being developed.
In fact, CLN2 is the one Batten disease that does have a drug on the market: Brineura. Brineura was approved in 2017 by the U.S. Food and Drug Administration, and appears to be slowing the course of the disease. It is an enzyme replacement therapy that works by replacing the TPP1 enzyme.
Takeaways
(These are our own takeaways and were not mentioned specifically in the article.)
It is our professional duty to be aware of rare diseases.
A client with a diagnosis like CLN2 is someone you will likely never forget. They will forever stay with you, and you will carry their story in your heart.
You might only see a few clients with rare diseases over the entire course of your career. After all, rare diseases are, by nature, rare. However, it is still estimated that anywhere from 25-30 million Americans live with some type of rare disease—and that is not a small number!
Rare diseases don’t always follow the same devastating trajectory as Batten disease, and we can’t possibly know the nuances of every single disease out there—but, we should always be aware that patients might present with a rare disease that has not yet been diagnosed. When we see a patient where the current diagnosis just is not fitting their presentation, we need to get in touch with the care team.
When a diagnosis like a Batten disease does show up on your caseload, please remember that there are more and more disease-specific guidelines being developed each year. By remaining aware of these developments, we can ensure we provide the best care possible to all of our patients—even the ones that might otherwise fall through the cracks.
A diagnosis like this causes us to pause and think about our work with terminal patients—and all patients, for that matter.
Several years ago, I read Atul Gawande’s famous book, “Being Mortal,” which explores the intersection of medical care and end-of-life care. I often think about the questions he urges healthcare professionals to broach with their patients. Can you imagine how much healthcare would be transformed, if we had the space and courage to have these types of conversations with all of our patients (and their families)?
Here’s what Dr. Gawande recommends:
Whenever serious sickness or injury strikes and your body or mind breaks down, the vital questions are the same:
• What is your understanding of the situation and its potential outcomes?
• What are your fears and what are your hopes?
• What are the trade-offs you are willing to make and not willing to make?
• What is the course of action that best serves this understanding?
Here’s the full APA citation for this article:
Williams RE, Adams HR, Blohm M, Cohen-Pfeffer JL, de Los Reyes E, Denecke J, Drago K, Fairhurst C, Frazier M, Guelbert N, Kiss S, Kofler A, Lawson JA, Lehwald L, Leung MA, Mikhaylova S, Mink JW, Nickel M, Shediac R, Sims K, Specchio N, Topcu M, von Löbbecke I, West A, Zernikow B, Schulz A. Management Strategies for CLN2 Disease. Pediatr Neurol. 2017 Apr;69:102-112. doi: 10.1016/j.pediatrneurol.2017.01.034. Epub 2017 Feb 4. PMID: 28335910.
