Angelman Syndrome – Causes, Pictures, Symptoms, Treatment

Angelman syndrome is a rare neurological and genetic disorder that causes neurological problems, developmental disabilities and many times, seizures in children aged between 6 to 12 months. Children suffering with Angelman syndrome are generally laugh and smile frequently and show happy and impulsive personalities. Although, people suffering from Angelman syndrome live a normal life but this disorder is not curable.

People suffering from Angelman syndrome are not able to speak properly but can learn to communicate by other means of communication such as gesturing. They can understand simple form of language communication but unable to understand complex form of communication.  The affected child may not move his limbs and legs fully and it also affects his intellectual ability. Every 1 child in 20,000 children has Angelman syndrome. In many cases, the child who has developed this disorder will have smaller head than normal children. He may develop epilepsy and other nervous disorders. Genetics play an important role in transmitting the disease of developmental delay along with neurological problem. Adults who have Angelman syndrome have distinct characteristics of flat heads, protruding tongues and they would give jerky movements. Since the issue involves delay in normal development, no permanent cure or treatment is available for Angelman syndrome.

Angelman Syndrome Causes

Angelman syndrome is a genetic problem and caused by the gene, located on the chromosome 15 (region- 15q11-q13). Chromosome is the carrier of genetic information of each individual and located in the nucleus of human cell. The human body has 46 chromosomes. Chromosome number 15 is known as ubiquitin protein ligase E3A (UBE3A) gene. The deficiency or abnormality of ubiquitin protein ligase E3A gene causes Angelman syndrome. The type of abnormalities or deficiency may include

• Absence of the gene
• Changes in the gene structure
• Changes in the gene function
• Changes in the gene expression
• Chromosome deletion
• Chromosome imprinting error
• UBE3A mutation
• Parental uni-parental disomy

It is also important to know that only maternal part of UBE3A gene is found active in the brain, so it is extremely possible that the maternal part of the gene is damaged or missing. Sometimes, two copies of the gene are inherited from parents, instead of one from each parent that also causes Angelman syndrome.

Read : Apert Syndrome

Angelman Syndrome Symptoms

Symptoms of Angelman syndrome include

• Delay in development that include no crawling or babbling in 6-12 month old babies
• Minimal or no speech
• Intellectual disability
• Difficulty in walking, balancing or moving
• Happy and excitable personality
• Frequently smiling and laughing
• Presence of seizures between age of 2-3 years
• Jerky or stiff movements
• Tongue shoving
• Small size of head
• Light color of skin, eyes and hair
• Uplifting of arms and hand flapping while walking

Signs

Mostly, babies does not show any sign of Angelman syndrome at birth. The first signs of syndrome often start in babies between 6 -12 months of age in the form of developmental delays such as lack of babbling or crawling. Seizures generally start in babies at the age of 2-3 years. 

Risk Factors

Angelman syndrome is a rare disorder and its causes are still unknown. The genetic changes that develop angelman syndrome are under research.  People, with Angelman syndrome generally do not have any family history of the disorder. Risk factors associated with Angelman syndrome are

• difficulties in feeding- infants experience difficulty in coordinating sucking and swallowing and cause feeding problems
• Hyperactive babies- babies do not enjoy one activity and continuously move from one activity to another activity. These babies always keep a toy or their hands in their mouth.
• Sleep disorders- babies have abnormal sleep patterns and needs less sleep
• Curving of the spine (scoliosis)- an abnormal side spinal curvature with the time
• Obesity- babies have big appetite that make them obese

Diagnosis

The physical appearance of the child may help the doctor to suspect Angelman syndrome. Problems such as difficulty in walking and balancing, small head size, frequently laughing, and flatness in the back side of the head can help doctor to predict syndrome but a definitive diagnosis can be made only by a blood test. A genetic test for angelman syndrome can identify child chromosomal abnormalities. The combination of genetic tests can review

• Parental DNA pattern- this test is also known as a DNA methylation test and can screen three to four genetic abnormalities
• Missing chromosomes- a chromosomal microarray can detect missing portions of the chromosome
• Gene mutation- a test to understand mutation in the gene

Angelman Syndrome Treatment

Angelman syndrome does not have any cure. The treatment can only reduce its effect. The type of treatment differs widely with individuals and a panel of doctors and specialists are working together for addressing various problems occurring due to Angelman syndrome. The main treatment options for Angelman syndrome include

• Anti-seizure medication- medications for controlling seizures
• Physical therapy or physiotherapy- for getting back normal movements of hands and legs for walking, improves motor abilities
• Communication therapy or speech therapy- for improving slurring speech in children and to learn sign language and picture communication
• Behavior therapy- to overcome hyperactivity and improve development phase

Home Remedies

There are no such natural home remedies for Angelman syndrome. It is a genetic disorder and need to cure genetically.

Read : Prader Willi Syndrome

Prevention

Angelman syndrome may be inherited from an affected parent to the new born baby. If anyone having a family history of Angelman syndrome or have a child with Angelman syndrome, then he should visit doctor or genetic counselor to avoid problems in future pregnancies. Genetic counseling to siblings and other family members are recommended to reduce chances of Angelman syndrome. It is the only way to prevent our babies from syndrome as it is a result of genetic mutation and can be cured only genetically.  The recurring possibility of the syndrome in family members is around 50%.

Conclusion

Angelman syndrome is incurable disorder and needs genetic treatment. Researchers are intently target specific gene to get its treatment. Currently, treatment for Angelman syndrome only focuses on to reduce or control problems associated with health and development of the child. Early detection, custom made interventions and therapies has improved the quality of life in effected persons. Many research institutes support and conduct research to diagnose, prevent, treat, and cure Angelman syndrome.