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

Cerebral Palsy and Co-occuring Disorders

Cerebral Palsy is defined as a group of disorders of movement and posture causing limitations due to abnormal development in the brain. According to the Centers for Disease Control and Prevention (CDC), many children and adults with cerebral palsy also had at least one co-occurring condition and in some cases more than one. for example, it is not unusual for and individual to have a diagnoses of cerebral palsy with a co-occurring condition of epilepsy and an intellectual disability and associative  issues with an eating disorder.

Understanding both co-occurring conditions and associative disorders is essential in order to develop an effective teaching strategy.

associative issues include aspiration, dysphagia, digestive issues, seizures, intellectual disability, sleep disorder, and speech impairments.

The following links and articles includes information that contain research studies, articles and practical information.

 

Cerebral Palsy and Epilepsy– Cerebral Palsy Guidance

Cerebral Palsy and Seizures– Cerebral Palsy Guidance

Cerebral Palsy and Speech Therapy– Cerebral Palsy Group

Children with spastic cerebral palsy experience lower leg fatigue when walking study shows- Cerebral Palsy News Today

Common health problems associated with cerebral palsy- My Child Without Limits

Communication and swallowing issues for adults with cerebral palsy-EPI

Difficulties in swallowing and coughing in spastic cerebral palsy focus of study– Cerebral Palsy News Today

Digestive health tips for kids with cerebral palsy-Sarah Halstead

Gastrointestinal and nutritional issues in cerebral palsy-practicalgastro.ocom

How does cerebral palsy affect people?-Cerebral Palsy Alliance

Prevalence of cerebral palsy and intellectual disability among children- NCBI

Sleep disorders in kids with cerebral palsy often remain untreated study suggest– Cerebral Palsy News today

Sleep issues among children with cerebral palsy-CP-NET

Seizures in children with cerebral palsy and white matter injuries-Pediatrics

Understanding more about cerebral palsy and seizures– Murdoch Children’s Research Institute

Resources

Centers for Disease Control and Prevention

National Institute of Neurological Disorders and Stroke

What is a Developmental Disability?

March is Developmental Disabilities Awareness month! Although I blogged  the definition of developmental disabilities here, I wanted to give you more information besides the Federal regulation. Quite often, people are confused between the definition of an intellectual disability and a developmental disability.

A developmental disability is described as an assortment of chronic conditions that are due to mental or physical impairments or both. For example, you may have a child or an adult with an intellectual disability or perhaps a person diagnosed with cerebral palsy and an intellectual disability. It is also considered a severe and chronic disability that can occur up to the age of 22, hence the word developmental. A developmental disability can occur before birth such as genetic disorders (i.e. cri du chat, fragile x syndrome,) or chromosomes ( i.e. Down syndrome, Edwards syndrome); during birth (lack of oxygen) or after birth up to the age of 22 (i.e. head injuries, child abuse or accidents).

The disability is likely to occur indefinitely meaning the person will require some type of ongoing service throughout their lives. Finally, the person must show limitations in 3 or more of the following areas of major life activities:

  1. Self-care– brushing teeth, hand-washing and combing hair independently
  2. Receptive and expressive language-ability to understand someone talking and to also be understood
  3. Learning– ability to read and write with understanding
  4. Mobilityability to move around without any assistance
  5. Self-direction– time management, organization
  6. Capacity for independent living– requiring no supervision
  7. Economic self-sufficiency – having a job  and purchasing what one needs

Here are some examples of a developmental disability:

Does everyone with a disability also have a developmental disability?

The answer is no. there are people with disabilities such as epilepsy and cerebral palsy simply have a disability based on the criteria listed above. However, many people with developmental disabilities quite often have a combination of disabilities. For example a child with autism may also have seizures and an intellectual disability or an adult may have cerebral palsy, intellectual disability and epilepsy. In addition there are many people in the spectrum of autism who also have ADHD and so forth.

So what’s the difference between an intellectual disability and a developmental disability?

A person with an intellectual disability falls under the category of a developmental disability meaning you can have an intellectual disability and a developmental disability. check here for the definition of an intellectual disability, you will see they are quite similar. Below is an infographic created by Centers on Disease Control:

An Infographic on Developmental Disabilities.

 

 

Things To Know About Angelman Syndrome

Today is International Angelman Syndrome Day. It is a day to bring awareness to this disorder.

Image result for angelman syndrome infographic

Angelman Syndrome is a genetic disorder that affects the nervous system, characteristics that include developmental delays, intellectual disability, and speech impairments. Angelman syndrome generally go unnoticed until the age of 1 year. Children typically have a happy demeanor and have a fascination with water