Materiały źródłowe

• #1 Rett Care Plan | Rett Revealed

  https://www.rettrevealed.com/rett-care-plan/

  Rett syndrome affects multiple body systems and functions, which means caring for a child with Rett will involve doctors and other care providers who are experts in different fields. […] Managing Rett is all about teamwork. You, your doctor, and a team of specialists will be working together to develop a comprehensive care plan for your child based on their symptoms and needs. […] Your role is vitally important not only to your child’s well-being, but it’s what’s going to help them live their best life. Multidisciplinary care over time can help manage their signs and symptoms, even into adulthood. […] A care team’s goal is to manage symptoms and provide developmental support for your child throughout their lifetime, which could help with their movement, ability to communicate, and engagement in social activities.

• #2 Rett Syndrome | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/rett-syndrome

  Rett syndrome is a genetic disorder that causes a loss of spoken language and motor skills, as well as behavioral and neurological problems. […] While there is no currently targeted treatment or gene therapy for Rett syndrome, a care plan can be adapted to the needs of each child. […] In many cases, the physical symptoms of Rett syndrome can be eased and managed with a robust regimen of therapies: Occupational therapy, Speech therapy, Physical therapy, Augmentative communication. […] The Boston Childrens Hospital Rett Syndrome Program is dedicated to helping children and adults who have Rett syndrome. We bring together a team of physicians and therapists from various fields who have expertise in Rett syndrome. Our team will work with your child and family to choose the best combination of therapies and medication to manage your child’s symptoms.

• #3 Rett Syndrome | Effective Health Care (EHC) Program

  https://effectivehealthcare.ahrq.gov/health-topics/rett-syndrome

  Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It’s related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. Between 3 months and 3 years of age, though, they stop developing and even lose some skills. Symptoms include […] Rett syndrome has no cure. You can treat some of the symptoms with medicines, surgery, and physical and speech therapy. Most people with Rett syndrome live into middle age and beyond. They will usually need care throughout their lives.

• #4 Rett syndrome – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/rett-syndrome/diagnosis-treatment/drc-20377233

  Although there is no cure for Rett syndrome, treatments address symptoms and provide support. These may improve the potential for movement, communication and social participation. The need for treatment and support doesn’t end as children become older it’s usually necessary throughout life. Treating Rett syndrome requires a team approach. […] Treatments that can help children and adults with Rett syndrome include: […] Regular medical care. Management of symptoms and health problems may require a multispecialty team. Regular monitoring of physical changes such as scoliosis, gastrointestinal (GI) issues and heart problems is needed. […] Medications. Though medications can’t cure Rett syndrome, they may help control some signs and symptoms that are part of the disorder. Medications may help with seizures, muscle stiffness, or problems with breathing, sleep, the gastrointestinal (GI) tract or the heart.

• #5 Managing Rett Care | International Rett Syndrome Foundation

  https://www.rettsyndrome.org/about-rett-syndrome/managing-rett-care/

  Managing Rett syndrome involves a personalized approach that addresses the specific needs of each individual. […] Each individual with Rett syndrome has distinct needs that evolve over time. Collaborative care among a diverse team of specialists is essential to address the varying aspects of the condition. […] Developed in collaboration with Rett syndrome experts throughout the U.S., the Rett Syndrome: Comprehensive Care Guidelines and Quick Reference Guide are free resources, intended to be used to support a meaningful partnership between caregivers and the physicians, nurses, and therapists who are involved in the care of an individual with Rett syndrome. […] Managing Rett syndrome requires a team of specialists working together to address the unique needs of each individual. Collaboration among these experts ensures a comprehensive approach to care, supporting every aspect of health and well-being.

• #6 Consensus guidelines on managing Rett syndrome across the lifespan

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7488790/

  Rett syndrome (RTT) is a severe neurodevelopmental disorder with complex medical comorbidities extending beyond the nervous system requiring the attention of health professionals. […] The overall multisystem issues of RTT require primary care providers and other health professionals to manage complex medical comorbidities within the context of the whole individual and family. […] To help address this challenge, based on a review of published literature regarding RTT symptomatology that identified the most relevant primary care concerns through a modified Delphi consensus approach, we developed recommendations regarding guidance for best practice. […] The guidance for management by health professionals was grouped by relevant features and therapeutic approaches at different ages. […] The checklist is suitable for use by health professionals as well as the family as part of their healthcare records, with tables providing further detailed guidance.

• #7 Available Treatments for Rett Syndrome | International Rett Syndrome Foundation

  https://www.rettsyndrome.org/healthcare-providers/available-treatments/

  Since no two individuals with Rett are exactly the same, each one needs a personalized treatment plan. […] Any treatment decision should be made based on the individual and family’s needs, goals, and values in consultation with a healthcare provider. […] The IRSF Rett Syndrome Comprehensive Care Guidelines and Quick Reference Guide were developed in collaboration with Rett syndrome experts throughout the U.S. These guidelines help support a meaningful partnership between the caregivers, physicians, nurses, and therapists involved in the care of individuals with Rett syndrome. […] The Rett Expert Clinical Collaboration Group provides a space to engage with leading Rett syndrome experts and access resources specifically for clinicians treating individuals with Rett. […] IRSF makes it easy to find and enroll patients in clinical trials for Rett syndrome. We also offer valuable patient care resources for healthcare providers involved in the treatment of an individual with Rett syndrome.

• #8 Managing Rett Care | International Rett Syndrome Foundation

  https://www.rettsyndrome.org/about-rett-syndrome/managing-rett-care/

  Managing Rett syndrome involves a personalized approach that addresses the specific needs of each individual. […] Each individual with Rett syndrome has distinct needs that evolve over time. Collaborative care among a diverse team of specialists is essential to address the varying aspects of the condition. […] Developed in collaboration with Rett syndrome experts throughout the U.S., the Rett Syndrome: Comprehensive Care Guidelines and Quick Reference Guide are free resources, intended to be used to support a meaningful partnership between caregivers and the physicians, nurses, and therapists who are involved in the care of an individual with Rett syndrome. […] Managing Rett syndrome requires a team of specialists working together to address the unique needs of each individual. Collaboration among these experts ensures a comprehensive approach to care, supporting every aspect of health and well-being.

• #9 Rett Syndrome | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/rett-syndrome

  Currently, there is no cure for Rett syndrome. Treatment for children with the disorder is complex and varied, and must be customized to address your child’s specific needs. […] At CHOP, a team of specialists including neurologists, geneticists or genetic counselors, pediatricians, gastroenterologists, orthopedists, physiatrists, speech therapists, physical and occupational therapists, nutritionists and other healthcare professionals work together to develop a comprehensive treatment plan for your child. […] Treatment for children with Rett syndrome often includes: Occupational and physical therapy, including the seating clinic and adaptive equipment evaluations […] Speech therapy to maximize verbal communication and to consider augmentative or alternative forms of communication. […] Rehabilitative and behavior therapy

• #10 Tri-State Rett Syndrome Center | Neurology | Patient Care | Montefiore Einstein

  https://montefioreeinstein.org/patient-care/services/neurology/programs/tri-state-rett-syndrome-center

  Our interdisciplinary team is comprised of pediatric neurologists, pediatricians, physiatrists, psychiatrists, neuropsychologists, sleep medicine specialists, gastroenterologists, cardiologists, pulmonologists, urologists, orthopedists, epileptologists, endocrinologists, dentists, neuroradiologists, neurogeneticists, voice and swallow pathologists, nutritionists, and physical, occupational, and respiratory therapists, among others, who collaborate to address the complex needs of each patient and their families. […] We diagnose and treat children and adults with Rett syndrome using a multidisciplinary team approach that includes the latest and most advanced diagnostic and treatment techniques and technologies to facilitate precision care plans. […] Treatment includes medications for improving motor difficulties and controlling seizures, as well as occupational and physical therapy to help patients develop skills for performing activities of daily life. […] Our elite multidisciplinary team of experts is at the forefront of Rett syndrome care and the development of therapies. From prevention to treatment options, we will propose an individualized treatment plan that fits each patient’s needs and lifestyle.

• #11 Health Care System Considerations for Rett Syndrome Management

  https://www.ajmc.com/view/health-care-system-considerations-for-rett-syndrome-management

  We have never felt more optimistic than [at] any time in the Rett syndromes history in terms of diagnosis today. […] Referrals to a center of excellence is really one of the most important things that can help a family feel confident that the care plan they have for their child is the best one available today. […] In closing, I would love to know that the health care system would support regular referrals once a year or once every few years to a center of excellence to make sure that somebody who truly understands this disorder is taking a look at the interventions, treatments, and care plan for every individual with Rett syndrome. […] That the care plan can come back to the local care team and be executed without question so that the recommendations truly are recognized as being the best standard of care for that child.

• #12 Managing Rett Care | International Rett Syndrome Foundation

  https://www.rettsyndrome.org/about-rett-syndrome/managing-rett-care/

  Working with a knowledgeable care team is essential for developing an effective care plan. […] Connecting with a specialized clinic can provide valuable insights and support for managing Rett syndrome. Our Center of Excellence clinic network brings this collaborative care model to families, offering guidance from Rett experts and specialized care in one place to help navigate every step of the journey. […] The Rett Syndrome Communication Guidelines provide essential strategies to enhance communication for individuals and their care teams. These guidelines and the accompanying continuing education program for providers give parents, caregivers, and educators the power to create inclusive environments where every child’s voice is valued. […] Connecting with a clinic designated as a Center of Excellence can ensure that individuals receive the highest quality of care tailored to their needs. These clinics specialize in Rett syndrome, providing comprehensive resources and support.

• #13 Health Care System Considerations for Rett Syndrome Management

  https://www.ajmc.com/view/health-care-system-considerations-for-rett-syndrome-management

  We have never felt more optimistic than [at] any time in the Rett syndromes history in terms of diagnosis today. […] Referrals to a center of excellence is really one of the most important things that can help a family feel confident that the care plan they have for their child is the best one available today. […] In closing, I would love to know that the health care system would support regular referrals once a year or once every few years to a center of excellence to make sure that somebody who truly understands this disorder is taking a look at the interventions, treatments, and care plan for every individual with Rett syndrome. […] That the care plan can come back to the local care team and be executed without question so that the recommendations truly are recognized as being the best standard of care for that child.

• #14 Health Care System Considerations for Rett Syndrome Management

  https://www.ajmc.com/view/health-care-system-considerations-for-rett-syndrome-management

  They are also equipped to be able to help families tease out what Rett syndrome is and what it is not, and make recommendations back to local care teams for what interventions, medication changes, equipment, education plans, and therapy plans could best benefit the child. […] To have clear communication and clear authorizations for those services would really be the most ideal world possible.

• #15 Rett syndrome – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/rett-syndrome/diagnosis-treatment/drc-20377233

  Physical therapy. Physical therapy and the use of braces or casts can help children who have scoliosis or require hand or joint support. In some cases, physical therapy can also help maintain movement, create a proper sitting position, and improve walking skills, balance and flexibility. Assistive devices such as a walker or wheelchair may be helpful. […] Occupational therapy. Occupational therapy may improve purposeful use of the hands for activities such as dressing and feeding. If repetitive arm and hand movements are a problem, splints that restrict elbow or wrist motion may be helpful. […] Speech-language therapy. Speech-language therapy can help improve a child’s life by teaching nonverbal ways of communicating and helping with social interaction. […] Nutritional support. Proper nutrition is extremely important for healthy growth and for improved mental, physical and social abilities. A high-calorie, well-balanced diet may be recommended. Feeding strategies to prevent choking or vomiting are important. Some children and adults may need to be fed through a tube placed directly into the stomach (gastrostomy).

• #16 Multidisciplinary Management of Rett Syndrome: Twenty Years’ Experience

  https://www.mdpi.com/2073-4425/14/8/1607

  The management of bruxism in RTT is mainly conservative. […] Physiotherapy intervention is recommended to encourage greater independence with ambulation, reduce agitation and prevent the development or worsening of contractures and other secondary musculoskeletal complications. […] Music therapy has been shown to improve cognitive and physical development. […] Gastrostomy feeding tube placement may be indicated for nutritional support, as occurred in 23% of our population. […] The results of this study highlight the usefulness of our clinical model based on multidisciplinary management aimed at preserving and/or prolonging independence in mobility, feeding and communication.

• #17 Rett syndrome – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/rett-syndrome/diagnosis-treatment/drc-20377233

  Physical therapy. Physical therapy and the use of braces or casts can help children who have scoliosis or require hand or joint support. In some cases, physical therapy can also help maintain movement, create a proper sitting position, and improve walking skills, balance and flexibility. Assistive devices such as a walker or wheelchair may be helpful. […] Occupational therapy. Occupational therapy may improve purposeful use of the hands for activities such as dressing and feeding. If repetitive arm and hand movements are a problem, splints that restrict elbow or wrist motion may be helpful. […] Speech-language therapy. Speech-language therapy can help improve a child’s life by teaching nonverbal ways of communicating and helping with social interaction. […] Nutritional support. Proper nutrition is extremely important for healthy growth and for improved mental, physical and social abilities. A high-calorie, well-balanced diet may be recommended. Feeding strategies to prevent choking or vomiting are important. Some children and adults may need to be fed through a tube placed directly into the stomach (gastrostomy).

• #18 Rett syndrome – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/rett-syndrome/diagnosis-treatment/drc-20377233

  Physical therapy. Physical therapy and the use of braces or casts can help children who have scoliosis or require hand or joint support. In some cases, physical therapy can also help maintain movement, create a proper sitting position, and improve walking skills, balance and flexibility. Assistive devices such as a walker or wheelchair may be helpful. […] Occupational therapy. Occupational therapy may improve purposeful use of the hands for activities such as dressing and feeding. If repetitive arm and hand movements are a problem, splints that restrict elbow or wrist motion may be helpful. […] Speech-language therapy. Speech-language therapy can help improve a child’s life by teaching nonverbal ways of communicating and helping with social interaction. […] Nutritional support. Proper nutrition is extremely important for healthy growth and for improved mental, physical and social abilities. A high-calorie, well-balanced diet may be recommended. Feeding strategies to prevent choking or vomiting are important. Some children and adults may need to be fed through a tube placed directly into the stomach (gastrostomy).

• #19 Rett Care Plan | Rett Revealed

  https://www.rettrevealed.com/rett-care-plan/

  Physical therapy (PT) can enhance your child’s physical fitness and function and help reduce the dangers of becoming unable to move (immobility). […] Music therapy (MT) can improve functional hand use, develop the possibilities for making choices, enhance nonverbal communication, attention, and eye contact, relax and soothe, and help express emotions and feelings. […] Speech-language therapy (ST) can increase the ability for your child to use Assistive Augmentative Communication (AAC) devices, address difficulty with movements (apraxia), and help with basic motor challenges involved with eating. […] Occupational therapy (OT) provides ways to help your child increase the use of their hands and body by adapting the child’s environment, improving their ability to control their own world.

• #20 Rett syndrome – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/rett-syndrome/diagnosis-treatment/drc-20377233

  Physical therapy. Physical therapy and the use of braces or casts can help children who have scoliosis or require hand or joint support. In some cases, physical therapy can also help maintain movement, create a proper sitting position, and improve walking skills, balance and flexibility. Assistive devices such as a walker or wheelchair may be helpful. […] Occupational therapy. Occupational therapy may improve purposeful use of the hands for activities such as dressing and feeding. If repetitive arm and hand movements are a problem, splints that restrict elbow or wrist motion may be helpful. […] Speech-language therapy. Speech-language therapy can help improve a child’s life by teaching nonverbal ways of communicating and helping with social interaction. […] Nutritional support. Proper nutrition is extremely important for healthy growth and for improved mental, physical and social abilities. A high-calorie, well-balanced diet may be recommended. Feeding strategies to prevent choking or vomiting are important. Some children and adults may need to be fed through a tube placed directly into the stomach (gastrostomy).

• #21 Rett syndrome – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/rett-syndrome/diagnosis-treatment/drc-20377233

  Physical therapy. Physical therapy and the use of braces or casts can help children who have scoliosis or require hand or joint support. In some cases, physical therapy can also help maintain movement, create a proper sitting position, and improve walking skills, balance and flexibility. Assistive devices such as a walker or wheelchair may be helpful. […] Occupational therapy. Occupational therapy may improve purposeful use of the hands for activities such as dressing and feeding. If repetitive arm and hand movements are a problem, splints that restrict elbow or wrist motion may be helpful. […] Speech-language therapy. Speech-language therapy can help improve a child’s life by teaching nonverbal ways of communicating and helping with social interaction. […] Nutritional support. Proper nutrition is extremely important for healthy growth and for improved mental, physical and social abilities. A high-calorie, well-balanced diet may be recommended. Feeding strategies to prevent choking or vomiting are important. Some children and adults may need to be fed through a tube placed directly into the stomach (gastrostomy).

• #22 Enhancing Care for Rett Syndrome | Children’s Hospital Los Angeles

  https://www.chla.org/blog/experts/care-innovation/enhancing-care-rett-syndrome

  The Neurological Institute also offers world-class expertise in epilepsy and seizure control, as well as movement disorders. […] Another common issue is sleep disturbances and sleep-disordered breathing. […] In addition, the team is giving families opportunities at the clinics to try out eye gaze tracking devices. […] Eye gaze tracking can really open a door and be a very effective form of communication for girls with Rett syndrome who dont have the ability for verbal speech and cant control their hand movements, says Dr. Gu. […] One of the teams long-term goals is to help educate more pediatricians and general neurologists in the community about Rett Syndrome. […] Often, the biggest barrier for families is getting a diagnosis, Dr. Gu notes. […] That early genetic diagnosis can make a difference in the treatments that can then help improve a childs quality of life.

• #23 Enhancing Care for Rett Syndrome | Children’s Hospital Los Angeles

  https://www.chla.org/blog/experts/care-innovation/enhancing-care-rett-syndrome

  The Neurological Institute also offers world-class expertise in epilepsy and seizure control, as well as movement disorders. […] Another common issue is sleep disturbances and sleep-disordered breathing. […] In addition, the team is giving families opportunities at the clinics to try out eye gaze tracking devices. […] Eye gaze tracking can really open a door and be a very effective form of communication for girls with Rett syndrome who dont have the ability for verbal speech and cant control their hand movements, says Dr. Gu. […] One of the teams long-term goals is to help educate more pediatricians and general neurologists in the community about Rett Syndrome. […] Often, the biggest barrier for families is getting a diagnosis, Dr. Gu notes. […] That early genetic diagnosis can make a difference in the treatments that can then help improve a childs quality of life.

• #24 Managing Rett Care | International Rett Syndrome Foundation

  https://www.rettsyndrome.org/about-rett-syndrome/managing-rett-care/

  Working with a knowledgeable care team is essential for developing an effective care plan. […] Connecting with a specialized clinic can provide valuable insights and support for managing Rett syndrome. Our Center of Excellence clinic network brings this collaborative care model to families, offering guidance from Rett experts and specialized care in one place to help navigate every step of the journey. […] The Rett Syndrome Communication Guidelines provide essential strategies to enhance communication for individuals and their care teams. These guidelines and the accompanying continuing education program for providers give parents, caregivers, and educators the power to create inclusive environments where every child’s voice is valued. […] Connecting with a clinic designated as a Center of Excellence can ensure that individuals receive the highest quality of care tailored to their needs. These clinics specialize in Rett syndrome, providing comprehensive resources and support.

• #25 Rett syndrome | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/rett-syndrome

  Rett syndrome may cause speech problems (such as inability to learn to speak, or loss of speech), difficulty walking or loss of the ability to walk, and loss of purposeful hand use. Females with Rett syndrome need a variety of therapies to help them with movement and communication. […] There is no cure for Rett syndrome, but therapy can help slow the progress of movement loss. Therapies include: physiotherapy to prevent deformities of the joints and to improve movement, occupational therapy to improve hand use, horseback riding, music therapy, hydrotherapy (exercise in water), other environmental enrichment activities. […] Children with Rett syndrome have a keen desire to communicate. Methods for communication may include: touch, pictures and letters, word boards, eye gaze, via the use of computer-related devices such as My Tobii and iPad, switch-operated voice output devices.

• #26 Rett syndrome – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/rett-syndrome/diagnosis-treatment/drc-20377233

  Physical therapy. Physical therapy and the use of braces or casts can help children who have scoliosis or require hand or joint support. In some cases, physical therapy can also help maintain movement, create a proper sitting position, and improve walking skills, balance and flexibility. Assistive devices such as a walker or wheelchair may be helpful. […] Occupational therapy. Occupational therapy may improve purposeful use of the hands for activities such as dressing and feeding. If repetitive arm and hand movements are a problem, splints that restrict elbow or wrist motion may be helpful. […] Speech-language therapy. Speech-language therapy can help improve a child’s life by teaching nonverbal ways of communicating and helping with social interaction. […] Nutritional support. Proper nutrition is extremely important for healthy growth and for improved mental, physical and social abilities. A high-calorie, well-balanced diet may be recommended. Feeding strategies to prevent choking or vomiting are important. Some children and adults may need to be fed through a tube placed directly into the stomach (gastrostomy).

• #27 Rett Syndrome Treatment & Management: Approach Considerations, Pharmacologic Therapy, Nonpharmacologic Therapy

  https://emedicine.medscape.com/article/916377-treatment

  To maximize the abilities of patients with Rett syndrome (RS) requires the adoption of a comprehensive team approach. […] If an RS patient cannot manage oral intake of food, a gastrostomy tube may be placed to minimize the risk of aspiration or recurrent pneumonias. Many girls with RS may experience significant somatic growth failure. Female RS patients aged 4-8 years may demonstrate poor or no weight gain despite apparently adequate caloric intake. In such cases, supplemental feeding is warranted, either orally or via a gastrostomy tube. […] Optimal management of RS involves early multidisciplinary evaluation and treatment, including communication assessment, oral motor assessment, and various other assessments and therapies. […] Feeding disorders occur in more than 80% of RS patients aged 4-8 years. Causative factors include abnormal tongue movements and tone, skeletal misalignment, and rigidity, underscoring the importance of oral motor assessment. Treatments may range from simple positioning and rigidity-decreasing therapy to more complex interventions.

• #28 Rett Syndrome Treatment & Management: Approach Considerations, Pharmacologic Therapy, Nonpharmacologic Therapy

  https://emedicine.medscape.com/article/916377-treatment

  To maximize the abilities of patients with Rett syndrome (RS) requires the adoption of a comprehensive team approach. […] If an RS patient cannot manage oral intake of food, a gastrostomy tube may be placed to minimize the risk of aspiration or recurrent pneumonias. Many girls with RS may experience significant somatic growth failure. Female RS patients aged 4-8 years may demonstrate poor or no weight gain despite apparently adequate caloric intake. In such cases, supplemental feeding is warranted, either orally or via a gastrostomy tube. […] Optimal management of RS involves early multidisciplinary evaluation and treatment, including communication assessment, oral motor assessment, and various other assessments and therapies. […] Feeding disorders occur in more than 80% of RS patients aged 4-8 years. Causative factors include abnormal tongue movements and tone, skeletal misalignment, and rigidity, underscoring the importance of oral motor assessment. Treatments may range from simple positioning and rigidity-decreasing therapy to more complex interventions.

• #29 Rett syndrome – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/rett-syndrome/diagnosis-treatment/drc-20377233

  Physical therapy. Physical therapy and the use of braces or casts can help children who have scoliosis or require hand or joint support. In some cases, physical therapy can also help maintain movement, create a proper sitting position, and improve walking skills, balance and flexibility. Assistive devices such as a walker or wheelchair may be helpful. […] Occupational therapy. Occupational therapy may improve purposeful use of the hands for activities such as dressing and feeding. If repetitive arm and hand movements are a problem, splints that restrict elbow or wrist motion may be helpful. […] Speech-language therapy. Speech-language therapy can help improve a child’s life by teaching nonverbal ways of communicating and helping with social interaction. […] Nutritional support. Proper nutrition is extremely important for healthy growth and for improved mental, physical and social abilities. A high-calorie, well-balanced diet may be recommended. Feeding strategies to prevent choking or vomiting are important. Some children and adults may need to be fed through a tube placed directly into the stomach (gastrostomy).

• #30 Rett Syndrome | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/rett-syndrome

  Special educational support […] Psychosocial support for the child and family, including the Division of Neurology’s dedicated social workers, access to support groups and programs such as Sibshops, and connection to national support organizations […] Nutritional support in the form of supplements, tube feedings, or specialized diets […] Medications to treat specific symptoms such as seizures, spasticity and muscle rigidity, GI abnormalities, breathing problems and others. […] Children with Rett syndrome are also at increased risk of developing scoliosis and cardiac arrhythmia both of which may require additional treatment. […] At Children’s Hospital, we continue to adjust our approach to care for children with Rett syndrome based on the latest research findings and treatment approaches.

• #31 Rett Syndrome Treatment & Management: Approach Considerations, Pharmacologic Therapy, Nonpharmacologic Therapy

  https://emedicine.medscape.com/article/916377-treatment

  To maximize the abilities of patients with Rett syndrome (RS) requires the adoption of a comprehensive team approach. […] If an RS patient cannot manage oral intake of food, a gastrostomy tube may be placed to minimize the risk of aspiration or recurrent pneumonias. Many girls with RS may experience significant somatic growth failure. Female RS patients aged 4-8 years may demonstrate poor or no weight gain despite apparently adequate caloric intake. In such cases, supplemental feeding is warranted, either orally or via a gastrostomy tube. […] Optimal management of RS involves early multidisciplinary evaluation and treatment, including communication assessment, oral motor assessment, and various other assessments and therapies. […] Feeding disorders occur in more than 80% of RS patients aged 4-8 years. Causative factors include abnormal tongue movements and tone, skeletal misalignment, and rigidity, underscoring the importance of oral motor assessment. Treatments may range from simple positioning and rigidity-decreasing therapy to more complex interventions.

• #32 Rett Syndrome Treatment & Management: Approach Considerations, Pharmacologic Therapy, Nonpharmacologic Therapy

  https://emedicine.medscape.com/article/916377-treatment

  To maximize the abilities of patients with Rett syndrome (RS) requires the adoption of a comprehensive team approach. […] If an RS patient cannot manage oral intake of food, a gastrostomy tube may be placed to minimize the risk of aspiration or recurrent pneumonias. Many girls with RS may experience significant somatic growth failure. Female RS patients aged 4-8 years may demonstrate poor or no weight gain despite apparently adequate caloric intake. In such cases, supplemental feeding is warranted, either orally or via a gastrostomy tube. […] Optimal management of RS involves early multidisciplinary evaluation and treatment, including communication assessment, oral motor assessment, and various other assessments and therapies. […] Feeding disorders occur in more than 80% of RS patients aged 4-8 years. Causative factors include abnormal tongue movements and tone, skeletal misalignment, and rigidity, underscoring the importance of oral motor assessment. Treatments may range from simple positioning and rigidity-decreasing therapy to more complex interventions.

• #33 Rett syndrome – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/rett-syndrome/diagnosis-treatment/drc-20377233

  Although there is no cure for Rett syndrome, treatments address symptoms and provide support. These may improve the potential for movement, communication and social participation. The need for treatment and support doesn’t end as children become older it’s usually necessary throughout life. Treating Rett syndrome requires a team approach. […] Treatments that can help children and adults with Rett syndrome include: […] Regular medical care. Management of symptoms and health problems may require a multispecialty team. Regular monitoring of physical changes such as scoliosis, gastrointestinal (GI) issues and heart problems is needed. […] Medications. Though medications can’t cure Rett syndrome, they may help control some signs and symptoms that are part of the disorder. Medications may help with seizures, muscle stiffness, or problems with breathing, sleep, the gastrointestinal (GI) tract or the heart.

• #34 Treatment and Symptom Management for Rett Syndrome

  https://www.ajmc.com/view/treatment-and-symptom-management-for-rett-syndrome

  David Lieberman, MD, PhD: Goals of treatment at present are to reduce symptom severity. The way we do that is by tackling each symptom in and of itself, for the most part. When the patient has constipation, we give them osmotic laxatives or stimulant laxatives. When they have gastroesophageal reflux, you might give them proton pump inhibitors. We treat their seizures with antiepileptic medications. If they have problems with sleep, we give them medications that help to induce and prolong sleep. The average patient can be on 5 to 10 medications [to treat] all these various symptoms. Importantly, we dont have any drugs available at present that treat the core symptoms of Rett syndrome. Although I can help a patients constipation, I cant think of a drug to give a patient to improve their communication or their hand use, or reduce their stereotypies or help them walk. Those core features arent amenable to current treatments. Fortunately, there have been several recent trials in Rett syndrome using pharmaceutical compounds. Perhaps now [there will be] gene therapy approaches [where] we might see improvements in some of these core features.

• #35 Rett Syndrome Treatment & Management: Approach Considerations, Pharmacologic Therapy, Nonpharmacologic Therapy

  https://emedicine.medscape.com/article/916377-treatment

  Issues that may have to be addressed in long-term management of RS include the following: Agitation and screaming, Sleep disturbances, Constipation, Scoliosis, Osteopenia with possible fractures, Birth control. […] For management of sleep disturbances in RS, short-acting nonbenzodiazepine receptor agonists (eg, zaleplon and zolpidem) may be helpful without exerting untoward effects on daytime functioning. Other approaches to sleep problems have included the administration of melatonin 2.5-7.5 mg and the application of behavioral techniques. […] Scoliosis occurs in more than 50% of RS patients, usually between the ages of 8 and 11 years. It may progress rapidly, especially if early hypotonia, dystonia, or loss of ambulation is present. Close monitoring is necessary to determine whether bracing or surgery is needed.

• #36 Rett Syndrome Treatment & Management: Approach Considerations, Pharmacologic Therapy, Nonpharmacologic Therapy

  https://emedicine.medscape.com/article/916377-treatment

  Issues that may have to be addressed in long-term management of RS include the following: Agitation and screaming, Sleep disturbances, Constipation, Scoliosis, Osteopenia with possible fractures, Birth control. […] For management of sleep disturbances in RS, short-acting nonbenzodiazepine receptor agonists (eg, zaleplon and zolpidem) may be helpful without exerting untoward effects on daytime functioning. Other approaches to sleep problems have included the administration of melatonin 2.5-7.5 mg and the application of behavioral techniques. […] Scoliosis occurs in more than 50% of RS patients, usually between the ages of 8 and 11 years. It may progress rapidly, especially if early hypotonia, dystonia, or loss of ambulation is present. Close monitoring is necessary to determine whether bracing or surgery is needed.

• #37 New Therapy Improves Lives of Girls and Women with Rett Syndrome | UC San Francisco

  https://www.ucsf.edu/news/2024/06/427876/new-therapy-improves-lives-girls-and-women-rett-syndrome

  Emilianas parents met with numerous doctors to figure out what was wrong. […] Katies Clinic provides a team approach to the multifaceted needs of patients. Treatments are led by a neurologist with help from a pediatric nurse practitioner who coordinate care. […] At Katies Clinic, we help families navigate getting their children the best care possible, said Jennifer Martelle Tu, MD, pediatric neurologist and director of Katies Clinic. […] One groundbreaking treatment they prescribe is Daybue, the first and only medication for Rett Syndrome. […] Daybue makes it possible to get more signals out of the brain and enables patients to be more alert, aware and engaged, Tu said. […] Emiliana started taking Daybue in August, and her parents already see incredible improvements. […] Since beginning the Daybue treatment, Emiliana has made major improvements in being able to navigate her home, such as using stairs and the assisted communication technologies around the house. […] With Daybue, were also hopeful shell be able to feed herself and continue to walk. […] The Gialle family and Katies Clinic team are optimistic about Emilianas future and that of other Rett Syndrome patients around the world.

• #38 Rett syndrome | Conditions | UCSF Benioff Children’s Hospitals

  https://www.ucsfbenioffchildrens.org/conditions/rett-syndrome

  Rett syndrome is a rare neurological disorder caused by a genetic mutation that disrupts cellular processes throughout the body, with significant effects on brain development. […] Care for Rett syndrome typically involves addressing individual symptoms to improve overall quality of life. While treatments vary based on each patient’s needs, they may include medications to alleviate seizures; anxiety; or problems with breathing, sleep or digestion. Physical therapy, speech therapy and nutritional counseling also can help patients achieve the best possible outcomes, including by maximizing their vocabulary and their ability to walk without falling. […] In addition, our clinic offers trofinetide (Daybue), the first targeted medical treatment for Rett Syndrome, which was approved by the Food and Drug Administration (FDA) in 2023. This medication, which acts on the brain pathways affected by the MECP2 gene mutation, reduces inflammation in the brain, stopping certain types of cells from becoming overactive and increasing the amount of insulin-like growth factor 1 (IGF-1), a naturally occurring protein involved in growth and development.

• #39 Rett syndrome | Conditions | UCSF Benioff Children’s Hospitals

  https://www.ucsfbenioffchildrens.org/conditions/rett-syndrome

  Trofinetide can help in a variety of ways, such as improving verbal skills or walking ability, depending on the patient’s symptoms. Because it impacts brain processes related to development, trofinetide may be most helpful if taken early in the course of Rett syndrome, but more research is needed to understand which patients are most likely to benefit. Research is also underway to explore other gene therapies that target the MECP2 gene.

• #40 Rett Syndrome Treatment & Management: Approach Considerations, Pharmacologic Therapy, Nonpharmacologic Therapy

  https://emedicine.medscape.com/article/916377-treatment

  Issues that may have to be addressed in long-term management of RS include the following: Agitation and screaming, Sleep disturbances, Constipation, Scoliosis, Osteopenia with possible fractures, Birth control. […] For management of sleep disturbances in RS, short-acting nonbenzodiazepine receptor agonists (eg, zaleplon and zolpidem) may be helpful without exerting untoward effects on daytime functioning. Other approaches to sleep problems have included the administration of melatonin 2.5-7.5 mg and the application of behavioral techniques. […] Scoliosis occurs in more than 50% of RS patients, usually between the ages of 8 and 11 years. It may progress rapidly, especially if early hypotonia, dystonia, or loss of ambulation is present. Close monitoring is necessary to determine whether bracing or surgery is needed.

• #41 Rett Syndrome Treatment & Management: Approach Considerations, Pharmacologic Therapy, Nonpharmacologic Therapy

  https://emedicine.medscape.com/article/916377-treatment

  Issues that may have to be addressed in long-term management of RS include the following: Agitation and screaming, Sleep disturbances, Constipation, Scoliosis, Osteopenia with possible fractures, Birth control. […] For management of sleep disturbances in RS, short-acting nonbenzodiazepine receptor agonists (eg, zaleplon and zolpidem) may be helpful without exerting untoward effects on daytime functioning. Other approaches to sleep problems have included the administration of melatonin 2.5-7.5 mg and the application of behavioral techniques. […] Scoliosis occurs in more than 50% of RS patients, usually between the ages of 8 and 11 years. It may progress rapidly, especially if early hypotonia, dystonia, or loss of ambulation is present. Close monitoring is necessary to determine whether bracing or surgery is needed.

• #42 Rett Syndrome Treatment & Management: Approach Considerations, Pharmacologic Therapy, Nonpharmacologic Therapy

  https://emedicine.medscape.com/article/916377-treatment

  Issues that may have to be addressed in long-term management of RS include the following: Agitation and screaming, Sleep disturbances, Constipation, Scoliosis, Osteopenia with possible fractures, Birth control. […] For management of sleep disturbances in RS, short-acting nonbenzodiazepine receptor agonists (eg, zaleplon and zolpidem) may be helpful without exerting untoward effects on daytime functioning. Other approaches to sleep problems have included the administration of melatonin 2.5-7.5 mg and the application of behavioral techniques. […] Scoliosis occurs in more than 50% of RS patients, usually between the ages of 8 and 11 years. It may progress rapidly, especially if early hypotonia, dystonia, or loss of ambulation is present. Close monitoring is necessary to determine whether bracing or surgery is needed.

• #43 Rett syndrome

  https://www.nhs.uk/conditions/rett-syndrome/

  There’s no cure for Rett syndrome, so treatment focuses on managing the symptoms. […] As a parent caring for a child with the syndrome, it’s likely you’ll need help and support from a wide range of healthcare professionals. […] Your child may benefit from some of the following treatments and aids: speech and language therapy, picture boards, eye gaze technology and other visual aids to help with communication, or ways to help them communicate such as Signalong, Makaton or PECS […] medicine for breathing and mobility problems, and anti-epileptic medicine to control seizures […] physiotherapy, attention to mobility, careful attention to your child’s sitting posture (to minimise the chances of scoliosis developing), and frequent changes in posture […] if scoliosis does become established, a back brace and sometimes spinal surgery may be used to prevent the spine curving further

• #44 Rett syndrome

  https://www.nhs.uk/conditions/rett-syndrome/

  a high-calorie, low carbohydrate (ketogenic) diet to help maintain sufficient weight and help control seizures, with the use of a feeding tube and other feeding aids if necessary […] occupational therapy to help develop the skills needed for dressing, feeding and other daily activities […] an ankle-foot orthosis (lower leg brace) to help them walk independently […] a hand splint to help control severe hand movements (they’re mainly used for limited periods to prevent self-injury or to encourage activities with the other hand). […] Therapeutic horse riding, swimming, hydrotherapy and music therapy have also been reported to be beneficial. Ask your healthcare team where you can access these therapies. […] Although some people with Rett syndrome may retain a degree of hand control, walking ability and communication skills, most will be dependent on 24-hour care throughout their lives.

• #45 Rett’s Syndrome: Symptoms and Treatment | Doctor

  https://patient.info/doctor/rett-syndrome

  The patient’s home may need adaptations and aids to improve mobility and safety. […] Mobility aids […] These include aids such as: […] Hinged ankle-foot orthoses to overcome hypertonia, which may help maintain independent walking. […] Hand splints that prevent the stereotyped hand movements, can reduce self-injury and agitation where they are particularly severe. […] Possible future therapy […] Research continues to assess the potential of gene editing or gene replacement therapy for the management of Rett syndrome.

• #46 Rett Care Plan | Rett Revealed

  https://www.rettrevealed.com/rett-care-plan/

  Physical therapy (PT) can enhance your child’s physical fitness and function and help reduce the dangers of becoming unable to move (immobility). […] Music therapy (MT) can improve functional hand use, develop the possibilities for making choices, enhance nonverbal communication, attention, and eye contact, relax and soothe, and help express emotions and feelings. […] Speech-language therapy (ST) can increase the ability for your child to use Assistive Augmentative Communication (AAC) devices, address difficulty with movements (apraxia), and help with basic motor challenges involved with eating. […] Occupational therapy (OT) provides ways to help your child increase the use of their hands and body by adapting the child’s environment, improving their ability to control their own world.

• #47 Multidisciplinary Management of Rett Syndrome: Twenty Years’ Experience

  https://www.mdpi.com/2073-4425/14/8/1607

  The management of bruxism in RTT is mainly conservative. […] Physiotherapy intervention is recommended to encourage greater independence with ambulation, reduce agitation and prevent the development or worsening of contractures and other secondary musculoskeletal complications. […] Music therapy has been shown to improve cognitive and physical development. […] Gastrostomy feeding tube placement may be indicated for nutritional support, as occurred in 23% of our population. […] The results of this study highlight the usefulness of our clinical model based on multidisciplinary management aimed at preserving and/or prolonging independence in mobility, feeding and communication.

• #48 Rett Care Plan | Rett Revealed

  https://www.rettrevealed.com/rett-care-plan/

  Hydrotherapy (HT) presents the pleasant surroundings of warm water while reducing muscle tightness (from prolonged muscle contractions, called spasticity) and softening rigid tissues. […] Students with Rett syndrome should have access to an education that will enable them to develop the knowledge and skills they need to participate in society to their fullest ability. […] Medications may be useful for managing symptoms that interfere or cause trouble in your child’s daily life (like constipation, seizures, and osteoporosis). […] Small improvements in Rett symptoms through different therapies over time could lead to an overall, healthier physical and emotional well-being for both you and your child. […] Different therapeutic approaches, like music therapy, hippotherapy (where a therapist uses a horse as a „live” treatment tool), and adaptive activities, can help your child living with Rett develop new ways to express themself and build new skills.

• #49 Rett Syndrome in Children | Phoenix Children’s Hospital

  https://phoenixchildrens.org/specialties-conditions/rett-syndrome-children

  Rett syndrome is a rare genetic developmental and neurological disorder. […] But they need ongoing care and supervision. […] Treatment focuses on managing symptoms, slowing down the loss of abilities, and helping with communication. Treatment may include: […] Physical therapy may help a child maintain or improve their mobility. Hydrotherapy is physical therapy thats done in water. […] Occupational therapy. This type of therapy can help with skills like getting dressed and feeding. It can also help reduce uncontrolled hand movements. […] A speech-language pathologist can help with communication issues. […] Your child will need regular evaluations to check for scoliosis and any heart problems. […] Eating a healthy diet can help manage symptoms and keep your child at an appropriate weight.

• #50 Rett Care Plan | Rett Revealed

  https://www.rettrevealed.com/rett-care-plan/

  Hydrotherapy (HT) presents the pleasant surroundings of warm water while reducing muscle tightness (from prolonged muscle contractions, called spasticity) and softening rigid tissues. […] Students with Rett syndrome should have access to an education that will enable them to develop the knowledge and skills they need to participate in society to their fullest ability. […] Medications may be useful for managing symptoms that interfere or cause trouble in your child’s daily life (like constipation, seizures, and osteoporosis). […] Small improvements in Rett symptoms through different therapies over time could lead to an overall, healthier physical and emotional well-being for both you and your child. […] Different therapeutic approaches, like music therapy, hippotherapy (where a therapist uses a horse as a „live” treatment tool), and adaptive activities, can help your child living with Rett develop new ways to express themself and build new skills.

• #51 Rett’s Syndrome: Symptoms and Treatment | Doctor

  https://patient.info/doctor/rett-syndrome

  Supplemental feeding by nasogastric or gastrostomy routes may be used. […] If medical therapy for gastro-oesophageal reflux is ineffective, then surgical procedures such as fundoplication may be useful. […] Constipation can be a problem and should be monitored and managed carefully. […] Communication […] This may be difficult; however, non-verbal means should be assessed, explored and enhanced as much as possible: […] The use of picture boards and other visual aids to communication can be very helpful. […] Holistic therapy […] This is thought to help some patients and appears to be popular with them and their families: […] Hydrotherapy, massage and horse riding have been used to help patients and their families cope with this condition. […] Families need empathetic social and sometimes psychological support; advice and advocacy for interactions with educational authorities can be beneficial.

• #52 Rett Care Plan | Rett Revealed

  https://www.rettrevealed.com/rett-care-plan/

  Hydrotherapy (HT) presents the pleasant surroundings of warm water while reducing muscle tightness (from prolonged muscle contractions, called spasticity) and softening rigid tissues. […] Students with Rett syndrome should have access to an education that will enable them to develop the knowledge and skills they need to participate in society to their fullest ability. […] Medications may be useful for managing symptoms that interfere or cause trouble in your child’s daily life (like constipation, seizures, and osteoporosis). […] Small improvements in Rett symptoms through different therapies over time could lead to an overall, healthier physical and emotional well-being for both you and your child. […] Different therapeutic approaches, like music therapy, hippotherapy (where a therapist uses a horse as a „live” treatment tool), and adaptive activities, can help your child living with Rett develop new ways to express themself and build new skills.

• #53 Rett syndrome | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/rett-syndrome

  Most children with Rett syndrome attend specialist schools; some may attend a mixture of specialist and mainstream school, and some just mainstream. They need: early exposure to toys and music, age- and developmentally-appropriate activities, a school environment that provides strong motivation. […] If your child has been diagnosed with Rett syndrome it may be helpful to speak to a genetic counsellor. Genetic counsellors are health professionals qualified in both counselling and genetics. As well as providing emotional support, they can help you to understand Rett syndrome and what causes it, how it is inherited, and what a diagnosis means for your child’s health and development. Genetic counsellors are trained to provide information and support that is sensitive to your family circumstances, culture and beliefs.

• #54 Rett syndrome | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/rett-syndrome

  Most children with Rett syndrome attend specialist schools; some may attend a mixture of specialist and mainstream school, and some just mainstream. They need: early exposure to toys and music, age- and developmentally-appropriate activities, a school environment that provides strong motivation. […] If your child has been diagnosed with Rett syndrome it may be helpful to speak to a genetic counsellor. Genetic counsellors are health professionals qualified in both counselling and genetics. As well as providing emotional support, they can help you to understand Rett syndrome and what causes it, how it is inherited, and what a diagnosis means for your child’s health and development. Genetic counsellors are trained to provide information and support that is sensitive to your family circumstances, culture and beliefs.

• #55 Rett syndrome: Treatment and prognosis – UpToDate

  https://www.uptodate.com/contents/rett-syndrome-treatment-and-prognosis

  Support of a comprehensive educational program for RTT individuals may require completing forms, informing teachers and therapists about RTT, and promoting a communication program rather than speech therapy alone. Since expected survival in RTT is beyond the fifth decade, issues pertaining to adulthood and adult health care should be discussed with the family and guardians, including identification of appropriate health care providers for children and adults with RTT, guardianship, and long-term financial planning. […] Individuals with RTT are totally dependent for all activities of living throughout their life. In our experience, most individuals with RTT live at home even as adults. Clinicians have long recognized the life-long burden of RTT on families and caregivers, but there are few systematic studies investigating caregiver burden. Careful monitoring of the ability of older parents to care for their adult children with RTT is important to parental health and supports the care of those older individuals with RTT. One study found that caregiver burden increased as caregiver health declined. There was a stronger association between the caregiver burden and parental health than with demands related to the individual with RTT. Another report found that mothers of individuals with RTT had lower physical and mental health scores compared with standard average scores. These studies highlight the importance of assessing the physical and mental well-being of RTT caregivers. Encouraging parents to take „time off” and utilize respite care are important to their mental and physical health.

• #56 Multidisciplinary Approach to Treat Rett Syndrome | myCME

  https://www.mycme.com/courses/rett-syndrome-multidisciplinary-approach-patient-care-9600

  With newer therapies now available for the treatment of Rett syndrome, it is essential that the challenges of managing patients with rare diseases, such as Rett syndrome in resource-poor areas or “care deserts” be addressed. […] These experts will also review the need for lifelong, multidisciplinary team-based care for Rett syndrome patients, and share practical strategies to improve care access for patients who may not have geographic access. […] Upon completion of the educational activity, participants should be able to: […] Summarize the components of the multidisciplinary approach for Rett syndrome […] Discuss the need for enhanced neurologist-gastroenterologist collaborations for optimal adverse-event monitoring and management […] Apply relevant strategies to facilitate team-based care in Rett syndrome in the community settings […] Recognize where new treatments fit in the multidisciplinary care of Rett syndrome.

• #57 Rett syndrome

  https://www.nhs.uk/conditions/rett-syndrome/

  Many people with Rett syndrome reach adulthood, and those who are less severely affected can live into old age. However, some people die at a fairly young age as a result of complications, such as heart rhythm abnormalities, pneumonia and epilepsy. […] Caring for a child with Rett syndrome is mentally and physically challenging. Most carers will need social and psychological support.

• #58 Rett Syndrome: Symptoms, Causes, and Treatment Options

  https://www.webmd.com/brain/autism/rett-syndrome

  This can boost your child’s ability to use their hands to do things such as putting on clothes and feeding themselves. […] Work with your child’s doctor to make sure they’re eating a balanced diet, which is important for healthy growth and better mental, physical, and social skills. […] You can look into early intervention programs as well as school, social, and job-training services for your child. […] Each child with RTT will have different symptoms. Some may have a mild version of the disorder, while others have it more severely. […] It’s likely that your child will need help with feeding, bathing, dressing, and going to the toilet, but may eventually be able to do some of these things for themselves. […] Many girls with Rett syndrome can live at least into middle age. The leading cause of death is cardiorespiratory issues (issues with the heart and lungs). […] Support groups for parents and other caregivers of children with RTT can be very helpful, especially since the disease is so rare and you may not know of another person with it in your circles.

• #59 Rett Care Plan | Rett Revealed

  https://www.rettrevealed.com/rett-care-plan/

  The need for therapy and support doesn’t end as your child gets older. And children with Rett syndrome can (and do) live well into adulthood. You may have a lot of questions of what life will look like as they enter puberty and eventually transition to family-centered adult medical care. […] The International Rett Syndrome Foundation (IRSF) empowers families with information, knowledge, and connectivity.

• #60 Rett syndrome | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/rett-syndrome

  Most children with Rett syndrome attend specialist schools; some may attend a mixture of specialist and mainstream school, and some just mainstream. They need: early exposure to toys and music, age- and developmentally-appropriate activities, a school environment that provides strong motivation. […] If your child has been diagnosed with Rett syndrome it may be helpful to speak to a genetic counsellor. Genetic counsellors are health professionals qualified in both counselling and genetics. As well as providing emotional support, they can help you to understand Rett syndrome and what causes it, how it is inherited, and what a diagnosis means for your child’s health and development. Genetic counsellors are trained to provide information and support that is sensitive to your family circumstances, culture and beliefs.

• #61 Rett syndrome: Treatment and prognosis – UpToDate

  https://www.uptodate.com/contents/rett-syndrome-treatment-and-prognosis

  Support of a comprehensive educational program for RTT individuals may require completing forms, informing teachers and therapists about RTT, and promoting a communication program rather than speech therapy alone. Since expected survival in RTT is beyond the fifth decade, issues pertaining to adulthood and adult health care should be discussed with the family and guardians, including identification of appropriate health care providers for children and adults with RTT, guardianship, and long-term financial planning. […] Individuals with RTT are totally dependent for all activities of living throughout their life. In our experience, most individuals with RTT live at home even as adults. Clinicians have long recognized the life-long burden of RTT on families and caregivers, but there are few systematic studies investigating caregiver burden. Careful monitoring of the ability of older parents to care for their adult children with RTT is important to parental health and supports the care of those older individuals with RTT. One study found that caregiver burden increased as caregiver health declined. There was a stronger association between the caregiver burden and parental health than with demands related to the individual with RTT. Another report found that mothers of individuals with RTT had lower physical and mental health scores compared with standard average scores. These studies highlight the importance of assessing the physical and mental well-being of RTT caregivers. Encouraging parents to take „time off” and utilize respite care are important to their mental and physical health.

• #62 Rett syndrome: Treatment and prognosis – UpToDate

  https://www.uptodate.com/contents/rett-syndrome-treatment-and-prognosis

  Support of a comprehensive educational program for RTT individuals may require completing forms, informing teachers and therapists about RTT, and promoting a communication program rather than speech therapy alone. Since expected survival in RTT is beyond the fifth decade, issues pertaining to adulthood and adult health care should be discussed with the family and guardians, including identification of appropriate health care providers for children and adults with RTT, guardianship, and long-term financial planning. […] Individuals with RTT are totally dependent for all activities of living throughout their life. In our experience, most individuals with RTT live at home even as adults. Clinicians have long recognized the life-long burden of RTT on families and caregivers, but there are few systematic studies investigating caregiver burden. Careful monitoring of the ability of older parents to care for their adult children with RTT is important to parental health and supports the care of those older individuals with RTT. One study found that caregiver burden increased as caregiver health declined. There was a stronger association between the caregiver burden and parental health than with demands related to the individual with RTT. Another report found that mothers of individuals with RTT had lower physical and mental health scores compared with standard average scores. These studies highlight the importance of assessing the physical and mental well-being of RTT caregivers. Encouraging parents to take „time off” and utilize respite care are important to their mental and physical health.

• #63 Rett syndrome: Treatment and prognosis – UpToDate

  https://www.uptodate.com/contents/rett-syndrome-treatment-and-prognosis

  Support of a comprehensive educational program for RTT individuals may require completing forms, informing teachers and therapists about RTT, and promoting a communication program rather than speech therapy alone. Since expected survival in RTT is beyond the fifth decade, issues pertaining to adulthood and adult health care should be discussed with the family and guardians, including identification of appropriate health care providers for children and adults with RTT, guardianship, and long-term financial planning. […] Individuals with RTT are totally dependent for all activities of living throughout their life. In our experience, most individuals with RTT live at home even as adults. Clinicians have long recognized the life-long burden of RTT on families and caregivers, but there are few systematic studies investigating caregiver burden. Careful monitoring of the ability of older parents to care for their adult children with RTT is important to parental health and supports the care of those older individuals with RTT. One study found that caregiver burden increased as caregiver health declined. There was a stronger association between the caregiver burden and parental health than with demands related to the individual with RTT. Another report found that mothers of individuals with RTT had lower physical and mental health scores compared with standard average scores. These studies highlight the importance of assessing the physical and mental well-being of RTT caregivers. Encouraging parents to take „time off” and utilize respite care are important to their mental and physical health.

• #64 IRSF Resource Library | International Rett Syndrome Foundation

  https://www.rettsyndrome.org/resource-library/

  My Rett Ally is a free web app made exclusively for the Rett community that helps you simplify, organize and share your child’s most important medical care information all in one safe place. Features include an organized medical journal, customizable tracking categories, and document storage system. Download […] Developed in collaboration with Rett syndrome experts throughout the U.S., the Rett Syndrome: Comprehensive Care Guidelines are intended to be used to support a meaningful partnership between caregivers and the physicians, nurses, and therapists who are involved in the care of your loved one with Rett syndrome. This is a medical resource, intended for families to share with their providers, to ensure their loved one is receiving care that is recommended by leading Rett syndrome experts.

• #65 My Rett Ally: Revolutionizing Care Management for Rett Families | International Rett Syndrome Foundation

  https://www.rettsyndrome.org/aboutmyrettally/

  My Rett Ally: Revolutionizing Care Management for Rett Families […] Samantha, like all families with a loved one with Rett, must keep meticulous records of health documents to ensure the best possible care for her child. […] My Rett Ally is the place to record all those special little intricate details like the fact that you give your child her seizure medicine with chocolate pudding that you’re never going to see on a medical chart, Samantha said. […] My Rett Ally puts you in control of all your child’s information so you can get them the best possible care. […] Learning that your child has Rett syndrome is absolutely overwhelming, she said. […] Being able to present My Rett Ally as a tool that they can immediately implement and have complete control over has been a game-changer. […] We hope that this app continues to help many families provide the best possible care for their loved one.

• #66 Rett Care Plan | Rett Revealed

  https://www.rettrevealed.com/rett-care-plan/

  The need for therapy and support doesn’t end as your child gets older. And children with Rett syndrome can (and do) live well into adulthood. You may have a lot of questions of what life will look like as they enter puberty and eventually transition to family-centered adult medical care. […] The International Rett Syndrome Foundation (IRSF) empowers families with information, knowledge, and connectivity.

• #67 Living with Rett | International Rett Syndrome Foundation

  https://www.rettsyndrome.org/families/living-with-rett/

  Transitioning from pediatric to adult care is a significant milestone, and securing guardianship or conservatorship can help ensure their needs are met. […] Routine health and dental check-ups remain essential to their overall wellness. […] Finding the right care for your child with Rett syndrome can make a world of difference. […] These clinics provide comprehensive, coordinated care to support your childs health and well-being while helping you navigate the complexities of their needs with confidence.

• #68 Adults With Rett Require Tailored Care Management Program, Study SaysEnvelope icon

  https://rettsyndromenews.com/news/adults-with-rett-require-tailored-care-program-to-manage-symptoms-study-says/

  The transition into adulthood of women with Rett syndrome warrants a tailored program and a multidisciplinary team to provide the best clinical care, according to a 13-year Italian study of the complex symptoms experienced by these patients. […] Most adults with Rett deal with symptoms ranging from epilepsy and bone density problems to gastrointestinal issues and sometimes sleep and behavior difficulties. […] Although large studies have reported that most Rett patients reach middle age, little research has focused on adults with the disorder and the care they need. […] Based on these findings, the researchers defined a set of surveillance and management recommendations for adults with Rett. Such recommendations, the investigators said, would ensure optimal and necessary care for women with Rett in adulthood. […] Overall, defining the symptoms of Rett in adults “demonstrates the importance of a transitional programme and the need of a dedicated multidisciplinary team to optimise the clinical management of these patients,” the researchers wrote.

• #69 Adults With Rett Require Tailored Care Management Program, Study SaysEnvelope icon

  https://rettsyndromenews.com/news/adults-with-rett-require-tailored-care-program-to-manage-symptoms-study-says/

  The transition into adulthood of women with Rett syndrome warrants a tailored program and a multidisciplinary team to provide the best clinical care, according to a 13-year Italian study of the complex symptoms experienced by these patients. […] Most adults with Rett deal with symptoms ranging from epilepsy and bone density problems to gastrointestinal issues and sometimes sleep and behavior difficulties. […] Although large studies have reported that most Rett patients reach middle age, little research has focused on adults with the disorder and the care they need. […] Based on these findings, the researchers defined a set of surveillance and management recommendations for adults with Rett. Such recommendations, the investigators said, would ensure optimal and necessary care for women with Rett in adulthood. […] Overall, defining the symptoms of Rett in adults “demonstrates the importance of a transitional programme and the need of a dedicated multidisciplinary team to optimise the clinical management of these patients,” the researchers wrote.

• #70 IRSF Resource Library | International Rett Syndrome Foundation

  https://www.rettsyndrome.org/resource-library/

  IRSF’s Rett Syndrome Transition of Care Toolkit is designed to empower parents and guide healthcare providers through the conversations necessary to transition a loved one to adult medical care. Every journey to adulthood is different, but with this Toolkit, families can face the challenges of aging with Rett head-on thanks to the insights and learnings of Rett caregivers who have been there before. […] The Rett Syndrome Communication Guidelines are an invaluable resource for therapists, educators, and families who seek information on the assessment, intervention, and long-term management of communication in individuals with Rett syndrome. This in-depth, evidence-based publication involved the participation of over 600 professionals and caregivers across 43 countries. […] The Rett Syndrome Handbook is your go-to guide for navigating life with Rett syndrome. Packed with expert advice, practical tips, and essential information, this comprehensive resource empowers families to better understand and manage the complexities of Rett. Whether you’re newly diagnosed or years into your journey, this handbook is designed to support you every step of the way.

• #71 Rett’s Syndrome: Symptoms and Treatment | Doctor

  https://patient.info/doctor/rett-syndrome

  The patient’s home may need adaptations and aids to improve mobility and safety. […] Mobility aids […] These include aids such as: […] Hinged ankle-foot orthoses to overcome hypertonia, which may help maintain independent walking. […] Hand splints that prevent the stereotyped hand movements, can reduce self-injury and agitation where they are particularly severe. […] Possible future therapy […] Research continues to assess the potential of gene editing or gene replacement therapy for the management of Rett syndrome.

• #72 Enhancing Care for Rett Syndrome | Children’s Hospital Los Angeles

  https://www.chla.org/blog/experts/care-innovation/enhancing-care-rett-syndrome

  Early diagnosis will be even more important going forward. […] With several leading-edge treatments for Rett syndrome in the pipeline, the Rett Syndrome Clinic within the multidisciplinary Neurological Institute is well-positioned to be an integral part of future clinical trials. […] We are just on the cusp of an exciting new therapeutic era, with a possible gene therapy, she says.

• #73 Enhancing Care for Rett Syndrome | Children’s Hospital Los Angeles

  https://www.chla.org/blog/experts/care-innovation/enhancing-care-rett-syndrome

  Early diagnosis will be even more important going forward. […] With several leading-edge treatments for Rett syndrome in the pipeline, the Rett Syndrome Clinic within the multidisciplinary Neurological Institute is well-positioned to be an integral part of future clinical trials. […] We are just on the cusp of an exciting new therapeutic era, with a possible gene therapy, she says.

• #74 A Reason for Hope in Rett Syndrome: New Medications, Novel Gene Therapies

  https://www.psychiatrist.com/news/a-reason-for-hope-in-rett-syndrome-new-medications-novel-gene-therapies/

  In addition to these medical treatments, there are also some non-medical interventions that may be helpful in managing Rett Syndrome symptoms. For example, physical therapy can help improve mobility and motor function, while speech therapy can help with communication skills. Assistive technology devices, such as eye-tracking communication systems, can also help individuals with Rett Syndrome communicate more effectively. […] The goal, they said, is to optimize care to improve quality of life.

• #75 Enhancing Care for Rett Syndrome | Children’s Hospital Los Angeles

  https://www.chla.org/blog/experts/care-innovation/enhancing-care-rett-syndrome

  Early diagnosis will be even more important going forward. […] With several leading-edge treatments for Rett syndrome in the pipeline, the Rett Syndrome Clinic within the multidisciplinary Neurological Institute is well-positioned to be an integral part of future clinical trials. […] We are just on the cusp of an exciting new therapeutic era, with a possible gene therapy, she says.

• #76 Enhancing Care and Research: Digital Technology’s Impact on Rett Syndrome Management

  https://www.appliedclinicaltrialsonline.com/view/digital-technology-rett-syndrome

  The advancement of monitoring technology not only offers opportunities for improving clinical research but also for transforming rare disease care. […] By using digital technologies at home, patients enable providers to assess their condition from a distance, adjust treatment plans, and intervene when necessary. […] The ongoing advancement of digital technologies will advance both care and research for Rett syndrome, ultimately improving outcomes and the quality of life for affected individuals and their families.

• #77 First Steps After a Rett Syndrome Diagnosis | Patient Education | UCSF Benioff Children’s Hospitals

  https://www.ucsfbenioffchildrens.org/education/first-steps-after-a-rett-syndrome-diagnosis

  Managing a chronic health condition takes effort, patience and time. A little bit of organization can make it easier. […] To help others who are caring for your child, consider creating a separate binder with useful information, such as your child’s daily schedule and sleep routine, feeding details, likes and dislikes, and emergency contacts. […] Finally, remember that your child’s health care team is part of your support system. Talk with your child’s providers about any concerns you have and to get connected with helpful resources.

• #78 A Reason for Hope in Rett Syndrome: New Medications, Novel Gene Therapies

  https://www.psychiatrist.com/news/a-reason-for-hope-in-rett-syndrome-new-medications-novel-gene-therapies/

  Rett syndrome is a rare neurodevelopmental disorder affecting approximately 1 in 10,000 live female births. […] There is no cure for Rett syndrome, but patients have better quality of life thanks to new advancements and care by a multidisciplinary team. […] RTT treatment requires a multidisciplinary approach: Neurologists may treat a patients seizures. Psychiatrists can offer psychological support. Sleep medicine specialists may sometimes manage mood and sleep disorders. Respiratory therapists, cardiologists, gastroenterologists, and orthopedists often round out the medical care team. There is no cure for Rett syndrome. But certain comorbidities typically associated with RTT are treatable. […] Parents and caregivers can help ensure patients receive the best care by keeping meticulous records of health documents and ensuring patients receive regular wellness checks, immunizations, and annual ECGs to monitor QTc intervals.

• #79 First Steps After a Rett Syndrome Diagnosis | Patient Education | UCSF Benioff Children’s Hospitals

  https://www.ucsfbenioffchildrens.org/education/first-steps-after-a-rett-syndrome-diagnosis

  Managing a chronic health condition takes effort, patience and time. A little bit of organization can make it easier. […] To help others who are caring for your child, consider creating a separate binder with useful information, such as your child’s daily schedule and sleep routine, feeding details, likes and dislikes, and emergency contacts. […] Finally, remember that your child’s health care team is part of your support system. Talk with your child’s providers about any concerns you have and to get connected with helpful resources.

• #80 First Steps After a Rett Syndrome Diagnosis | Patient Education | UCSF Benioff Children’s Hospitals

  https://www.ucsfbenioffchildrens.org/education/first-steps-after-a-rett-syndrome-diagnosis

  Managing a chronic health condition takes effort, patience and time. A little bit of organization can make it easier. […] To help others who are caring for your child, consider creating a separate binder with useful information, such as your child’s daily schedule and sleep routine, feeding details, likes and dislikes, and emergency contacts. […] Finally, remember that your child’s health care team is part of your support system. Talk with your child’s providers about any concerns you have and to get connected with helpful resources.

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