Rett syndrome is medical condition which can be characterizedas neurodevelopmental type of disorder which affects the grey matter of thebrain. The most peculiar fact concerning this type of medical condition is thatit affects females almost exclusively. Those who suffer are usually pretty muchprone to different types of gastrointestinal disorders and in most cases thistype of medical conditions involves the occurrence of seizures. The patientssuffering from Rett syndrome usually have no verbal skills. A big issue withthis medical condition is that because it may include autism and cerebral palsyit can easily be confused with another syndrome called Angelman syndrome. Thesyndrome got its name from Andreas Rett who was an Austrian pediatrician whofirst described the syndrome back in 1966.
Development and Signs
The average development process of the Rett syndrome iscommonly quite normal during the first 18 months which involves certain earlyindicators and subtle developmental deviations. Once this initial process ofdevelopment is over it is followed by a certain regression in the developmentwhich includes decelerated head growth rare, loss of purposeful hand use andthe overall regression of the motor and language milestones. This period ofregression commonly involves certain signs and symptoms which can easily bemistaken for autism, so one should be extra careful not to mix two differentmedical conditions. The most common ones include certain sensory problems,problems with coordination and balance, loss of speech, markedly impaired useof nonverbal behaviors to regulate social interaction, general lack ofinterest, lack of emotional reciprocity, lack of social reciprocity, avoidanceof eye contact, inconsolable crying, panic attacks and screaming fits. Thereare also certain types of signs and symptoms of the Rett syndrome which may bepresent in cerebral palsy. Regression described above cannot be associated withcerebral palsy, so confusion with other medical conditions usually does notoccur. These types of symptoms may include grinding of teeth (which ismedicinally referred to as bruxism), dystonia, spasmodic movements of hand orfacial muscles (medicinally referred to as cheora), some forms of spasticity,various different types of gastrointestinal problems, abnormally small head, poor head growth(medicinally referred to as microcephaly), ataxia, movement difficulties, gait,absent ability to walk, delayed ability to walk, hypotonia, malnutritiontriggered by difficulty swallowing and short stature which may also sometimesbe accompanied by unusual body proportions. There are cases of Rett syndrome inwhich all signs may remain stable for decades, especially the ones associatedwith cognitive functions and interactions. Persons who once suffered fromasocial behavior may switch to highly social behavior. Some patients may alsodevelop slower than normal motor functions such as dystonia and rigidity. Mostcases of Rett syndrome also involves different forms of seizures characterizedby different levels of severity, depending on the individual case. Some casesof Rett syndrome may also involve scoliosis which can only be dealt with byperforming a corrective surgery.
Causes of Rett Syndrome
Rett syndrome is commonly caused by the mutations which occurin the gene known as MECP2. This gene is located on the X chromosome and thesemutations can be germline or sporadic. Some rare cases of Rett syndrome aretriggered by genetic mutations in some other genes, namely the CDKL5 and theFOXG1 genes. Some even rare cases of the Rett syndrome do not involve any genemutations at all. Germline mutations are the ones which are inherited fromnormal mothers which had a mutation in the MECP2 which is the gene encodingmethyl CpG Binding protein 2. These types of mutations occur only in less than5 percent of all cases of Rett syndrome. The biggest number of cases of Rettsyndrome are caused by sporadic mutations. These mutations are triggered by acompletely new mutation which occurs in the child for the first time everwithout being inherited from either parent. These cases of de novo mutations which occur for the first time arecommonly derived from the male copy of the X chromosome. There are also certain pontine noradrenergicdeficits which may be associated with the development of the Rett syndrome.People who suffer from this medical condition are known for havingsignificantly lower levels of norepinephrine in the brain than the generalpublic. The genetic mutations described earlier can be held responsible for thecertain changes which take place in the locus coeruleus. Such changes commonlyinclude decreased functioning of its noradrenergic innervations accompanied byhyperexcitability. There are also certain midbrain dopaminergic disturbanceswhich may be held responsible for the development of the Rett syndrome.Dysregulation of the nigro striatal pathways is causative from certain diseasesin humans and it can often be characterized by certain forms of motorimpairment such as the hypokinesia, bradykinesia and hypotonia, among others. Insome cases, such motor abnormalities worsen until the death of the patient.