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

 

Intellectual Disabilities And Epilepsy

According to the Epilepsy Foundation, epilepsy is the fourth most common neurological disorder and affects people of all ages. In fact, 1 in 26 people have seizures and while people who are diagnosed with epilepsy may have no other problems, this is not the case for children and adults with an intellectual and developmental disability where the rates are much higher.

Click here to download PDF format

It is estimated that 30% of children with epilepsy also have another type of disability. Some studies show that children with an intellectual disability and cerebral palsy, had a 35% chance of developing epilepsy, children with an intellectual disability alone had an 8% chance and children with a brain injury occurring after birth stood a 75% chance of developing epilepsy. Statistically, the risky of a child with a developmental disability experiencing an unprovoked seizure by age 5 is 4 times likely than the general population. It is estimated 1.8% of U.S. adults have epilepsy compared to 22% among people with intellectual disabilities.

People with intellectual disabilities tend to also have worse prognosis with adults having a higher rate of death including Sudden Unexplained Death In Epilepsy (SUDEP).

Epilepsy

Epilepsy is a chronic disorder with recurrent unprovoked seizures. According tot he National Institute of Neurological Disorders and Stroke (NINDS), epilepsys are a spectrum of brain disorders ranging from severe, life-threatening to ones that are more benign. The International League Against Epilepsy created a new definition of epilepsy. A person is considered to have epilepsy if they meet any of the following conditions:

  1. At least two provoked (or reflex) seizures occurring greater than 24 hours apart.
  2. One Unprovoked (or reflex) seizure and a probability of further seizures similar to the general recurrence risk (at least 60%) after two unprovoked seizures, occurring over the next 10 years.
  3. Diagnosis of an epilepsy syndrome

A seizure is defined as an event and epilepsy is the disease involving recurrent unprovoked seizures.

Intellectual Disability

According to DSM-5, an intellectual disability is a disorder with onset during the developmental period that includes both intellectual and adaptive functioning deficits in conceptual social, and practical domains including deficits in intellectual functions such as reasoning, problem-solving, planning, abstract thinking, judgment, academic learning and learning from experiences.  The severity levels range from mild to profound.

Although there is a high relationship between epilepsy and an intellectual disability, little research has been conducted on safe prescribing practices of an antiepileptic drugs for people with intellectual disabilities. What is known about epilepsy and an intellectual disability is that more severe disabilities are typically caused by damage to the brain

Why is it important to discuss?

Given the large number of people with an intellectual disability and epilepsy, treatment may be more complicated due to multiple impairments including people with a diagnosis of autism, intellectual disability and epilepsy. More research needs to occur which will help to reduce morbidity rates and help to develop accurate guidelines.