Angelman Syndrome (AS) is a rare genetic disorder. It affects the nervous system and causes developmental delays, speech and balance problems, mental disability, and distinctive behavioral traits. It was first identified by Dr. Harry Angelman in 1965. Affected individuals often laugh and keep smiling. 1 out of 15,000 people is affected by this disease.
Angelman syndrome affects individuals’ motor skills, cognitive development, and quality of life. Though there is no cure for this disease, early diagnosis and immediate treatment are essential for managing symptoms effectively and improving the quality of life.
To understand more about neurological conditions affecting motor skills, check out our detailed guide on Acute Flaccid Myelitis (AFM).
Symptoms
Angelman syndrome appears with a variety of symptoms. These symptoms greatly affect daily functioning and quality of life. Common symptoms are:
- Developmental Delays: Children with Angelman Syndrome suffer from developmental delays like walking, talking, and self-feeding. These delays appear in motor skills and communication abilities.
- Severe Speech Impairment: Individuals having AS often lack communication ability or have limited communication skills. They use alternative communication methods like sign language or communication devices to interact and express needs.
- Sleep Disorders: Angelman syndrome also causes sleep difficulty. Affected individuals suffer from irregular sleep patterns and insomnia. It also impacts overall health and daily functioning.
- Seizures: Seizures are common symptoms of AS. Seizures begin in early childhood and continue into adulthood. Proper medication and regular monitoring of the condition are essential for the effective management of seizures.
- Movement and Balance Issues: Walking becomes difficult for people with AS due to movement and balance problems, which results in frequent falls and trouble with fine motor activities. Ataxia and a distinctive gait characterize AS.
- Behavioral Characteristics: Affected individuals show unusually cheerful behavior. They frequently smile and laugh. In some cases affected individuals may also exhibit hyperactivity, frequent fits of excitement, and less attention duration.
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When to See a Doctor
If you observe developmental delays, speech and balance problems, and movement difficulty in a child, you should consult a healthcare provider. Early diagnosis and immediate treatment greatly improve the quality of life.
At Fitwell Hub, experienced doctors are available to provide you with complete care and guide you through the essential treatments. Ready to take the first step toward a healthier, happier you? Book an appointment with us today, and let our experts guide you on your wellness journey!
Causes
Angelman Syndrome primarily results from genetic mutations affecting the UBE3A gene on chromosome 15, crucial for normal brain development. The most common cause is the deletion of the UBE3A gene on the maternal chromosome, leading to impaired brain functionality. In some cases, genetic imprinting errors improperly silence the maternal UBE3A gene, preventing its expression.
Other causes include chromosome 15 duplication, interference of UBE3A gene expression, and mutations in the UBE3A gene that impair protein production necessary to the working of the brain. Other causes include paternal uniparental disomy of chromosome 15, where a child receives both copies of chromosome 15 from the father and none from the mother; this leads to the loss of active expression of the UBE3A gene from the maternal side contributing to the syndrome.
Risk Factors
The following factors increase the risk of developing Angelman syndrome:
1- Family History of Genetic Disorders
Individuals having a family history of genetic disorders are at higher risk of developing Angelman syndrome. Individuals may inherit genetic susceptibility. For such families, genetic counseling is important.
2- Advanced Maternal Age
Older age mothers are at higher risk of genetic mutation leading to Angelman Syndrome. In older females, the risk of chromosomal errors increases during conception.
3- Prenatal Exposure to Certain Drugs
During pregnancy, the use of excessive medications or drugs affects fetal development and increases the risk of genetic disorders leading to Angelman syndrome. Avoiding harmful substances and proper prenatal care is necessary.
Complications
If left untreated, Angelman syndrome can result in a variety of complications. These complications severely impact daily quality of life and health. The complications include frequent seizures that require medication and constant monitoring of the condition; serious sleep issues like inconsistent sleep patterns and working insomnia; exhaustion during the completion of daily activities; movement issues like difficulties in balancing and coordinating themselves, which would naturally require physical treatment; and social and behavioral problems, including hyperactivity and bursts, impacting social life and requiring behavioral therapy.
Prevention
Although Angelman syndrome cannot be completely prevented, the following preventive measures help manage it effectively:
1- Genetic Counseling and Testing
Genetic counseling is important to provide information and guidance to genetically susceptible families, helping them to evaluate the risk of passing on genetic disorders. Performing genetic testing before conception or during early pregnancy identifies the risk factors.
2- Prenatal Screening
Regular prenatal screening is essential to detect genetic mutations during early pregnancy. These screenings identify susceptible pregnancies and allow for informed decisions and early healthcare management if required.
3- Monitoring for Developmental Delays
Regular monitoring of infants and young children during developmental milestones identifies early delays. Early detection of developmental issues allows support and timely treatment.
4- Early Intervention Services
Facilitation of early treatment procedures services, like physical, occupational, and speech therapy, greatly improves results for children with developmental delays. Early support helps to overcome challenges and promotes better development.
5- Ongoing Medical Care
Ongoing medical care and regular check-ups are crucial for managing symptoms and complications linked with Angelman Syndrome. Providing continuous care ensures immediate treatment of health issues and the use of appropriate therapies.
For more information on disease prevention and maintaining a healthy lifestyle, explore how telemedicine services at Fitwell Hub can provide timely diagnosis and personalized care solutions.
Diagnosis
Clinicians diagnose Angelman syndrome using a combination of clinical evaluation and genetic testing:
1- Clinical Evaluation
Clinicians thoroughly evaluate the individual’s medical history, developmental milestones, and physical symptoms during clinical evaluations.
2- Genetic Testing
Doctors recommend genetic testing to confirm Angelman Syndrome. Experts evaluate DNA to detect mutations or deletions in the UBE3A genes.
3- Neuroimaging
Doctors use imaging techniques (MRI) to examine the brain and identify other neurological conditions.
4- Developmental Assessments
Clinicians use detailed developmental assessments to evaluate cognitive, motor, and language skills.
5- Family History Review
Having a complete review of the family medical history provides insights into genetic susceptibility and helps in understanding the development of hereditary conditions. This review provides valuable data for diagnosis and genetic counseling.
For comprehensive diagnostic services, Fitwell Hub offers a wide range of tests. Visit our lab for more information.
Treatment
Although there is no cure for Angelman syndrome, various treatments help manage symptoms:
1- Physical Therapy
Physical therapy is used to improve motor skills, balance, and coordination. It helps affected individuals increase their physical abilities, manage mobility issues, and improve overall physical function through proper exercises and activities.
2- Speech Therapy
Speech therapy helps individuals develop alternative communication methods and improve their ability to express needs and interact.
3- Behavioral Therapy
Therapists use behavioral therapy to develop strategies that manage mood swings, hyperactivity, and attention problems, helping individuals overcome social and behavioral issues.
In affected individuals, it develops coping skills, improves social interactions, and enhances daily functioning. For more details on treatments and support options, visit our Smart Clinic at Fitwell Hub to explore personalized care and comprehensive healthcare services.
Medications
Doctors prescribe the following medications to effectively manage the associated symptoms and problems.
1- Antiepileptic Drugs
Seizures are among the major symptoms of Angelman syndrome. Doctors prescribe antiepileptic drugs to prevent seizures. The drug reduces the frequency and intensity of seizures.
2- Medication for Sleep Disorders
Certain medications are prescribed to overcome sleep disorders. This also improves the quality and condition of sleep.
3- Medications for Behavioral Issues
These are prescribed for the treatment of behavioral disorders like mood swings and hyperactivity so that social interaction can be improved and functioning in the daily lives of individuals is also enhanced.
At Fitwell Hub, our pharmacy provides a wide range of medications for treating Angelman syndrome and related conditions. Visit our pharmacy to explore available options and consult with our experts.
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Frequently Ask Questions (FAQ’s)
It is a rare genetic disorder. Angelman syndrome affects the nervous system and causes developmental delays, speech and balance problems, mental disability, and distinctive behavioral traits. It is caused by mutations in the UBE3A gene on chromosome 15.
Developmental delays, speech and balance issues, movement difficulty, frequent seizures, and sleep issues are common causes of Angelman syndrome. Affected individuals also keep on smiling and laughing.
Angelman syndrome is caused by genetic mutations in the UBE3A gene on chromosome 15. It includes deletions, mutations, imprinting errors, and duplications of genes.
For the diagnosis of Angelman syndrome, clinical evaluation, genetic testing for UBE3A gene abnormalities, neuroimaging to find out other associated problems, developmental assessments, and reviewing family history are used.
Treatment is used to manage symptoms through physical therapy, speech therapy, behavioral therapy, and medications for seizures, sleep disturbances, and behavioral issues.
