Angelman syndrome can cause intellectual disability and developmental disorder in children. It also causes movement problems, seizures, and sleep disorders. The problem is characterized by an atypical happy demeanor. So, children suffering from the syndrome look happy always. It was earlier referred to as happy puppet syndrome. But, the term is now considered harsh or judgmental. The genetic disorder affects one in 15,000 births around the world. It is mostly characterized by distinctive facial features along with other signs. Though the problem occurs at birth, you can only recognize when the child is six to twelve months old. The rare condition is often misdiagnosed as cerebral palsy or autism. Therefore, it is necessary to make a proper diagnosis for better management of the symptoms.
What Is Angelman Syndrome?
It is the genetic disorder that affects the nervous system, resulting in severe neurological problem and problems with development. The syndrome is named after famous physician Harry Angelman, who delineated the problem in 1965. The syndrome differs from other neurological issues in children due to the difference in personality. The affected children often smile or laugh frequently. They have an excitable personality with bouts of laughter. Unfortunately, the syndrome has no cure. But, people affected by it tend to have a normal life span. You need to focus on managing the symptoms as well as the developmental issues associated with the syndrome.
Symptoms Of Angelman Syndrome
In most cases, the babies look healthy at birth. You cannot see visible signs or symptoms that indicate any problems. The first sign occurs when the child is six or twelve months in age. In most cases, the developmental delays like lack of babbling or crawling can indicate some problem. You can also see other visible signs due to the genetic disorder like:
- Intellectual disability
- Ataxia (difficulty in moving, walking or balancing properly)
- Frequent smiling
- Bouts of laughter
- Excitable and happy personality
- Frequent seizures (it mostly occurs when the child is around two or three years of age)
- Jerky or stiff or movements
- Tongue thrusting
- Small head size (microbrachycephaly)
- The flat back of the head
- Hypopigmentation (It causes the skin, hair, and eyes have light color)
- Unusual actions or behaviors like uplifting arms and hand flapping while walking
If you observe any of such signs in your child, you need to contact your doctor. It is essential to get professional help to manage the signs. It helps in better management of the symptoms and leads a better life. The assistance from the child’s doctor can offer a better quality of life to the affected children.
Cause Of Angelman Syndrome
The genetic disorder occurs when your child has a defective gene. UBE3A gene plays an important role in leading to the disease. UBE3A (Ubiquitin Protein Ligase) is the gene located on chromosome 15. The problem to the UBE3A causes the problem. So, the main reason for the syndrome is:
Defective Or Missing Gene
In normal cases, a person inherits one copy of the UBE3A gene from each of their parents. The pairs of the gene, one from the mother (maternal copy) and another from the father (paternal copy) are necessary for proper brain functioning. In most cases, the cells in the body use information from both the maternal and paternal copies. Both copies of the gene become active in many areas of the body for normal functioning. The syndrome occurs when a single copy (not both) becomes active in certain areas of the brain. So, the absence or defect in one copy of UBE3A in a small number of genes results in Angelman syndrome. Researches show that the maternal copy of UBE3A is responsible for the normal activity in the brain.
In 70% of cases reported around the world, the chromosomal error occurs randomly. So, it can affect any pregnancy, irrespective of the history of the syndrome present in your family or not. The chromosomal error can lead to complete deletion or defect of chromosome 15. In most cases of the syndrome occurs when a child misses or has defects in the maternal copy of genes. So, mothers who have the UBE3A mutation have a 50% chance of passing to their baby. But, in rare cases, the syndrome can occur when your child inherits two paternal copies of genes instead of one from each parent.
Risk Factor Associated With Angelman Syndrome
Unfortunately, the exact reason for the genetic disorder remains a mystery to scientists. It is a rare problem affecting people with no family history of the disease. Therefore, the changes in the genes leading to the problem remain unclear. Angelman syndrome occurs when your child inherits the defective genes from a parent. So, people with a family history of the disease need to take ample precaution as their risk of having children with the syndrome increases compared to others.
Complications Due To Angelman Syndrome
Children and adults suffering from the syndrome need professional assistance. Otherwise, the symptoms can lead to other complications. The most common complications associated with the syndrome are:
People suffering from the syndrome have trouble coordinating the sucking as well as swallowing involved in eating. So, it results in feeding problems, especially in infants. When you consult a pediatrician, they may recommend a high-calorie formula. It is easy to increase the weight of the baby with the formula and provide ample nutrition when feeding becomes difficult.
Children with the syndrome are hyperactive. They tend to move quickly from one activity to another. The children also have a short attention span, which makes it difficult for them to focus on specific tasks. Children also tend to keep their hands or toys in the mouth frequently. The hyperactive nature can make it difficult for the caregivers as they tend to lose patience with the children. But, the hyperactivity often decreases with increasing age. It requires no specific medication to control the hyperactivity.
It is another complication associated with the syndrome. People suffering from the genetic disorder can experience abnormal sleep and wake patterns. They also tend to sleep less than normal people. Sleep disorders can get better as time progresses. You can seek the assistance of a doctor to get medication to control the issue. Behavior therapy can also control the problem to a great extent.
Low Muscle Tone
Hypotonia also referred to as floppy baby syndrome is another complication associated with the syndrome. The problems in the nervous system can make the infants suffering from the syndrome appear like rag dolls. The children cannot maintain flexed ligaments. So, they can extend them beyond the normal length. It also causes uncontrollable head movements. The low muscle tone leads to developmental delays. Therefore, you need to access specialized care customized according to the severity of the issue from the medical professionals.
It is also known as the curving of the spine. The problem causes the affected person’s spine to have an abnormal side-to-side curve. It develops in more than 40% of the affected individuals. So, it needs medical intervention. The doctor can suggest braces for minor cases, while the severe ones need surgical correction.
Angelman syndrome can trigger large appetites in older children. Therefore, it leads to binge eating and ultimately obesity. It is one of the common symptoms associated with the syndrome. Children need therapy to control excess eating.
People affected by the syndrome can experience seizures. 80% of people affected by the syndrome can experience epilepsy. Some people experienced multiple seizure types.
Despite the severe complications associated with the syndrome, people affected by it can have a good life expectancy. The modern medical practices have ensured a dramatic increase in life expectancy. But, you need medical assistance for improving the quality of life. The problem affects people differently at a different point in their life. So, customized treatment options can ensure improved quality of life.
Diagnosis Of Angelman Syndrome
If you see any visible signs discussed in the article, then you need to see a doctor. Your child’s doctor can assess the symptoms and determine the actual cause of the developmental delay. To make a positive diagnosis, the doctor can perform the following:
It is the first step in diagnosing the problem. The doctor checks for physical signs and symptoms like small head size or flatness in the back of the head in your child. Your child’s movement and balance are assessed closely. The laughing bouts also indicate the problem. Once your doctor suspects the problem, your child needs to undergo other tests for precise diagnosis.
The doctor can come to a precise conclusion by ordering genetic testing. For the test, your child’s blood gets assessed in the lab. It can identify the different abnormalities in the chromosomes in your child’s blood. The abnormal chromosome can point towards Angelman syndrome. The combination of genetic testing can indicate a genetic disorder. The reviews the following:
Parental DNA Pattern
The also known as DNA methylation test can screen for genetic abnormalities. It detects three out of the four abnormalities triggering the syndrome in children. The test is the most sensitive diagnostic one, which can identify the problem in individuals. It has more than 80% success rate in detecting people with the syndrome. Methylation refers to the tag in the DNA that helps with the identification of the specific DNA (either from father or from the mother) causing the problem. The pattern of the tag is unique for mother and father. So, it helps detect the source of the genetic disorder.
CMA (Chromosomal Microarray)
It is the comprehensive genetic testing that offers insight into the common chromosomal conditions as well as genetic problems. It explores the chromosomes in details and checks for the missing portion of chromosomes.
Fluorescence in Situ Hybridization is the test that can map your child’s genetic material in cells. The test helps in visualizing a portion of genes or specific genes to detect any problems.
In some rare cases, the syndrome occurs when the individual’s maternal copy of the UBE3A gene is mutated. The gene is active, but the mutation can trigger the syndrome. The mutation can lead to the problem even if the DNA methylation test comes back normal. So, your doctor can suggest the UBE3A sequencing to check for the problem.
Treatment For Angelman Syndrome
The genetic disorder has no complete cure. You can only opt for methods that can manage the symptoms associated with the problem better. The current treatment options only manage the developmental problems and medical issues associated with the syndrome. But, researches are focused on offering treatment for specific genes that cause the issue. So, in the future, the medical community can come up with better treatment options. Your child can manage the symptom associated with the syndrome better by working with a team of doctors. The health care professionals can suggest options depending on the individual signs your child shows. So, it helps manage the condition. The different options available are:
Depending on the type of seizure the affected person experiences, the doctor can suggest anti-seizure medication. Also known as anticonvulsant medication, it can offer relief to an extent. Sometimes, the doctor suggests melatonin, a sleep hormone. It not only improves sleep patterns but also reduces seizures.
It can help with better mobility and overcome movement problems. Along with supportive braces, physical therapy can help your child walk properly. It also aids in maintaining joint flexibility. Physical therapy focuses on preventing stiffness of the joint due to not using it.
It teaches your child to learn about self-care. Therefore, they can learn basic things like dressing oneself, personal hygiene (brushing teeth and going to the bathroom, and other everyday skills required in life.
Verbal communication takes a big hit with the genetic disorder. It becomes a long-term challenge for children suffering from the problem. It even affects them in their adulthood. Therefore, communication therapy can help them communicate with others using a sign language or picture communication. It can stress word recognition and help them express their feelings. So, communication therapy will improve the quality of verbal as well as non-verbal interactions.
It helps the children identify the potentially unhealthy and self-destructive behavior and change them. So, children affected by Angelman syndrome can overcome short attention span and hyperactivity using the therapy. It aids in their development by focusing on positive aspects.
You need to understand that no specific therapy can help your child overcome the seizures. The different therapies can help the individual reach their maximum developmental potential.
Coping And Support For Parents
When your child is diagnosed with Angelman syndrome, it can overwhelm you. You never know what to expect or how to take care of a child with the problem. The difference in parenting technique can also put stress on you. Apart from that, the medical concerns and developmental disabilities can devastate you. So, you need the support and assistance to manage it. You can access the following resources to ensure you gain strength to handle the problem well. Here are some pointers that help you manage your child’s problem proactively:
Work With A Team
You need to find a team of good doctors and therapists. The proficient team must offer assistance in taking important decisions in the care and treatment of the child affected by the syndrome. You need to trust the professionals and take their suggestion for better care. The team must also offer you help in finding the local resources to handle the problem.
Access Assistance From A Support Group
A support group has parents of another child or children who suffer Angelman syndrome. So, you can connect with others and share experiences. It will offer insight on how to deal with any problem that arises during the care of affected children. Therefore, talk to your doctor to get information on the organizations and support groups that can offer assistance.
Preventing Angelman Syndrome
You cannot prevent Angelman syndrome as it occurs due to defective genes. But, if you have someone in the family with the disease or already have a child with the syndrome, then you can undergo genetic testing. It will reveal if you carry defective genes or not. It will help you plan the future pregnancies and avoid passing the defective gene.
Learning that your child suffers from Angelman syndrome can affect you. Remember the problem needs lifelong care and management. It has no cure and the child will always have developmental issues. But, never lose hope as you have methods to bring out the potential in your child affected by the syndrome. You need to have a positive outlook while caring for the syndrome affected child. So, find support from other parents or organizations that can offer the right guidance. With better medical care and other therapies, your child can develop good communication and social skills. Gain better insight into the issue of handling the current and future needs of the child better.
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