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.

Cerebral Palsy and Secondary Issues

Cerebral palsy affects people differently including; learning disabilities, intellectual disabilities, behavioral challenges, Attention Deficit Hyperactivity Disorder (ADHD), and Executive Function Disorder. People with cerebral palsy often have medical issues as well including, epilepsy, hydrocephalus, swallowing difficulties, vision problems, aspiration and constipation.

Seizures
  • a seizure is a sudden, out of control event that can cause involuntary movement.
  • It occurs when there are bursts of abnormal electrical activity in the brain which interferes with normal brain functioning.
  • The brain constantly sends unusual electrical messages very close together.
  • Inform the participants that seizures are the most common of associated problems.
  • Experts believe that seizures are the result of scarred tissue in the brain.
  • About 50% of people with cerebral palsy suffer from seizures.
  • Epilepsy is more common in the child with spastic quadriplegic
  • Complex partial seizures are the most common in people with cerebral palsy
  • in most cases, it is unknown the cause of seizures.

Cases which the cause is known include

  • Serious brain injury
  • Lack of oxygen
  • Bleeding in the brain
  • Infection in the brain including meningitis and encephalitis
  • Inflammation of the brain
  • Co-occurring conditions that involve an intellectual or developmental disabilities

Treating Seizures

  • Try to keep calm and make sure the person having the seizure is comfortable and safe from harm.
  • A seizure can last from a second or several minutes

Do Not:

  • Do not hold the person down or try to stop his or her movements.
  • Do not put anything in the person’s mouth. This can injure teeth or the jaw. A person having a seizure cannot swallow his or her tongue.
  • Do not try to give mouth-to-mouth breaths (CPR). People usually start breathing again on their own after a seizure.
  • Do not offer the person water or food until he or she is fully alert.

After the seizure:

  • After the seizure ends, the person will probably be groggy and tired. He or she also may have a headache and be confused or embarrassed. Try to help the person find a place to rest.
Vision Issues
  • The term blindness refers to complete impairment of vision
  • Visual impairment refers to diminished vison or low vision but not total blindness.
  • A person’s right side may include problems with muscles that control the right eye making it difficult for the affected eye to move from side to side.
  • People may appear to be crossed eyes.
  • Explain that people with cerebral palsy may have a condition called strabismus, where eyes do not line up and focus properly because of differences between the left and right eye muscles
  • May only impact one eye which happens to those whose cerebral palsy affect one side of the body.
Learning Disability
  • People with cerebral palsy may have a short attention span, motor difficulties, perceptual difficulties and language difficulties
  • This can impact literacy, numeracy and other important skills.
  • Learning disabilities may also affect fine and gross motor coordination
  • They may tire easily since they have to put more effort into concentrating on their movements and sequence of actions.
ADHD
  • A disorder of the executive function of the brain that allows a person to focus and organize
  • It is a developmental disability that occurs in approximately 3 to 5% of children
  • 19% of children with cerebral palsy will be diagnosed with ADHD
Hydrocephalus 
  • Enlargement of the fluid filled spaces in and around the brain known as ventricles
  • To correct the damaging effects, the fluid build-up is performed involving a shunt
Behavior Challenges
  • Children and adults with cerebral palsy may be more prone to having problems controlling their impulses as well as having difficulty with focus and attention
Hearing Loss
  • Birth injuries can cause partial or complete loss of vision and or hearing in many individuals
  • Possible result of physical damage to the ear due to inflammation of built-up
  • Senorineural hearing loss- nerves that transmit sound information from the outside world to the brain are damaged
Tube Feeding
  • Gastrostomy is used with children with significant eating, drinking and swallowing difficulties to ensure they received enough food and drink.
  • It is surgically placed through the abdominal wall to feed formula, liquids and medication directly to the stomach.
Intellectual Disability
  • Approximately 2/3 of people with cerebral palsy have an intellectual disability
  • 1/3 have Mild
  • 1/3- Moderate
  • 1/3- Normal IQ
  • Children with spastic quadriplegia are more likely to have an intellectual disability

It’s hard to imagine a time when children with disabilities did not have access or the rights to an equal education as those students without disabilities. Prior to 1975, many children with disabilities were living in large institutions or went to private schools.

President Gerald Ford signed into the Education For All Handicapped Children Act (Pubic Law-94-142) now knowns as the Individuals with Disabilities Education Act (IDEA). The purpose of IDEA is to protect the rights of infants, toddlers, children and youth with disabilities and to provide equal access to children for children with disabilities. The following list describes the 13 categories of IDEA eligibility including the definition below:

A child with a disability is defined as a child evaluated as having an intellectual disability, hearing impairment (including deafness), a speech or language impairment, visual impairment (including blindness), a serious emotional disturbance, an orthopedic impairment, autism, traumatic brain injury, an other health impairment, a specific learning disability, deaf-blindness, or multiple disabilities who need special education and related services.

  1. Autism means developmental disability significantly affecting verbal and nonverbal communication and social integration, generally evident before age 3, that adversely affect a child’s educational performance. Other characteristics often associated with autism are engagement in repetitive activities and stereotyped movements, resistance to environmental change or change in daily routines, and unusual responses to sensory experiences.
  2. Deaf-blindness- defined as having both visual and hearing impairments. The combination of which causes such severe communication and other developmental and education needs that they cannot be accommodated in special education programs.
  3. Deafness- a hearing impairment that is so severe that the child is impaired in processing linguistic information through hearing, or with or without amplification, that adversely affects a child educational performance.
  4. Emotional disturbance- a condition exhibiting one or more of the following characteristics over a long period of time
  5. Hearing impairment- an impairment in hearing, whether permanent or fluctuating that adversely affects a child’s performance but that is not included under the definition of deafness.
  6. Intellectual disability- significantly lower general intellectual functioning, existing concurrently with deficits in adaptive behavior and manifested during the developmental period, that adversely affect a child’s educational performance.
  7. Multiple disabilities- A combination of impairments (such as intellectual disability-blindness or intellectual disability-orthopedic impairment). The combination causes severe educational needs that they cannot be accomplished in special education program solely for one of the impairments.
  8. Orthopedic impairment- a severe orthopedic impairment that adversely affects a child’s educational performance. The term includes impairments caused by a congenital anomaly, impairments caused by diseases (e.g. Poliomyelitis) and impairment causes (e.g. cerebral palsy, amputations, and fractures or burns that cause contractures)
  9. Other health impairments- having limited strength, vitality, or alertness including a heightened alertness to environmental stimuli that results in limited alertness with respect to the educational environment that is due to chronic or acute health problems such as asthma, ADHD, diabetes, epilepsy, heart condition, sickle cell anemia and Tourette syndrome which adversely affects a child’s education performance.
  10. Specific learning  disability- a disorder in  one or more of the basic psychological processes involved in understanding or in using language spoken or written that may manifest itself in the imperfect ability to listen, think, speak, read, write, spell or to do mathematical calculations including conditions such as perceptual disabilities, brain injury, dyslexia and developmental aphasia.
  11. Speech or language impairment- a communication disorder such as stuttering impaired articulation, a language impairment, or a voice impairment that adversely affects a child’s educational performance.
  12. Traumatic brain injury- An acquired injury to the brain caused by an external physical force, resulting in total or partial functional disability or psychosocial impairment or both. Traumatic brain injury applies to open or closed head injuries resulting in impairments in one or more areas, such as cognition, language, memory, attention, reasoning, abstract thinking, judgement, problem-solving, sensory, perceptual motor abilities and information processing and speech.
  13. Visual impairment including blindness- an impairment in vision that, even with correction, adversely affects a child’s educational performance. The term includes both partial sight and blindness.

Early Signs of Rett Syndrome

Rett syndrome is a neurodevelopmental disorder occurring mostly in females in which the child exhibits reduced muscle tone, autistic-like behaviors, stereotyped hand movements consisting of wringing and waving. It is a rare disorder that affects about 1 out of 10,000 children and is the most genetic causes of severe intellectual disability in females. Due to similarities to autism and cerebral palsy, it is often misdiagnosed.

Signs similar to autism include outburst, eye contact avoidance, lack of social reciprocity, sensory issues and loss of speech. Signs of Rett syndrome similar to cerebral palsy include short stature, difficulty with walking, gait movement difficulties and delayed ability to walk.

Typically, children born with Rett syndrome develop normally until the age of 6 and 18 months and reach typical development milestones including eye contact, rolling over and grasping objects. As children grow, motor development begins to slow such as walking and muscle movement. The first signs is usually the loss of muscle tone where the child’s arms and legs appear “floppy.”

Other early signs include:

  • Loss of communication abilities
  • Unusual eye movement
  • Breathing problems
  • Irritable and crying often
  • Intellectual disability
  • Seizures
  • Scoliosis
  • Sleep disturbance
  • Irregular heartbeat
More Resources on Rett Syndrome

Over 30 Online Resources on Rett Syndrome

 

Williams Syndrome- Facts and Statistics

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May is Williams Syndrome Awareness Month. It is a rare genetic condition that affects over 1 in 10,000 people worldwide. If you teach in a special needs classroom or work in an adult day habilitation program, it is likely you have experienced working and teaching a student or individual diagnosed with Williams Syndrome. Below you will find some interesting facts and statistics on the disorder:

  • It is a genetic condition that is present a birth.
  • It is a developmental disorder
  • Tend to have a mild or moderate intellectual disability.
  • It is also known as Beuren Syndrome and Williams-Beuren Syndrome.
  • The symptoms were first described by John C.P. Williams in 1961.
  • A year later, German Physician, A.J. Beuren described three new incidents of patients with similar facial features.
  • It is caused by the spontaneous deletion of 26-28 genes on Chromosome #7
  • The deletion is caused by either the sperm or the egg.
  • The deletion is present at the time of conception
  • The most common symptoms of Williams Syndrome includes unusual facial features and heart defects.
  • The diagnosis is typically confirmed after identifying facial features and genetic testing.
  • An individual with Williams Syndrome has a 50% chance of passing the disorder on to their children.
  • Williams Syndrome affects 1 in 10,000 people worldwide.
  • An estimated 20,000 to 30,000 people in the United States are affected.
  • It occurs in both males and females equally
  • It is found in every culture
  • Individuals with Williams Syndrome tend to be overly friendly.
  • People with Williams Syndrome often have difficulty with visual-spatial tasks
  • Congenital heart defects (CHD) occur in approximately 75 percent of children
  • By the age of 30, the majority of individuals with Williams Syndrome have pre-diabetes or diabetes.

 

 

References

Genetics Home Reference

National Organizations for Rare Diseases

William Syndrome Association