Angleman Syndrome and Adulthood

Angelman syndrome is a genetic disorder that affects the nervous system. Characteristics include developmental delays, intellectual disabilities, epilepsy, short attention span, hyperactivity, hand flapping and speech impairments. It is a rare disorder that affects 1 in 12,000 to 20,000 a year. there are less than 200,000 cases a year and affects all ethnicities and sexes equally.

Typically, there is a severe developmental delay and learning disability as well as near absence of speech and ataxia including ataxia including jerky movements of the arms and legs. People with Angelman syndrome generally have a happy demeanor and an inappropriate laughter.

Life expectancy appears to be normal. As people with Angelman syndrome age, scoliosis tends to worsen and for many people born with epilepsy, there are cases where seizures stop, however, they tend to return as the person gets older.

 

Due to cognitive and medical needs, a person with Angelman syndrome will always require support. Most people with Angelman syndrome attend a day habilitation setting. Support should include

  • staff trained on identifying seizures and providing assistance
  • programs that support the person’s short attention span
  • evaluation for a communication device or a means to communicate
  • support for self-injurious behavior

The following are resources and articles on Angelman syndrome and adulthood

Angelman Syndrome and Obesity (Angelman Syndrome) A 2017 study reporting on a third of Angelman syndrome patients were overweight or obese.

Angelman Syndrome in Adults– (Angelman Syndrome News). An article that describes signs and symptoms of individuals with Angelman Syndrome as they approach adulthood

Anxiety in Angelman Syndrome (Angelman Syndrome News). A topic on anxiety which is commonly observed in individuals with Angelman syndrome including information on triggers and ways to manage anxiety.

AS in Adulthood (AngelmanUKorg). A website describing the transition to adulthood and issues affecting people with Angelman syndrome.

Dental Problems in Angelman Syndrome (Angelman Syndrome News). Information on how people with Angelman Syndrome may be affected and possible treatment plans.

Transitioning to Adulthood Checklist. Created by the Angelman Syndrome Foundation, provides a 4-page checklist resource for students preparing to transition out of school.

Down Syndrome and Obesity

Obesity is a major health concern and is more common in individuals with Down syndrome than the general population. Obesity is defined as excessive fact accumulation that increases health risk. It is an abnormal accumulation of body fact usually 20% of a person’s ideal body weight.

Medical complications of obesity includes sleep apnea, lung disease, pancreatitis, heart disease, cancer, arthritis, inflamed veins and gout. When the body mass increases, so does the risk of having a heart attack or heart failure.

In a study published by the American Association Intellectual and Developmental Disabilities found a difference between studies on children versus adults with Down syndrome. Children with Down syndrome have consistently been found to exhibit a reduced resting metabolic rate meaning children with Down syndrome are at a great risk for weight gain since they will burn fewer calories. at rest during activities.

Children with Down syndrome also tend to have a condition known as hypothyroidism. Approximately 10 percent of children with Down syndrome have hypothyroidism. As children with Down syndrome get older, eating behaviors change leading to obesity (Approximately 30%). These changes may be due to low muscle tone or inactivity due to thyroid problems or heart conditions.

Exercise and recreation are crucial to the well-being of individuals with Down syndrome. The following are strategies for helping to maintain weight control and to live longer and healthier lives:

  1. Develop a regular exercise program. According to Drs. Chicoine and McGuire, authors of The Guide to Good Health for Teens and Adults with Down syndrome, Exercise should be free of risk. Push ups and weightlifting are not appropriate due to many people with Down syndrome who have issues with the upper 2 vertebrates.
  2. Swimming is an effective exercise. Many pool have walking exercises in the pool as well.
  3. Exercise should be fun, socially and realistic.
  4. For older adults with Down syndrome, look for teachable moments to teach portion control, drinking enough fluids, and eating a well-balanced meal.

Reference

Chicoine, B. and McGuire, B. (2010). The Guide to Good Health for Teen and Adults with Down Syndrome. Bethesda, MD