Materiały źródłowe

• #1 Noonan Syndrome | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/n/noonan-syndrome

  Management of a patient with Noonan syndrome is specific to the individuals features. […] There is no cure for Noonan syndrome, but several interventions and therapies are available. Management is individually tailored to each patient, based on their specific clinical features. […] Early intervention services including physical, occupational, and / or speech therapy may be recommended for an individual with delayed development. […] Individuals with bleeding disorders should be followed by a specialist called a hematologist. Medication may be given to reduce the risk for abnormal bleeding. […] Other specialists may be involved in the care of individuals with Noonan syndrome, depending on the specific complications or symptoms of that person.

• #2 Noonan Syndrome | Boston Children’s Hospital

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

  Noonan syndrome is a genetic condition that can affect many different areas of the body and development. Children who have Noonan syndrome often have recognizable facial features and physical characteristics such as short stature. Delays in reaching developmental milestones like first words or walking are common. It can also affect many other parts of the body, including the heart, eyes, kidneys, digestion, hearing, and growth. […] There is no cure for Noonan syndrome, but individual symptoms can be addressed by different providers, including cardiologists, ophthalmologists, endocrinologists, and developmental specialists. A child with a new diagnosis may have several evaluations with many different specialists to make sure they receive appropriate and prompt care, if needed. […] A care plan for a child who has Noonan syndrome depends on their specific needs. Many will need evaluations with a variety of different specialists. Our team at the Center for Cardiovascular Genetics has extensive expertise caring for children who have Noonan syndrome. We facilitate referrals to appropriate Boston Children’s programs and specialists based on your child’s specific needs.

• #3 Noonan Syndrome (Leopard Syndrome): Causes & Outlook

  https://my.clevelandclinic.org/health/diseases/17926-noonan-syndrome

  Noonan syndrome has no cure. But effective treatments can help you and your child manage symptoms. […] Your child’s healthcare team develops a treatment plan for Noonan syndrome based on your child’s symptoms and their severity. Your child may receive: Assistive devices such as eyeglasses or hearing aids. Behavior or speech therapy. Educational support for learning disabilities. Medication to ease problems with your child’s heart, treat bleeding or improve slowed growth. Growth hormone therapy. Supportive therapies, such as compression therapy for lymphedema. […] In some cases, your healthcare provider may recommend surgery. Early diagnosis is important for effective treatment and follow-up care. […] Your care team will recommend a treatment that’s right for your child. They’ll monitor and adjust medications or therapies based on your child’s condition and any side effects they’re having.

• #4

  https://www.nhs.uk/conditions/noonan-syndrome/treatment/

  There’s no single treatment for Noonan syndrome, but it’s possible to treat many aspects of the condition. […] Your child may initially need quite a lot of treatment and support to help manage the various problems they have. […] The treatment your child needs will depend on the type of heart defect they have and how severe it is. […] Treatment usually starts at around 4 or 5 years of age and continues until your child stops growing. […] In children with Noonan syndrome, weak muscles in the mouth can sometimes cause speech and feeding problems. […] If you have a baby boy with an undescended testicle, or testicles that don’t descend naturally within a few months of birth, corrective surgery is usually recommended. […] A surgical procedure known as an orchidopexy is the usual treatment for undescended testicles. […] To ensure your child gets the support they need, an Education, Health and Care (EHC) plan may need to be drawn up. […] Find out about the treatment for some of the other problems that can affect people with Noonan syndrome.

• #5 Noonan Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK532269/

  Noonan syndrome is typically a genetically inherited disorder with heterogeneous phenotypic manifestations that can change with age. […] This activity describes the evaluation, diagnosis, and management of Noonan syndrome and stresses the role of team-based interprofessional care for affected patients. […] Management of Noonan syndrome is targeted toward symptomatic improvement and supportive care. Interprofessional care is often needed; multiple organ systems are to be addressed. […] Hearing tests and ophthalmic exams are appropriate throughout childhood. […] For congenital heart defects, an echo and ECG should be obtained. […] Even in patients without a diagnosis of cardiac defects, a cardiac evaluation is needed every 5 years. […] Appropriate supportive measures can be used to target lymphedema. […] The diagnosis and management of Noonan syndrome require an interprofessional team that includes a geneticist, pediatrician, primary care provider, ENT surgeon, audiologist, ophthalmologist, and cardiologist.

• #6 Noonan Syndrome: Symptoms & Causes | NewYork-Presbyterian

  https://www.nyp.org/pediatrics/noonan-syndrome

  Noonan syndrome has many symptoms and complications, so it takes a team of specialists to provide comprehensive care. […] Treatment at an early age is important for children with Noonan syndrome to live long and healthy lives.

• #7 Noonan Syndrome (Pediatric) | ColumbiaDoctors

  https://www.columbiadoctors.org/treatments-conditions/noonan-syndrome-pediatric

  Care for children with Noonan syndrome is multidisciplinary and they should be evaluated and followed by a clinical geneticist, a cardiologist, an orthopedist, and an endocrinologist. […] Some children with Noonan syndrome will benefit from treatment with growth hormone to help with their growth.

• #8 What Is Noonan Syndrome? | PEMC of Florida

  https://www.toplinemd.com/pemc-florida/what-is-noonan-syndrome/

  Noonan Syndrome is a rare genetic disorder that may be life-threatening but is highly treatable with regular medical care from a genetic disorder doctor and a team of specialists. […] Noonan Syndrome is treated by treating the symptoms it causes, such as medications or surgeries for congenital heart disease or growth hormone therapy for stature and growth. Heart disease is the most critical element to Noonan Syndrome life expectancy. if the heart disease is not too severe or is well-managed, Noonan Syndrome life expectancy can be on par with the general population. […] If your child is diagnosed with Noonan Syndrome, it is crucial to assemble a team for their care. This will begin with your pediatrician and genetic disorder doctor. From there, you may want to find a cardiologist to keep your child’s heart healthy, eye and/or ear doctors, as well as specialists who can help with learning disabilities or behavioral issues, genital or fertility problems, and dental and orthodontic care.

• #9 What Is the Life Expectancy of Someone With Noonan Syndrome?

  https://www.medicinenet.com/life_expectancy_of_someone_with_noonan_syndrome/article.htm

  The life expectancy of a person with NS is likely to be normal if serious heart defects are absent. About 50% of people with NS have a heart defect since birth such as a hole in the heart (patent ductus arteriosus), heart valve hardening (stenosis), etc. […] However, with special care and counselling, the majority of children with NS grow up and function normally as adults. […] Currently, there is no cure for Noonan syndrome (NS). However, the multidisciplinary treatment approach and proper management of disease conditions may ease some of the associated issues with NS. […] Because every NS child shows variability in presentation, multidisciplinary care is necessary to manage these conditions. It is essential that conditions such as developmental disabilities are identified and addressed early and managed carefully.

• #10 Noonan Syndrome | Children’s Hospital Colorado

  https://www.childrenscolorado.org/conditions-and-advice/conditions-and-symptoms/conditions/noonan-syndrome/

  Noonan syndrome is a genetic disorder that affects the whole body, including the heart, blood vessels, skeletal system, eyes, ears and brain. […] Noonan syndrome in a child can affect their heart by causing hypertrophic cardiomyopathy (thickening of the heart muscle), abnormalities of the heart valves including pulmonary valve stenosis and dilation of the aorta (the large vessel that carries oxygen to the body). […] In some cases, children with Noonan syndrome have more complex congenital heart disease that can require surgery in infancy or early childhood. […] Neither family-related Noonan syndrome nor spontaneous Noonan syndrome is preventable, but the symptoms of Noonan syndrome are very treatable. […] While there is no cure for Noonan syndrome, it is possible to treat nearly all its related symptoms.

• #11 Novel insights in Noonan syndrome

  https://www.oatext.com/novel-insights-in-noonan-syndrome.php

  Monitoring of anomalies found in any system is a paediatricians responsibility. […] In 2010 Dyscerne, a European consortium, developed management guidelines for different age groups. […] They suggest that every infant with NS must be referred to dietary assessment, full cardiac evaluation and renal echographic evaluation; they also consider measures of weight, height and occipital circumference at birth and monthly in order to investigate short stature. […] At the diagnosis, they recommend visual screening and to provide hearing assessment in the 2nd half of first year. […] During childhood, cardiac evaluation is necessary to rule out the onset of HCM: echocardiogram is carried out annually until the age of three and then at 5 and 10 years old and follow up is carried on in elderly ages, if no anomalies are shown. […] Coagulation system must be screened at least once during childhood and before any major surgery. […] In summary, there is no current indication to rhGH treatment in NS in European countries, even if it is widely used in clinical trials and practice all over Europe, given its safety outcomes.

• #12 Noonan syndrome

  https://www.mymlc.com/health-information/diseases-and-conditions/n/noonan-syndrome/

  Management of Noonan syndrome focuses on controlling the disorder’s symptoms and complications. […] Treatment of the symptoms and complications that occur with Noonan syndrome depends on type and severity. Many of the health and physical issues associated with this syndrome are treated as they would be for anyone with a similar health problem. Taken together, though, the many problems of this disorder require a coordinated team approach. […] Recommended approaches may include: Heart treatment. Certain drugs may be effective in treating some kinds of heart problems. If there’s a problem with the heart’s valves, surgery may be necessary. The doctor also may recommend that heart function be evaluated periodically. […] Treating low growth rate. Height should be measured three times a year until 3 years of age and then once every year until adulthood to make sure he or she is growing. To evaluate nutrition, the doctor will likely request blood tests. If your child’s growth hormone levels are insufficient, growth hormone therapy may be a treatment option.

• #13 Noonan Syndrome | AAFP

  https://www.aafp.org/pubs/afp/issues/2014/0101/p37.html

  Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. […] Most patients with Noonan syndrome are intellectually normal as adults, but some may require multidisciplinary evaluation and regular follow-up care. […] Age-based Noonan syndrome-specific growth charts and treatment guidelines are available. […] Management of patients with Noonan syndrome is optimized by adherence to age-specific guidelines that emphasize screening and testing for common health issues. […] Referral to a clinical geneticist for assistance in the diagnosis and management of Noonan syndrome may be helpful. […] Clinical growth charts are also available via a European network at http://www.dyscerne.org. […] System-based management guidelines to assist physicians caring for patients with Noonan syndrome and their families are provided.

• #14 Noonan syndrome | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/noonan-syndrome?content_id=CON-20199570

  Doctors manage Noonan syndrome by controlling the symptoms and complications. They may use a growth hormone to treat short height in some people with Noonan syndrome. […] Treatment for Noonan syndrome depends on the symptoms and complications and how serious they are. Many of the health and physical issues are treated the same as they would be for anyone else. Given the many problems with this condition, a coordinated team approach is best. […] A health care professional should measure height three times a year until age 3 and then once a year until adulthood. This will make sure your child is growing. To find out if there is a problem with nutrition, blood tests may be ordered. If your child’s growth hormone levels are not high enough, growth hormone therapy may be a treatment option.

• #15 Noonan Syndrome Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/947504-treatment

  Growth charts specific for Noonan syndrome are available and can be used to plot an individual’s height, weight, and head circumference. […] Careful follow-up evaluation of patients with Noonan syndrome is needed for early identification of bleeding diathesis, malignancy, and hypertrophic cardiomyopathy. […] The following consultations may be indicated in Noonan syndrome: Geneticist, Cardiologist, Hematologist, Ophthalmologist, Neurologist, Audiologist. […] Activity may be limited by cardiac status and the presence of hematologic abnormalities. […] If a causative mutation is found in patients, parental studies should be offered in order to distinguish familial cases from sporadic ones. […] Prenatal testing for Noonan syndrome can be considered in the absence of a family history when cystic hygroma is seen on ultrasonography and karyotyping of amniocytes is normal. […] Recurrence risk for parents who do not appear to be affected or who have only some facial features of Noonan syndrome is 5%.

• #16

  https://link.springer.com/article/10.1007/s40817-015-0005-5

  Noonan syndrome (NS) is a relatively common genetic syndrome with variable features including short stature, congenital heart disease, distinctive facial characteristics, skeletal anomalies, and varying degrees of developmental delay. […] Given the wide variety of possible cognitive and behavioral complications associated with NS, it is recommended that clinical neuropsychological evaluation of cognitive, adaptive, and psychological domains of functioning should be standard of care for all individuals with NS. […] The purpose of the current paper is to provide an up-to-date review of the literature on neurocognitive and behavioral functioning in individuals with NS and to discuss the implications of these findings for clinical assessment practices. […] Throughout childhood and adolescence, individuals with NS can have highly variable abilities in areas such as speech/language development, memory, visual processing, and academic skills. As a result, neuropsychological evaluation of individuals with NS must be comprehensive and cover a broad range of domains.

• #17 Noonan syndrome | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/noonan-syndrome?content_id=CON-20199570

  For early childhood developmental delays, ask your doctor or health care professional about infant stimulation programs. Physical and speech therapies may be needed. In some cases, special education or teaching strategies tailored to your child’s needs may be appropriate. […] If there’s a history of easy bruising or bleeding problems, do not use aspirin and aspirin-containing products. In some cases, doctors may prescribe drugs that help blood clot. Let health care professionals know about issues with bleeding and bruising before any procedures. […] Other evaluations and regular follow-up care may be needed. This depends on specific issues. Anyone with Noonan syndrome should have medical follow-up from time to time on an ongoing basis.

• #18 Noonan syndrome | healthdirect

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

  Noonan syndrome is a rare genetic condition present from birth. […] Treatment for Noonan syndrome focuses on managing symptoms and health complications. […] There is no cure for Noonan syndrome. Each person living with Noonan syndrome receives individualised treatment to help manage their symptoms and health complications. […] A health care team, made up of different medical professionals, may include specialist doctors and allied health professionals. They will work together to give the best care possible. […] Some possible treatments include the following: Physiotherapy to treat weak muscles. […] Speech therapy helpful if there is a delay in speech development. […] Growth checks your child will have extra height, weight and growth checks and your doctor will prescribe growth hormone (GH) therapy if they need it. This will help them grow to normal height.

• #18 Noonan syndrome | healthdirect

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

  Blood tests because some people with Noonan syndrome have problems with normal blood clotting, extra blood tests are needed after diagnosis, at 5 years old and before any procedure or surgery. […] Most children with Noonan syndrome go on to lead normal lives in adulthood. A child newly diagnosed with the disorder may need a number of treatments. They may also need regular tests to monitor their condition over time. […] If you or your child have a diagnosis of Noonan syndrome and you have concerns, talk to your doctor. […] Visit the Noonan Syndrome Awareness Association to learn about available support.

• #19

  https://link.springer.com/article/10.1007/s40817-015-0005-5

  It is clear that there are myriad ways in which both physical health aspects of NS and neuropsychological deficits can impact academic functioning and attainment of educational goals. […] Most individuals with NS would be expected to qualify for special education services to provide support for their learning needs. […] During school-aged years, individualized or small-group special education instruction may be needed to address learning difficulties, depending on the needs of the individual child. […] A number of rehabilitation therapies may be needed to address developmental delays and support progress. […] For children with severe gastrointestinal and feeding issues, referral to a speech/language pathologist or feeding specialist is advised. […] It is advisable that assessment of memory examines both visual and verbal memory.

• #20 Noonan syndrome

  https://www.mymlc.com/health-information/diseases-and-conditions/n/noonan-syndrome/

  Addressing learning disabilities. For early childhood developmental delays, ask the doctor about infant stimulation programs. Physical and speech therapies may be helpful for addressing a variety of possible issues. In some cases special education or individualized teaching strategies may be appropriate. […] Vision and hearing treatments. Eye exams are recommended at least every two years. Most eye issues can be treated with glasses alone. Surgery may be needed for some conditions, such as cataracts. Hearing screenings are recommended annually during childhood. […] Treatment for bleeding and bruising. If there’s a history of easy bruising or excessive bleeding, avoid aspirin and aspirin-containing products. In some cases, doctors may prescribe drugs that help the blood to clot. Notify your doctor before any procedures.

• #21 Noonan Syndrome | Lurie Children’s

  https://www.luriechildrens.org/en/specialties-conditions/noonan-syndrome/

  There is no single treatment for Noonan syndrome. Treatment plans are created by a healthcare team with input from the patient and their family. […] Specific recommendations for care may also depend on age. Follow up with specialists can help inform appropriate screening and testing recommendations for common health issues that may affect someone with Noonan syndrome. […] Early intervention programs are a useful support resource to help address the developmental differences often seen in children with Noonan syndrome. In some cases, children with Noonan syndrome may need additional support in school and benefit from an individualized education program (IEP).

• #22 Families living with Noonan Syndrome call for more social support and medical awareness | News and events | Loughborough University

  https://www.lboro.ac.uk/news-events/news/2024/february/noonan-syndrome-awareness-report-families-impact/

  Dr Coveney and the Noonan Syndrome Association are calling for greater Noonan Syndrome awareness, especially among medical professionals. […] Further research into the social and emotional impacts of living with the condition is needed. […] Enhanced support systems and more social opportunities for individuals and families living with Noonan Syndrome are also necessary. […] The Noonan Syndrome Association supports families and individuals living with the condition by providing valuable information and resources, including essential webinars hosted by medical experts, and hosting social gatherings, such as Family Days, where people can connect. […] The family are advocating for greater awareness and increased social support for those living with the condition.

• #23

  https://111.wales.nhs.uk/Noonansyndrome/

  In children with Noonan syndrome, weak muscles in the mouth can sometimes cause speech and feeding problems. They may be referred to a speech therapist for help and support. […] If you have a baby boy with an undescended testicle, or testicles that don’t descend naturally within a few months of birth, corrective surgery is usually recommended. […] If your child is diagnosed with a learning disability, it doesn’t necessarily mean they can’t be taught in a mainstream school. However, children with more severe disabilities may benefit from attending a specialist school.

• #24 Noonan syndrome | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-2-4

  With special care and counselling, the majority of children with NS will grow up and function normally in the adult world. Management should address feeding problems in early childhood, evaluation of cardiac function and assessment of growth and motor development. Physiotherapy and/or speech therapy should be offered if indicated. […] The majority of children with NS will grow up and function normally in the adult world. However, they need special care and counselling. Below is a set of guidelines designed to assist physicians caring for NS patients and their families. Familiarity with the characteristic features of NS is clearly important for clinical geneticists, cardiologists, surgeons, anaesthetists, gynaecologists, paediatricians and dermatologists. Issues that need to be addressed at a given age are discussed. […] Offer extensive genetic counselling to the parents. […] The prognosis for NS patients with JMML is better than that for non-NS patients with JMML.

• #25 Noonan syndrome

  https://www.mymlc.com/health-information/diseases-and-conditions/n/noonan-syndrome/

  Treatment for lymphatic problems. Lymphatic problems can occur in many ways and may not require treatment. If they do require treatment, your doctor can suggest appropriate measures. […] Treatment for genital problems. If one or both testicles haven’t moved into proper position within the first few months of life (undescended testicle), surgery may be needed. […] Other evaluations and regular follow-up care may be recommended depending on specific issues, for example, regular dental care. Children, teens and adults should continue to have ongoing, periodic evaluations by their health care professional.

• #26 Noonan Syndrome – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/noonan-syndrome/

  Some people with Noonan syndrome may also be shorter than average. In such cases, they may receive treatment for growth hormone. Under the supervision of a health professional, they can use different strategies to cope with lymphedema, a condition that causes swelling in the bodys tissues. […] The disease can lead to some serious problems. One of them is delayed development that can affect the patients ability to function normally. This requires the patient to get a great deal of support to cope with the condition. […] On the physical side, there may be severe heart abnormalities, like valve narrowing or thick heart muscle, which would need continuous medical attention. A few patients might have bleeding disorders, resulting in frequent medical appointments to manage the risk of excessive bleeding.

• #27 Noonan Syndrome – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/noonan-syndrome/

  Noonan syndrome is a disease passed down through families, and unfortunately, there is no cure. However, there are strategies to manage the symptoms and provide care support. This often involves a team of health professionals because the condition can affect multiple parts of the body. […] Regular checks on the patients hearing and eyesight are recommended throughout their childhood. In boys, if the testicles have not moved into the scrotum by the time they are 1 year old, a procedure known as orchiopexy may be necessary. This is important because it reduces the risk of testicular cancer in later life. […] Heart problems, like congenital heart defects, may be present in some people with Noonan syndrome. To monitor this, an ultrasound of the heart (echo) and ECG (a test that measures the electrical activity of the heart) are required. Even in people who do not have any heart defects, it is recommended to have these heart checks every 5 years.

• #28 Noonan Syndrome | Children’s Hospital Colorado

  https://www.childrenscolorado.org/conditions-and-advice/conditions-and-symptoms/conditions/noonan-syndrome/

  Our hematologists can treat any bleeding complications your child may develop as a result of Noonan syndrome. […] Our pediatric surgeons are trained specifically to treat children, and this includes children with skeletal complications like the chest wall abnormalities that often accompany Noonan syndrome. […] Our endocrinologists can assist with hormone abnormalities like hypothyroidism (low thyroid hormone production) or provide growth hormone treatment to improve short stature. […] Our audiologists and ENTs can monitor for hearing loss and treat conditions affecting the ear, nose and throat like frequent ear infections and sleep apnea. […] At our Heart Institute, we can monitor and treat any of the cardiac complications that occur with Noonan syndrome. […] In some cases, our cardiothoracic surgeons may recommend surgery to fix congenital heart disease or valve abnormalities. […] We hold a clinic every month to address the needs of children with Noonan syndrome.

• #29 Genetics Care, Close to Home…(Noonan Syndrome) – Genetics in Wisconsin – UW–Madison

  https://geneticsinwisconsin.wisc.edu/2017/05/20/genetics-care-close-to-home-noonan-syndrome/

  Over the next five months, Morgans feeding issues did not improve. […] Finally, a team of professionals suggested that Morgan may have Noonans Syndrome. […] Dr. Wargowski confirmed the diagnosis of Noonan Syndrome. […] Wynne and Dr. Wargowski were again very supportive. They helped us learn about Noonans. […] It is a great advantage to have Were For U and the Genetics Clinic to turn to for help and support.

• #30 Noonan syndrome | Better Health Channel

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

  Currently there is no cure, but symptoms of Noonan syndrome can be medically managed. Your childs health care team will coordinate various management strategies for different symptoms. These can include cardiac monitoring for heart irregularities, medication for blood clotting, and speech and educational interventions for any learning difficulties they may experience. […] Treatment and condition management aims to ease some of the associated issues. If your child has been diagnosed with Noonan syndrome their treatment may include: for a mild heart irregularity, it may be enough to carefully monitor your child on an outpatient basis, surgical correction of any severe heart structural anomalies, if feeding is a problem, your baby may be fed by nasogastric tube (a tube threaded into the nose, down the oesophagus and into the stomach), prescription glasses to correct short-sightedness, regular injections of growth hormone to help your child achieve a height closer to that typical for their age, surgical correction of undescended testicles (orchidopexy), anticonvulsant medication if your child experiences seizures, speech therapy, special education this is necessary for about 10 per cent of children with Noonan syndrome, behaviour management if appropriate, treatment to manage mild blood-clotting problems, dental and orthodontic treatment, if glue ear is a problem, it can be managed with an operation to insert drainage tubes (grommets).

• #31

  https://link.springer.com/article/10.1007/s40817-015-0005-5

  Children with NS will often require speech and language therapies to address articulation and language delays. […] Special attention should be given to assessment related to the experience of pain. […] In terms of risk factors for adaptive impairments, gestational age at birth has been found to be a significant predictor of adaptive functioning, such that children with NS and CFC syndrome who were born preterm are at a higher risk for adaptive delays than those born full-term. […] A final component that may be of great importance in assessment of individuals with NS is the issue of sleep duration and quality.

• #32 What Is Noonan Syndrome? | PEMC of Florida

  https://www.toplinemd.com/pemc-florida/what-is-noonan-syndrome/

  A strong support system is also critical for individuals and families dealing with chronic disorders. This can include friends and family, a genetic counselor, psychologists and psychiatrists, and support groups. […] Noonan Syndrome is not a death sentence. While some symptoms may be life-threatening, overall, this genetic disorder is highly treatable and manageable. The best thing you can do for your child if you suspect, or they have recently been diagnosed with Noonan Syndrome is to bring them to a knowledgeable and trustworthy specialist in genetic diseases and pediatric endocrinology.

• #33 New Research highlights challenges and support needs for families living with Noonan Syndrome | News and events | Loughborough University

  https://www.lboro.ac.uk/news-events/news/2025/february/support-for-families-coping-noonan-syndrome/

  Families need better access to emotional and practical support following diagnosis. A dedicated liaison role in clinical genetics teams could help guide parents through available resources. […] Caregiving for a child with complex needs takes a significant emotional toll. More structured mental health support, including counselling, should be available to families. […] Families experience frustration due to fragmented healthcare services. Greater continuity in care is needed to build trust and reduce stress. […] Many children with NS require tailored learning support. The study calls for the development of specific guidelines for teachers to better meet their needs. […] Parents report the current EHCP process as overly complicated and stressful. The system requires reform to better assist families.

• #34 New Research highlights challenges and support needs for families living with Noonan Syndrome | News and events | Loughborough University

  https://www.lboro.ac.uk/news-events/news/2025/february/support-for-families-coping-noonan-syndrome/

  Employers should offer formal policies such as paid carers leave and flexible working arrangements to help parents balance employment and caregiving. […] Families often struggle to find information on financial aid and support services, highlighting the need for better signposting. […] Repeated hospital visits and medical procedures have lasting psychological effects. Hospitals should consider the unique needs of children with NS and their caregivers. […] Beyond medical challenges, families need opportunities to create joyful memories and build fulfilling lives. […] The study emphasizes that while Noonan Syndrome presents ongoing challenges, families can thrive with the right support. […] Managing the medical issues associated Noonan Syndrome is just one aspect of living with this rare genetic condition.

• #35 Noonan Syndrome – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/noonan-syndrome/

  Parents, and later on the patients themselves, would greatly benefit from extra help and support to ensure the best possible development in their condition. Its a good idea to get in touch early with a specific group known as the Noonan Syndrome Support Group (NSSG). This group, which is available to everyone, specializes in offering help and advice to patients affected by this condition.

• #36 Families living with Noonan Syndrome call for more social support and medical awareness | News and events | Loughborough University

  https://www.lboro.ac.uk/news-events/news/2024/february/noonan-syndrome-awareness-report-families-impact/

  A survey of more than 60 families living with Noonan Syndrome has highlighted the need for more social support and medical awareness. […] One of the key survey findings is that there is a lack of awareness of the rare genetic condition even among medical professionals, which can lead to difficulties in accessing care. […] Another theme that emerged is that the social and emotional impacts of living with Noonan Syndrome are overlooked for individuals and carers. […] Families have told us of experiences of poor support from professionals in their lives, lack of understanding about the realities of living with Noonan Syndrome, and difficulties in accessing care. […] The majority of parent carers in our study were not able to find paid employment that fits around their caring responsibilities, which can lead to financial pressures and stress.

• #37 Health outcomes and drug utilisation in children with Noonan syndrome: a European cohort study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-025-03594-7

  Children and adults with NS need to receive regular medical care and follow-up to monitor and manage their health. […] It is necessary that different paediatric subspecialties are familiar with the health burden and course of NS to ensure appropriate parental counselling, multidisciplinary monitoring and treatment. […] Hospitalisation may be necessary for those who experience complications related to their condition, such as congenital heart defects, feeding problems and failure to thrive in the first year of life. Some individuals with NS may require surgical procedures. […] The expected frequency of surgery is an important information for healthcare providers, clinicians and parents to children with NS. […] The results of the study provide information to evaluate the health burden for children diagnosed with NS that is important for parental counselling and the planning of healthcare services. […] Efforts must be made to support families throughout the childhood of children born with NS.

• #38 Best Countries for Noonan Syndrome Care | Medical Tourism Magazine | Medical Travel | Health Tourism

  https://www.magazine.medicaltourism.com/article/best-countries-for-noonan-syndrome-care

  Noonan Syndrome, a genetic disorder that affects various parts of the body, requires specialized and comprehensive medical care. […] The syndrome can vary widely in severity, necessitating a multidisciplinary approach to treatment that includes cardiology, endocrinology, genetics, and developmental therapies. […] Access to multidisciplinary teams and long-term patient support services is essential for managing the complexities of Noonan Syndrome. […] The U.S. is home to numerous specialized centers focusing on genetic disorders and pediatric cardiology, providing comprehensive care for Noonan Syndrome patients. […] U.S. hospitals often have multidisciplinary teams comprising cardiologists, endocrinologists, geneticists, and developmental specialists, ensuring holistic care for patients.

• #39

  https://111.wales.nhs.uk/Noonansyndrome/

  Noonan syndrome is a genetic condition that can cause a wide range of distinctive features and health problems. […] Your child may initially need quite a lot of treatment and support to help manage the various problems they have. However, they’ll usually need much less care as they get older, because the condition tends to cause fewer problems in adulthood. […] There’s no single treatment for Noonan syndrome, but it’s possible to treat many aspects of the condition. […] A full assessment of your child’s heart function should be carried out when Noonan syndrome is diagnosed. This will help determine whether they have any type of congenital heart disease. […] Your child’s size and growth rate will be regularly assessed throughout their childhood. If their growth rate is thought to be seriously reduced, treatment with human growth hormone may be suggested.

• #40 Noonan Syndrome | Dayton Children’s Hospital

  https://www.childrensdayton.org/kidshealth/a/noonan-syndrome

  There’s no cure for Noonan syndrome, but medical care can help with almost every symptom. […] A team of doctors, nurses, therapists, and social workers provide care for a child with Noonan syndrome. […] The medical challenges of Noonan syndrome can be stressful for your child and you. But you’re not alone. The care team will work together to help manage problems, and to support your family.

• #41 Noonan Syndrome | Rady Children’s Hospital

  https://www.rchsd.org/health-article/noonan-syndrome/

  Noonan syndrome is a condition that some babies are born with. It causes changes in the face and chest, usually includes heart problems, and slightly raises a childs risk of blood cancer (leukemia). […] Theres no cure for Noonan syndrome, but medical care can help with almost every symptom. […] A team of doctors, nurses, therapists, and social workers provide care for a child with Noonan syndrome. […] The medical challenges of Noonan syndrome can be stressful for your child and you. But youre not alone. The care team will work together to help manage problems, and to support your family.

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