Occupational Therapy for Bannayan-Riley-Ruvalcaba Syndrome

Bannayan-Riley-Ruvalcaba Syndrome (BRRS) is a rare genetic disorder characterized by the growth of noncancerous tumors called lipomas, along with small benign tumors called angiomas and other symptoms such as developmental delays and intellectual disabilities. It is considered an overgrowth syndrome. BRRS is caused by mutations in a gene, which plays a role in regulating cell growth and division. The disorder is inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition.

At birth, affected infants are large for their gestational age, with weight exceeding 4000g and length above the 97th percentile.[1]Mallory SB, Leal-Khouri S. Riley-Smith syndrome. In: Mallory SB, Leal-Khouri S, editors. An illustrated dictionary of dermatological syndromes. New York: Parthenon; 1994. pp. 193-4. Other symptoms may include macrocephaly (an abnormally large head), developmental delays, and intellectual disability.

In terms of symptoms, there may be excess birth rate, lower muscle tone, overall motor delay and mild to severe mental impairments. Speech may be delayed in some patients. Seizures are prevalent in 25% of people with this condition.In terms of the hand, there may be accelerated growth and joint hyperextensibility that can affect hand function. With regard to muscle abnormalities, there may be muscle weakness and fatigue after minimal exercise, and generalized muscle pain.[2]Erkek, E., Hizel, S., Sanlý, C., Erkek, A. B., Tombakoglu, M., Bozdogan, O., … & Akarsu, C. (2005). Clinical and histopathological findings in Bannayan-Riley-Ruvalcaba syndrome. Journal of … Reference List

Occupational therapy (OT) can be beneficial for individuals with low muscle tone, also known as hypotonia. Low muscle tone refers to a condition in which the muscles are not as firm and toned as they should be, which can affect a person’s ability to perform daily activities such as eating, toileting, or even bathing.

An occupational therapist will work with the individual to develop a personalized treatment plan that addresses their specific needs and goals. The therapist may use various techniques to improve muscle tone and strength, such as:

  • Exercise and physical activity: The therapist may design an exercise program to improve muscle strength and tone, and to increase range of motion.
  • Sensory integration therapy: This type of therapy uses different types of sensory input, such as movement and touch, to help the brain process sensory information more effectively and improve muscle tone.
  • Adaptive equipment: The therapist may recommend or provide adaptive equipment or assistive devices to help the individual perform daily activities more easily and safely.
  • Environmental modifications: The therapist may suggest changes to the individual’s home or work environment to make it more accessible and easier to navigate.
  • Energy conservation techniques: The therapist may teach the individual ways to conserve energy and reduce fatigue during daily activities.[3]Paleg, G., Romness, M., & Livingstone, R. (2018). Interventions to improve sensory and motor outcomes for young children with central hypotonia: A systematic review. Journal of Pediatric … Reference List

The goal of occupational therapy for low muscle tone is to help the individual increase their independence and participation in daily activities, improve their quality of life and achieve their goals.

Motor delays refer to a delay in the development of fine or gross motor skills, which can affect a person’s ability to perform daily activities. Some of the approaches and interventions mentioned earlier can also be applied to address motor delays as well. These include skills such as handwriting, typing, cutting, and many other skills that a child may experience difficulty with in school.

The occupational therapist may also use play-based activities and games to make the therapy sessions fun and engaging for the child. Playing is an important part of a child’s development. The therapist may also work with other members of the child’s team such as speech therapists, physical therapists, and psychologists to ensure a comprehensive and coordinated treatment approach that meets the child’s needs.

The occupational therapist may also work with the child’s parents or caregivers to teach them strategies and techniques that can be used at home to continue the child’s progress. This may include recommending specific toys or activities that can help improve motor skills, as well as teaching the parents how to adapt the child’s environment to make it more accessible based on their strengths. The child’s progress will be regularly monitored and the treatment plan will be adjusted accordingly. The therapist will work closely with the child and their family to set goals and objectives and to track progress over time.

For developmental delays and mental impairments that can range from mild to severe, occupational therapists can work with patients and their families to help them meet their individual needs and goals, especially those that align with education. Some examples include:

  • Sensory integration therapy: This type of therapy uses different types of sensory input, such as movement and touch, to help the brain process sensory information more effectively and improve developmental skills.[4]Section On Complementary And Integrative Medicine, Council on Children with Disabilities, Zimmer, M., Desch, L., Rosen, L. D., Bailey, M. L., … & Wiley, S. E. (2012). Sensory integration … Reference List
  • Fine motor skill training: The therapist may work with the individual to improve fine motor skills, such as grasping and manipulating small hand-sized objects, through activities such as play, crafts, and games.
  • Gross motor skill training: The therapist may work with the individual to improve gross motor skills, such as crawling, skipping, walking, and jumping, through activities such as play, games, and sports.[5]Zwicker, J. G., & Harris, S. R. (2009). A reflection on motor learning theory in pediatric occupational therapy practice. Canadian Journal of Occupational Therapy, 76(1), 29-37.
  • Cognitive retraining: This may involve working with the individual on memory, attention, problem-solving, and executive functioning skills, through activities such as games, toys, puzzles, and simulations.

The child’s progress will be regularly monitored and the treatment plan will be adjusted accordingly. The therapist(s) will work closely with the child and their family to set goals and objectives and to track progress over time. With the help of occupational therapy and a supportive team, children with developmental delays can make significant progress in their development and improve their ability to participate in daily activities as they grow into adults.

In addition to the physical symptoms, BRRS can significantly impact the emotional and social well-being of affected individuals and their families. Supportive care and counseling may be beneficial for coping with the diagnosis and managing the condition. In these cases, occupational therapists can play a helpful role in managing these psychosocial difficulties. OT can be beneficial for individuals with psychosocial issues, which refer to emotional, behavioral, or mental health concerns that can affect a person’s ability to participate in daily activities. While no on specific technique will be used, some examples of treatment approaches for patients include:

  • Cognitive Behavioral Therapy (CBT): This type of therapy helps the individual identify and change negative thought patterns and behaviors that are impacting their ability to participate in daily activities.
  • Mindfulness-based techniques: This type of therapy helps the individual develop the ability to focus and be present in the moment, which can be beneficial for reducing stress and anxiety.
  • Relaxation techniques: The therapist may teach the individual relaxation techniques such as deep breathing and progressive muscle relaxation, to help them manage stress and anxiety.
  • Activity Analysis and Adaptation: This method is used to identify the individual’s problem areas, analyze the activity and its context, and adapt the environment or the activity to better suit the person’s needs.
  • Adaptive equipment: The therapist may recommend or provide adaptive equipment or assistive devices to help the individual perform daily activities more easily and safely.
  • Environmental modifications: The therapist may suggest changes to the individual’s home or work environment to make it more accessible and easier to navigate.
  • Occupational performance coaching: The therapist may work with the individual to develop and improve skills related to self-care, leisure, and work activities.

Overall, the goal of occupational therapy for individuals with Bannayan‐Riley‐Ruvalcaba syndrome is to help the individual increase their independence and participation in daily activities, improve their quality of life, and achieve their goals. It is important to note that the treatment plan will be adjusted according to the individual’s development and progress. Every one is different an OT can emphasize and use the patient’s strengths to their advantage. Therapy may be used in combination with other therapies such as psychotherapy, counseling and medication management to promote overall success with caregivers and family members.

References

References
1 Mallory SB, Leal-Khouri S. Riley-Smith syndrome. In: Mallory SB, Leal-Khouri S, editors. An illustrated dictionary of dermatological syndromes. New York: Parthenon; 1994. pp. 193-4.
2 Erkek, E., Hizel, S., Sanlý, C., Erkek, A. B., Tombakoglu, M., Bozdogan, O., … & Akarsu, C. (2005). Clinical and histopathological findings in Bannayan-Riley-Ruvalcaba syndrome. Journal of the American Academy of Dermatology, 53(4), 639-643.
3 Paleg, G., Romness, M., & Livingstone, R. (2018). Interventions to improve sensory and motor outcomes for young children with central hypotonia: A systematic review. Journal of Pediatric Rehabilitation Medicine, 11(1), 57-70.
4 Section On Complementary And Integrative Medicine, Council on Children with Disabilities, Zimmer, M., Desch, L., Rosen, L. D., Bailey, M. L., … & Wiley, S. E. (2012). Sensory integration therapies for children with developmental and behavioral disorders. Pediatrics, 129(6), 1186-1189.
5 Zwicker, J. G., & Harris, S. R. (2009). A reflection on motor learning theory in pediatric occupational therapy practice. Canadian Journal of Occupational Therapy, 76(1), 29-37.
Jeff is a licensed occupational therapist and lead content creator for OT Dude. He covers all things occupational therapy as well as other topics including healthcare, wellness, mental health, technology, science, sociology, and philosophy. Buy me a Coffee on Venmo.