All About: Angelman Syndrome

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All AboutAngelman Syndrome

• Molly Segal

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Angelman Syndrome

• Otherwise known as AS.

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Mode of Inheritance

• Angelman syndrome is a chromosomal condition.
• It is related to chromosome 15.
• It affects about 1 out of every 12,000 to 20,000
  people.

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Pedigree
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Symptoms of the Disorder and Detection

• Developmental delay, or mental retardation.
• Severe speech impediment.
• Seizures
• Small head size (microcephaly)
• Problems with movement and balance (ataxia)
• Short attention span
• Often very happy, a lot of smiling and laughing.
• Usually have fair skin with light colored hair
• Hand flapping/clapping of the hands is common.

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Detection

• Signs are often detected in early childhood,
  while the developmental delay can be detected as
  early as 6 to 12 months.

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Diagnostic Testing

• Besides the symptoms, the tests that can be done
  to diagnose the disorder include
• Molecular genetic testing
• Cytogenetic analysis
• DNA methylation analysis

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Prognosis

• The survival rate for AS has appeared to be a
  fairly normal life-span.

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Additional Health Problems/Treatment

• Anticonvulsant medications can be prescribed for
  the seizures that occur.
• Behavioral therapy and modification is often
  helpful. Also, educational training and
  enrichment programs should be available.
• Thoraco-lumbar jackets or surgical rod
  stabilization can help with severe scoliosis and
  curvature.
• orthotic bracing or surgery is often used to
  correct subluxed or pronated ankles or tight
  Achilles tendons

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Current Research

• There are studies that have been taking place
  over the past 5-10 years in which they are trying
  to establish genotype-phenotype correlations
  which will hopefully assist in future clinical
  care for AS patients.

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Genetic Counseling

• What would a genetic counselor tell parents who
  had the disorder or were carriers of the disorder
  about the chances their children would have the
  disorder?
• The parents of a proband are unaffected.
• Genetic testing for parents depends on the cause
  of AS in the proband.
• The mother of a child with deletions should get
  chromosomal analysis to determine if she has a
  balanced subtle chromosomal rearrangement.

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Credits

• http//www.genetests.org/query?dzangelman
• http//www.noah-health.org/en/genetic/
• http//ghr.nlm.nih.gov/conditionangelmansyndrome
• http//www.geneclinics.org/profiles/angelman/