Academic journal article International Journal of Child Health and Human Development

Identifying Undiagnosed Adults with Rett Syndrome: Procedure and Clinical Implications

Academic journal article International Journal of Child Health and Human Development

Identifying Undiagnosed Adults with Rett Syndrome: Procedure and Clinical Implications

Article excerpt


Rett Syndrome (RTT) is a complex neurological disorder resulting from a genetic fault (1) that occurs mostly in females and affects them throughout their lives. The syndrome is named after an Austrian physician, Andreas Rett (1924-1997), who was the first to identify the syndrome in 1966 (2). Since the discovery of the genetic cause for RTT (3), genetic diagnosis of RTT is found positive in 95% of individuals showing the classical clinical characteristics and in 75% of individuals showing a-typical characteristics of RTT (4). Despite the high specificity and sensitivity regarding genetic diagnosis, clinicians still rely primarily on a clinical diagnosis. This is characterized by a specific developmental profde and certain clinical diagnostic criteria that rely on descriptive criteria first suggested by Professor Bengt Hagberg and Dr. Witt Engerstrom (5) and later adjusted (6,7) are as follows:

Classical RTT inclusion criteria

* Apparently normal prenatal and perinatal history

* Psychomotor development normal during the first 6 months (may be delayed from birth)

* Normal head circumference at birth

* Postnatal deceleration of head growth (most individuals)

* Loss of purposeful hand skills between 0.5-2.5 years

* Stereotypic hand movements

* Evolving social withdrawal, communication dysfunction, loss of acquired speech, cognitive impairment

* Impaired or deteriorating locomotion

The first three clinical criteria may not be applicable to severely affected females; other criteria will not apply to those who are mildly affected and are only identified due to positive findings of mutations in MECP2.

Supportive criteria

* Breathing disturbances while awake

* Bruxism

* Impaired sleeping pattem from early infancy

* Abnormal muscle tone accompanied by muscle wasting and dystonia

* Peripheral vasomotor disturbances

* Progressive scoliosis or kyphosis

* Growth retardation

* Hypotrophie small and cold feet and/or hands

Exclusion criteria

* Organomegaly or other evidence of a storage disorder

* Retinopathy, cataract, or optic atrophy

* History of perinatal or postnatal brain damage

* Identifiable inborn error of metabolism

* Neurodegenerativo disorder

* Acquired neurological disorder due to severe infection or head trauma

Due to the fact that Rett syndrome first became known to the western medical community 25 years ago with the publication of an article by Hagberg et al (8), most individuals diagnosed with RTT are usually under that age (see figure 1).

According to figure 1, many adolescents above the age 16 years and most women above the age 25 years diagnosed with RTT (with the black thin line representing the expected number of individuals with RTT for each period of 5 years in relation to population in the country around those years) are practically non-existing.

The life expectancy of individuals with RTT is unknown since the disorder is only known since 1983 (8), but estimated at around 49 years (9). Such longevity and the specific educational\therapeutic needs of individuals with RTT necessitate appropriate multi-professional intervention. Recent findings by different groups of researchers suggest that an intense intervention can improve the longevity as well as function and health in mice with RTT (10,11). Moreover, we know that appropriate support can enhance function in these individuals (12,13), suggesting that similar intervention with individuals diagnosed with this disorder will enhance the quality of life of the person with RTT and her family (14). Therefore, identifying adults with this disorder will enable enhanced intervention strategies, thereby improving their function and longevity.

Possible benefits of the present investigation

Despite the fact that adults with RTT have rarely been studied and when taking into account the many needs of adults with RTT, we speculate that clinicians should take into account the following aspects:

1. …

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