A positive test for the MECP2 mutation is not enough to make a diagnosis.Ruling in
Decreased or loss of use of fine motor skills
Decreased or loss of verbal speech
Abnormalities during gait
Repetitive hand movements such as wringing/squeezing or clapping/tappingRuling out
Traumatic or anoxic/hypoxic brain injury, neurometabolic disease, or severe infection that may better explain symptoms
Abnormal psychomotor development during the first six months of lifeSupportive criteria
Breathing disturbances when awake
Bruxism while awake
Impaired sleep pattern
Abnormal muscle tone
Peripheral vasomotor disturbances
Scoliosis/kyphosis
Growth retardation
Small cold hands and feet
Inappropriate laughing/screaming spells
Diminished response to pain
Intense eye communication (eye pointing)

Differential diagnosis
Signs of Rett syndrome that are similar to autism:

Signs 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 could rarely be made):

Treatment
Currently there is no cure for Rett syndrome. Treatment is directed towards improving function and addressing symptoms. A multi-disciplinary team approach is typically used to treat the person throughout life. This team may include primary care physician, physical therapist, occupational therapist, speech-language pathologist, nutritionist, and support services in academic and occupational settings. Some children may require special equipment and aids such as braces to arrest scoliosis, splints to modify hand movements, and nutritional programs to help them maintain adequate weight.Because of the increased risk of sudden cardiac death, when long QT syndrome is found on an annual screening EKG it is treated with an anti-arrhythmic such as a beta-blocker.
Because the correlation between in vitro data and clinical response has not been demonstrated, there is insufficient evidence to recommend either posaconazole or voriconazole for treatment of sporotrichosis at this time.SurgeryIn cases of bone infection and cavitary nodules in the lungs, surgery may be necessary.Heat therapyHeat creates higher tissue temperatures, which may inhibit fungus growth while the immune system counteracts the infection. The "pocket warmer" used for this purpose has the advantage of being able to maintain a constant temperature of 44 degrees-45 degrees C on the skin surface for several hours, while permitting unrestricted freedom of movement. The duration of treatment depends on the type of lesion, location, depth, and size. Generally, local application for 1-2 h per day, or in sleep time, for 5-6 weeks seems to be sufficient. Other animals
Sporotrichosis can be diagnosed in domestic and wild mammals. In veterinary medicine it is most frequently seen in cats and horses. Cats have a particularly severe form of cutaneous sporotrichosis. Infected cats may exhibit abscesses, cellulitis, or draining wounds that fail to respond to antibiotic treatment.Sporotrichosis can spread from nonhuman animals to humans (zoonosis). Infected cats in particular exude large quantities of Sporothrix organisms from their skin leasions and can spread the infection to people who handle them. Although cats are the most common animal source, the infection has also been known to spread to humans from dogs, rats, squirrels, and armadillos. See also
Mucormycosis
List of cutaneous conditions

References
External links

Sporotrichosis by Health in Plain English (with pictures)
Sporotrichosis by Centers for Disease Control and Prevention (CDC)