How can angelman syndrome be treated

Physiotherapy can identify problem areas and introduce a tailored exercise plan that can, for example, improve motor skills, strength, posture, and balance. An occupational or physical therapist can identify whether braces are needed , and help to order and to fit them. In some patients, a back brace may be needed to prevent the spine from curving excessively known as scoliosis during development.

Ankle and foot braces may help with walking difficulties. In severe cases of scoliosis, where the spine is significantly curved and has the potential to cause damage to organs or is causing significant pain, surgery may be required. Angelman syndrome is often associated with a lack of speech development. Speech and language therapists should be involved from an early stage to assess speech development in the child and help identify what approaches will benefit them the most. This can include learning sign language or introducing augmentative communication aids such as picture cards or Dynavox.

There are also clinical trials looking at treatment for some of the symptoms associated with Angelman syndrome, such as seizures. AngelmanUK is a charity providing information and support for parents and carers of people with Angelman syndrome. You can call their helpline to speak with parents of people with Angelman syndrome, who can offer you advice and support. The website includes a section for parents who have a child who has recently been diagnosed with Angelman syndrome.

You can opt out of the register at any time. Page last reviewed: 30 September Next review due: 30 September Angelman syndrome. Characteristics of Angelman syndrome A child with Angelman syndrome will begin to show signs of delayed development at around 6 to 12 months of age, such as being unable to sit unsupported or make babbling noises.

These include: frequent laughter and smiling, often with little stimulus being easily excitable, often flapping the hands being restless hyperactive having a short attention span trouble sleeping and needing less sleep than other children a particular fascination with water By around 2 years of age, a small head which is flat at the back microbrachycephaly may be noticeable in some children with Angelman syndrome. Other possible features of the syndrome include: tendency to stick the tongue out crossed eyes strabismus skin, hair and eyes that are paler than other family members a wide mouth with widely spaced teeth a side-to-side curvature of the spine scoliosis walking with arms in the air Some young babies with Angelman syndrome may have difficulties feeding because they're unable to co-ordinate sucking and swallowing.

Causes of Angelman syndrome In most cases of Angelman syndrome, the child's parents do not have the condition and the genetic difference responsible for the syndrome happens by chance around the time of conception. Diagnosing Angelman syndrome Angelman syndrome may be suspected if a child's development is delayed and they have the syndrome's distinctive characteristics.

These tests look for: any chromosomes or pieces of chromosomes that are missing changes in the mother's or father's UBE3A gene that they may have passed on changes in the child's UBE3A gene that would stop it from working For each child with Angelman syndrome, it's important to know the genetic change that caused the condition.

ScienceDaily, 21 October University of North Carolina Health Care. Scientists take major step toward Angelman Syndrome gene therapy. Retrieved November 11, from www. Now researchers show it may ScienceDaily shares links with sites in the TrendMD network and earns revenue from third-party advertisers, where indicated.

Print Email Share. Just a Game? Living Well. View all the latest top news in the environmental sciences, or browse the topics below:. The NINDS supports and conducts research on neurogenetic disorders such as Angelman syndrome, to develop techniques to diagnose, treat, prevent, and ultimately cure them.

Scientists are studying cellular, molecular, and genetic mechanisms involved with the syndrome that may lead to gene therapy aproaches. Other research includes efforts to improve the cognitive deficits seen in Angelman syndrome. Angelman syndrome AS is a genetic disorder that causes neurological and psychological problems including seizures, difficult behaviors, movement disorders, and sleep problems.

Gastrointestinal, orthopedic, and eye problems also are often present. Infants with AS appear normal at birth but often have feeding problems in the first months of life and exhibit noticeable developmental delays by months. Seizures often begin between years of age and occur in percent of those with AS. Features that help define the syndrome include very happy demeanor with frequent laughter, poor balance, tremor, and minimal to no speech.

The disorder results from the absence of the UBE3A gene inherited from the mother. The gene provides instructions for a protein that plays a critical role in the normal development and function of the nervous system. There are four types of Angelman syndrome involving problems with chromosomes or mutations in the UBE3A gene.

Other children may have a genetic syndrome that looks like AS but is caused by a different gene. Harry Angelman first reported the syndrome in , when he described three children in his practice with similar symptoms.