Rett's Disorder

Rett's disorder, also known as Rett's syndrome, is a progressive, neurological developmental disorder predominately found in females. The disorder was first discovered in1966 by an Austrian pediatrician by the name of Andreas Rett. Upon observation of two young girls in his clinic waiting room, Dr. Rett noticed "the same repetitive hand-washing motions. Curious, he compared their clinical and developmental histories and discovered they were very similar". A further look led Dr. Rett to discover a similar behavioral pattern in many of his other female patients as well, drawing him to believe they may have the same disorder. Curious to study the disorder further and find other children with the same symptoms, Dr. Andreas Rett travelled to Europe where he found records of similar findings in other young female patients. Despite Dr. Rett's publication of a brief description of Rett's syndrome in medical journals in 1977, the disorder "remained in the backwaters of medical concern". It was not until 1983, when Dr. Hagberg published an article detailing the disorder in the Annals of Neurology, that Rett's syndrome became further publicized and acknowledged for further investigation. This article successfully conveyed the specifics of the disorder to society. In the coming years, vast amounts of research and study led to the discovery of the cause of the disorder in 1999- a mutation on the X chromosome gene MECP2. (Hunter, 2008).

Like the vast majority of childhood and adolescent disorders, Rett's syndrome, too, consists of multiple variable symptoms. The symptom picture for this disorder, similar to many other diseases and disorders may fluctuate from one child to another. Surprisingly, mothers bearing girls with Rett's syndrome experience a normal pregnancy with no unusual complications in delivery. Moreover, the affected, young, female infants are also said to have normal developmental patterns in the first 6 months of life. Although "the head size is normal at birth, a subsequent deceleration of head growth occurs after 2 to 4 months of life, ultimately resulting in an acquired microcephaly." At about 5-6 months, infants with this disorder typically lose purposeful use of their hands and engage in distinct atypical hand behaviors, such as clapping, hand wringing, hand washing, and hand mouthing. Affected children may also exhibit intellectual disabilities, such as mental retardation and language impairments, as well as social withdrawal. These symptoms in turn can have a direct negative impact on the child's academic functioning and communicational skills. Furthermore, "a characteristic gait apraxia is prevalent, often curtailing or, in some cases, eliminating ambulation." (Zoghbi & Neul, 2004). Therefore, girls with Rett's disorder often also have poor gait and coordination. Some other noticeable symptoms in children with this disorder include "walking on the toes, sleep problems, a wide-based gait, teeth grinding and difficulty chewing, slowed growth, seizures, cognitive disabilities, and breathing difficulties while awake such as hyperventilation, apnea (breath holding), and air swallowing" (National Institute of Neurological Disorders and Stroke, 2011). Therefore, Rett's syndrome can lead to abnormalities across various areas of functioning including sensory, motor, cognitive, and autonomic.

Furthermore, studies indicate the existence of two variant forms of Rett's syndrome. On one hand are children at the severe end of the disorder known as congenital variants. Congenital variants of the disorder do not experience a normal development pattern in the first few years of their life. On the other hand are the milder, less severe variants known as "forme fruste or 'worn down' variants". A subset of these milder variants includes the preserved speech variants that display distinct characteristics like obesity and no apparent reduction in head size. (Zoghbi & Neul, 2004).

Believed to be existent among all ethnic groups and races worldwide, the prevalence of Rett's syndrome appears to range from about 1:10,000 to 1:22,000 (Zogbhi & Neul, 2004). Although the disorder is thought to exist among all races and ethnicities, a gender divide is present. According to Schahram Akabarian, "In boys, the disease leads, with few exceptions, to death in utero" (2002). Due to the fatality of this disorder in male fetuses, Rett's disorder is exclusively prevalent in females. Onset of this disorder can occur as early at 5 months.

Rett's syndrome is a biologically based neurodevelopmental disorder that results almost exclusively due to genetic influences. Research indicates the disorder has been caused by mutations on a specific X chromosome gene known as MECP2, responsible for the expression of other genes in normal development. "Mutations in the MECP2 gene in exons 1 to 4 or DNA deletions have now been identified in more than 90% of Rett syndrome cases" (Armstrong, 2005). Thus, the disease is caused by a deletion or mutation of the X-linked gene MECP2. According to Alyson Kerr, "currently a mutation has been identified in over 80% of people with class Rett syndrome and up to 50% with atypical (variant) Rett syndrome" (2002). Thus, although other factors may impact the development of this disorder, the main identified cause of Rett's disorder is a mutation on the MECP2 X-linked gene.

Although no psychological effect was found from this disorder, along with the biological and cognitive consequences on the child, the disorder more often than not has significant social and environmental implications. Although studies of the effects of Rett's disorder on families are rare, it can be inferred that the consequences can be plenty. Since the disorder is progressive and girls with it "are so severely incapacitated and require considerable caretaking throughout their life," it is almost inevitable that the disorder may lead to extreme amounts of distress for parents (Perry, Sario-McGarvey, and Factor, 1992).

Analogous to other widely acknowledged diseases and disorders, the course of Rett's syndrome can vary from child to child. However, the general course of developmental deterioration associated with Rett's disorder