Diagnóstico

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, small head size, flatness in the back of the head, and frequent laughter.

Confirming a diagnosis of Angelman syndrome requires taking a blood sample from your child for genetic studies.

A combination of genetic tests can reveal the chromosome defects related to Angelman syndrome. These tests may review:

  • Parental DNA pattern. This test, known as a DNA methylation test, screens for three of the four known genetic abnormalities that cause Angelman syndrome.
  • Missing chromosomes. Either a fluorescence in situ hybridization (FISH) test or a comparative genomic hybridization test (CGH) can show if portions of chromosomes are missing.
  • Gene mutation. Rarely, Angelman syndrome may occur when a person's maternal copy of the UBE3A gene is active, but mutated. If results from a DNA methylation test are normal, your child's doctor may order a UBE3A gene sequencing test to look for a maternal mutation.

Tratamiento

There's no cure for Angelman syndrome. Research is focusing on targeting specific genes for treatment. Current treatment focuses on managing the medical and developmental issues.

A team of health care professionals will likely work with you to manage your child's condition. Depending on your child's signs and symptoms, treatment for Angelman syndrome may involve:

  • Anti-seizure medication to control seizures
  • Physical therapy to help with walking and movement problems
  • Communication therapy, which may include sign language and picture communication
  • Behavior therapy to help overcome hyperactivity and a short attention span and to aid in development

Estudios clínicos

Explora los estudios de Mayo Clinic de evaluación de tratamientos, intervenciones y análisis nuevos como medio para prevenir, detectar, tratar o controlar esta enfermedad.

Estrategias de afrontamiento y apoyo

Enterarte de que tu hijo tiene síndrome de Angelman puede resultar abrumador. Es posible que no sepas qué esperar. Tal vez te preocupes por tu capacidad para atender los problemas médicos y las discapacidades del desarrollo de tu hijo. Existen recursos que pueden ayudar.

Trabaja con un equipo

Encuentra un equipo de médicos y terapeutas en quienes confíes para que te ayuden con las decisiones importantes sobre el cuidado y tratamiento de tu hijo. Estos profesionales también pueden ayudarte a encontrar recursos locales.

Considera unirte a un grupo de apoyo

Conectarte con otras familias que estén afrontando desafíos similares puede hacerte sentir más acompañado. Pídele información al médico de tu hijo sobre grupos de apoyo locales y otras organizaciones útiles.

Preparación para la consulta

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).

Here's some information to help you get ready for your appointment.

What you can do

  • Write down signs or symptoms you've noticed in your child, and for how long.
  • Bring baby books and other records of your child's development to the appointment. Photographs and video recordings can be helpful.
  • List your child's key medical information, including other conditions for which your child is being treated, and the names of medications, vitamins or supplements that he or she takes.
  • Ask a family member or friend to join you for your child's appointment. If your child's doctor mentions the possibility of a developmental disorder, you may have great difficulty focusing on anything the doctor says next. Take someone along who can offer emotional support and can help you remember the information.
  • Write down questions to ask your doctor.

Questions to ask your child's doctor include:

  • What is likely causing my child's signs and symptoms?
  • Are there other possible causes for these signs and symptoms?
  • What tests does my child need?
  • Should my child see a specialist?

Questions to ask a specialist include:

  • Does my child have Angelman syndrome?
  • What are the possible complications of this condition?
  • What therapies are available?
  • What treatment do you recommend?
  • What is the long-term outlook for my child?
  • Should my child or I be tested for the genetic mutations associated with this condition?
  • What other specialists should my child see?
  • How can I find other families who are coping with Angelman syndrome?

Don't hesitate to ask other questions, as well.

What to expect from your doctor

A doctor who sees your child for possible Angelman syndrome is likely to ask you a number of questions, such as:

  • What are your child's signs and symptoms and when did you notice them?
  • Does your child have feeding problems?
  • Is your child reaching the expected, age-related physical milestones?
  • Have you noticed problems with balance, coordination or movement?
  • Does your child laugh, smile or express excitement more often than his or her peers?
  • Does your child express excitement with unusual physical behaviors, such as hand flapping?
  • Does your child communicate verbally?
  • How well does your child sleep?
  • Has your child had seizures? If so, how often?
  • Have any of your child's first-degree relatives — such as a parent or sibling — been diagnosed with Angelman syndrome?
Feb. 07, 2017
References
  1. NINDS Angelman syndrome information page (Página de información acerca del síndrome de Angelman del NINDS). Instituto Nacional de Trastornos Neurológicos y Accidentes Cerebrovasculares (National Institute of Neurological Disorders and Stroke). http://www.ninds.nih.gov/disorders/angelman/angelman.htm. Último acceso: 7 de noviembre de 2016.
  2. Biblioteca Nacional de Medicina (National Library of Medicine). Angelman syndrome (Síndrome de Angelman). Genetics Home Reference (Referencia de Genética para el Hogar). http://ghr.nlm.nih.gov/condition/angelman-syndrome. Último acceso: 7 de noviembre de 2016.
  3. Angelman syndrome diagnostic criteria (Criterio de diagnóstico para el síndrome de Angelman). Angelman Syndrome Foundation (Fundación para el Síndrome de Angelman). http://www.angelman.org/understanding-as/medical-info/diagnostic-criteria/. Último acceso: 7 de noviembre de 2016.
  4. Pagon RA, et al., eds. Angelman syndrome (Síndrome de Angelman). En: GeneReviews. Seattle, Wash.: Universidad de Seattle, Washington; 1993-2016. http://www.ncbi.nlm.nih.gov/books/NBK1116. Último acceso: 7 de noviembre de 2016.
  5. Bailus BJ, et al. The prospect of molecular therapy for Angelman syndrome and other monogenic neurologic disorders (Prospecto de la terapia molecular contra el síndrome de Angelman y otros trastornos monogénicos neurológicos). BMC Neuroscience (Neurociencia BMC). 2014;15:76.
  6. Angelman syndrome diagnostic testing (Análisis de diagnóstico para el síndrome de Angelman). Angelman Syndrome Foundation (Fundación para el Síndrome de Angelman). https://www.angelman.org/what-is-as/medical-information/diagnostic-testing/. Último acceso: 13 de noviembre de 2016.
  7. Buiting K, et al. Angelman syndrome — Insights into a rare neurogenetic disorder (Síndrome de Angelman: perspectivas sobre un trastorno neurogénico poco frecuente). Nature (Naturaleza). 2016;12:584.
  8. Patterson MC (opinión de un experto). Mayo Clinic, Rochester, Minn. 22 de noviembre de 2016.