Swallowing And Feeding Issues In Batten Disease

Get health & wellness advice into your inbox

Your privacy is important to us. Any information you provide to us via this website may be placed by us on servers. If you do not agree to these placements, please do not provide the information.

Best Milk Alternative

Overview

A simple act like enjoying a meal can become a difficult task for children with Batten disease. Batten disease is a group of genetic disorders, which affects mainly the nervous system and leads to progressive neurological degeneration. It usually starts in childhood. Feeding and swallowing difficulties are the most common among the diverse symptoms of Batten disease. Managing these difficulties requires a multidisciplinary approach involving different healthcare professionals. The disease should be intervened early and given continuous support in order to maintain the well-being of affected individuals.

Batten disease

Batten disease is the common name for a group of fatal genetic disorders called neuronal ceroid lipofuscinoses (NCL). Symptoms of Batten disease start appearing during childhood, usually between the ages of 5 and 10. It passes down to children in an autosomal recessive pattern (when a child inherits one copy of the diseased gene from each parent). Batten disease affects the ability of a child’s brain to break down and get rid of cellular waste, leading to a buildup of a substance called ceroid lipofuscin. This buildup indicates that lysosomes (cell's waste processing units), aren't properly working. The issues with lysosomes cause brain cells to die over time.1

There are 13 types of NCL, categorised based on the age of symptom onset, including infantile, late infantile, juvenile, or adult. Researchers have identified at least 20 genes linked to Batten disease. The most prevalent form, juvenile NCL, has been linked to mutations in the protein Battenin. 

Signs and symptoms of batten disease

All types of Batten disease share similar symptoms, though they may emerge at different ages. In the early stages, infants and children who are affected by Batten disease typically show no signs of illness and progress normally. They achieve developmental milestones like crawling, walking, talking, and self-feeding for the first few years. However, at a certain stage, their development halts and they start to regress. There is a loss of previously acquired skills and the onset of symptoms, which tend to worsen rapidly. However, some forms of the disease may present symptoms within the first year of the child’s life. In most of the children with Batten disease, communication abilities decline and many children become bedridden. 

The most common symptoms are:1,2

Swallowing and feeding issues in batten disease

Children with Batten disease often experience a range of sensorimotor impairments, which can significantly impact activities like feeding and swallowing These difficulties can exacerbate the challenges already present due to the progressive nature of the disease. Swallowing difficulties become more pronounced, leading to limited oral feeding and an increased risk of aspiration, which can result in cardiorespiratory failure and sepsis due to aspiration pneumonia, often leading to death.3

  1. Low muscle tone

The affected children may have low muscle tone in lips, cheeks and tongue, which are used for chewing and swallowing. This can lead to inefficient chewing and swallowing movements, which eventually makes it difficult for them to effectively manage food in their mouths. For example,  moving the food towards the back of the throat for swallowing. An inefficient swallowing reflex increases the risk of choking or aspiration.

  1. Impairment of fine motor skills

Patients with Batten disease encounter challenges in performing fine motor skills, which involve smaller muscle groups like those in the fingers. This can impact their ability to engage in everyday activities including feeding.

  1. Sensory processing difficulties

Sensory processing difficulties can further complicate feeding difficulties in children. They may have difficulty in processing sensory information related to taste, texture, and temperature. This can create aversion towards certain textures or temperatures of food, leading to food refusal or selective eating habits and their ability to manipulate food in their mouths.

  1. Drooling

Children may struggle to maintain proper alignment of the head and neck during feeding, leading to increased drooling during meals. Drooling can be even more exacerbated by poor postural stability and inadequate head control. 

  1. Jaw thrusting and Lip retraction

Patterns of jaw thrusting or lip retraction can further hinder feeding as these movements may interfere with the development of coordinated chewing and swallowing patterns.

  1. Attention difficulties

Children with Batten disease may struggle to have constant attention and concentration during meals. This may result in an increased likelihood of coughing, choking, or drooling due to distractions or restlessness. 

  1. Delayed developmental milestones

Delayed development in drinking, sucking, swallowing, and motor planning abilities can significantly impact feeding activity in children with Batten disease.4

Apart from this, the affected children face a multitude of challenges impacting feeding and swallowing activities. Language impairments may affect communication about food preferences, discomfort during feeding, and prevent expression of needs.  Visual impairment might impact locating food, judging portion size, etc., This causes reliance on tactile, and auditory cues and feeding adaptations. 

In addition, seizures may also disrupt their feeding and swallowing through involuntary movements or altered consciousness. This interferes with muscle coordination needed for swallowing and also increases the risk of aspiration. Impaired cognition may impact understanding of eating instructions, hunger cues, and food experiences, requiring additional support for required nutritional intake. 

Management of swallowing and feeding issues in Batten disease

Patients with Batten disease require additional support and intervention to develop skills to promote safe and effective feeding practices. Addressing the complex feeding difficulties in children requires a multidisciplinary approach involving healthcare professionals such as gastroenterologists, dentists, feeding therapists, speech therapists, occupational therapists, dietitians, nurses, and psychologists.3 Early interventional therapies like feeding therapy, occupational therapy, and speech therapy are essential to improve the quality of life.5 Parents and caregivers need to learn to spot signs of trouble like coughing, choking, or breathing problems during meals. They should regularly check how well the child swallows and always watch out for any signs of food going down the wrong way. Caregivers also need to know the right kinds of food and drinks, and the best positions for eating. This is essential to address the specific needs and challenges of each child and give customised support for their overall health and well-being.

Oral stimulation and treatment program

A positive oral-motor treatment program emphasises sensory and motor prerequisites for feeding skills development. This could potentially lay the foundation for successful eating. Introducing small amounts of food and liquid provides a sensory experience. Regular cleaning reduces bacteria in saliva, lowering the risk of aspiration pneumonia. Stimulating the child's mouth helps to maintain the swallowing process by allowing them to manage their own salival secretions for as long as possible. Guidance from dentists, using suction machines, and maintaining proper oral hygiene becomes crucial in managing secretions, particularly if swallowing issues persist.4 

Other pharmacological interventions such as inhaled ipratropium bromide, transdermal hyoscine, or enteral glycopyrrolate and non-pharmacological interventions like physiotherapy and corn silk tea are recommended to manage secretions. Regular botulinum toxin injections into the saliva glands may also be needed to control symptoms.3

Occupational therapy

Occupational therapists assist patients in enhancing their fine motor skills and coordination while maintaining dexterity through specialised training exercises. These exercises focus on strengthening the hands, wrists, and fingers, thereby improving hand grip and control.6

Feeding tube

Feeding tubes are used to circumvent feeding and swallowing difficulties to provide fluids, nutrition and/or medication. It can deliver essential nutrients and liquids directly into a patient’s stomach or intestines. Food can be administered intermittently as a discrete dose of food or continuously over a long period of time.

These medical devices are essential for managing malnutrition and dehydration in patients with Batten disease. The need for a feeding tube is most common in patients with infantile Batten disease and some types of late-infantile Batten disease. This is particularly important when the child is experiencing difficulties swallowing, has a high risk of aspiration, or cannot obtain enough nutrients from normal feeding.7

Types of feeding tubes

  1.  Nasal feeding tubes

Nasal feeding tubes are temporarily inserted through the patient’s nose into the stomach or small intestine. There are two types: nasogastric tubes deliver food to the stomach, while nasoduodenal and nasojejunal tubes bypass the stomach to deliver nutrients to the small intestine. Nasal tubes are generally for short-term use and are visible.

  1. Gastric tubes

Gastric tubes are tubes surgically inserted into the stomach through a small incision in the abdomen, which can be accessed externally. They can deliver food to the stomach (gastrostomy tube) or have an additional tube extending into the small intestine (gastro-jejunal tube). Initially, a percutaneous endoscopic gastrostomy (PEG) tube is commonly used, which is later replaced with more discreet "button" tubes.7

Risks of feeding tubes

While feeding tubes are crucial for nutrition support, they come with risks. Nasal tubes may pose a small risk of esophageal damage. Surgical insertion of gastric tubes carries risks such as reactions to anaesthesia, bleeding, or infections. Children who are dependent on gastrostomy tubes require frequent monitoring, and caregivers should receive proper guidance on home care for gastrostomy tubes and enteral feeding. Severe gastroesophageal reflux may necessitate proton pump inhibitors or fundoplication.3,7 Proper care of the stoma (a surgically-created small opening that connects to the digestive system)  is essential to prevent infections. Children who are tube-fed may exhibit malalignment of teeth, plaque buildup, and gingivitis, which emphasises the importance of oral hygiene and dental care in their management.4 Parents may struggle with the decision for tube placement, as it often signifies the advanced stage of the disease. Early engagement with a palliative care team to discuss expectations and milestone losses can be beneficial.3

Nutrition management

Feeding difficulties often lead to nutritional deficiencies. Nutritional management is vital, focusing on maintaining adequate energy and fluid intake. This may require fortified foods and dietary supplements, although high-calorie fortified foods might not be well tolerated.3

Summary

Swallowing and feeding issues in Batten disease present multifaceted challenges. It is often due to sensorimotor impairments, cognitive deficits, and behavioural changes. Children with Batten disease often experience difficulties in muscle tone, fine motor skills, sensory processing, and drooling impacts their ability to feed safely and effectively. A multidisciplinary approach involving healthcare professionals like dentists, speech-language pathologists, occupational therapists, and dietitians is crucial in addressing these challenges. Intervention therapies such as oral stimulation programs, occupational therapy, and feeding tube placement are essential for improving the quality of life for the affected children. 

References

  1. Neuronal Ceroid Lipofuscinosis (Batten Disease) | National Institute of Neurological Disorders and Stroke [Internet]. [cited 2024 Jun 10]. Available from: https://www.ninds.nih.gov/health-information/disorders/neuronal-ceroid-lipofuscinosis-batten-disease.
  2. Batten Disease: What Is It, Symptoms, Cause & Outlook. Cleveland Clinic [Internet]. [cited 2024 Jun 10]. Available from: https://my.clevelandclinic.org/health/diseases/6018-batten-disease.
  3. Williams RE, Adams HR, Blohm M, Cohen-Pfeffer JL, Reyes E de los, Denecke J, et al. Management Strategies for CLN2 Disease. Pediatric Neurology [Internet]. 2017 [cited 2024 Jun 10]; 69:102–12. Available from: https://www.sciencedirect.com/science/article/pii/S0887899416310268.
  4. Dental Issues and Mouth Care [Internet]. Batten Disease Support and Research Association (BDSRA); 2002. Available from: https://bdsrafoundation.org/wp-content/uploads/2012/01/Dental-Issues-2.pdf.
  5. Mole SE, Schulz A, Badoe E, Berkovic SF, Los Reyes EC de, Dulz S, et al. Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients. Orphanet Journal of Rare Diseases [Internet]. 2021 [cited 2024 Jun 10]; 16(1):185. Available from: https://doi.org/10.1186/s13023-021-01813-5.
  6. Tan V. Physiotherapy and Occupational Therapy | Batten Disease News [Internet]. [cited 2024 Jun 10]. Available from: https://battendiseasenews.com/physiotherapy-and-occupational-therapy/.
  7. PhD LF. Tube Feeding | Batten Disease News [Internet]. [cited 2024 Jun 10]. Available from: https://battendiseasenews.com/tube-feeding/.

Get health & wellness advice into your inbox

Your privacy is important to us. Any information you provide to us via this website may be placed by us on servers. If you do not agree to these placements, please do not provide the information.

Best Milk Alternative
[optin-monster-inline slug="yw0fgpzdy6fjeb0bbekx"]
This content is purely informational and isn’t medical guidance. It shouldn’t replace professional medical counsel. Always consult your physician regarding treatment risks and benefits. See our editorial standards for more details.

Get our health newsletter

Get daily health and wellness advice from our medical team.
Your privacy is important to us. Any information you provide to this website may be placed by us on our servers. If you do not agree do not provide the information.

Nirainila Antony Joseph

Bachelor of Dental Surgery (BDS), Tamil Nadu Government Dental College and Hospital, India

Master of Science (MS), Institute of Oral Medicine, National Cheng Kung University, Taiwan

Dr. Nirainila is a general dentist with extensive experience in comprehensive dental care and patient education. She is also a dedicated researcher focusing on dental aerosols, investigating their implications and control strategies within dental settings. Alongside her clinical and research endeavors, she is a medical content writer who simplifies complex medical information into reader-friendly articles, making health education accessible to a broader audience.

my.klarity.health presents all health information in line with our terms and conditions. It is essential to understand that the medical information available on our platform is not intended to substitute the relationship between a patient and their physician or doctor, as well as any medical guidance they offer. Always consult with a healthcare professional before making any decisions based on the information found on our website.
Klarity is a citizen-centric health data management platform that enables citizens to securely access, control and share their own health data. Klarity Health Library aims to provide clear and evidence-based health and wellness related informative articles. 
Email:
Klarity / Managed Self Ltd
Alum House
5 Alum Chine Road
Westbourne Bournemouth BH4 8DT
VAT Number: 362 5758 74
Company Number: 10696687

Phone Number:

 +44 20 3239 9818