Rett syndrome

Bruxism

Teeth grinding (bruxism) is a frequent feature of Rett syndrome, often happening during waking hours. It is part of the movement and behavioral pattern of the condition rather than a dental problem on its own.

Stereotypical hand wringing

Purposeful hand use is replaced by near-constant repetitive hand movements, classically hand-wringing or hand-washing motions. The loss of skilled hand use together with these stereotyped movements is one of the most recognisable signs.

Seizure

Seizures (epilepsy) are very common in Rett syndrome, affecting the large majority of individuals over time. They can take several forms and sometimes need more than one medication to control, so seizure activity is followed closely.

Developmental regression

The hallmark of Rett syndrome is regression: after an early period of normal development, the child loses skills she had already gained, usually between 6 and 18 months of age. This loss of previously acquired abilities is what most distinguishes it from conditions present from birth.

Limb apraxia

A hallmark of Rett syndrome is losing the ability to use the hands on purpose. After a period of normal early development, girls lose acquired skills like grasping and pointing, and purposeful hand use is replaced by repetitive hand movements.

Motor stereotypy

Stereotypic hand movements are among the core features of rett syndrome.

Gait disturbance

Walking is affected: some girls walk with an unsteady, wide-based gait, and some lose the ability to walk over time. Physiotherapy and supportive equipment help maintain mobility.

Progressive language deterioration

Impaired language development is one of the characteristic features of rett syndrome.

Absent speech

Spoken language is lost or never fully develops. Many girls keep ways of communicating, for example through eye gaze, and communication aids and eye-tracking devices can help a great deal.

Inability to walk

Difficulty with walking, described as gait dysfunction, is one of the characteristic features of rett syndrome.

Global developmental delay

In rett syndrome, a brief period of seemingly normal early development is followed by a rapid loss of skills, when motor and communication abilities that had been gained begin to slip away.

EEG abnormality

Epilepsy is one of the most well-described features of rett syndrome and is common, with reported estimates affecting as many as 50% to 90% of people with the condition.

Failure to thrive

The endocrine (hormone) system is often involved in rett syndrome, and this can include weight abnormalities.

Growth delay

The endocrine (hormone) system is often involved in rett syndrome, and this can include disorders of growth.

Abnormal pattern of respiration

Irregular breathing while awake, such as breath-holding or rapid overbreathing, is common and characteristic. It typically settles during sleep and, while it can be alarming to watch, is usually not dangerous; the care team can advise on monitoring.

Abnormal muscle tone

Problems with muscle tone are among the difficulties reported in people with rett syndrome who carry a MECP2 mutation.

Progressive microcephaly

Head growth slows after birth, so the head becomes relatively small over the first years (acquired microcephaly). Because the head was a normal size at birth, this deceleration of head growth is an early clue.

Scoliosis

Curvature of the spine (scoliosis) is a common complication of Rett syndrome, developing as girls grow and muscle control changes. It is monitored regularly through childhood and adolescence because it can progress and sometimes needs bracing or surgery.

trofinetide

Trofinetide is a recently developed medicine for Rett syndrome, the first drug developed specifically for the condition. It does not cure it, but in studies it produced modest improvements in some symptoms. Whether it is suitable is decided with the specialist team, weighing possible benefit against side effects such as diarrhoea. Most care otherwise remains supportive: managing seizures, feeding, movement, breathing, and communication.

Used to help with: Rett syndrome.