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Rett Syndrome

Retts syndrome is a developmental disorder and a neuro-developmental deficit which occurs in the grey matter of the brain. One of the most distinguishing features of this disorder is the fact that it almost exclusively affects females. A child with Rett syndrome develops normally until 6-18 months of age, after which there is a decline in development. The child experiences problems with communication, coordination, language and learning among other features. This condition occurs due to a genetic defect.

Clinical Features:

Clinical features associated with Rett syndrome includes: small feet and hands and slow growth of the head, repetitive hands movements such as: putting your hands into your mouth repeatedly and/or constantly wringing your hands.

If you suffer from Rett syndrome, you frequently experience gastrointestinal symptoms and seizures. You may lack verbal skills and mobility, fail to grow properly, experience chronic constipation and/or develop scoliosis (an abnormal curving of the spinal cord). Rett syndrome is listed in the DSM-IV as a pervasive developmental disorder.

Diagnosis:

Rett syndrome is rarely detected in infants, below the age of 18 months, because at that time your body still presents a normal appearance and developmental pace. A closer observation may reveal certain abnormalities and disturbances in the normal movements and functionality of the limbs that are regulated and controlled in your brain stem. A period of developmental stagnation follows this duration of normal growth and appearance.

Development:

Playing in the rainIf you have Rett syndrome, your development is normal until 6-18 months of age. There may be some insignificant deviation in the development during this time period, which may indicate the presence of Rett’s syndrome. Typically after the 18th month there is a marked period in which there is complete or partial stagnation of development. This period is later followed by regression of the development whereby motor and language abilities regress. There is also a loss of the purposeful usage of the upper limbs and a retarded growth of the head. This results in microcephaly (an abnormally small head) in a significant number of cases of Rett syndrome.

Warning Signs:

Warning signs associated with Rett syndrome include:

  • Short Height and Stature (abnormal body proportions)
  • Mobility Problems (difficulty walking)
  • Malnutrition (which results from difficulty in normal swallowing)
  • Inability to Communicate Nonverbally
  • Hypotonia (loss of the tone of the muscles)
  • Microcephaly (retarded growth of the head resulting in a smaller cranial size than normal)
  • Spasticity (unusual stiffness or tightness of the muscles)
  • Gastrointestinal Disturbances
  • Dystonia (twisted and repetitive movements with abnormal postures)
  • Ataxia (lack of muscle coordination)
  • Chorea (involuntary dancing movements)
  • Grinding of the teeth, also known as bruxism.

Some of the signs may stabilize over a period of time, while the others tend to worsen. Some of the most common problems include seizures and scoliosis.

Symptoms:

Symptoms may include:

  • Uncontrolled  Crying
  • Screaming Fits
  • Inability to Make Eye Contact
  • Complete or Partial Loss of Verbal Skills
  • Emotional Instability
  • Lack of Social Skills
  • Sensory Disorders

Treatments Available for Rett Syndrome:

Rett syndrome is an inherited condition that affects mostly females.

The condition does not have a cure, but can be managed with the help of the following:

Occupational Therapy:

The condition is very debilitating and requires round the clock care. Occupational therapists help you take part in activities that can improve your health and over all well-being. The degree and severity of Rett’s disorder is different for each person.

The long term goal of occupational therapy is to help you improve and maintain your ability to function. Occupational therapists also help parents learn how to care for their child with Rett syndrome. Occupational therapists provide counseling services and resources for your family.

Self-Care

If you suffer from this condition, you may find it very difficult to eat due to the involuntary hand movements that occur. Occupational therapists can help educate your caregiver in how to properly care for you. Your caregiver is taught how to help you grasp a spoon and guide it properly to your mouth.

References:

American Psychiatric Association. (2001). Diagnostic and statistical manual of mental disorders (4th ed). Washington, D.C.

Genetics Home Reference. (2011). Rett Syndrome. Retrieved from ghr.nlm.nih.gov/condition/rett-syndrome

Percy, A. K. & Lane, J. B. (2005). Rett syndrome: Model of neurodevelopmental disorders. Journal of Clinical Neurology. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/16225824?dopt=Abstract

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