Overview
Angelman syndrome is a genetic disorder that causes delayed development, problems with speech and balance, intellectual disability, and, sometimes, seizures. It is characterized by developmental delays, frequent smiling and laughter, happy and excitable personalities, and difficulty walking, moving, or balancing well. The disorder is caused by problems with a gene located on chromosome 15 called the ubiquitin protein ligase E3A (UBE3A) gene. In most cases, only the maternal copy of the UBE3A gene is active in the brain, and Angelman syndrome occurs when part of the maternal copy is missing or damaged. Some cases are caused by the inheritance of two paternal copies of the gene. There is no cure for Angelman syndrome, and treatment focuses on managing medical, sleep, and developmental issues.
Understanding the disease
Symptoms
The symptoms of Angelman syndrome include developmental delays, intellectual disability, no or minimal speech, difficulty walking, moving, or balancing well, frequent smiling and laughter, happy and excitable personality, sucking or feeding difficulties, trouble going to sleep and staying asleep, seizures (usually starting between 2 and 3 years of age), stiff or jerky movements, small head size with flatness in the back, tongue thrusting, light hair, skin, and eyes, unusual behaviors such as hand flapping and arms uplifted while walking, and sleep problems.
Development
Angelman syndrome is a genetic disorder primarily caused by problems with the ubiquitin protein ligase E3A (UBE3A) gene on chromosome 15. The disorder affects the function of neurons in the brain, leading to a range of symptoms. The development of Angelman syndrome can be attributed to the following factors:
- Genetic causes: Most cases of Angelman syndrome occur when part of the maternal copy of the UBE3A gene is missing or damaged. In rare instances, Angelman syndrome can be caused when two paternal copies of the gene are inherited, instead of one from each parent.
- Maternal gene activation: Normally, only the maternal copy of the UBE3A gene is active in the brain. This means that when the maternal copy is missing or damaged, the disorder manifests in the affected individual.
- Lack of gene expression: The UBE3A gene plays a crucial role in regulating gene expression. When the gene is missing or defective, it results in a lack of expression of the protein it encodes (ubiquitin protein ligase E3A), which is necessary for proper brain function. The developmental delays and symptoms associated with Angelman syndrome begin to manifest during early childhood, typically between 6 and 12 months of age. Despite the disorder's incurable nature, treatment focuses on managing medical, sleep, and developmental issues. For more information, you may want to consult with a healthcare professional, such as a pediatrician or genetic counselor.
Assessment and Diagnosis
Triage
If your child shows signs or symptoms of Angelman syndrome, such as developmental delays, no speech or minimal speech, difficulty walking or balancing, frequent smiling and laughter, happy and excitable personality, sucking or feeding difficulty, and sleep problems, you should make an appointment with your child's doctor. These symptoms may indicate the presence of Angelman syndrome, and early diagnosis can help in managing the condition more effectively.
Diagnosis
A definitive diagnosis of Angelman syndrome can almost always be made through a blood test, which is a genetic testing that identifies abnormalities in a child's chromosomes that indicate the disorder. The tests may review parental DNA pattern, missing chromosomes, and gene mutation. The tests that may be used are DNA methylation test and chromosomal microarray (CMA). The DNA methylation test screens for three of the four known genetic abnormalities that cause Angelman syndrome, while the CMA can show if portions of chromosomes are missing. If the DNA methylation test results are normal, a UBE3A gene sequencing test may be ordered to look for a maternal mutation.
Management and Treatment
Complications
Potential complications of Angelman syndrome may include feeding difficulties and obesity in infants and children. Other complications may include sleep disorders, curvature of the spine (scoliosis), and hyperactivity. However, it's important to note that each individual with Angelman syndrome may experience a different range and severity of complications.
Treatment
Treatment for Angelman syndrome focuses on managing medical, sleep, and developmental issues. Since the disorder cannot be cured, the main goal of treatment is to address the symptoms and improve the quality of life for the affected individual. Here are some ways to manage the symptoms of Angelman syndrome:
- Physical therapy: Regular physical therapy sessions can help improve motor skills, coordination, and balance.
- Speech and language therapy: Specialized therapy can help enhance communication skills and promote speech development.
- Occupational therapy: Occupational therapy can help individuals with Angelman syndrome develop daily living skills and improve their overall independence.
- Seizure management: Anti-seizure medications may be prescribed to control seizures in individuals with Angelman syndrome.
- Behavioral interventions: Positive behavioral support and interventions may be employed to help manage challenging behaviors associated with the disorder.
- Sleep management: Addressing sleep disturbances through a consistent sleep schedule, relaxation techniques, and sleep-friendly environments can improve sleep quality.
- Nutritional support: In some cases, feeding difficulties may require dietary modifications or the use of feeding tubes. A healthcare professional can provide guidance on managing feeding issues.
- Medications: Depending on the specific symptoms, other medications may be prescribed to alleviate issues such as hyperactivity, anxiety, or depression. It's important to note that the treatments mentioned above may vary depending on the individual's specific needs and the severity of their symptoms. Consulting with a healthcare professional experienced in Angelman syndrome is crucial for developing a personalized treatment plan.
Preparing for medical consultation
To prepare for an appointment for Angelman syndrome, you should:
- Write down any signs or symptoms you've noticed in your child, including their duration.
- Note any previous heart treatments your child has received.
- Be aware of any pre-appointment restrictions or requirements, such as filling out forms or dietary restrictions for certain tests.
- Compile a list of questions to ask the doctor, including queries about the cause, tests, specialists, therapies, treatments, outlook, genetic testing, and other specialists to consult.
- Expect the doctor to ask about your child's signs and symptoms, their duration, and any family history. Remember to share as much detailed information as possible with your healthcare provider to ensure the best possible care for your child.