Rett Syndrome

Rett syndrome

Rett syndrome severely affects speech and movement. People with the syndrome are nearly always girls. Mutations in the gene MECP2, which is located on the X chromosome at Xq28, are a cause of Rett syndrome.

A variety of physical effectsPeople are diagnosed with Rett syndrome if they display a certain set of symptoms in their first three or four years. These include:

Period of normal early development.

Slowed head growth.

Severe impairment of expressive language.

Loss of purposeful hand use, followed by repetitive hand movements such as clapping, tapping and wringing.

Shakiness of the upper body - this may extend to the legs and arms.

Unsteady walk (if they can walk). They walk with stiff legs and feet wide apart.

Other effects of Rett syndromeOther effects of Rett syndrome that may be present but are not necessary for diagnosis include:

Breath holding, hyperventilation and air swallowing

Spinal curvature, rigid (inflexible) muscles and contracted joints

Seizures (fits)

Bluish-red feet and legs because of poor circulation

Teeth grinding and difficulty swallowing.

Four stages of Rett syndromeRett syndrome progresses through four stages. These are:

Early onset (between six to 18 months).

Rapid destructive phase - this occurs between the age of one and four years.

Plateau stage - the symptoms get no worse or their intensity lessens. This stage can last for years.

Late motor deterioration (loss of movement) - this starts between five and 25 years of age and can last for decades.

How to help a child with Rett syndromeTherapiesTherapy can help slow the progress of movement loss. Therapy includes:

Physiotherapy to prevent deformities of the joints and to improve movement

Occupational therapy to improve hand use

Horseback riding

Music therapy

Hydrotherapy - exercise in water.

CommunicationPeople with Rett syndrome have a keen desire to communicate. They can communicate through:

Touch

Pictures and letters

Word boards

Using eye gaze

Switch-operated voice output devices.

Education

People with Rett syndrome attend all types of schools. They need:

Early exposure to toys and music

Age-appropriate activities

A school environment that provides strong motivation.

Where to get help

Rett Syndrome Association of Australia Inc. Tel.

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In Australia, Rett syndrome affects about 1 in 15,000 females aged 5 to18 years

Development is usually normal until the age of 6 to 18 months

It is hard to know how much a person with Rett syndrome understands or how intelligent they are because of their communication problems

Rett syndrome wasn't recognised until 1983.

Rett syndrome

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Jump to: navigation, searchRett syndromeClassification & external resources

ICD-10F

HYPERLINK "http://www.who.int/classifications/apps/icd/icd10online/?gf80.htm+f842" \o "http://www.who.int/classifications/apps/icd/icd10online/?gf80.htm+f842" 84.2

ICD-9330.8

OMIM312750

DiseasesDB29908

eMedicinemed/3202

MeSHC10.574.500.775

Rett syndrome is a neurodevelopmental disorder that is classified as a pervasive developmental disorder by the DSM-IV. Many [1] argue that this is a mis-classification just as it would be to include such disorders as fragile X syndrome, tuberous sclerosis, or Down syndrome where one can see autistic features. The symptoms of this disorder are most easily confused with those of Angelman syndrome and autism. The clinical features include a deceleration of the rate of head growth (including microcephaly in some) and small hands and feet. Stereotypic, repetitive hand movements such as mouthing or wringing are also noted. Symptoms of the disease include cognitive impairment and problems with socialization, the latter during the regression period. Socialization typically improves by the time they enter school. Girls with Rett syndrome are very prone to gastrointestinal disorders and up to 80% have seizures [2]. They typically have few or no verbal skills, and about 50% of females are not ambulatory. Scoliosis, growth failure, and constipation are very common and can be problematic.

Contents

[hide] 1 Cause 2 Gender and Rett syndrome 3 Development and symptoms 4 Treatment and prognosis 5 Mortality 6 See also 7 Notes 8 References 9 External links

[edit] CauseRett syndrome (symbolized RTT) is X-linked dominant, affecting almost exclusively girls. Development is typically normal until 6-18 months, when language and motor milestones regress, purposeful hand use is lost and acquired deceleration in the rate of head growth (resulting in microcephaly in some) is seen. Hand stereotypies are typical and breathing irregularities such as hyperventilation, breathholding, or sighing are seen in many. Early on, autistic-like behavior may be seen. Rett syndrome is usually caused (95% or more) by a mutation in the gene encoding methyl-CpG-binding protein-2, MECP2. MECP2 is found near the end of the long arm of the X chromosome at Xq28. An atypical form of Rett syndrome, characterized by infantile spasms or early onset epilepsy, can also be caused by a mutation to the gene encoding cyclin-dependent kinase-like 5 (CDKL5). Rett syndrome affects one in every 12,500 female live births by age 12 years.

[edit] Gender and Rett syndromeMost individuals with Rett syndrome are female. One explanation given for this was that the genetic defect that caused Rett syndrome in females caused embryonic lethality in males (that is, males with pathogenic MECP2 mutations died before they were born). While a plausible hypothesis, more recent research has contradicted this explanation. The incidence of Rett in males is unknown.[3]The severity of Rett syndrome in females can vary depending on the type and position of the MECP2 mutation and the pattern of X-chromosome inactivation. It is generally assumed that 50% of a female's cells use the maternal X chromosome while the other 50% uses the paternal X chromosome (see X-inactivation). However, if most cells in the brain activate the X chromosome with the functional MECP2 allele, the individual will have very mild Rett syndrome; likewise, if most neurons activate the X chromosome with the mutated MECP2 allele, the individual will have very severe Rett syndrome just as males with MECP2 mutations do (as they only have one X chromosome).

[edit] Development and symptomsInfants with Rett syndrome typically develop normally until they are 6-18 months old. Neurological development tends to plateau after this brief period of normal development, and is followed by regression of previously acquired skills. Psychomotor abilities rapidly decline between 1-2 years of age. Early features are similar to those of autism. It is, hence, easy to mistakenly diagnose Rett syndrome for autism.

Symptoms of Rett syndrome that are similar to autism:

screaming fits

panic attack inconsolable crying

avoidance of eye contact

lack of social/emotional reciprocity

general lack of interest

markedly impaired use of nonverbal behaviors to regulate social interaction

loss of speech

Symptoms of Rett syndrome that are also present in cerebral palsy (regression of the type seen in Rett syndrome would be unusual in cerebral palsy; this confusion should rarely be made):

possible short stature, and/or might be unusually proportioned because of difficulty walking or malnutrition due to difficulty swallowing.

hypotonia delayed or absent ability to walk

gait/movement difficulties

ataxia microcephaly in some - abnormally small head, poor head growth

some forms of spasticity chorea - spasmodic movements of hand or facial muscles

dystonia bruxism - grinding of teeth

Symptoms may stabilize for many decades, particularly for interaction and cognitive function such as making choices. Motor functions may slow as rigidity and dystonia appear. Seizures may be problematic, with a wide range of severity. Scoliosis occurs in most and requires corrective surgery in about 10%. Those who remain ambulatory tend to have less progression of scoliosis.

[edit] Treatment and prognosis

Please help improve this section by expanding it.Further information might be found on the talk page or at requests for expansion.This article has been tagged since February 2007.

Currently there is no cure for Rett syndrome, although there has been some promising results with gene therapy in mice.[4]Treatment of Rett syndrome includes:

management of gastrointestinal (reflux, constipation) and nutritional (poor weight gain) issues

prevention of seizures surveillance of scoliosis and prolonged QT syndrome

increasing the patient's communication skills, especially with augmentative communication strategies

parental counseling

modifying social difficulties

behavioral interventions

Common drug therapies include:

anti-epileptic medications anti-reflux medications anti-constipation medications sleep aids SSRIs anti-psychotics (for self-harming behaviors)

beta-blockers rarely for prolonged QT syndrome[edit] MortalityMales with pathogenic MECP2 mutations usually die within first 2 years from severe encephalopathy, unless they have an extra X chromosome (often described as Klinefelter syndrome), or have somatic mosaicism.

Females can live up to 60 years or more. Lab studies on Rett syndrome may show abnormalities such as:

EEG abnormalities from 2 years of age

atypical brain glycolipids elevated CSF levels of beta-endorphins and glutamate reduction of substance P decreased levels of CSF nerve growth factors

A high proportion of deaths are abrupt, but most have no identifiable cause; in some instances death is the result most likely of:

spontaneous brainstem dysfunction

cardiac arrest seizures heart conduction problem - abnormally prolonged QT interval on ECG[edit] See also

Pervasive Developmental Disorders Portal

[edit] Notes1. ^ "Is Rett Syndrome a Subtype of Pervasive Developmental Disorders" Tsai, L.Y., Journal of Autism and Developmental Disorders

2. ^ "Predictors of Seizure Onset in Rett Syndrome" Le Jian et al. [1]3. ^ "New Study Reveals Rett Syndrome Can Strike Males" ScienceDaily [2] August 12, 2006

4. ^ "Autism-like disorder 'reversible'" [3] 8 February 2007.

[edit] References "Getting a Read on Rett Syndrome", Science 8 December 2006: Vol. 314. no. 5805, pp. 1536 - 1537

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Definition of Rett syndrome

Rett syndrome: An X-linked dominant neurological disorder that affects girls only and is one of the most common causes of mental retardation in females. Girls with the syndrome show normal development during the first 6-18 months of life followed first by a period of stagnation and then by rapid regression in motor and language skills. The hallmark of Rett syndrome is the loss of purposeful hand use and its replacement with stereotyped hand-wringing. Screaming fits and inconsolable crying are common.

Other key features include loss of speech, behavior reminiscent of autism, panic-like attacks, bruxism (grinding of teeth), rigid gait, tremors, intermittent hyperventilation, and microcephaly (small head). Seizures occur in about half of cases. The girls typically survive into adulthood, but are at risk of sudden unexplained death. Rett syndrome is due to mutation in the MECP2 gene (methyl-CpG-binding protein-2) on chromosome Xq28. The vast majority of cases are sporadic and result from a new mutation in the girl with Rett syndrome or inheritance of the mutation from a parent who has somatic or germline mosaicism with the MECP2 mutation in only some of their cells. Atypical Rett syndrome with MECP2 mutations has been found in patients previously diagnosed with autism, mild learning disability, and mental retardation with spasticity or tremor. Males with a MECP2 mutation suffer severe encephalopathy (brain disease) and die before their first birthday.

More detail: Rett syndrome is a uniform and striking, progressive neurologic developmental disorder and one of the most common causes of mental retardation in females.

After normal development up to the age of 6 to 18 months, developmental stagnation occurs followed by rapid deterioration of high brain functions. Within 1 to 2 years, this deterioration progresses to loss of speech, severe dementia, behavior reminiscent of autism, stereotypic hand-wringing movements, loss of purposeful use of the hands, jerky ataxia (wobbliness) of the trunk, intermittent hyperventilation, and microcephaly (small head).

Thereafter, a period of apparent stability lasts for decades. But additional neurologic abnormalities intervene insidiously These abnormalities include what is called spastic paraparesis (paralysis and spasticity of the legs) and epilepsy (seizures). A striking deceleration of growth has been found across all measurements in most girls with Rett syndrome who end up with short stature and microcephaly.

The mortality (death) rate among children with Rett syndrome is increased (1.2% per year). A high proportion (26%) of the deaths are sudden and associated with a heart conduction problem, namely an abnormally prolonged QT interval on the electrocardiogram.

Rett syndrome is a most unusual disease because ONLY GIRLS have it. It is an X-linked dominant disorder that is lethal in males. Females who receive the Rett syndrome gene (symbolized RTT) have Rett syndrome. Males who receive the RTT gene apparently die before birth. The RTT gene has been found on the X chromosome in chromosome band Xq28 near the very end of the long (q) arm of the X chromosome. Rett syndrome is caused by mutation in the gene encoding methyl-CpG-binding protein-2 (MECP2).

The syndrome that bears his name was first described by Andreas Rett, an Austrian pediatrician, in 1966. The frequency of Rett syndrome -- about 1 in 10-20,000 girls -- appears similar in southwest Sweden, North Dakota, and metropolitan Tokyo

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