Rett's Syndrome

Rett syndrome was listed among the autism spectrum disorders in DSM-IV; since DSM-5 (2013) it is diagnosed as a separate genetic disorder. What sets it apart is that it is diagnosed almost exclusively in females.

Its first symptoms may appear in a child as young as six to eighteen months of age. The disorder slowly progresses until the teenage years. Diagnosed children have normal development during the first early months of life until symptoms of the disorder appear. The symptoms usually noticed first are floppy hands and legs, incessant crying, and the obvious disappearance of previously acquired skills. If she was able to speak a few words or walk several steps before the onset of symptoms, a child with Rett Syndrome will gradually lose skills she has gained and in time she may lose the ability to speak and walk completely. She will develop stereotyped behavior such as wringing, clapping, or patting of hands.

The progression of Rett Syndrome varies from one child to another. As some will lose their ability to walk, others that are still able will display a stiff-leg walk. The following symptoms can appear anywhere between six months and three years of age:

•     Will lose previously learned words.
•     The appearance of floppy hands and legs, which is normally the first sign.
•     Loss of the use of fingers such as grasping, touching, or reaching for something.
•     Will lose the sense of balance and in many cases, even the ability to walk.
•     Will exhibit social problems.
•     Regression of intellectual abilities.
•     Breathing problems and even apnea while awake.
•     Parkinson-like tremors.
•     Problems with chewing and swallowing.
•     Display of stereotype behaviors.

There are other symptoms that also present in children diagnosed with Rett Syndrome. Although these are not enough to classify a person in this particular disorder:

•     Scoliosis is present in 80% of females diagnosed with Rett Syndrome.
•     Constipation and other gastroesophageal reflux or GERD.
•     Abnormal heartbeat.
•     Disrupted sleeping patterns. Sleep at night is inconsistent and sleep in the daytime is increased.
•     Poor circulation causes bluish arms and legs.
•     Small head size compared with the rest of the body (microcephaly)

Cause of Rett Syndrome

Another distinctive characteristic of Rett Syndrome is that it has a known cause: a mutation in a gene on the X chromosome called MECP2, which contains instructions for making MeCP2, a protein crucial for proper brain development.   Girls have two X Chromosomes, so the undamaged chromosome still produces MeCP2 but in insufficient amounts for proper development. Boys are almost never diagnosed because they have only one X chromosome, so there is no second copy of the gene to make up for the mutation.  Nearly all boys born with the mutation miscarry, die at birth, or die in infancy.  If a male survives infancy it is usually because he has Klinefelter syndrome (also called XXY Syndrome), and has an extra X chromosome which mitigates the mutation and allows some MeCP2 to be produced.

In more than 99% of cases the MECP2 change is new in the child and was not passed down. Very rarely, a mother carries it with no symptoms or mild ones, so doctors may offer the family genetic counseling.  Parents can never blame themselves for having a child with Rett Syndrome.

Types of Rett Syndrome

Doctors diagnose either typical (classic) Rett syndrome or atypical Rett syndrome, when some but not all of the main criteria are met. Atypical forms include an early-seizure variant, a congenital variant and a milder preserved-speech variant (Neul et al., 2010).

Treatments

There are several treatments that help in easing the other underlying conditions associated with Rett Syndrome such as medications for GERD and seizures. There are therapies that will help with Scoliosis or prevent the hand from contracting. There is no cure. In 2023 the FDA approved trofinetide (Daybue), the first medicine for Rett syndrome, for patients aged 2 and older.

When a child is diagnosed with Rett Syndrome, the family has a lot to learn. Special Learning has a wide selection of resources that will help in easing the family with the difficulty of dealing with a diagnosed loved one. Parents or providers need to be fully informed about the disorder as it is a complex condition.

The average life expectancy of a person with Rett Syndrome reaches the 40s and beyond for many. Earlier death can be attributed to seizures, pneumonia, malnutrition, and accidents.

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