You may worry about your ability to care for your child's medical concerns and developmental disabilities. There are resources that can help. Find a team of doctors and therapists you trust to help you with important decisions about your child's care and treatment. These professionals can also help you find local resources. Connecting with other families facing similar challenges may help you feel less alone. Ask your child's doctor for information about local support groups and other helpful organizations.
Call your doctor if your baby or child isn't reaching expected developmental milestones or has other signs or symptoms common to Angelman syndrome. Your doctor may then refer you to a doctor who specializes in conditions that affect the brain and nervous system neurologist.
A doctor who sees your child for possible Angelman syndrome is likely to ask you a number of questions, such as:. Angelman syndrome care at Mayo Clinic.
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This content does not have an Arabic version. Diagnosis Your child's doctor may suspect Angelman syndrome if your child has developmental delays and other signs and symptoms of the disorder, such as problems with movement and balance, a small head size, flatness in the back of the head, and frequent laughter.
Tests A definitive diagnosis can almost always be made through a blood test. Request an Appointment at Mayo Clinic. Share on: Facebook Twitter. Show references Angelman syndrome information page. If deletions or other abnormalities are not detected by the previously described techniques, DNA polymorphism testing via PCR, MLPA, or gene-targeted microarray of the patient and both parents can be used to distinguish between uniparental disomy and imprinting defects. DNA sequencing of the patient and both parents may also be useful to distinguish between imprinting center deletions and epimutations that lead to imprinting defects.
Sources: Dagli, ; Driscoll, Insulinlike growth factor 1 IGF-1 and growth hormone status testing is recommended to monitor the success of growth hormone treatment. Testing for hypothyroidism, including thyroid-stimulating hormone TSH and free thyroxine T4 tests, and testing for diabetes are recommended to monitor for comorbidities. Use to identify cases resulting from molecular mechanisms that produce abnormal methylation patterns. Use to rule out an MECP2 gene mutation in individuals with clinical features of AS who lack a molecular abnormality involving 15q Angelman syndrome.
GeneReviews, University of Washington; Angelman syndrome updated consensus for diagnostic criteria. Am J Med Genet A. Am J Hum Genet. Prader-Willi syndrome. Eur J Hum Genet. Recommendations for the diagnosis and management of Prader-Willi syndrome. J Clin Endocrinol Metab. Distinct phenotypes distinguish the molecular classes of Angelman syndrome. J Med Genet. Subscribe for Updates. Editorial Policy. Learn more. Cite this page.
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The test determines whether the patient has a maternal copy of chromosome 15 and of the maternal UBE3A gene. If not, the patient will be diagnosed with Angelman syndrome. In addition, the PCR test can detect if a patient inherits an Angelman syndrome-causing mutation in the UBE3A gene from their mother, even if the mother has no symptoms of the disease. In very rare cases, Angelman syndrome can be caused by UBE3A gene mutations that do not inactivate the gene but affect the function of the protein that is made from the gene.
Angelman Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.
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