Care
How can I provide the best care for my child?
Provide the
best care
Manage key
symptoms
Incorporate
physical therapy
Maintain social activities
Provide the best care
Manage key symptoms
Incorporate physical therapy
Maintain social activities
Children with CLN2 disease face a range of symptoms and complications
Caring for a child with CLN2 disease is complex and impacts the family in many ways. Managing complex medical needs, such as a large number of appointments and prescriptions can be challenging, even when the family has found a routine that works.
Due to the range of symptoms and complications that children with CLN2 disease experience, experts agree that children should be under the care of a team of specialists. Talk to your doctor about which specialists they think should be included in your healthcare team.1
Pediatric neurologist
Leads team, primary
management of CLN2 disease
Epilepsy specialist
A neurologist who specializes in the treatment of seizures
Geneticist
May help confirm diagnosis through genetic testing and discuss family planning with parents
Palliative care team
Guides multidisciplinary team and coordinates care at each stage of the disease
Speech therapist
Helps with speech and
language issues
Dietitian
Monitors and ensures
proper nutrition
Ophthalmologist
Monitors and manages
vision loss
Gastroenterologist
Helps with feeding and digestive issues, like constipation and reflux
Orthopaedic surgeon
Helps with muscle and
skeletal issues
Physiotherapist
Helps support movement
and independence
Social worker
Links families with community resources during each stage of disease
Though there is no cure for CLN2 disease, experts from around the world have identified actions you can take to help improve quality of life for your child.
Learn more about managing key symptoms
Key aspects of disease management are covered in this video, including the multidisciplinary team approach, medication strategies, and the importance of physical therapy.
Dr Angela Schulz, MD, PhD
Children’s Hospital
NCL Specialty Clinic
International Center of Lysosomal Storage Disorders (ICLD)
University Medical Center Hamburg–Eppendorf
Hamburg, Germany
Children’s Hospital
NCL Specialty Clinic
International Center of Lysosomal Storage Disorders (ICLD)
University Medical Center Hamburg–Eppendorf
Hamburg, Germany
Key source
- Williams RE. Management Strategies for CLN2 Disease. Pediatric Neurology. 2017 Apr;69:102-112.
Manage key symptoms
Seizure management
Your doctor may use medications to manage seizures, one of the most common symptoms of CLN2 disease. There are many anti-epileptic drugs (AEDs) available to help manage seizures. However, some may be more effective than others in the treatment of seizures that are related to CLN2 disease. It is important to work closely with your doctor to find the right AEDs for your child.1
The goal of CLN2 disease seizure management should be to control seizures and minimise disabling or life-threatening seizures. Even with the use of AEDs, seizures will not likely go away completely and may still occur. Your doctor will work to find the medication(s) or dosage that best controls seizure activity with minimal side effects.1
Medication(s) should be re-evaluated periodically. It is possible that medication(s) that worked well in the past may no longer work as well for your child. If a new symptom or sudden change occurs in your child’s condition, talk to your doctor. Together, you can decide whether or not the new symptom or change in condition may be a reaction to the seizure medication.1
Movement disorder management
Three common movement disorders associated with CLN2 disease are2,3:
- Myoclonus—a sudden, uncontrolled twitching of muscles
- Dystonia—uncontrolled muscle contractions
- Spasticity—increased muscle tone or muscle stiffness that interferes with movement or speech
Experts agree that treatment should focus on reducing how often your child experiences these symptoms, lessening the severity of these symptoms, and relieving any pain children may experience.
Certain medications and physical therapy may be used to help manage movement disorders. Your doctor may even recommend support equipment (an ankle brace) or items designed to adjust body posture (special pillows, a neck support, or a vest). Talk to your doctor about any movement disorder symptoms your child may be experiencing. You can work together to find a treatment that will best address your child's movement disorder symptoms.
Nutritional management
As CLN2 disease progresses, certain feeding and digestive issues may occur, including1,3,4:
- Swallowing difficulties
- Reflux (stomach acid flowing back into the food pipe, or esophagus)
- Constipation
When caring for a child with CLN2 disease, it is important to keep them in good nutritional status, prevent deficiencies, and make sure they maintain an appropriate growth rate. Achieving these goals may require supplementing their diet with formula, vitamins, and minerals. To prevent constipation, it is important to include an appropriate amount of water and fiber in your child’s diet, and consider medications that may help relieve this symptom.1
As swallowing difficulties increase, managing your child’s secretions will become very important. Your doctor will recommend treatments and help you develop the right plan for your child.1
You and your doctor should discuss your child’s nutritional status and any feeding abilities or restrictions you encounter. Together, you can identify potential issues and the various techniques that may address them, such as special diets and other methods of feeding.
Pain management
CLN2 disease includes a range of symptoms, some of which may cause pain. The most common causes of pain are1:
- Contractions/dystonia
- Spasticity/positioning problems
- GI symptoms such as reflux or constipation
As parents or caregivers, you play an important role in pain assessment. Your ability to read your child’s reactions and/or signals can help your doctor find the cause of pain and treat painful symptoms appropriately. Sometimes, finding the cause of pain may take time and careful evaluation of different parts of the body may be required. Once the cause of pain has been identified, your doctor will provide recommendations for addressing pain.1
Key sources
- Williams RE, Adams HR, Blohm M, et al. Expert opinion on the management of CLN2 disease. Poster session presented at: The 12th Annual WORLD Symposium; February – March 2016; San Diego, CA.
- Chang M, Cooper JD, Davidson BL, et al. CLN2. In: Mole S, Williams R, and Goebel HH, eds. The Neuronal Ceroid Lipofuscinoses (Batten Disease). 2nd ed. Oxford, United Kingdom: Oxford University Press; 2011:80-109.
- Mole SE, Williams RE. Neuronal ceroid-lipofuscinoses. 2001 Oct 10 [Updated 2013 Aug 1]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews®.
- Schulz A, Kohlschütter A, Mink J, Simonati A, Williams R. NCL diseases – clinical perspectives. Biochimica et Biophysica Acta. 2013;1832:1801–1806.
Incorporate physical therapy to address specific skills and symptoms
Experts agree that children with CLN2 disease can benefit from physical therapy that has been adapted for the specific challenges they face. Talk to your doctor about developing a physical therapy plan specialized for CLN2 disease. Physical and occupational therapy should be started early to help your child maintain abilities for as long as possible.
Types of therapy1
- Physical—training that promotes comfort, extends independence through the use of therapy chairs (exercise their ability to sit upright) and standing devices (support muscle function and the ability to stand). See below for additional devices. Caregivers can learn exercises and positioning techniques that can be integrated into daily routines
- Occupational—exercises to help children maintain skills and activities of daily living (for example, feeding)
- Speech—early development of alternative communication methods, like symbols and gestures, can help prolong interaction after speech is lost
- Holistic—addresses the whole person (body, mind, and spirit) to decrease possible anxiety, pain, and boredom. Examples of this therapy include music classes and swimming
Adaptive devices that can be useful for children include1:
- Therapy chairs
- Walking and standing devices
- Braces
- Ramps and other in-home equipment
Key source
- Williams RE, Adams HR, Blohm M, et al. Expert opinion on the management of CLN2 disease. Poster session presented at: The 12th Annual WORLD Symposium; February–March 2016; San Diego, CA.
Maintain regular educational and social interaction
Educational and social strategies can positively impact life for children with CLN2 disease1
Maintaining regular school attendance is extremely valuable for children with CLN2 disease and their families. Children and their families benefit from the social interaction and the continued involvement in their community.
It may become difficult to communicate with your child as language, motor skills, and vision decline. To help you continue communicating with your child, experts suggest early development (when possible) and use of alternative communication methods like symbols and gestures.
BDSRA logo
Provide the best care
Children with CLN2 disease face a range of symptoms and complications
Caring for a child with CLN2 disease is complex and impacts the family in many ways. Managing complex medical needs, such as a large number of appointments and prescriptions can be challenging, even when the family has found a routine that works.
Due to the range of symptoms and complications that children with CLN2 disease experience, experts agree that children should be under the care of a team of specialists. Talk to your doctor about which specialis ts they think should be included in your healthcare team.1
Pediatric neurologist
Leads team, primary
management of CLN2 disease
Epilepsy specialist
A neurologist who specializes in the treatment of seizures
Geneticist
May help confirm diagnosis through genetic testing and discuss family planning with parents
Palliative care team
Guides multidisciplinary team and coordinates care at each stage of the disease
Speech therapist
Helps with speech and
language issues
Dietician
Monitors and ensures
proper nutrition
Ophthalmologist
Monitors and manages
vision loss
Gastroenterologist
Helps with feeding and digestive issues, like constipation and reflux
Orthopaedic surgeon
Helps with muscle and
skeletal issues
Physiotherapist
Helps support movement
and independence
Social worker
Links families with community resources during each stage of disease
Though there is no cure for CLN2 disease, experts from around the world have identified actions you can take to help improve quality of life for your child.
Learn more about managing key symptoms
Key aspects of disease management are covered in this video, including the multidisciplinary team approach, medication strategies, and the importance of physical therapy.
Dr Angela Schulz, MD, PhD
Children’s Hospital
NCL Specialty Clinic
International Center of Lysosomal Storage Disorders (ICLD)
University Medical Center Hamburg–Eppendorf
Hamburg, Germany
Key source
- Williams RE. Management Strategies for CLN2 Disease. Pediatric Neurology. 2017 Apr;69:102-112.
Manage key symptoms
Manage key symptoms
Seizure management
Your doctor may use medications to manage seizures, one of the most common symptoms of CLN2 disease. There are many anti-epileptic drugs (AEDs) available to help manage seizures. However, some may be more effective than others in the treatment of seizures that are related to CLN2 disease. It is important to work closely with your doctor to find the right AEDs for your child.1
The goal of CLN2 disease seizure management should be to control seizures and minimise disabling or life-threatening seizures. Even with the use of AEDs, seizures will not likely go away completely and may still occur. Your doctor will work to find the medication(s) or dosage that best controls seizure activity with minimal side effects.1
Medication(s) should be re-evaluated periodically. It is possible that medication(s) that worked well in the past may no longer work as well for your child. If a new symptom or sudden change occurs in your child’s condition, talk to your doctor. Together, you can decide whether or not the new symptom or change in condition may be a reaction to the seizure medication.1
Movement disorder management
Three common movement disorders associated with CLN2 disease are2,3:
- Myoclonus—a sudden, uncontrolled twitching of muscles
- Dystonia—uncontrolled muscle contractions
- Spasticity—increased muscle tone or muscle stiffness that interferes with movement or speech
Experts agree that treatment should focus on reducing how often your child experiences these symptoms, lessening the severity of these symptoms, and relieving any pain children may experience.
Certain medications and physical therapy may be used to help manage movement disorders. Your doctor may even recommend support equipment (an ankle brace) or items designed to adjust body posture (special pillows, a neck support, or a vest). Talk to your doctor about any movement disorder symptoms your child may be experiencing. You can work together to find a treatment that will best address your child's movement disorder symptoms.
Nutritional management
As CLN2 disease progresses, certain feeding and digestive issues may occur, including1,3,4:
- Swallowing difficulties
- Reflux (stomach acid flowing back into the food pipe, or esophagus)
- Constipation
When caring for a child with CLN2 disease, it is important to keep them in good nutritional status, prevent deficiencies, and make sure they maintain an appropriate growth rate. Achieving these goals may require supplementing their diet with formula, vitamins, and minerals. To prevent constipation, it is important to include an appropriate amount of water and fiber in your child’s diet, and consider medications that may help relieve this symptom.1
As swallowing difficulties increase, managing your child’s secretions will become very important. Your doctor will recommend treatments and help you develop the right plan for your child.1
You and your doctor should discuss your child’s nutritional status and any feeding abilities or restrictions you encounter. Together, you can identify potential issues and the various techniques that may address them, such as special diets and other methods of feeding.
Pain management
CLN2 disease includes a range of symptoms, some of which may cause pain. The most common causes of pain are1:
- Contractions/dystonia
- Spasticity/positioning problems
- GI symptoms such as reflux or constipation
As parents or caregivers, you play an important role in pain assessment. Your ability to read your child’s reactions and/or signals can help your doctor find the cause of pain and treat painful symptoms appropriately. Sometimes, finding the cause of pain may take time and careful evaluation of different parts of the body may be required. Once the cause of pain has been identified, your doctor will provide recommendations for addressing pain.1
Key sources
- Williams RE, Adams HR, Blohm M, et al. Expert opinion on the management of CLN2 disease. Poster session presented at: The 12th Annual WORLD Symposium; February – March 2016; San Diego, CA.
- Chang M, Cooper JD, Davidson BL, et al. CLN2. In: Mole S, Williams R, and Goebel HH, eds. The Neuronal Ceroid Lipofuscinoses (Batten Disease). 2nd ed. Oxford, United Kingdom: Oxford University Press; 2011:80-109.
- Mole SE, Williams RE. Neuronal ceroid-lipofuscinoses. 2001 Oct 10 [Updated 2013 Aug 1]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews®.
- Schulz A, Kohlschütter A, Mink J, Simonati A, Williams R. NCL diseases – clinical perspectives. Biochimica et Biophysica Acta. 2013;1832:1801–1806.
Incorporate physical therapy
Incorporate physical therapy to address specific skills and symptoms
Experts agree that children with CLN2 disease can benefit from physical therapy that has been adapted for the specific challenges they face. Talk to your doctor about developing a physical therapy plan specialized for CLN2 disease. Physical and occupational therapy should be started early to help your child maintain abilities for as long as possible.
Types of therapy1
- Physical—training that promotes comfort, extends independence through the use of therapy chairs (exercise their ability to sit upright) and standing devices (support muscle function and the ability to stand). See below for additional devices. Caregivers can learn exercises and positioning techniques that can be integrated into daily routines
- Occupational—exercises to help children maintain skills and activities of daily living (for example, feeding)
- Speech—early development of alternative communication methods, like symbols and gestures, can help prolong interaction after speech is lost
- Holistic—addresses the whole person (body, mind, and spirit) to decrease possible anxiety, pain, and boredom. Examples of this therapy include music classes and swimming
Adaptive devices that can be useful for children include1:
- Therapy chairs
- Walking and standing devices
- Braces
- Ramps and other in-home equipment
Key source
- Williams RE, Adams HR, Blohm M, et al. Expert opinion on the management of CLN2 disease. Poster session presented at: The 12th Annual WORLD Symposium; February – March 2016; San Diego, CA.
Maintain social activities
Maintain regular educational and social interaction
Educational and social strategies can positively impact life for children with CLN2 disease1
Maintaining regular school attendance is extremely valuable for children with CLN2 disease and their families. Children and their families benefit from the social interaction and the continued involvement in their community.
It may become difficult to communicate with your child as language, motor skills, and vision decline. To make sure you can continue communicating with your child, experts recommend early development and use of alternative communication methods like symbols and gestures.
BDSRA logo
