Angelman Syndrome

Angelman SyndromeDescription, Causes and Risk Factors:Alternative Name: Prader-Willi syndrome.Abbreviation: AS.Angelman syndrome is a genetic disorder that causes developmental delay and neurological problems. Infants with Angelman syndrome appear normal at birth, but often have feeding problems in the first months of life and exhibit noticeable developmental delays by 6 to 12 months. Seizures often begin between 2 and 3 years of age. Speech impairment is pronounced, with little to no use of words. Individuals with this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause severe functional deficits.It is estimated that 1 in 20000 to 30000 liver births suffers from Angelman syndrome.Age of Onset: AS is typically diagnosed between the ages of three and seven. The lifespan of a person with AS does not appear to be shortened.Bias: There is no gender bias. Majority of the cases are Caucasian.Most cases are not inherited. Usually affected people have no history of the disorder in their family. Rarely a genetic change, such as a mutation in the UBE3A gene, can be inherited.
  • Genetic changes occur as random events during either the formation of gametes or early embryonic development.
  • A segment of the maternal chromosome 15 containing the UBE3A gene is deleted (70% of cases).
  • A 5-15% of causes caused by paternal uniparental disomy (child inherits both chromosomes 15 from the father).
  • A 2-7% of cases due to imprinting mutation.
  • Causes of the genetic changes are unknown.
Individuals with AS usually have near normal life spans and good health. While AS children usually deal with issues such as hyperactivity, attention deficits in school and poor eating and sleeping patterns, many of these issues lessen with age. Usually adults with AS are not capable of living independently but many learn to perform basic household tasks and live successfully in adult group homes.Symptoms:Symptoms may include:Physical Characteristics:Protruding tongue.
  • Wide mouth, wide spaced teeth.
  • Abnormal protrusion of the jawbone.
  • Hypopigmented tongue, light hair and eye color (as compared to family).
  • Scoliosis.
  • Obesity.
  • Strabismus (crossed-eyes)
Behavioral Characteristics:Excessive laughing and smiling.
  • Hand flapping movements.
  • Aggressive behavior.
  • Frequent drooling.
  • Excessive chewing and mouthing behavior.
  • Abnormal sleep wake cycles.
  • Speech impairment.
  • Short attention span.
  • Problems with movement and balance.
  • Developments delay.
Diagnosis:Differential diagnosis may include:Single gene disordersRett syndrome
  • Alpha-thalassemia, retardation syndrome, X-linked (ATR-X).
  • Methylenetetrahydrofolate reductase deficiency (MTHFR).
  • Gurrieri syndrome.
Symptom complexesCerebral palsy
  • Lennox-Gastaut syndrome
  • Static encephalopathy
  • Childhood autism
  • Pervasive developmental disorder, not otherwise specified (PDD-NOS)
  • Mitochondrial encephalopathy.
Clinical diagnosis is difficult in the first two to three years of life. . The diagnosis is based on observation as well as physical tests of the patient. The doctor checks the physical as well as mental developmental progress in the child. The facial appearance, behaviour and physical movements are observed. For a proper diagnosis, a number of tests are conducted, they may include:Abnormal Electroencephalography (EEG) Test - The electrical activity of the brain is recorded and checked for abnormalities.
  • Fluorescent In Situ hybridization (FISH) - The deletion of the chromosomal copy is detected through this procedure.
  • Cytogenetic Testing - This is done to check any visible rearrangement of the chromosomal structure.
  • DNA methylation Analysis - This is one of the most important and preliminary genetic tests conducted on an Angelman patient.
  • Uniparental Disomy (UPD) - DNA samples from the patient as well as the parents are collected and used for polymorphism testing.Angelman syndrome
Treatment:Angelman syndrome cannot be cured, but some symptoms can be treated. When there are concerns about learning, speech, or behavior in a child over 3 years of age, a referral for special education services should be made. Speech therapy is needed with a focus on teaching non-verbal ways of communication. A safe environment, especially at night, needs to be created to prevent injury. Other therapies or treatments may be needed for problems as they arise. Children with Angelman syndrome and their families bene?t from having a primary care physician who helps to coordinate their care with medical specialists and community-based services.Occupational therapy (OT) works with kids with AS to enhance development and optimize their ability to participate in the activities and occupations of persons their own age. In the school setting a major emphasis is often fine motor and oral motor control. The OT may address the need for support in the fine motor demands of school by selecting activities the child needs help with, such as writing, cutting, gluing, and drawing, and developing supportive activities to build their skills. These activities can help the child develop and improve fine motor control. Many people with AS have some cognitive impairments or mental retardation. The OT may be able to provide support with cognitive problems like hyperactivity and poor attention span.NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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