Materiały źródłowe

• #1 Angelman Syndrome – StatPearls – NCBI Bookshelf

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

  The incidence of Angelman syndrome (AS) varies from 1 in 20,000 to 1 in 12,000 live birth. There is no gender preference, and AS affects males and females equally. However, many cases may go undiagnosed due to the underreporting of cases and misdiagnosis. […] The management of Angelman syndrome (AS) is mainly symptomatic as there is no curative treatment till now. Early diagnosis and early, consistent treatment using speech, physical, and occupational therapy has shown improvement in prognosis.

• #2 Angelman Syndrome – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1144/

  Angelman syndrome (AS) is characterized by severe developmental delay or intellectual disability, severe speech impairment, gait ataxia and/or tremulousness of the limbs, and unique behavior with an apparent happy demeanor that includes frequent laughing, smiling, and excitability. […] The diagnosis of AS is established in a proband who meets the consensus clinical diagnostic criteria and/or who has findings on molecular genetic testing that suggest deficient expression or function of the maternally inherited UBE3A allele. […] Surveillance: Monitor for new seizures and/or changes in seizures, developmental progress, behavior issues, mobility, motor skills, gastroesophageal reflux, constipation, and feeding issues at each visit. Evaluation of older children for obesity associated with an excessive appetite. Annual clinical examination for scoliosis; ophthalmology examination in the first year if strabismus is present; ophthalmology exam at age two years with follow up per ophthalmologist; clinical examination for scoliosis annually. […] The population prevalence of AS is estimated at 1:12,000-1:24,000.

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

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

  Angelman syndrome is rare. It affects approximately 1 in 12,000 to 20,000 people. […] The characteristic symptoms of Angelman syndrome aren’t usually apparent at birth. Healthcare providers typically diagnose it in children between one and four years of age. […] Noninvasive prenatal screening (NIPS) may diagnose Angelman syndrome before birth. […] Most cases aren’t inherited and happen randomly, without any history of the condition in your biological family. […] Angelman syndrome can’t be prevented because it happens due to random genetic changes during fetal development. In most cases, this happens without a known cause. […] Many people diagnosed with Angelman syndrome have a typical life expectancy. This means that having Angelman syndrome doesn’t mean someone will die sooner than someone without it.

• #4 How Common Is Angelman Syndrome in the Population?Envelope icon

  https://angelmansyndromenews.com/health-insights/how-common-is-angelman-syndrome/

  Angelman syndrome cases have been reported in different countries and among people of varying ethnic origins. The majority of cases in North America have been found in people of Caucasian descent. Over the years, there have been varying estimates of Angelman’s prevalence — or how common the disease is among the general population. […] Several studies in children have attempted to find better estimates of how common Angelman is in that population. Initial estimates were around 1 in 20,000 people. […] Since there is such a range in estimates, the Angelman Syndrome Foundation recommends using a prevalence estimate of 1:15,000. […] Several efforts are underway to get a better estimate of how common Angelman syndrome is in current populations. […] A large study was announced by Australian researchers in 2018 that will involve extensive screening for a host of genetic diseases. […] There also are efforts underway, including in Europe, to make Angelman syndrome and other rare genetic diseases a standard part of newborn screenings.

• #5 What is Angelman Syndrome?

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

  Angelman syndrome (AS) is a rare neurogenetic disorder that affects about one in 15,000 people, or approximately 500,000 individuals worldwide. Some say it could be as frequent as one in 8,000 people, or over 1,000,000 individuals worldwide. […] Progress for Angelman Syndrome Relies on a Strong NIH and FDA […] Community Update: New Insights into Health and Prevention in Angelman Syndrome […] The Economic Burden of Caring for Individuals with Angelman Syndrome.

• #6 What is Angelman Syndrome – Angelman Syndrome Foundation

  https://www.angelman.org/what-is-as/

  Angelman syndrome (AS) is a rare neuro-genetic disorder that occurs in one in 15,000 live births or 500,000 people worldwide. […] It became clear the syndrome was more common than previously thought.

• #7 Angelman syndrome | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/angelman-syndrome?lang=us

  The reported estimated incidence can variable ranging from around 1 in 20,000 to 1 in 12,000 live births. No definite gender predilection has been described.

• #8 Angelman syndrome Market and Epidemiology forecast

  https://www.delveinsight.com/blog/angelman-syndrome-market

  As per DelveInsight estimates, the total Angelman syndrome prevalent population in the seven major markets was 58,351 in 2017. The estimates suggest higher Angelman syndrome prevalence in the United States with 21,996 cases in 2017. […] Among the Europe 5 countries, Germany had the highest prevalent population of Angelman syndrome with 6,671 cases whereas Spain had the lowest prevalent population of 3,761 cases in 2017. The United States reported the largest Angelman syndrome market size when compared to EU5 (the United Kingdom, Germany, Italy, France, and Spain), and Japan.

• #9 Global Angelman Syndrome Market 2017-2030: Epidemiology, Pipeline, Drugs, Players – ResearchAndMarkets.com

  https://www.businesswire.com/news/home/20200804005681/en/Global-Angelman-Syndrome-Market-2017-2030-Epidemiology-Pipeline-Drugs-Players—ResearchAndMarkets.com

  This report delivers an in-depth understanding of the disease, historical and forecasted epidemiology as well as the market trends of Angelman Syndrome in the United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom), and Japan. […] In the US, the cases of Angelman Syndrome were found to be 21,715 in 2017. Moreover, the diagnosed cases of Angelman Syndrome were reported to be 19,543 in the United States. The United States accounts for the highest diagnosed cases of Angelman Syndrome. […] According to the publisher, the total prevalent population of Angelman Syndrome in seven major markets was 57,716 in 2017. These cases are expected to increase with a significant CAGR during the study period (2017-2030). Among all the seven major markets, the United States accounts for the highest Prevalent Cases of Angelman Syndrome cases.

• #10 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

  AS is diagnosed in 1/12000 to 1/20000 individuals in the general population. […] Unfortunately, there is no precise data regarding the prevalence of the syndrome in the Polish population. Due to the lack of an authoritative register of people with rare diseases, including AS in Poland, the actual estimation of the size of this patient population is a significant challenge. […] 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.

• #11 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. […] Affects about 1 in 10,000 people. […] There are no known risk factors for Angelman syndrome. […] The disorder is typically diagnosed at ages 6 to 12 months, when parents begin to notice developmental delays such as a lack of crawling or babbling. […] An ongoing Angelman syndrome Natural History Study seeks to improve our understanding of how development, behavior, and communication change in individuals with AS over the course of their lives.

• #12 Angelman syndrome | Better Health Channel

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

  Most diagnoses are made between the ages of two and five years of age. Estimates vary, but Angelman syndrome is thought to affect one child in every 10,000 to 20,000. […] In approximately 11 per cent of cases, the cause is not known.

• #13 Angelman’s Syndrome: Symptoms and Treatment | Doctor

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

  Its prevalence ranges from 1:12,000. Diagnosis is commonly made at age 3-7 years, when the clinical features and behaviours become apparent. […] In most cases the recurrence is extremely rare – less than 1%. However, some deletions are familial and carry a 50% risk of recurrence. When the UBE3A mutations are inherited from the mother’s paternally acquired allele then the recurrence risk is also 50%.

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

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

  Angelman syndrome, a rare neurodevelopmental condition, is hard to recognize. Few pediatric neurologists are familiar with the condition, which affects about 500,000 people around the world. And since it has similar symptoms to more widespread, better-known conditions, such as autism and cerebral palsy, its initially misdiagnosed in half of all cases, according to the Angelman Syndrome Foundation. […] The genetic variants that lead to Angelman syndrome are hard-wired before birth. The gene responsible for coding a protein that regulates key brain processes such as motion and communication malfunctions and fails to produce the protein. […] Genetic testing is the best way to detect the condition and distinguish it from autism when a child is still young, and it should be discussed at the childs diagnostic consultation.

• #15 Angelman Syndrome – EyeWiki

  https://eyewiki.org/Angelman_Syndrome

  Angelman Syndrome has an estimated prevalence of 1 in 12,000 to 24,000 individuals in the general population. The disorder affects males and females equally and is typically diagnosed in early childhood. It is possible that the true prevalence of the disorder may differ due to the potential for undiagnosed or underreported cases. […] The diagnosis of Angelman syndrome is typically made based on clinical features, genetic testing, and neuroimaging studies. The clinical features of AS can be variable and may overlap with other neurodevelopmental disorders such as autism spectrum disorder, making accurate diagnosis challenging. […] Genetic testing is an important tool for confirming the diagnosis of AS and identifying the underlying genetic mechanism. Chromosomal microarray analysis can detect maternal deletions or paternal UPD while methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) can detect imprinting defects.

• #16

  https://link.springer.com/article/10.1007/s41252-021-00195-w

  Angelman syndrome (AS) and is typically diagnosed in children under the age of three based upon early behavioural concerns identified by parents, or genetic links with other family members. […] The aim of this paper is to explore parents experiences of the pathway to diagnosis involving 394 children with formal diagnoses of AS. […] Data from the Global Angelman Syndrome Registry on the age of formal diagnosis, the process involved in formal diagnosis, professionals involved in the diagnosis, the number of tests taken and the prevalence of misdiagnoses were compared across deletion and non-deletion (UBE3A pathogenic variant, imprinting and patUPD) etiologies. […] Compared to those with deletion etiology, individuals with non-deletions are more likely to (a) receive a diagnosis later in childhood (i.e., past the age of 3 years old), (b) have a greater number of professionals and tests involved and (c) to be misdiagnosed with global developmental delay. […] The benefit of using parental report from registries to understand the diagnostic process and promote early and accurate diagnosis of AS is discussed.

• #17 Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment | Molecular Psychiatry

  https://www.nature.com/articles/s41380-020-0858-6

  Angelman syndrome (AS) is a rare genetic neurodevelopmental disorder with a prevalence of 1 in 10,000-24,000 births. Clinical characteristics of AS include global developmental delay, intellectual disability, epilepsy, and sleep difficulties. AS is due to the lack of expression of the maternal copy of UBE3A in the chromosome 15q11-q13 region. Deletions account for ~70% of all AS diagnoses, UBE3A pathogenic variants, IPD, and UPD for ~10% each. […] Using a statistical modeling approach and the largest sample of individuals with AS studied so far, we systematically investigated differences between AS genotypes for several cognitive and developmental domains, with a focus on standardized psychometric developmental tests and questionnaires. […] Our findings highlight the importance of taking genotype information into account in the clinical care and in clinical studies in patients with AS. Furthermore, we find that BSID-III (cognitive, communication, and motor domains), PLS-4 (communication domains) and some domains of the VABS-2 (communication, daily living skills, socialization, and motor domains) that capture clinical features reasonably well, show differentiation between genetic subgroups with different levels of impairment, and therefore may be useful as endpoints in this population.

• #18 Genotype–Phenotype Correlations in Angelman Syndrome

  https://www.mdpi.com/2073-4425/12/7/987

  Angelman syndrome (AS) is a rare neurodevelopmental disease that is caused by the loss of function of the maternal copy of ubiquitin–protein ligase E3A (UBE3A) on the chromosome 15q11–13 region. AS is characterized by global developmental delay, severe intellectual disability, lack of speech, happy disposition, ataxia, epilepsy, and distinct behavioral profile. This rare neurodevelopment disorder has a prevalence of 1 in 10,000–24,000 births. […] AS has four molecular mechanisms of etiology: (1) deletion of the maternal copy of chromosome 15q11–q13 (del15q11–13, 70%), (2) paternal uniparental disomy of chromosome 15q11–q13 (UPD, 2–7%), (3) imprinting defects within chromosome 15q11–q13 that disrupt the expression of maternally inherited UBE3A (3–5%), and (4) maternally inherited UBE3A mutations (10%).

• #19 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

  Angelman syndrome (AS) is considered a rare disorder, with a commonly reported prevalence of approximately 1:15,000 births. However, reported estimates based on recent studies using different methodology have reported incidence rates between 1:10,000 and 1:62,000. […] The prevalence of AS is generally estimated to be approximately 1:15,000 births, although the true prevalence is not well characterized. […] Additionally, approximately 10% of individuals with a clinical phenotype of AS do not have genetic confirmation of the syndrome. […] These studies, while valuable for providing estimates, provide only a sampling from the larger population, and therefore may not reflect the true incidence of the disorder.

• #20 Angelman syndrome: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/angelman-syndrome/

  Angelman syndrome affects an estimated 1 in 12,000 to 20,000 people. […] Most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. Affected people typically have no history of the disorder in their family. […] The causes of Angelman syndrome are unknown in 10 to 15 percent of affected individuals. Changes involving other genes or chromosomes may be responsible for the disorder in these cases.

• #21 New genes involved in Angelman syndrome-like: Expanding the genetic spectrum | PLOS One

  https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0258766

  Angelman syndrome (AS, OMIM #105830) is a neurogenetic disorder with a prevalence of about 1/15000 births. AS is characterized by severe developmental delay/intellectual disability (DD/ID) with absence of speech and distinctive dysmorphic craniofacial features such as microcephaly and wide mouth. Neurological problems include ataxia and seizures with specific electroencephalogram (EEG) abnormalities. The behavioral phenotype is characterized by happy disposition, frequent laughter, hyperactivity and stereotypies. […] However, for approximately 10-15% of clinically diagnosed AS patients, the genetic cause remains unknown (AS-like). […] Lack of molecular diagnosis in 10-15% of clinically diagnosed AS patients has been used to define the AS-like group. Our trio based WES approach demonstrates that the majority of these patients (78.5%) are carriers of pathogenic variants in genes involved in neurodevelopmental disorders whose features overlap with AS, highlighting the wide genetic heterogeneity in AS-like patients and expanding the differential diagnosis.

• #22 Genotype–Phenotype Correlations in Angelman Syndrome

  https://www.mdpi.com/2073-4425/12/7/987

  The clinical picture is variable in different genotypes. Generally, patients with a deletion type have a more severe phenotype, and those with UPD or imprinting defects have a less severe phenotype. […] Children with AS usually have normal prenatal and birth history, normal metabolic and hematologic, and chemical laboratory results. […] Several pilot newborn screening programs have been undertaken for the early diagnosis of AS. […] Early identification by newborn screening will not only achieve early efficient intervention but also will decrease costly medical evaluations. […] The risk of recurrence in parents of different genotypes is variable. In AS cases due to maternal deletion, the risk of recurrence is less than 1%; for cases with paternal UPD, the risk of recurrence is less than 1/200; however, for those rare cases of structural defects of chromosome 15, including Robertsonian translocation, the risk is as high of 100%. […] Therefore, genetic analysis should be undertaken in the cases together with parents for genetic consultation. […] Understanding the pathophysiology of the different genotypes and the genotype–phenotype correlations will offer an opportunity for individualized treatment and genetic counseling.

• #23 Outlook on the Worldwide Angelman Syndrome Market – Epidemiology Forecast to 2030 – ResearchAndMarkets.com

  https://www.businesswire.com/news/home/20201214005506/en/Outlook-on-the-Worldwide-Angelman-Syndrome-Market—Epidemiology-Forecast-to-2030—ResearchAndMarkets.com

  The „Angelman Syndrome Epidemiology Forecast to 2030” report has been added to ResearchAndMarkets.com’s offering. […] This report delivers an in-depth understanding of the disease, historical and forecasted Angelman Syndrome epidemiology in the 7MM, i.e., the United States, EU5 (Germany, Spain, Italy, France, and the United Kingdom), and Japan. […] The Angelman Syndrome epidemiology report gives a thorough understanding of the Angelman Syndrome by including details such as disease definition, symptoms, causes, pathophysiology, and diagnosis. […] The Angelman Syndrome epidemiology division provides insights about historical and current patient pool and forecasted trend for every seven major countries. […] The Angelman Syndrome epidemiology segment covers the epidemiology data in the US, EU5 countries (Germany, Spain, Italy, France, and the UK), and Japan from 2017 to 2030.

• #24 Angelman Syndrome Market Size, Trends and Forecast 2024-2034

  https://www.imarcgroup.com/angelman-syndrome-market

  The Angelman syndrome market has been comprehensively analyzed in IMARC’s new report titled „Angelman Syndrome Market: Epidemiology, Industry Trends, Share, Size, Growth, Opportunity, and Forecast 2024-2034”. […] According to the report the United States has the largest patient pool for Angelman syndrome and also represents the largest market for its treatment. […] Historical, current, and future epidemiology scenario […] What is the number of prevalent cases (2018-2034) of Angelman syndrome across the seven major markets? […] What is the size of the Angelman syndrome patient pool (2018-2023) across the seven major markets? […] What would be the forecasted patient pool (2024-2034) across the seven major markets? […] What are the key factors driving the epidemiological trend of Angelman syndrome? […] What will be the growth rate of patients across the seven major markets?

• #25 Confidence in biological medicines

  https://nibsc.org/science_and_research/advanced_therapies/genomic_reference_materials/prader_willi_and_angelman_(who).aspx

  Prader Willi (PWS; OMIM #176270) and Angelman (AS; OMIM #105830) syndromes are clinically distinct genetic disorders, both mapping to chromosome region 15q11-q13. […] The incidence of each syndrome is approximately 1 in 15 000, but may be underestimated due to the difficulty of clinical diagnosis, with either relatively non-specific findings particularly in infancy, or clinical overlap with many other disorders. […] Genetic testing for PWS and AS has become the standard diagnostic method since clinical criteria, though defined, are not always specific. […] The genes associated with PWS are usually only expressed on the paternally-inherited chromosome 15 whilst the maternally-inherited genes are inactivated. […] Conversely, the gene or genes associated with AS including UBE3A are usually only expressed on the maternally-inherited chromosome 15 whilst the paternally-inherited genes are inactivated.

• #26 Azthena logo with the word Azthena

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

  Angelman syndrome is a genetic disorder resulting in severe intellectual disability. […] This condition affects one in every 12,000 to 20,000 children and accounts for 6% of severely mentally disabled children who also have epilepsy. […] 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. […] Genetic counseling is necessary to assess the risk that siblings or other members of the extended family might have for Angelman syndrome. The risk of family members acquiring this condition is more than 50% when the causing factor is a mutation in the UBE3A gene; however, the risk is significantly lower when the condition is due to other mechanisms of chromosomal loss.

• #27 Confidence in biological medicines

  https://nibsc.org/science_and_research/advanced_therapies/genomic_reference_materials/prader_willi_and_angelman_(who).aspx

  There are several testing methods for the cytogenetic or molecular diagnosis of PWS and AS, the most common being DNA-based methylation testing for abnormal methylation in the chromosome 15q11-q13 region. This method will detect more than 99% of PWS individuals and approximately 80% of AS individuals. Sequence analysis of the UBE3A gene will detect a further approximate 10% of individuals with AS.

• #28 Angelman syndrome – wikidoc

  https://www.wikidoc.org/index.php/Angelman_syndrome

  The prevalence of Angelman syndrome is approximately 5-7 per 100,000 individuals worldwide. […] The exact incidence of Angelman syndrome is unknown, but its estimated to be between 6-7 per 100,000 births. […] Full spectrum of the disease appears usually before 3 years of age. […] Angelman syndrome affects men and women equally. […] There is no racial predilection for Angelman syndrome. […] There are no risk factors for developing Angelman syndrome, since most of the cases occur due to a de novo deletion and there is a very small chance for this condition to be hereditary transmitted. […] Prenatal screening of 15q11.2-q13 region mutations is possible through DNA and/or chromosomal/FISH analysis of fetal cells acquired by chorionic villus sampling or amniocentesis. […] Screening for Angelman syndrome-suspected patients can be made by the following tests: Karyotyping. Is warranted for any patient with suspected Angelman syndrome.

• #29 Angelman syndrome – wikidoc

  https://www.wikidoc.org/index.php/Angelman_syndrome

  Fluorescent in situ hybridization (FISH). May detect deletions, but not imprinting centers or uniparental disomy. […] Methylation test. May detect deletions, uniparental disomies, and imprinting mutations, but not UBE3A gene mutation. […] Paternal uniparental disomy (UPD) studies. Usually done after a normal FISH and methylation test. […] Ubiquitin-protein ligase E3A (UBE3A) mutations. Is performed in patients with clinical presentation of Angelman syndrome, but negative methylation test. […] Imprinting center (IC) mutations. Detects small deletions, but is only available in research centers.

• #30 Angelman Syndrome – Angelman Syndrome Association Australia

  https://angelmansyndrome.org/angelman-syndrome/

  Angelman syndrome (AS) is a rare genetic disorder that affects approximately 1 in 15,000 live births*. […] New, more widely available DNA microarray testing has made it easier to test for Angelman syndrome. […] Approximately 30% of cases will require further testing to confirm or rule out Angelman syndrome. […] AS is not a degenerative disease. People with AS can expect a normal lifespan.

• #31 Angelman Syndrome | Genetic Disorder | ForPatients by Roche

  https://forpatients.roche.com/en/trials/neurodevelopmental-disorder/angelman-syndrome.html

  Angelman Syndrome Foundation. What is Angelman syndrome. Accessed 28 November 2022. Available from: Link […] Keute M, Miller MT, Krishnan ML et al. Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment. Mol Psychiatry. 2021 Jul;26(7):36253633. Available from: Link […] Maranga C, Fernandes TG, Bekman E et al. Angelman syndrome: a journey through the brain. FEBS J. 2020 Jun;287(11):21542175. Available from: Link […] NHS. Angelman syndrome. Accessed 28 November 2022. Available from: Link […] Margolis SS, Sell GL, Zbinden MA et al. Angelman syndrome. Neurotherapeutics. 2015 Jul;12(3):641650. Available from: Link […] Angelman Syndrome Foundation. Testing and Diagnosis. Accessed 28 November 2022. Available from: Link […] Triono A, Iskandar K, Nugrahanto AP et al. The role of whole exome sequencing in the UBE3A point mutation of Angelman syndrome: a case report. Ann Med Surg (Lond). 2021 Dec;73:103170. Available from: Link

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

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

  „Less than 1% of Angelman cases have a visible genetic change on a standard test. However, using a combination of newer genetic tests, we can now find the underlying genetic cause in about 90% of casesdramatically speeding up diagnosis,” said Pedro Sanchez, MD, director of Pediatric Medical Genetics at Cedars-Sinai Guerin Childrens.

• #33 Symptoms, Causes, and Treatments of Angelman Syndrome

  https://www.verywellhealth.com/angelman-syndrome-overview-4171630

  Angelman syndrome is a rare genetic disorder characterized by significant developmental and intellectual disability, movement problems, seizures, sleep irregularities, and an atypically happy demeanor. Once referred to as „happy puppet syndrome” (a term now considered a pejorative), the condition affects one of every 15,000 births, according to the non-profit Angelman Syndrome Foundation. […] Because the condition is so rare, Angelman syndrome is frequently misdiagnosed as autism or cerebral palsy. […] While the diagnostic values for this remain contentious, the IQ of adults with Angelman syndrome is usually well below 70 for cognitive ability (meaning the capacity to comprehend and reason). […] While a genetic test can be used to confirm a UBE3A mutation and/or the deletion or inactivity of chromosome 15, as many as 20 percent of cases will have no evidence of a genetic cause. […] Without exception, early diagnosis allows you to pursue therapeutic options which may improve your child’s life and long-term development if started immediately.

• #34

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

  Angelman syndrome (AS) is a complex, heterogeneous, and life-long neurodevelopmental disorder. […] Population estimates report the prevalence of AS to be between 1 in 10,000 and 1 in 20,000. […] Despite being a reasonably well-characterized, complex, and severe condition, there is a paucity of literature reporting the impact of AS on individuals and their families. […] Currently there are no approved treatments specifically for AS, with standard care aimed at symptomatic relief through pharmacological and non-pharmacological approaches. […] A better understanding is needed of the key elements of AS and the impact of these elements on individuals and their families over their lifespan, to identify the areas of highest unmet need which warrant treatment. […] This insight can support the implementation of effective care coordination, to ensure that individuals with AS achieve the best outcomes possible.

• #35 The Therapeutic Window For Angelman Syndrome Patients May Be Broader Than Previously Reported | Texas Children’s

  https://www.texaschildrens.org/content/research/therapeutic-window-for-angelman-syndrome-patients-may-be-broader-than-previously

  Angelman syndrome is a rare neurodevelopmental disorder characterized by changes in brain structure, severe intellectual disability, impairments in speech, motor function, epilepsy, sleep, and unique behaviors that affects 1 in 10,000 to 24,000 people and for which no cure or treatment is currently available. […] Researchers at the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children’s Hospital and Baylor College of Medicine have now found that a gene therapy approach can effectively reverse key symptoms of this disorder in adult and juvenile rodent models, which demonstrates that the therapeutic age window for Angelman syndrome is much broader than reported previously and offers a new ray of hope for patients and their families impacted by this devastating disorder. […] Moreover, the study has revealed two clinically important biomarkers that can be used to evaluate the efficacy of this and other therapeutic approaches in future clinical trials for this disorder.

• #36 Japan Angelman Syndrome Therapeutics Market Report 2023 to 2030

  https://www.insights10.com/report/japan-angelman-syndrome-therapeutics-market-analysis/?srsltid=AfmBOopsyo_zwYVZaJKGRtIPJPgkOxYEWP5feUb7ECVoqGNRda_gP9-8

  In spite of the fact that there are currently no approved treatments for the uncommon neurogenetic disorder known as Angelman syndrome, Berent claims that his organization is advancing 13 potential treatments from mice to people, with a number of clinical trials already underway or scheduled to begin in the next 18 to 24 months. […] The market for treatments for Angelman syndrome is also constrained by a paucity of data on the illness’s prevalence and financial burden of care.

• #37 Angelman Syndrome | Genetic Disorder | ForPatients by Roche

  https://forpatients.roche.com/en/trials/neurodevelopmental-disorder/angelman-syndrome.html

  Roche. ForPatients by Roche. A study to investigate the safety of RO7248824 in children with Angelman syndrome and to understand the way the body processes the investigational therapy. Accessed 28 November 2022. Available from: Link […] Roche. ForPatients by Roche. Study to investigate the pharmacokinetics and safety and to provide proof of mechanism of alogabat in children and adolescents aged 5-17 years with Angelman syndrome (as) with deletion genotype. Accessed 28 November 2022. Available from: Link […] ClinicalTrials.gov. HALOS: A safety, tolerability, pharmacokinetics and pharmacodynamics study of multiple ascending doses of ION582 in participants with Angelman syndrome. Accessed 30 January 2023. Available from: Link […] Roche. ForPatients by Roche. A study to assess distribution of RO7248824 in the central nervous system following single intrathecal doses of [89zr] labeled RO7248824 in healthy male participants. Accessed 28 November 2022. Available from: Link

• #38

  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. […] Importantly, these disease-defining concepts span the AS phenotypic categories of consistent, frequent, and associated features, so are not experienced by all individuals with AS.

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

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

  The true prevalence is unknown. Studies have suggested prevalence rates in the 1:20,000 to 1:50,000 range. […] Initial diagnosis is based on clinical features and confirmatory molecular genetic testing or UBE3A sequence analysis. Approximately 10% of children who clinically appear to have Angelman syndrome have negative genetic testing and previously were given a clinical diagnosis. […] A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome. […] 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.

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