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Topic: Angelman syndrome


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  Angelman syndrome - Genetics Home Reference
Angelman syndrome is a chromosomal condition related to chromosome 15.
Mutations in the UBE3A gene cause Angelman syndrome.
The causes of Angelman syndrome are unknown in 10 to 15 percent of cases.
ghr.nlm.nih.gov /condition=angelmansyndrome   (911 words)

  
 Angelman Syndrome
Angelman syndrome (AS) is characterized by severe developmental delay or mental retardation, severe speech impairment, gait ataxia and/or tremulousness of the limbs, and a unique behavior with an inappropriate happy demeanor that includes frequent laughing, smiling, and excitability.
The prevalence of Angelman syndrome is one in 12,000-20,000 population [
ANGELMAN SYNDROME; AS Genomic Databases for Angelman Syndrome
www.geneclinics.org /profiles/angelman/details.html   (4939 words)

  
  Angelman syndrome
Angelman syndrome is a genetic disorder in which a gene on chromosome 15 is missing or unexpressed.
Children with Angelman syndrome are generally late to develop and speak very little but have good linguistic comprehension.
The gene of Angelman syndrome (part of the ubiquitin pathway) is expressed only on the maternal chromosome.
www.ebroadcast.com.au /lookup/encyclopedia/an/Angelman_syndrome.html   (144 words)

  
 ARPWSC - Learn More - Information for Patients, Family and Friends
Angelman syndrome (AS) is a neurological disorder characterized by severe congenital mental retardation, unusual facial appearance, and muscular abnormalities.
Angelman Syndrome occurs in approximately 1/15,000 live births and affects males, females and all racial/ethnic groups equally.
Rett syndrome is a childhood neurodevelopmental disorder characterized by apparently normal early development followed by loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, gait abnormalities, seizures, and mental retardation.
rarediseasesnetwork.epi.usf.edu /arpwsc/learnmore/index.htm   (1094 words)

  
 angelmansyndrome.org
Angelman Syndrome (AS) is a rare neuro-genetic disorder named after an English pediatrician, Dr. Harry Angelman, who first described the syndrome in 1965.
A syndrome is number of features which occur together as a group and indicate a particular condition.
Angelman Syndrome is characterized by severe intellectual disability, speech impediment, sleep disturbance, unstable jerky gait, seizures and usually a happy demeanor.
www.angelmansyndrome.org   (80 words)

  
 Reference.com/Encyclopedia/Chromosome 15 (human)
Angelman syndrome results from a loss of gene activity in a specific part of chromosome 15, the 15q11-q13 region.
About 10% of Angelman syndrome cases are caused by a mutation in the UBE3A gene, and another 3% result from a defect in the DNA region that controls the activation of the UBE3A gene and other genes on the maternal copy of chromosome 15.
In a small percentage of cases, Angelman syndrome may be caused by a chromosomal rearrangement called a translocation or by a mutation in a gene other than UBE3A.
www.reference.com /browse/wiki/Chromosome_15   (1165 words)

  
 Angelman syndrome - Better Health Channel.
Angelman syndrome is a congenital (present at birth) genetic condition.
Angelman syndrome may be mistaken for autism because of similar symptoms including hyperactive behaviour, speech problems and hand flapping.
Angelman syndrome is a neurological disorder caused by a missing section of chromosome 15.
www.betterhealth.vic.gov.au /bhcv2/bhcarticles.nsf/pages/Angelman_syndrome?open   (626 words)

  
 Angelman's Syndrome: Encyclopedia of Children's Health
Angelman's syndrome is a relatively rare genetic disorder that causes a variety of neurological problems, including developmental delay, seizures, speech impairment, and problems with movement and balance.
Angelman's syndrome was first described in 1965 by Harold Angelman, who noted that a group of children in his medical practice had flat heads, made jerky movements, held their tongues in a protruding way, and had curious bouts of laughter.
As of the early 2000s there were only about 1,000 to 5,000 known cases of the syndrome in the United States.
health.enotes.com /childrens-health-encyclopedia/angelmans-syndrome   (116 words)

  
 Children with Angelman Syndrome   (Site not responding. Last check: 2007-10-18)
Children with Angelman syndrome used to be called "happy puppets" because they tend to laugh with ease, flap their arms like marionettes and never talk.
The syndrome was not recognized until 1965, when English physician Harry Angelman described peculiar behavioral abnormalities in three patients and hypothesized they were linked to a single but as-yet unnamed disease.
In a significant subset of Angelman cases, a key neurotransmitter system in the brain known as GABA is abnormal, said Dr. Edward Novotny, a pediatric neurologist at Yale University School of Medicine.
www.uchc.edu /ocomm/features/stories/stories04/feature_angelman.html   (1073 words)

  
 BBC - Health - Conditions - Angelman syndrome
Angelman syndrome is a rare condition characterised by severe learning difficulties and unsteady or jerky movements.
Angelman syndrome is a chromosomal disorder caused by the absence of a gene.
Typical features of Angelman syndrome are a small head (microcephaly), epilepsy, severe learning difficulties (with poor communication skills and little or absent speech), an unsteady or ataxic gait, characteristic facial appearance and a happy disposition.
www.bbc.co.uk /health/conditions/angelman1.shtml   (495 words)

  
 neurodiversity.com | angelman syndrome
The 10 children with Angelman syndrome and comorbid autism were compared with eight children with only autism regarding their social and communicative skills.
Angelman syndrome (AS) is characterized by mental retardation, absence of speech, seizures and motor dysfunction.
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two distinct neurological disorders that map to human chromosome 15q11-q13 and involve perturbations of imprinted gene expression.
www.neurodiversity.com /angelman.html   (1414 words)

  
 Angelman Syndrome
Angelman Syndrome is a rare neurological disorder disorder that is predominantly caused by deletions on chromosome 15 given by the mother and is characterized by severe congenital mental retardation, unusual facial appearance, and muscular abnormalities.
Although Angelman Syndrome is usually not recognized at birth or in infancy since the developmental problems are nonspecific during this time.
Angelman Syndrome is caused by; deletion of the AS/PWS region on the copy of chromosome 15 inherited from the mother.
www.psychnet-uk.com /dsm_iv/angelman_syndrome.htm   (283 words)

  
 ANGELMAN SYNDROME
DESCRIPTION: Angelman syndrome is a neurological disorder characterized by severe congenital mental retardation, unusual facial appearance, and muscular abnormalities.
The purpose of this research is to continue genetic analysis of the disorder by isolating and characterizing the Angelman syndrome gene(s).
Angelman syndrome (AS) may result from either maternally inherited deletions of chromosome 15q11-13 or from paternal uniparental disomy for chromosome 15.
www.angelfire.com /md/danil/ANGELMAN.html   (834 words)

  
 ANGELMAN SYNDROME: Contact a Family - for families with disabled children: information on rare syndromes and disorders
Children with Angelman syndrome usually present with a delay in reaching their developmental milestones and often do not learn to sit until around one year of age.
Angelman syndrome may arise from a variety of genetic abnormalities, all of which involve the same part of chromosome 15.
Many children with Angelman syndrome are able to learn important self-care skills, including feeding and toileting, and as they grow older they may undertake other domestic tasks, such as dusting and setting the table with assistance.
www.cafamily.org.uk /Direct/a54.html   (1015 words)

  
 CIGNA - Angelman Syndrome
Angelman Syndrome is a rare disorder characterized by developmental delay; absence or near absence of speech; unprovoked, prolonged episodes (paroxysms) of inappropriate laughter; characteristic facial abnormalities; and episodes of uncontrolled electrical activity in the brain (seizures).
In addition, by early childhood, individuals with Angelman Syndrome have severe developmental delays; impaired control of voluntary movements (ataxia), resulting in a stiff manner of walking (ataxic gait) with jerky arm movements; and characteristic positioning of the arms with flexion of the elbows and wrists.
Angelman Syndrome can be distinguished from other forms of mental retardation because of the distinctive facial appearance, unusual smiling and laughter, unusual jerky "puppet-like" walk, and abnormal electrical brain wave patterns.
www.cigna.com /healthinfo/nord411.html   (1589 words)

  
 Angelman syndrome   (Site not responding. Last check: 2007-10-18)
My daughter Liselotte has Angelman syndrome, a neurological disorder that is so rare that often I have to explain what it is, even to medical professionals.
When I heard that this Angelman site was to be discontinued I asked and was given permission to copy the contents of the page to mine.
Now there are many web sites about Angelman Syndrome, and the time has come to share the work.
people.zeelandnet.nl /fhof/angelman.htm   (225 words)

  
 8459 - Angelman Syndrome (AS) - FISH Analysis
Angelman syndrome is characterized by severe mental retardation, seizures, absent speech, outbursts of laughter, and ataxic gait.
Patients with clinical features suggestive of Angelman syndrome may be tested for deletions of 15q11-q13 by FISH simultaneously with high-resolution chromosomal analysis (if not previously performed).
For patients who have had a normal karyotype in the past, the methylation assay (see Angelman Syndrome DNA Methylation Analysis) can be used to detect most cases of Angelman syndrome).
www.bcm.edu /geneticlabs/tests/cyto/angelman_fish.html   (390 words)

  
 Angelman Syndrome by Mike Connor
Information from the Angelman Syndrome Foundation of America indicates that the condition may not be recognisable in the early post natal or infancy period, but the most common age of diagnosis is between 3 and 7 years when the characteristic behaviours and features become evident.
Information from the Angelman Syndrome Support Education and Research Trust highlights some positive aspects, notably the sociable and happy nature of the individuals affected; the possibility that comprehension and understanding may be considerable, that some children may learn sign language and use augmentative communication systems; and that sleeping or proneness to seizures improve with age.
Children with Angelman Syndrome are all likely to require a place in a school which provides for severe learning difficulty.
www.mugsy.org /connor24.htm   (1372 words)

  
 Angelman's Syndrome Information on Healthline
A minority of cases of Angelman's syndrome are due to new mutations in this same area of genes.
Other characteristics of the syndrome include abnormally decreased muscle tone, fair skin and hair, protruding jaw, hyperactivity, episodes of uncontrollable laughter, difficulty sleeping, and severe problems with movement and balance.
The disorder is sometimes called "happy puppet syndrome," because many children with the disorder have jerky, flapping movements of the arms; a stiff, jerky style of walking (gait); a happy, excited demeanor; and regular episodes of uncontrollable laughter.
www.healthline.com /galecontent/angelmans-syndrome   (688 words)

  
 Angelman's syndrome - MayoClinic.com
Angelman's syndrome is a neurological disorder caused by abnormalities in a series of genes on chromosome 15 that regulate production of the protein ubiquitin.
Although Angelman's syndrome is typically inherited, it can also result from a spontaneous gene mutation in an individual with no family history of the disease.
Angelman's syndrome is typically diagnosed between the ages of 3 and 7 years.
www.mayoclinic.com /health/angelmans-syndrome/AN00690   (286 words)

  
 Angelman Syndrome Foundation: Home
Angelman Syndrome (AS) has confused the medical community and parents of Angelman children for hundreds of years.
Initially presumed to be rare, it is now believed thousands of Angelman Syndrome cases have gone undiagnosed or misdiagnosed as cerebral palsy, autism or other childhood disorders.
The Angelman Syndrome Foundation is a national organization of families, caregivers and professionals who care about those with Angelman Syndrome.
www.angelman.org /angel   (455 words)

  
 Angelman Syndrome Foundation: Facts About Angelman Syndrome
Angelman syndrome is usually not recognized at birth or in infancy since the developmental problems are nonspecific during this time.
Angelman syndrome individuals have relative strengths in visual skills and social interactions that are based on non-verbal events.
Clayton-Smith J, Angelman syndrome: Evolution of the phenotype in adolescents and adults.
www.angelman.org /angel/index.php?id=75   (6025 words)

  
 Angelman Syndrome: symptoms, treatment, complications, long-term outlook, risks, cause
Angelman syndrome is a chromosomal disease that causes neurological problems.
Angelman syndrome is caused by the deletion or inactivation of a particular series of genes that regulate a protein called (UBE3A) on chromosome 15q11-13.
Angelman syndrome is usually not recognized at birth or in infancy.
www.mamashealth.com /neu/angelman.asp   (225 words)

  
 Angelman Syndrome
Angelman syndrome (AS) is a neurological disorder first described in 1965 by an English physician named Dr. Harry Angelman.
Because it is difficult to detect the developmental problems associated with Angelman syndrome during infancy, children are usually diagnosed with the disorder between the ages of three and seven.
Some children with Angelman Syndrome will also have symptoms related to the mouth and jaw, including protruding tongue or tongue thrusting, sucking/swallowing disorders, feeding problems during infancy; a jaw that projects forward (prognathia), a wide mouth with wide-spaced teeth, frequent drooling, and excessive chewing/mouthing behaviors.
www.hmc.psu.edu /childrens/healthinfo/a/angelman.htm   (692 words)

  
 Angelman Syndrome   (Site not responding. Last check: 2007-10-18)
People with Angelman syndrome typically are very good at understanding what you have to say to them but extreme difficulty with verbal expression.
Angelman syndrome is a caused by a deletion of the long arm of chromosome 15 that is received from your mother.
The Angelman Syndrome Foundation (ASF) is a group for families with loved ones diagnosed with this syndrome as well as professionals.
users.zoominternet.net /~cnaron/angelman.html   (149 words)

  
 Symptoms of Angelman syndrome - WrongDiagnosis.com
Angelman syndrome (AS) is an uncommon neurogenetic disorder characterized by mental retardation, abnormal gait, speech impairment, seizures, and an inappropriate happy demeanor that includes frequent laughing, smiling, and excitability.
When considering symptoms of Angelman syndrome, it is also important to consider Angelman syndrome as a possible cause of other medical conditions.
This signs and symptoms information for Angelman syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of Angelman syndrome signs or Angelman syndrome symptoms.
www.wrongdiagnosis.com /a/angelman_syndrome/symptoms.htm   (1419 words)

  
 Special Child: Disorder Zone Archives - Angelman Syndrome
Angelman syndrome (AS) is a rare neuro-genetic disorder that is predominantly caused by deletions on chromosome 15 given by the mother (70-75% of cases).
Currently, it is estimated that the incidence of AS is somewhere between 1 in 15,000 to 1 in 30,000, and the greatest majority of cases are of Caucasian origin.
There is no cure for Angelman syndrome, however, the condition is not progressive and skills slowly continue to be acquired throughout the individual’s life.
www.specialchild.com /archives/dz-001.html   (2126 words)

  
 Angelman syndrome deficits rescued in mice
Children with Angelman syndrome are often seen laughing and smiling, but this cheerful demeanor masks serious neurological problems — mental retardation, movement problems and seizures.
Angelman syndrome, which affects approximately one in 15,000 children, is a debilitating neurological disorder characterized by mental retardation, severely limited speech, and movement and balance problems.
In 1997, researchers determined that Angelman syndrome was caused by a mutation in a single gene, called UBE3A.
www.eurekalert.org /pub_releases/2007-02/vumc-asd020807.php   (654 words)

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