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Notice 15

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Chromosome carrying the gene for Angelman's Syndrome.

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Chromosome carrying the gene for Angelman's Syndrome.

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Any support, organizations, or foundations?

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Any support, organizations, or foundations?

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Angelman Syndrome Foundation says in the name what it is, this foundation is a non profit organization that is on a mission to bring awareness to the syndrome by gaining support to anyone who is affected by the syndrome or who wants to help because they are concerned about the problem.

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National Organization for Rare Disorders

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About Angelman Syndrome Foundation

The Angelman Syndrome Foundation, Inc., (ASF) is a non-profit organization whose mission is to advance the awareness and treatment of Angelman syndrome through education and information, research, and support for individuals with Angelman syndrome, their families, and other concerned parties. Angelman syndrome is a rare genetic disorder characterized by mental and motor retardation, absence of speech, muscular abnormalities, unprovoked laughter, and characteristic facial abnormalities. Established in 1992, the Angelman Syndrome Foundation offers national, regional, and local support systems for affected individuals and their families. It also promotes and supports research on the diagnosis, treatment, management, and prevention of Angelman syndrome.

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Angelman Syndrome Foundation - National Organization for Rare Disorders

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The Angelman Syndrome Foundation, Inc., (ASF) is a non-profit organization whose mission is to advance the awareness and treatment of Angelman syndrome through education and information, research, and support for individuals with Angelman syndrome, their families, and other concerned parties.

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Research being done on Angelman's syndrome.

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Research being done on Angelman's syndrome.

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One study being done on Angelman's syndrome is being done by Dr. Lawrence T. Reiter. The study is determining if neurons can be grown from the dental pulp of individuals with various neurogenetic syndromes including chromosomal duplications and deletions of human chromosome 15q. This study is being done in the University of Tennessee Health Science Center in Memphis, TN.

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Extraction of Neuronal Stem Cells from Dental Pulp for Human Neurogenetic Disease Studies

Dr. Lawrence T. Reiter at the University of Tennessee Health Science Center in Memphis, TN is conducting a research study to determine if neurons can be grown from the dental pulp of individuals with various neurogenetic syndromes including chromosomal duplications and deletions of human chromosome 15q.

Participants will be required to submit a genetics report describing their duplication/deletion, Angelman syndrome or control status with regards to 15q. Dr. Reiter will provide a tube of cell growth solution and a return package to you at no cost. Should you agree to participate you will only need to provide a fresh tooth specimen, either extracted or one that fell out on its own. Teeth must arrive at Dr. Reiter's laboratory no more than 48hrs after the time they came out of the mouth and in the special media provided.

For more information on how to participate, please contact Dr. Reiter directly via telephone: (901) 448-2635 or by e-mail: lreiter@uthsc.edu.
The Angelman Syndrome Foundation does not endorse any clinical trial or study, but provides information to the AS community for its own consideration.

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Extraction of Neuronal Stem Cells from Dental Pulp for Human Neurogenetic Disease Studies

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Dr. Lawrence T. Reiter at the University of Tennessee Health Science Center in Memphis, TN is conducting a research study to determine if neurons can be grown from the dental pulp of individuals with various neurogenetic syndromes including chromosomal duplications and deletions of human chromosome 15q.

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Angelman's syndrome, where did the name come from?

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Angelman's syndrome, where did the name come from?

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The name Angelman came from a doctor in 1965 named Harry Angelman. Harry was the first doctor to start investigating Angelman's syndrome which at the time wasn't even known about but in the name of the doctor who discovered it they named it Angelman's syndrome.

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Angelman syndrome - Better Health Channel

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The majority of Angelman's Syndrome cases are not inherited but instead are caused by the deletion in the maternal chromosome 15 or it can be caused by paternal uni-parental disomy.

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Description

Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epilepsy) and a small head size ( microcephaly). Delayed development becomes noticeable by the age of 6 to 12 months, and other common signs and symptoms usually appear in early childhood.

Children with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Hyperactivity and a short attention span are common. Most affected children also have difficulty sleeping and need less sleep than usual.

With age, people with Angelman syndrome become less excitable, and the sleeping problems tend to improve. However, affected individuals continue to have intellectual disability, severe speech impairment, and seizures throughout their lives. Adults with Angelman syndrome have distinctive facial features that may be described as " coarse." Other common features include unusually fair skin with light-colored hair and an abnormal side-to-side curvature of the spine ( scoliosis). The life expectancy of people with this condition appears to be nearly normal.

Frequency

Angelman syndrome affects an estimated 1 in 12,000 to 20,000 people.

Causes

Many of the characteristic features of Angelman syndrome result from the loss of function of a gene called . People normally inherit one copy of the UBE3A gene from each parent. Both copies of this gene are turned on (active) in most of the body's tissues. However, in nerve cells (neurons) in the brain and spinal cord (central nervous system), only the copy inherited from a person's mother (the maternal copy) is active. This parent-specific gene activation is caused by a phenomenon called genomic imprinting. If the maternal copy of the UBE3A gene is lost because of a chromosomal change or a gene variant (also known as a mutation), a person will have no active copies of the gene in most parts of the brain.

Several different genetic mechanisms can inactivate or delete the maternal copy of the UBE3A gene. Most cases of Angelman syndrome (about 70 percent) occur when a segment of the maternal chromosome 15 containing this gene is deleted. In other cases (about 10 to 20 percent), Angelman syndrome is caused by a variant in the maternal copy of the UBE3A gene.

In a small percentage of cases, Angelman syndrome results when a person inherits two copies of chromosome 15 from his or her father (paternal copies) instead of one copy from each parent. This phenomenon is called paternal uniparental disomy. Rarely, Angelman syndrome can also be caused by a chromosomal rearrangement called a translocation, or by a variant or other defect in the region of DNA that controls activation of the UBE3A gene. These genetic changes can abnormally turn off (inactivate) UBE3A or other genes on the maternal copy of chromosome 15.

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.

In some people who have Angelman syndrome, the loss of a gene called is associated with light-colored hair and fair skin. The OCA2 gene is located on the segment of chromosome 15 that is often deleted in people with this disorder. However, loss of the OCA2 gene does not cause the other signs and symptoms of Angelman syndrome. The protein produced from this gene helps determine the coloring (pigmentation) of the skin, hair, and eyes.

Inheritance

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.

Rarely, a genetic change responsible for Angelman syndrome can be inherited. For example, it is possible for a variant in the gene or in the nearby region of DNA that controls gene activation to be passed from one generation to the next.

Other Names for This Condition

Additional Information & Resources

Patient Support and Advocacy Resources

Catalog of Genes and Diseases from OMIM

References

Buiting K. Prader-Willi syndrome and Angelman syndrome. Am J Med Genet C Semin Med Genet. 2010 Aug 15;154C(3):365-76. doi: 10.1002/ajmg.c.30273. Citation on PubMed

Dagli AI, Mathews J, Williams CA. Angelman Syndrome. 1998 Sep 15 [updated 2021 Apr 22]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from http://www.ncbi.nlm.nih.gov/books/NBK1144/ Citation on PubMed

Gentile JK, Tan WH, Horowitz LT, Bacino CA, Skinner SA, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Lee HS, Sahoo T, Waisbren SE, Bird LM, Peters SU. A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations. J Dev Behav Pediatr. 2010 Sep;31(7):592-601. doi: 10.1097/DBP.0b013e3181ee408e. Erratum In: J Dev Behav Pediatr. 2011 Apr;32(3):267. Citation on PubMed or Free article on PubMed Central

Lalande M, Calciano MA. Molecular epigenetics of Angelman syndrome. Cell Mol Life Sci. 2007 Apr;64(7-8):947-60. doi: 10.1007/s00018-007-6460-0. Citation on PubMed

Lossie AC, Whitney MM, Amidon D, Dong HJ, Chen P, Theriaque D, Hutson A, Nicholls RD, Zori RT, Williams CA, Driscoll DJ. Distinct phenotypes distinguish the molecular classes of Angelman syndrome. J Med Genet. 2001 Dec;38(12):834-45. doi: 10.1136/jmg.38.12.834. Citation on PubMed or Free article on PubMed Central

Pelc K, Cheron G, Dan B. Behavior and neuropsychiatric manifestations in Angelman syndrome. Neuropsychiatr Dis Treat. 2008 Jun;4(3):577-84. doi: 10.2147/ndt.s2749. Citation on PubMed or Free article on PubMed Central

Tan WH, Bacino CA, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Gentile JK, Glaze DG, Horowitz LT, Kothare SV, Lee HS, Nespeca MP, Peters SU, Sahoo T, Sarco D, Waisbren SE, Bird LM. Angelman syndrome: Mutations influence features in early childhood. Am J Med Genet A. 2011 Jan;155A(1):81-90. doi: 10.1002/ajmg.a.33775. Citation on PubMed or Free article on PubMed Central

Van Buggenhout G, Fryns JP. Angelman syndrome (AS, MIM 105830). Eur J Hum Genet. 2009 Nov;17(11):1367-73. doi: 10.1038/ejhg.2009.67. Epub 2009 May 20. Citation on PubMed or Free article on PubMed Central

Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, Magenis RE, Moncla A, Schinzel AA, Summers JA, Wagstaff J. Angelman syndrome 2005: updated consensus for diagnostic criteria. Am J Med Genet A. 2006 Mar 1;140(5):413-8. doi: 10.1002/ajmg.a.31074. Citation on PubMed

Williams CA. Neurological aspects of the Angelman syndrome. Brain Dev. 2005 Mar;27(2):88-94. doi: 10.1016/j.braindev.2003.09.014. Citation on PubMed

Williams CA. The behavioral phenotype of the Angelman syndrome. Am J Med Genet C Semin Med Genet. 2010 Nov 15;154C(4):432-7. doi: 10.1002/ajmg.c.30278. Citation on PubMed

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To use the sharing features on this page, please enable JavaScript. Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia).

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Currently, there is no specific treatment for Angelman's Syndrome but in an attempt to treat this syndrome, they try to reduce anxiety, seizures, gastrointestinal issues, and improve sleep.

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Angelman syndrome (AS) is a genetic disorder that causes neurological and psychological problems including seizures, difficult behaviors, movement disorders, and sleep problems. Gastrointestinal, orthopedic, and eye problems also are often present. Infants with AS appear normal at birth but often have feeding problems in the first months of life and exhibit noticeable developmental delays by 6-12 months. Seizures often begin between 2-3 years of age and occur in 80-85 percent of those with AS. Features that help define the syndrome include very happy demeanor with frequent laughter, poor balance, tremor, and minimal to no speech. The disorder results from the absence of the UBE3A gene inherited from the mother. The gene provides instructions for a protein that plays a critical role in the normal development and function of the nervous system.

There are four types of Angelman syndrome involving problems with chromosomes or mutations in the UBE3A gene. Other children may have a genetic syndrome that looks like AS but is caused by a different gene. Dr. Harry Angelman first reported the syndrome in 1965, when he described three children in his practice with similar symptoms.

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Angelman Syndrome | National Institute of Neurological Disorders and Stroke

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Angelman syndrome (AS) is a genetic disorder that causes neurological and psychological problems including seizures, difficult behaviors, movement disorders, and sleep problems. Gastrointestinal, orthopedic, and eye problems also are often present. Infants with AS appear normal at birth but often…

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How Many People Are Affected By Angelman's Syndrome

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How Many People Are Affected By Angelman's Syndrome

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In the general population, 1 in 12,000-20,000 people have Angelman's Syndrome & its effects on both genders are equal so it doesn't heavily occur in either of the two.

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NORD (National Organization for Rare Disorders)

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Angelman syndrome is associated with a broad spectrum of possible symptoms. The specific symptoms of Angelman syndrome vary from person to person. Individuals with Angelman syndrome will not have all of the symptoms discussed below. For example, some individuals with Angelman syndrome may have seizures, others may not. Most may be unable to speak while in a few there is some limited speech.

Children with Angelman syndrome experience delays in reaching developmental milestones (developmental delays) and have severe learning disabilities. Children with Angelman syndrome also have significant communication difficulties. Most children do not develop the ability to speak more than a few words. Children usually can understand simple commands. Older children and adults may be able to communicate through gesturing and or using communication boards.

An early finding in most children with Angelman syndrome is a movement or balance abnormality that includes jerky movements due to an inability to coordinate voluntary movements (ataxia). Children with Angelman syndrome may hold their arms up with the wrists and elbows bent and may flap their hands repeatedly when walking or excited. Diminished muscle tone (hypotonia) of the trunk, increased muscle tone (hypertonia) of the arms and legs, and abnormally exaggerated or brisk reflex responses (hyperreflexia) may also occur. Some children with Angelman syndrome experience subtle tremors of the arms and legs. These movement disorders may be apparent early during infancy (approximately 6-12 months of age). Motor milestones (e.g., walking) are usually delayed. In mild cases, children may begin to walk at 2-3 years of age. In more severe cases, walking may be noticeably slow, stiff and jerky. Some children may not be able to walk until they are 5-10 years of age. In approximately 10 percent of cases, children with Angelman syndrome do not walk unaided.

Infants and children with Angelman syndrome have a distinct behavioral pattern marked by a happy demeanor with frequent and often inappropriate episodes of unprovoked, prolonged laughter and smiling. Children with Angelman syndrome may be easily excited, hypermotoric and hyperactive. They are active explorers and often may appear to be constantly in motion.

Individuals with Angelman syndrome may have microcephaly in which the circumference of the head is smaller than would normally be expected for a child's age and weight. In many cases, epileptic seizures may also occur. Seizures usually begin between one and five years of age and often improve by adolescence.

Some findings associated with Angelman syndrome occur less often than the above-mentioned symptoms. In some cases, individuals with Angelman syndrome may have distinctive facial features including a prominent chin, deep-set eyes, an abnormally wide mouth (marcostomia) with a protruding tongue, widely-spaced teeth and an abnormally flat back of the head (brachycephaly).

Feeding problems may occur during infancy often as a result of poor sucking ability. Infants with Angelman syndrome may also have swallowing difficulties. Feeding problems associated with Angelman syndrome are usually not severe. Children or adults with Angelman syndrome may experience constipation or gastroesophageal reflux disorder (GERD), a condition characterized by backflow (reflux) of the contents of stomach or small intestines into the tube that connects the mouth to the stomach (esophagus).

Additional findings include excessive drooling, crossed eyes (strabismus), lack of normal color of the (hypopigmentation) of the skin, eyes and hair due to lack of certain melanin pigments. This lack of pigment in the eye may cause sensitivity to light (photophobia), rapid, involuntary eye movements (nystagmus) and decreased clarity of vision (visual acuity). Sleep disturbances such as a decreased need for sleep and disrupted or abnormal sleep/wake cycles (e.g., awaking at night or rising earlier than normal) are frequent findings in children with Angelman syndrome. Children with Angelman syndrome may also have a fascination with water, love music, and be attracted to shiny objects. Some children may have an increased sensitivity to heat. As children with Angelman syndrome age, progressive side-to-side curvature of the spine (scoliosis) may become apparent. Puberty is usually unaffected in children with Angelman syndrome and fertility is possible.

Adults with Angelman syndrome may have more pronounced facial features such as a more prominent lower jaw (mandibular prognathism). Some individuals may develop abnormal protrusion of the cornea (keratoconus). Mobility may decrease as some individuals grow older and stiffening of the joints (contractures) may also develop. Some older children and adults may be prone to obesity.

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Angelman Syndrome - NORD (National Organization for Rare Disorders)

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Angelman syndrome is associated with a broad spectrum of possible symptoms. The specific symptoms of Angelman syndrome vary from person to person. Individuals with Angelman syndrome will not have all of the symptoms discussed below. For example, some individuals with Angelman syndrome may have seizures, others may not.

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A few of the symptoms that occur in Angelman's Sydrome are frequent smiling and laughter, being hyperactive, easily excited which is often shown through flapping the hands, short attention span, an odd obsession/fascination with water, and having trouble sleeping which also results in needing less sleep than the average child.

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Angelman syndrome is a rare genetic condition that affects the nervous system and causes severe physical and learning disabilities.
A person with Angelman syndrome will have a near-normal life expectancy, but they will need support throughout their life.

Characteristics of Angelman syndrome

A child with Angelman syndrome will begin to show signs of delayed development at around 6 to 12 months of age, such as being unable to sit unsupported or make babbling noises.

Later, they may not speak at all or may only be able to say a few words. However, most children with Angelman syndrome will be able to communicate using gestures, signs or other systems.

The movement of a child with Angelman syndrome will also be affected. They may have difficulty walking because of issues with balance and co-ordination ( ataxia). Their arms may tremble or make jerky movements, and their legs may be stiff.

Several distinctive behaviours are associated with Angelman syndrome, although a child with the condition may not have all of these behaviours. They include:

frequent laughter and smiling, often with little stimulus

being easily excitable, often flapping the hands

being restless (hyperactive)

having a short attention span

trouble sleeping and needing less sleep than other children

a particular fascination with water

By around 2 years of age, a small head which may also be flat at the back (microbrachycephaly) may be noticeable in some children with Angelman syndrome. Children with Angelman syndrome may also start to have seizures or fits around this age.

Other possible features of the syndrome include:

tendency to stick the tongue out

crossed eyes (strabismus)

skin, hair and eyes that are paler than other family members

a wide mouth with widely spaced teeth

a side-to-side curvature of the spine (scoliosis)

walking with arms in the air

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.

Causes of Angelman syndrome

In most cases of Angelman syndrome, the child's parents do not have the condition and the genetic difference responsible for the syndrome happens by chance around the time of conception.

Angelman syndrome usually happens when the gene known as UBE3A is either missing or not working properly. A gene is a single unit of genetic material (DNA) that acts as an instruction for the way an individual is made and develops.

Usually a child gets 2 copies of this gene, one from each parent, but only the gene from the mother is active.

Most cases of Angelman syndrome are caused by the child not getting a copy of the UBE3A gene from its mother, or the gene not working. This means there's no active copy of the gene in the child's brain.

In a small number of cases, Angelman syndrome happens when a child gets 2 inactive copies of the gene from their father, rather than 1 from each parent.

Sometimes the cause of Angelman syndrome is unknown. Most children in these unexplained cases have different conditions involving other genes or chromosomes.

Diagnosing Angelman syndrome

Angelman syndrome may be suspected if a child's development is delayed and they have the syndrome's distinctive characteristics.

A blood test is used to confirm the diagnosis. Several genetic tests will be done on the blood sample. These tests look for:

any chromosomes or pieces of chromosomes that are missing

changes in the mother's or father's UBE3A gene that they may have passed on

changes in the child's UBE3A gene that would stop it from working

For each child with Angelman syndrome, it's important to know the genetic change that caused the condition. This helps to determine your chance of having another child with Angelman syndrome.

Most children with Angelman syndrome are diagnosed between the ages of 9 months to 6 years, when physical and behavioural symptoms become apparent.

If your child is diagnosed with Angelman syndrome, you will be able to talk to a genetic doctor about what support they might need.

Managing Angelman syndrome

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

In later childhood, the seizures usually improve, although they may return in adulthood. With age, people with Angelman syndrome become less hyperactive and may sleep better.

Most people with the syndrome will have learning disability and limited speech throughout their life. In adults, some mobility may be lost and joints may stiffen.

People with Angelman syndrome usually have good general health and are often able to improve their communication and acquire new skills.

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.

Find out more about:

Help and support

AngelmanUK is a charity providing information and support for parents and carers of people with Angelman syndrome.

You can call their helpline (0300 999 0102) to speak with parents of people with Angelman syndrome, who can offer you advice and support.

The Foundation for Angelman Syndrome Therapeutics (FAST) is a charity that provides information about Angelman syndrome.

The website includes a section for parents who have a child who has recently been diagnosed with Angelman syndrome.

National Congenital Anomaly and Rare Disease Registration Service

If your child has Angelman syndrome, your clinical team will pass information about them on to the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS).

The NCARDRS helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time.

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Read about Angelman syndrome, a genetic disorder that affects the nervous system and causes severe physical and intellectual disability