Babies can develop different developmental disabilities – Angelman Syndrome is one of them.
This is a rare congenital genetic condition characterized by a baby’s speech impairment, learning disabilities, developmental delays and in most cases also seizures. Angelman syndrome affects the nervous system and results in both physical as well as intellectual disabilities in the person. There’s no cure for this disorder; nonetheless, via awareness about this condition and support for the affected person, you can enrich his/her life and make it fruitful.
Angelman syndrome is rare disorder – occurring in one baby in over 20,000 births. Named after Harry Angelman, the physician who first investigated this disorder in the mid 1960’s, angelman syndrome may be present at birth but the signs often come visible often between age 6 and 12 months. It’s usually the family that first identifies the developmental delays in the affected baby when he is compared with his peers. The initial delays could relate to not crawling as per age, no mumbling of words, and a constant happy demeanor. As the child will grow older, the misses will become even more evident and most kids with angelman syndrome may also start experiencing seizures by the time he becomes 2.
Also, a baby with this developmental delay may face trouble feeding, swallowing, etc. So, if you have noticed any developmental delay in your child, schedule an appointment urgently.
A baby receives genes from both his parents – one from the father and the other from the mother, making it a pair. In the case of angelman syndrome, a gene located on chromosome 15 is often found to be missing or damaged. This gene is known as ubiquitin protein ligase E3A gene, which is commonly the gene received from the maternal side. This leaves the baby with two genes inherited from the paternal side.
A baby with angelman syndrome may face difficulty in talking, communicating, moving around and so on. He may nonetheless have a normal life span but the occurrence of seizures and other health scares need to be put under check.
Besides the gene mutation, the hereditary connect in several cases can’t be undermined. Having a parent or a close relative with this disorder puts a baby at a higher risk of getting it as compared to others.
A person suffering from angelman syndrome would display a number of physical as well behavioral signs that include:
The first test your child’s doctor would conduct is to physically examine the baby to look for the sure shot signs. By monitoring the child’s behavioral pattern and the delays, the doctor can easily come to the conclusion whether or not your baby is suffering from angelman syndrome.
Besides this, your doctor may even recommend getting a few genetic tests done. This can help you identify the risks and minimize the same in case of future pregnancies.
There’s no cure for angelman syndrome – nonetheless, via timely and appropriate medicines and therapies, most of the symptoms can be brought under control. This includes controlling his seizures, helping him sleep better, help with his food, sign language to help him communicate, and physical therapies to help maintain his posture and movement.
Kids often benefit from such treatment procedures and one can hope to make the life of the affected person better via these tools.
The best way to help a person with this developmental disability is to gather as much knowledge you can on the condition so as to be able to provide him the required support. Whether it is a child or an adult, via appropriate knowledge of the disability you can surely touch his/her life.
You can also get the person enrolled into a facility that offers help with speech and language intervention, occupational therapies and counselling. Also, by meeting families with members with this syndrome, you can yourself find a lot of support in helping a person with angelman syndrome.