Materiały źródłowe

• #1 Angelman Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK560870/

  Angelman syndrome is a rare disorder caused by loss of function of the maternal UBE3A. It presents in childhood with psychomotor delay, absent speech, ataxia, and motor impairments. This activity reviews the evaluation and management of Angelman syndrome and the role of the interprofessional team in managing patients with this condition. […] The management of Angelman syndrome (AS) is mainly symptomatic as there is no curative treatment till now. […] Parents must be educated on the requirement of constant care and support for their child and the need for early and regular therapy. Genetic counseling can be offered to parents of AS patients. […] Once AS is suspected, the patient should be evaluated by an interprofessional team. Neonatal nurses should be tuned to the physical features of AS, and a full neurologic exam should be carried out. They should also provide support to the parents. Early diagnosis and treatment improve the prognosis of individuals with AS.

• #2 Angelman syndrome | healthdirect

  https://www.healthdirect.gov.au/angelman-syndrome

  Angelman syndrome can’t be cured, but there is a range of therapies that can improve your child’s quality of life. […] Your child will need life-long care to help them achieve the best possible quality of life. Ideally, this care should be provided by a team of healthcare professionals. […] Special education and therapy programs can help people with Angelman Syndrome to communicate and develop skills for daily life. […] People with Angelman Syndrome can’t live independently. But with support, they can be socially active, enjoy activities and continue to thrive. […] People with Angelman syndrome can have good general health and a near-normal life expectancy. […] Angelman syndrome can’t be cured. However, there are a range of therapies that can help improve your child’s quality of life: speech therapy and communications and social skills training, occupational therapy, physical therapy to improve posture, balance and movement, physical supports such as back or leg braces, supportive education, medicines to control seizures, such as antiepileptic medicines, therapy to help behavioural problems such as hyperactive behaviour.

• #3 Angelman syndrome

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

  A person with Angelman syndrome will have a near-normal life expectancy, but they will need support throughout their life. […] Some young babies with Angelman syndrome may have difficulties feeding because they’re unable to co-ordinate sucking and swallowing. In such cases, they may need to be fed through a feeding tube. Babies with Angelman syndrome may need to be treated for reflux. […] Your child may benefit from some of the following treatments and aids: anti-epileptic medicine to control seizures; physiotherapy may improve posture, balance and walking ability; it’s also important to prevent permanent stiffening of the joints as people with Angelman syndrome get older; communication therapy may help them develop non-verbal language skills, such as sign language and using visual aids, or ways to help them communicate such as Signalong, Makaton or PECS; using iPad applications and similar tablet devices may also help; behavioural therapy may be recommended to help overcome behaviours you find hard to manage, such as hyperactivity and a short attention span. […] While there’s currently no cure for Angelman syndrome, research into treatments is being done in other countries. There are also clinical trials looking at treatment for some of the symptoms associated with Angelman syndrome, such as seizures.

• #4 Angelman Syndrome: Causes, Symptoms Diagnosis & Treatment

  https://www.medicoverhospitals.in/woman-and-child/diseases/angelman-syndrome

  Multidisciplinary Approach : Requires collaboration among pediatricians, neurologists, developmental specialists, speech therapists, and occupational therapists. […] Seizure Management : Involves prescribed antiepileptic medications from neurologists. […] Communication Therapies : Essential for developing non-verbal communication skills and augmentative methods. […] Physical and Occupational Therapies : Aimed at enhancing motor skills, coordination, and overall physical function. […] Enroll in speech, occupational, and physical therapy. […] Collaborate with a multidisciplinary team. […] Utilize adaptive devices for independence.

• #5 Angelman Syndrome: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/17978-angelman-syndrome

  Theres currently no cure for Angelman syndrome. But treatment is available to help your child manage symptoms. This may include: […] Your childs provider will recommend treatment options specific to your childs symptoms and needs. Treatment is individualized for each person. […] To help take care of your child with Angelman syndrome, follow their healthcare providers instructions. This should include: […] Children with Angelman syndrome will likely need help with daily tasks throughout their lives. Your childs care team can answer questions and offer support. They also might be able to recommend a local or online support group. […] If your child has Angelman syndrome, theyll need to see their healthcare team regularly. This is to make sure their treatment and therapies are working. Let their provider know if you notice new or worsening symptoms. Visit the emergency room if your child has a seizure for the first time. […] If your child has Angelman syndrome, it may be helpful to ask their healthcare provider the following questions: […] Your childs care team will be with you every step of the way.

• #6 Angelman Syndrome Clinic | Texas Children’s

  https://www.texaschildrens.org/departments/angelman-syndrome-clinic

  Internationally recognized expertise in Angelman syndrome care Texas Children’s Hospital offers highly specialized care for children who have Angelman syndrome, a genetic disorder that affects brain development, causing problems with movement, learning, speech and other issues. Our Angelman Syndrome Clinic is one of only a few in the country — and the first in Texas — that focuses exclusively on this complex genetic disorder. […] Multidisciplinary team for complete Angelman syndrome care under one roof Since 2018, the Angelman Syndrome Clinic has brought hope to children and their families affected by this rare genetic disorder. At our clinic, you and your child can see all the specialists they need in one location. […] Our clinic brings together a team from multiple specialties with expertise in Angelman syndrome and the challenges it presents. At Texas Children’s, your child has access to highly specialized care from doctors and providers in: Genetics and genetic counseling, Neurology, Psychiatry and psychology, Developmental and behavioral pediatrics, Physical medicine and rehabilitation, including physical, occupational and speech-language therapies, Nutrition, Social work.

• #7 Angelman syndrome – Care at Mayo Clinic – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/angelman-syndrome/care-at-mayo-clinic/mac-20478989

  Mayo Clinic’s Children’s Center and Angelman Syndrome Clinic provide families with a team of experts to care for their child. Mayo’s Clinic’s Angelman Syndrome Clinic provides the highest quality care from specialists with expertise in genetics, neurology, orthopedics, sleep medicine, nutrition, gastroenterology, psychiatry, speech therapy, and physical and occupational therapy. All these specialists are available in one place, focused on your child’s treatment plan. […] A team of specialists at the Angelman Syndrome Clinic will put together a complete and personalized treatment plan for your child. You can use this plan with your primary care provider to continue treatment at home. […] Highly skilled pediatric experts diagnose and treat all types of conditions in children. As a team, we work together to find answers, set goals and develop a treatment plan tailored to your child’s needs.

• #8 Angelman Syndrome Program at Mass General for Children

  https://www.massgeneral.org/children/angelman-syndrome

  The Angelman Syndrome Program at Mass General for Children, in partnership with the Angelman Syndrome Foundation, aims to provide comprehensive clinical care to individuals with Angelman syndrome. […] With the ultimate goal of improving quality of life for individuals with Angelman syndrome, the clinic provides one-stop-shopping access to a wide range of specialists who work together to evaluate and treat the most common problems encountered in Angelman syndrome. […] The clinic includes specialists in epilepsy, sleep, gastroenterology and nutrition, neuropsychology, psychiatry and genetics. […] The program offers a full range of diagnostic tests including inpatient electroencephalography (EEG) monitoring, as well as a broad range of treatment options including dietary therapy and vagus nerve stimulation (VNS).

• #9 Angelman Syndrome Clinic | Children’s Mercy Kansas City

  https://www.childrensmercy.org/departments-and-clinics/neurology/angelman-syndrome-clinic/

  The Angelman Syndrome Clinic at Childrens Mercy is one-of-a-kind in the region and designed to be a medical home for children with Angelman syndrome and their families. […] The clinic includes a lead physician and nurse coordinator who will get to know your family, assess your childs needs, and connect you with the right subspecialties and research opportunities. […] Your family will meet with our lead physician and nurse coordinator regularly. […] We will coordinate your child’s care so that you can see all the specialists you might need in one place. […] Our Patient and Family Services team will help arrange the appointments and, if necessary, coordinate transportation and lodging. […] The clinic is held at the Neurology Clinic on the Adele Hall Campus. Your visit with our lead physician and nurse coordinator will take approximately 1 to 1.5 hours. […] The Angelman Syndrome PFAC supports the highest standard of excellence at Children’s Mercy through meaningful collaboration between families and hospital staff.

• #10 Angelman Syndrome Therapies & Management of Symptoms

  https://cureangelman.org/angelman-syndrome-therapies

  Angelman syndrome causes developmental delays, difficulties with motor skills like walking, and difficulties with communication. Therapies are considered a key part of care for individuals living with Angelman syndrome (AS), to maximize abilities and improve quality of life. […] Experts in AS developed a set of guidelines for AS care in 2022, in a medical paper called A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome. This consensus statement recommends that physical, occupational, and speech therapy should be initiated at the time of diagnosis (if not already underway), and behavioral therapy should be considered starting at 1-3 years of age. The statement recommends that these therapies generally continue throughout the lifetime of the individual living with AS.

• #11 Angelman Syndrome > Fact Sheets > Yale Medicine

  https://www.yalemedicine.org/conditions/angelman-syndrome

  Angelman syndrome is a lifelong condition. People with the condition are usually unable to live independently and need support and care throughout their lives. […] While there is no cure for Angelman syndrome, treatments such as speech, physical, and occupational therapy, as well as anti-seizure medications, can help manage symptoms and improve quality of life. […] Treatment is tailored to each patient based on their symptoms and needs. Treatments may include: Anti-seizure medications (also known as anticonvulsants or anti-epileptic medications), which can help prevent, reduce, and lessen the severity of seizures. […] Physical and occupational therapy, which can help improve motor skills, such as walking, mobility, and balance. […] Speech therapy, which is used to manage speech problems. Therapy typically focuses on developing nonverbal communication skills, such as sign language, and using visual communication aids, such as picture cards.

• #12 Support & Resources – Angelman Syndrome Ireland

  https://www.angelman.ie/support-resources/

  Many families use melatonin as first line treatment for sleep issues. Research (Braam et al, 2008) has now shown that the bodys own hormone melatonin is not produced sufficiently. In Ireland this requires a prescription and your doctor can advise on appropriate dosage for age. […] People with Angelman syndrome experience walking problems and compromised motor skills. A physiotherapist can establish a tailored exercise program that can help develop, maintain, and restore maximum movement and functional ability. […] Occupational therapy can help people with Angelman syndrome improve their daily life skills, including: Fine motor skills: Grasping objects, writing, using utensils, and self-feeding. […] Individuals affected with AS have limited functional speech and are typically able to communicate through gestures, sounds, signing, and augmentative communication devices (AAC). The lack of functional speech in AS is thought to be associated with cognitive delays and oral motor dysfunction. […] Equine therapy is, essentially, horseback riding under guided and trained supervision. Riding a horse exercises many of the muscles that are also used for walking.

• #13 Angelman Syndrome: Pediatric Primary Care Guide – Topical Reviews in Pediatrics

  https://trip.utah.edu/angelman-syndrome-pediatric-primary-care-guide/

  Developmental therapy should begin at the time of diagnosis. This may be accessed through Early Intervention programs for children under 3. […] Most children with Angelman syndrome will use only nonverbal methods of communication. […] Many children will require long-term physical therapy if they are non-ambulatory or unstable in their gait. […] Newborns with Angelman syndrome often have feeding problems requiring special nipples or tube feeding. […] Many children have gastroesophageal reflux with subsequent vomiting and poor weight gain. […] Sleep difficulties can be very challenging for families. […] Addressing sleep-related problems in Angelman syndrome involves establishing a consistent sleep-wake pattern and routine. […] Drooling in Angelman syndrome is not fully understood, but its likely related to difficulties in controlling saliva rather than producing too much.

• #14 Angelman syndrome: a parent’s guide to understanding and supporting yo – Upbility Publications

  https://upbility.net/blogs/news/angelman-syndrome?srsltid=AfmBOorVUF9u3EU2Qoq6-lI66auxRfgDV1Cp3D30rwMYvg7BID5En47d

  Children with AS often need special education services, such as modified curricula, additional support from teachers or therapists, and adaptations to help them succeed in school. […] Speech therapy can help people with AS develop communication skills, even if they remain non-verbal. […] Occupational therapy focuses on improving a child’s ability to perform daily activities such as dressing, feeding and playing. […] Physiotherapy aims to improve the child’s gross motor skills, strength and balance. […] Behavioral therapy can help children with AS develop social skills, manage difficult behaviors, and cope with the emotional aspects of living with a disability. […] Establishing a consistent sleep routine can help improve the quality of sleep for children with AS. […] Some people with AS may benefit from certain dietary modifications, such as a gluten-free or casein-free diet, to address gastrointestinal problems.

• #15 Managing Angelman Syndrome with Care | Rising Above ABA

  https://www.risingaboveaba.com/autism-blog/angelman-syndrome

  Physical and Occupational Therapy: Physical and occupational therapy play an important role in addressing movement and balance issues commonly associated with Angelman Syndrome. These therapies can help improve motor skills, enhance mobility, and promote independence in daily activities. […] Educational Support: Specialized educational programs that cater to the unique learning needs of individuals with Angelman Syndrome can help maximize their potential. Individualized education plans (IEPs) can be developed to ensure appropriate accommodations and support in the learning environment. […] Behavioral Interventions: Behavioral interventions and strategies can assist in managing challenging behaviors that may be associated with Angelman Syndrome. Positive reinforcement and structured routines can help individuals with Angelman Syndrome thrive.

• #16 Unmet clinical needs and burden in Angelman syndrome: a review of the literature | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0716-z

  Most individuals with AS do not ever develop oral speech or more than a few vocalizations, even with therapy. […] The vast majority of communication interventions for children with AS have focused on augmentative and alternative communication systems. […] Although both expressive and receptive language are significantly impaired in individuals with AS, several studies note receptive skills being significantly stronger than expressive skills. […] Studies exploring the use of functional analysis of behavior in children with AS suggest that escape, tangible obtainment, and/or social engagement seeking are the primary functions of challenging behaviors. […] Sleep disturbances are considered part of the clinical diagnostic criteria for AS, although prevalence rates vary in the literature with approximately 20% to 90% of individuals with AS being described as experiencing sleep challenges.

• #17 Angelman Syndrome > Fact Sheets > Yale Medicine

  https://www.yalemedicine.org/conditions/angelman-syndrome

  Behavioral therapy, which may help manage hyperactivity, sleep problems, aggressive or self-injurious behavior, and other behavioral concerns. […] Good sleep habits and melatonin, which can help improve sleep problems. Good sleep habits may include keeping a consistent sleep schedule and avoiding caffeine before going to sleep. Taking a small dose of melatonin an hour before may also help. […] Special nipples and feeding therapy, which may be used to improve feeding in babies with sucking problems.

• #18 Angelman Syndrome: Pediatric Primary Care Guide – Topical Reviews in Pediatrics

  https://trip.utah.edu/angelman-syndrome-pediatric-primary-care-guide/

  Hyperactivity and other behavior issues can be difficult to address in children and adolescents. […] Over 40% of individuals with Angelman syndrome display behaviors consistent with anxiety, and more than 50% show distress when separated from their preferred caregiver, making anxiety one of the primary clinical symptoms of the disorder. […] There is currently no approved therapy specific to Angelman syndrome. […] Families should discuss the transition of medical care from their pediatric medical home to an adult care provider.

• #19 ANGELMAN SYNDROME: CAUSES, SYMPTOMS, COMPLICATIONS, TREATMENT AND LATEST RESEARCH | Mya Care

  https://myacare.com/blog/angelman-syndrome-causes-symptoms-complications-treatment-and-latest-research

  Speech Therapy and Alternative Communication: Most people with AS have limited or absent speech. Augmentative and Alternative Communication (AAC) tools, such as picture exchange systems and speech-generating devices, can enhance communication. […] Seizures occur in 80% of people with AS and typically require antiepileptic medications. […] Lifelong regular checkups are necessary to manage associated health conditions: Orthopedic care for scoliosis or joint stiffness. Gastroenterology support for feeding and digestion issues. Vision and dental care to monitor for strabismus and teeth grinding. […] Through multidisciplinary care, people with AS can achieve better mobility, communication, and overall well-being. […] AS is a lifelong neurogenetic disorder, but people can have a normal lifespan with proper medical care and supportive therapies.

• #20 Angelman Syndrome: Pediatric Primary Care Guide – Topical Reviews in Pediatrics

  https://trip.utah.edu/angelman-syndrome-pediatric-primary-care-guide/

  Most children with Angelman syndrome will require treatment for seizures; however, diagnosis can be challenging since movement abnormalities (e.g., non-epileptic myoclonus) can be mistaken for seizures, and EEG abnormalities can exist despite the absence of seizures. […] The most commonly used medications are levetiracetam and benzodiazepines (clonazepam, clobazam). […] When facing the complexities of Angelman syndrome, seeking guidance from specialists becomes paramount. […] The medical home plays a central role in coordinating various aspects of care. This includes orchestrating referrals to subspecialists, overseeing therapeutic interventions, monitoring pain management strategies, aiding in accurate seizure diagnosis, and collaborating closely with specialists to ensure comprehensive and holistic care for the affected individuals.

• #21 Azthena logo with the word Azthena

  https://www.news-medical.net/health/What-is-Angelman-Syndrome.aspx

  Diagnosis of Angelman syndrome is based on the typical physical and developmental features, EEG changes, especially large-amplitude slow-spike waves, and genetic testing. More specifically, DNA methylation testing detects this condition in about 80% of patients. […] Treatment of Angelman syndrome includes seizure control with anticonvulsants like sodium valproate, benzodiazepines, and ethosuximide. Other treatment components can include physiotherapy, speech therapy, and special education, each of which is required to improve the patients physical and mental skills, as well as prevent scoliosis and immobility.

• #22 Angelman syndrome in children – Children’s Health Neurology

  https://www.childrens.com/specialties-services/conditions/angelman-syndrome

  Angelman syndrome is a complex, rare genetic disorder. It mostly affects the body’s nervous system. A child with Angelman syndrome may have difficulty with coordination, speech and language, learning or playing. Through clinical research trials, our experts are dedicated to improving care for children with Angelman syndrome. […] Children’s Health has the expertise and resources to help your child with any issue they may experience with Angelman syndrome. […] Nutritionists can help your child if they are experiencing seizures that can’t be controlled with medication. If your child is experiencing seizures and anti-seizure medication isn’t working, a high-fat, low-carbohydrate diet (ketogenic diet) might help. You and your child will work with one of our nutritionists to learn more about this diet.

• #23 Support & Resources – Angelman Syndrome Ireland

  https://www.angelman.ie/support-resources/

  The Standards of Care for Angelman Syndrome was published in 2022 and is a framework for healthcare providers at all familiarity levels. This collaborative project documents common issues that accompany AS and the most common and established ways of providing care for the issues. It covers both paediatric and adult patients. […] The Angelman Syndrome Foundation (ASF) in the US has developed a Seizure Treatment Guidelines. This is to be provided to a doctor in an emergency situation or a new clinical team to understand treatment of seizures in AS. Seizures in Angelman syndrome have some unique characteristics and treatment and this document should help someone who is unfamiliar with AS. […] Up to 80% of Angelman syndrome patients are estimated to have sleep disturbances such as decreased sleep, taking more time to fall asleep, and abnormal sleep behaviors. By far its one of the issues parents and care givers struggle with the most. Fortunately there are a number of ways in which this can be improved.

• #24 Unmet clinical needs and burden in Angelman syndrome: a review of the literature | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0716-z

  Individuals with AS may have significantly low levels of melatonin with a delayed melatonin peak, which may explain why melatonin has been a successful treatment option for some individuals. […] Given the severity of the AS phenotype, the burden on caregivers is thought to be high. […] Sleep problems in individuals with AS are one of the most frequently reported stressors for families, affecting 65% of caregivers.

• #25 angelman-logo-landscape

  https://www.angelmanuk.org/what-is-angelman-syndrome/faqs/

  Good sleep hygiene keep to regular bedtime routines; keep lights in the evening/at night to a minimum; have some calm quiet time before bed; have a dark bedroom, remove sources of light/noise. […] Melatonin can be provided by your GP on prescription. Melatonin is a hormone and the amount that each person makes naturally is different. […] Most individuals with Angelman syndrome will need some specialist equipment, some more than others. […] There are a vast array of products available to help you and the person with Angelman Syndrome. From the basics of specially designed forks and spoons, to high tech wheelchairs, hoists and safe, secure beds. […] Your local council may have an occupational therapist on its staff who will come and assess your home for any adaptations that may be necessary.

• #26 Experts Detail Best Strategies for Angelman Care in New GuidelinesEnvelope icon

  https://angelmansyndromenews.com/news/experts-detail-best-strategies-angelman-care-new-guidelines/

  “Transition to adulthood requires consideration of ongoing educational and therapeutic supports including access to behavioral therapy … applying for disability, state-specific waiver programs, and guardianship,” the experts wrote. […] They also emphasized the importance of providing support to parents and other caregivers, as well as siblings and family members who are indirectly affected by Angelman syndrome. […] “Caregivers should be educated on seizure management, particularly on the recognition of NCSE,” the researchers wrote. […] Managing sleep problems usually starts with trying to promote good sleep hygiene — for instance, going to bed and waking up at consistent times. […] A feeding therapist may be advised in some cases, particularly if feeding difficulties are contributing to pneumonia.

• #27 Angelman Syndrome: Pediatric Primary Care Guide – Topical Reviews in Pediatrics

  https://trip.utah.edu/angelman-syndrome-pediatric-primary-care-guide/

  Angelman syndrome is a genetic disorder that causes severe developmental delay, intellectual disability, and a distinctive and recognizable pattern of behaviors, including frequent smiling, laughing, and hyperactivity. […] In addition to well-child and acute-care visits, the medical home may want to schedule periodic chronic-care visits to help with ongoing issues, including behavior and educational progress. […] Physical therapy, occupational therapy, and speech therapy with an emphasis on nonverbal methods of communication, including augmentative communication aids (e.g., picture cards or communication boards), signing, and electronic devices are beneficial. […] The happy affect seen in children with Angelman syndrome is so pervasive that medical causes for pain, such as severe gastroesophageal reflux, should be considered when patients appear irritable or miserable for prolonged periods.

• #28 Angelman syndrome: a parent’s guide to understanding and supporting yo – Upbility Publications

  https://upbility.net/blogs/news/angelman-syndrome?srsltid=AfmBOorVUF9u3EU2Qoq6-lI66auxRfgDV1Cp3D30rwMYvg7BID5En47d

  Regular visits to doctors are essential for children with AS, as they help monitor the child’s overall health and development. […] Managing seizures is vital for people with AS. Parents should work closely with their child’s medical team to develop a treatment plan that includes appropriate medications and treatments to control seizures. Regular monitoring of the child’s health is also vital to address other problems, such as gastrointestinal problems or scoliosis. […] Several medications and therapies can help manage the symptoms of AS, including anticonvulsants for seizures, melatonin for sleep disorders, and physical, occupational and speech therapies to improve motor skills and communication. […] An Individualized Education Program (IEP) is a legal document that describes a child’s unique educational needs and the services and accommodations provided to meet those needs.

• #29 Angelman Syndrome Therapies & Management of Symptoms

  https://cureangelman.org/angelman-syndrome-therapies

  In children, therapies are often provided through early intervention services and through the educational system. In the United States, therapies through early intervention services are available to children birth to age 3 years. Each state has its own program to evaluate for and provide these therapies.

• #30 Angelman syndrome in Poland: current diagnosis and therapy status—the caregiver perspective: a questionnaire study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03292-w

  Angelman syndrome (AS) is a rare neurodevelopmental disease caused by imprinting disorders that impede the production of the ubiquitin E3A ligase protein (UBE3A). AS affects multiple systems, with the main symptoms including epilepsy, psychomotor disorders and speech development disorders. […] The care of patients with AS in Poland is carried out according to the European and world standards, however there is an impeded access to clinical geneticist, and the knowledge about rare diseases among primary healthcare physicians could be improved. Moreover, access to AS care specialists and coordination of care is limited. There is a need for creation a specialized centers and databases for AS patients. […] The main aim of the study was to determine which recommendations have actually been implemented into everyday practice and are used in the diagnosis and treatment of the Polish population of patients with AS.

• #31 angelman-logo-landscape

  https://www.angelmanuk.org/what-is-angelman-syndrome/faqs/

  The first respite option is usually to be offered a certain number of hours a week or a month as Direct Payments. This means you can employ someone to look after your child for that number of hours. […] Overnight respite is usually offered once your child is 7 or 8. In some regions, this may be your child spending a night in a purpose built unit with other young people with disabilities, or staying overnight with a family. […] Special schools tend to be a one stop shop for all care needs, often having their own school nurse trained in the needs of all the children in the school, access to their own Speech and language therapist, occupational therapist and physiotherapist, wheelchair clinics and orthotics clinics. […] By far, one of the things parents, carers and the wider family struggle with the most is the issue of sleep, or lack of it. Unfortunately, the bottom line is that most (although not all) individuals with AS just need less sleep than their typical peers and there isn’t a single quick fix to this.

• #32 Angelman syndrome: a parent’s guide to understanding and supporting yo – Upbility Publications

  https://upbility.net/blogs/news/angelman-syndrome?srsltid=AfmBOorVUF9u3EU2Qoq6-lI66auxRfgDV1Cp3D30rwMYvg7BID5En47d

  Children with AS often need special education services, such as modified curricula, additional support from teachers or therapists, and adaptations to help them succeed in school. […] Speech therapy can help people with AS develop communication skills, even if they remain non-verbal. […] Occupational therapy focuses on improving a child’s ability to perform daily activities such as dressing, feeding and playing. […] Physiotherapy aims to improve the child’s gross motor skills, strength and balance. […] Behavioral therapy can help children with AS develop social skills, manage difficult behaviors, and cope with the emotional aspects of living with a disability. […] Establishing a consistent sleep routine can help improve the quality of sleep for children with AS. […] Some people with AS may benefit from certain dietary modifications, such as a gluten-free or casein-free diet, to address gastrointestinal problems.

• #33 Adult Resources – Angelman Syndrome Foundation

  https://www.angelman.org/resources-education/adulthood/

  The Angelman Syndrome Foundation is committed to supporting every individual, every step of the way. As individuals with Angelman syndrome age, new needs arise… for housing, programs, community, care, and more. […] The ASF Adult Taskforce creates and cultivates resources related to adulthood in Angelman syndrome or transitioning to adulthood. […] Use the tour checklist for tours of day programs and long-term care facilities. […] Download the customizable binder. Helpful for every day and transition of care. […] The ASF Family Champions are family members who have volunteered to be available to other families to share their knowledge, experience and lend an ear. […] These families are a great resource for questions, concerns and advice on various aspects of adults with AS transitioning and thriving.

• #34

• #35 Angelman Syndrome | Boston Children’s Hospital

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

  Angelman syndrome is a complex genetic disorder that causes developmental and neurological problems, such as severe speech impairment and trouble walking and balancing (ataxia). […] Treatment focuses on the behaviors associated with the disorder. […] Children with Angelman syndrome may have feeding difficulties, sleep problems, and hyperactivity. […] Treatment for Angelman syndrome focuses on managing the child’s medical problems and developmental delays since there is no cure to repair chromosomes. Treatment may include the following: Anticonvulsant medication for seizures, Physical therapy to help with joint mobility and movement, Speech therapy, Occupational therapy, Behavior therapy. […] People with Angelman syndrome have almost normal life spans. Adults are not usually able to live on their own but can learn basic household tasks and can live in group homes. Some individuals can have jobs in which they are supervised directly.

• #36 Angelman Syndrome Program at Mass General for Children

  https://www.massgeneral.org/children/angelman-syndrome

  The program also provides family support including guidance through transitions at age 18 and 22 and, if necessary, residential placement upon reaching adulthood. […] Between 2006 and the formal clinic opening in 2012, over 70 individuals with Angelman syndrome were seen at Mass General for Children, with an emphasis on the diagnosis and treatment of seizures.

• #37 Adult Resources – Angelman Syndrome Foundation

  https://www.angelman.org/resources-education/adulthood/

  Support for Caring for an Adult with Angelman Syndrome […] These meetings are not only for parents and siblings, but also extended family members, neighbors or friends who are involved in the care of an adult with AS. […] Connect with other care givers […] Learn about available resources […] Hear from experts […] Work toward making plans for long-term care for your loved one. […] Start planning now and you can make changes as your child ages and grows. The tool helps you express future wishes, plan for paying for needs, where to live and more.

• #38 Caring for a Child with Angelman Syndrome in Hong Kong: A Qualitative Study

  https://www.gavinpublishers.com/article/view/caring-for-a-child-with-angelman-syndrome-in-hong-kong-a-qualitative-study

  Angelman Syndrome (AS) is a rare genetic disease caused by chromosomal abnormalities. This disease is incurable, life-threatening and chronically debilitating. It originates in early childhood and affects a small proportion of the general population. When a child is diagnosed with a rare genetic disease, caregivers experience severe distress. The parents of these children face a lifetime of challenges and personal sacrifice, including inadequate accessibility to health services and support and the lack of experienced healthcare professionals. Parents of children with disabilities inevitably face different challenges daily, including physical care, medical needs, educational needs, treatments and caring responsibilities, resulting in increased stress levels of the entire family, particularly the caregivers. The challenging behaviours and behavioural features, such as short attention span, increased sociability, hyperactivity, aggressive behaviours and sleep disorders of the child, also contribute to the psychological distress, such as stress, anxiety and depression. In addition, repeated exposure to caring-related stressors exposes caregivers to major and minor physical health problems. A greater number of headaches, sleep disturbances, gastrointestinal problems and respiratory infections were found in parents caring for children with intellectual disabilities than those whose children have no intellectual disabilities. Family roles and function are being modified to realise an effective strategy for caring of children without self-care abilities and maintaining the family balance despite the continuous rounds of childcare. Parents are forced to be advocators of their children and fight for the appropriate care in medical and social services. Parents of children with rare diseases reported being unsatisfied with health professionals because of their inadequate knowledge and awareness of the disease, inability to provide a definite diagnosis and inadequate support towards family planning. Particularly with inadequate support, parents have endless worries about their children’s future life as they have become highly dependent to their caregivers.

• #39 Respite Care for Families Affected by Angelman SyndromeEnvelope icon

  https://angelmansyndromenews.com/health-insights/respite-care-help-families-caregivers-affected-by-angelman-syndrome/

  Providing constant care to a person with a chronic disease like Angelman syndrome can drain you mentally, physically, and spiritually. At some point, you must recharge, and respite care can provide you with that opportunity to rest, relax, and restore. […] While it can be complicated to take a break from caring for a loved one, doing so is good for you, your family, and your loved one with Angelman syndrome. It gives you a chance to rejuvenate and take care of yourself. Ultimately, this will allow you to be a better caregiver. […] Respite care could also be a break for your child with Angelman syndrome. Their usual routine can be relaxed, giving them the opportunity to do something different. This promotes new skill development and independence. Remember that the child may be prone to separation anxiety, so take measures to help alleviate that, such as having the same respite carer look after them if possible. […] Sometimes a home health worker who visits during the day and has established a good relationship with your loved one with Angelman syndrome can supply respite care for longer periods. This can allow you to travel or maintain your own health.

• #40 Angelman syndrome – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/angelman-syndrome/diagnosis-treatment/drc-20355627

  Our caring team of Mayo Clinic experts can help you with your Angelman syndrome-related health concerns […] A team of healthcare professionals from different areas works with you to manage your child’s condition. Depending on your child’s symptoms, treatment for Angelman syndrome may involve: […] Finding out that your child has Angelman syndrome can be hard. You may not know what to expect. You may worry about whether you can care for your child’s medical needs and developmental disabilities. There are resources that can help. […] Find a team of healthcare professionals, including therapists, that you trust to help you make decisions about your child’s care and treatment. These professionals also can help you find local resources. […] Being in touch with other families facing issues like yours may help you feel more connected. Ask your child’s healthcare professional about local support groups and other helpful organizations.

• #41 For Parents – Angelman Syndrome Foundation

  https://www.angelman.org/for-parents/

  The ASF offers counseling services at no charge to Angelman families in the United States for help with (but not limited to): caregiver stress, substance abuse issues, self-esteem concerns and more. […] The Clinical Care Tool Kit includes: Overall Standards of Care, Seizure Treatment Guidelines, Management of Nonconvulsive Status Epilepticus, General Anesthesia Best Practices, Myoclonus in AS, Physical Therapy and Occupational Therapy, LADDER Learning Network. […] Standards of Care for Angelman Syndrome. […] Tips & resources for those who care for an individual with AS. […] Physical & Occupational Therapy Best Practices.

• #42 Angelman syndrome in Poland: current diagnosis and therapy status—the caregiver perspective: a questionnaire study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03292-w

  The survey also included open questions for caregivers, such as:”What do you consider to be the biggest problem in the diagnosis of Angelman syndrome in Poland?”. 64.3% (n=45) of respondents indicated that the biggest problem is finding the right specialist to notice abnormalities and refer the child for detailed genetic tests. Another impediment is hampered access to specialists experienced in treating people with AS. Respondents also point out a lack of sufficient knowledge about rare diseases among health care professionals. […] The occurrence of a rare disease in a family often experience negative impact on the psychological well-being of its individual members. […] The biggest difficulties reported by caregivers are finding an appropriate specialist and the lack of sufficient knowledge about rare diseases among healthcare professionals in Poland.

• #43 Standards of Care for Angelman Syndrome – Angelman Syndrome Foundation

  https://www.angelman.org/resources/standards-care/

  The Standards of Care for Angelman Syndrome was published in 2022. This collaborative project documents common issues that accompany AS and the most common and established ways of providing care for the issues. […] Health Issues in Adults with Angelman Syndrome.

• #44 Experts Detail Best Strategies for Angelman Care in New GuidelinesEnvelope icon

  https://angelmansyndromenews.com/news/experts-detail-best-strategies-angelman-care-new-guidelines/

  The experts stressed the importance of breathable clothing, and strategies to reduce excessive heat like having fans or cool beverages available. […] Angelman patients should be given all vaccinations recommended for the general population. […] The experts hope their document will become “a framework for providers of all familiarity levels.” […] “Standards of care in the management of [Angelman syndrome] are keys to ensure optimal care at a critical time when new disease-modifying therapies are emerging,” they wrote.

• #45 Clinical Care Tool Kit – Angelman Syndrome Foundation

  https://www.angelman.org/resources/clinical-care-tool-kit/

  Clinical Care Tool Kit. This comprehensive document combines several resources for caregivers and clinicians into one document. Included are: Overall Standards of Care, Seizure Treatment Guidelines, Management of Nonconvulsive Status Epilepticus, General Anesthesia Best Practices, Myoclonus in AS, Physical Therapy and Occupational Therapy, LADDER Learning Network […] Researchers at UNC Chapel Hill Find New Potential Treatment for AS […] Dubai Launches First Angelman Clinic in GCC […] Angelman Clinic opens at Cedars-Sinai Guerin Children’s […] Angelman Clinic opens at Children’s Hospital of Philadelphia (CHOP) […] Health Issues in Adults with Angelman Syndrome.

• #46 Cedars-Sinai Guerin Children’s Opens Angelman Syndrome Clinic

  https://www.cedars-sinai.org/newsroom/cedars-sinai-guerin-childrens-opens-angelman-syndrome-clinic/

  Patients seen at the Angelman Syndrome Clinic at Cedars-Sinai Guerin Childrens will have access to a team of specialists with expertise in this condition. […] Cedars-Sinai Guerin Childrens opened a clinic today to provide specialized multidisciplinary care for children with Angelman syndrome, a rare and severe neurodevelopmental condition. […] Children with Angelman syndrome present significant difficulties in their communication, motor and overall development. […] Our team of experts aims to help parents access the best interventions for their children and navigate the challenges of this syndrome the best way possible. […] Caring for children with Angelman syndrome is complex. […] The Angelman Syndrome Clinic at Cedars-Sinai Guerin Childrens will make it possible for children and their families to consult with multiple experts in one place.

• #47 Angelman Syndrome Clinic | Vanderbilt Children’s Hospital Nashville, TN

  https://www.childrenshospitalvanderbilt.org/clinic/angelman-syndrome

  The comprehensive Angelman Syndrome clinic at Vanderbilt is a partnership with the Angelman Syndrome Foundation. We aim to provide comprehensive care to all individuals with Angelman syndrome from birth through adulthood. […] At Monroe Carell we want to improve upon and implement new standards of care. We use a strong evidence base and the knowledge and experience we have gained working with families and other medical experts around the world. Ultimately, we want to improve the quality of life for both our patients and their caregivers. […] We believe our care extends outside the clinic. An appointment at Monroe Carell is only the beginning of learning more about your child. We add a personal touch and strong advocacy for every child. Our clinic combines medical care, education, scientific research and clinical trials to provide your family with every available therapy. We work with your medical home to ensure continuity of care.

• #48 First-In-Kind Hotline For Patients with Angelman Syndrome | Children’s Hospital Colorado

  https://www.childrenscolorado.org/about/news/2021/may-2021/angelman-syndrome-hotline/

  Patients with Angelman syndrome, a rare neurogenetic disorder, will have access to a new, first-of-its-kind hotline. The emergency hotline, available 24-hours a day and seven days a week, will enable provider-to-provider consultations to manage urgent issues with standards of care specific to Angelman syndrome, especially seizures. […] Anticipating and managing seizures is a common concern for parents and caregivers of children living with Angelman syndrome. […] Through the leadership of Dr. Jessica Duis of Childrens Colorado and a team of medical professionals, including Dr. Elizabeth Berry-Kravis of Rush University Medical Center, Dr. Srishti Nangia of Cornell University at Weill Cornell Medical Center and Dr. Diana Walleigh of Childrens Colorado, FAST is ensuring that all individuals with Angelman syndrome have access to the highest standards of care.

• #49 Resources – Angelman Syndrome Association Australia

  https://angelmansyndrome.org/family-support-services/

  The Standards of Care for Angelman Syndrome was published in 2022. This collaborative project documents common issues that accompany AS and the most common and established ways of providing care for the issues. It covers paediatric and adult patients. […] Emergency Care Hotline a global 24-hour emergency and urgent care hotline will be available for provider-to-provider consultations to appropriately manage issues, particularly seizures, related to Angelman syndrome. […] Interventions to improve sleep for individuals with Angelman syndrome: A systematic review. […] The Association of Challenging Behaviors in Children with Angelman Syndrome on Caregiver Anxiety, Stress, and Depression.

• #50 Angelman Syndrome (AS) – Rare Awareness Rare Education

  https://rareportal.org.au/rare-disease/angelman-syndrome-as/

  Will need 24/7 attendant/carer support in Emergency and Hospital, regardless of age […] A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome has been developed by an international team of specialists that manage patients with Angelman Syndrome (AS); this includes input from an Australian-based specialist. […] Healthcare professionals involved in the management of Angelman Syndrome (AS) may include general practitioners (GP), paediatricians, geneticists, psychiatrists, neurologists, ENT specialists, respiratory/sleep specialists, orthopaedic and spinal specialists, speech therapists, physiotherapists, orthotists, dieticians, occupational therapists and clinical nurses. […] Whilst there is no overall curative treatment for Angelman Syndrome (AS), there are available therapies for managing symptoms. This may involve a multidisciplinary team and could include lifelong care. Management strategies may consist of physical, occupational and speech therapy, special education as well as social skills and communication training. […] Angelman Syndrome Association Australia provides for families experiencing emergencies/crises through the Angelman Syndrome Family Support Fund.

• #51 Reddit – The heart of the internet

  https://www.reddit.com/r/AngelmanSyndrome/comments/11lak8f/caregiver_for_a_child_with_angelmans_syndrome/

  I am a new cargiver for a kid wioth angelmans syndrome. I am looking for advice maybe from one caregiver to another – How can we redirect hitting and biting? It is my second shift and im completly at a loss for how I can help this person. He keeps hitting me headbutting and biting me. I keep feeling like im doing something wrong or something to incite this behavior. Please, any advice? I cant get near him without him hitting me. I need Help. I do my best to remain calm, I honestly dont know how else I cant react except but be kind and let it slide? Does anyone have advice for me as a cargiver? I keep trying to redirect by giving high fives instead.

• #52 What Is Angelman Syndrome

  https://www.webmd.com/children/angelman-syndrome

  Caring for a child with Angelman syndrome is unique with different strengths and challenges. What works for one may not work for another. But certain tips apply to most everyone. As a caregiver, it’s important to: […] Give your child any medications exactly as prescribed. […] Get developmental assessments along with physical, occupational, and speech therapies. […] Go to all follow-up medical visits and keep your child’s care team updated. […] Caring for a child with a disability can be deeply rewarding. But it also can be tiring, both physically and emotionally. Try to make time for self-care and social support. Joining a support group where you can connect with others in similar situations may be helpful. Together, you can celebrate milestones and share advice when things get hard.

• #53 Experts Detail Best Strategies for Angelman Care in New GuidelinesEnvelope icon

  https://angelmansyndromenews.com/news/experts-detail-best-strategies-angelman-care-new-guidelines/

  An international team of experts has published a comprehensive document detailing the current best strategies to care for people with Angelman syndrome. […] It generally is recommended that children with Angelman syndrome start physical, occupational, and speech therapies as early as possible, and continue these supportive interventions throughout their lives. […] Clinical experience suggests that about three in four Angelman patients is able to be toilet trained. “Regular toilet visits, diaper removal, positive reinforcement, and close monitoring contribute to success” in toilet training, the experts wrote, also noting the importance of doing all toilet-related activities, including diaper changes, in the bathroom. […] As children with Angelman syndrome transition into adulthood, special care is recommended to set them up for success as much as possible.

• #54 Experts Detail Best Strategies for Angelman Care in New GuidelinesEnvelope icon

  https://angelmansyndromenews.com/news/experts-detail-best-strategies-angelman-care-new-guidelines/

  The experts stressed the importance of breathable clothing, and strategies to reduce excessive heat like having fans or cool beverages available. […] Angelman patients should be given all vaccinations recommended for the general population. […] The experts hope their document will become “a framework for providers of all familiarity levels.” […] “Standards of care in the management of [Angelman syndrome] are keys to ensure optimal care at a critical time when new disease-modifying therapies are emerging,” they wrote.

• #55 Hope for Angelman Syndrome Cure and Treatment

  https://cureangelman.org/hope-for-a-cure

  Currently, treatments for AS are generally targeted to the symptoms each individual is experiencing. For example, individuals experiencing seizures should receive treatment(s) directed at reducing or eliminating the seizures. […] In 2022, a consensus statement on care in AS was published, offering valuable guidance to health care providers about managing symptoms and preventative care for individuals living with Angelman syndrome. […] There is currently no cure for Angelman syndrome. However, research is actively progressing, aimed at developing potential therapeutics to improve symptoms and addressing the underlying cause of AS, the missing UBE3A protein in the brain. […] FAST is dedicated to funding innovative research and high-risk, high-reward research aimed at accelerating the development of new therapeutic strategies. […] These efforts not only aim to improve the quality of life for individuals living with Angelman syndrome but also have the potential to positively impact the lives of thousands of individuals worldwide who are affected by similar neurogenetic conditions.

• #56 Answers for Children With Angelman Syndrome | Cedars-Sinai

  https://www.cedars-sinai.org/blog/answers-for-children-with-angelman-syndrome.html

  Communication devices are a key tool in the treatment arsenal, according to Ochoa-Lubinoff. Assistive programs on tablets or computers use pictures, symbols, letters and speech generators to fill in language gaps, helping Angelman syndrome patients communicate wants and needs. […] Progress is often painstakingly slow, and patients with Angelman syndrome are dependent on round-the-clock care and support for the rest of their lives. […] Ochoa-Lubinoff hopes to bring clinical trials for these and other drugs to the new Angelman Syndrome Clinic at Guerin Childrens and then expand treatment access widely.

• #57 Angelman Syndrome Clinic | NYU Langone Health

  https://nyulangone.org/locations/comprehensive-epilepsy-center/angelman-syndrome-clinic

  The Angelman Syndrome Clinic at NYU Langones Comprehensive Epilepsy Center provides high-quality medical care to people living with Angelman syndrome, a rare genetic disorder that is most often diagnosed in children between the ages of 2 and 5. […] Individuals with Angelman syndrome require lifelong medical care. […] Our care for people with Angelman syndrome is focused on treating the individual symptoms that are unique to each patient. […] Specialty visits are coordinated to address the various medical and psychosocial needs of each patient and family, and can include referral to a gastroenterologist, speech pathologist, physical therapist, occupational therapist, and geneticist, among others. […] As part of our commitment to improving the lives of patients and families living with Angelman syndrome, our medical team participates in the latest clinical research protocols and trials.

• #58

  https://link.springer.com/article/10.1007/s10578-020-01051-z

  Our final conceptual model captures seven key disease-defining concepts in AS that are also important treatment targets: seizures, sleep disturbances, limited expressive communication, impaired motor skills, disruptive behaviors, cognition, and limited self-care abilities. […] Clinicians should therefore prioritize symptoms in those areas for treatment.

• #59 Angelman syndrome | healthdirect

  https://www.healthdirect.gov.au/angelman-syndrome

  Angelman syndrome can’t be cured, but there is a range of therapies that can improve your child’s quality of life. […] Your child will need life-long care to help them achieve the best possible quality of life. Ideally, this care should be provided by a team of healthcare professionals. […] Special education and therapy programs can help people with Angelman Syndrome to communicate and develop skills for daily life. […] People with Angelman Syndrome can’t live independently. But with support, they can be socially active, enjoy activities and continue to thrive. […] People with Angelman syndrome can have good general health and a near-normal life expectancy. […] Angelman syndrome can’t be cured. However, there are a range of therapies that can help improve your child’s quality of life: speech therapy and communications and social skills training, occupational therapy, physical therapy to improve posture, balance and movement, physical supports such as back or leg braces, supportive education, medicines to control seizures, such as antiepileptic medicines, therapy to help behavioural problems such as hyperactive behaviour.

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