Rett syndrome (RS) is a pervasive neurodevelopmental disorder that affects almost solely females. It is marked by a period of apparently normal development for 6-18 months, followed by rapid physical and mental deterioration. The discovery in 1999 of the X-linked methyl-CpG-binding protein 2 gene (MeCP2) mutation confirmed RS’s long-inferred genetic basis.
A rare, pervasive developmental disorder in children. An affected child’s head is of normal circumference at birth, followed by a gradual slowing of head growth. Rett syndrome occurs in four stages. In stage one, children appear to develop normally for their first 6 to i8 months. Development slows and eventually comes to a halt in stage two. In stage three (between 9 months and 3 years), the child begins to lose previously acquired speech and motor skills. There may also be a loss of interest in social activities. Stage four sees a gradual return of learning, but at a slower rate. Most children with Rett syndrome are mentally retarded and may have problems with coordination and walking. Treatment options are limited. Most people with Rett syndrome will need some degree of custodial care.
A very rare childhood disorder that is potentially fatal to children under 18; it is strongly associated with taking aspirin, but the exact cause remains unknown. In Reye syndrome, a child’s brain and liver swell, following a viral infection (such as influenza or chickenpox) or an upper respiratory tract infection. A third of cases occur in children who have chickenpox. To avoid risk, children under 18 should be treated for fever with ibuprofen or acetaminophen instead of aspirin.
A multiple-deficit X-linked developmental disorder marked by mental retardation, impaired language use, breath holding and hyperventilation, seizures, loss of communication skills, tremors of the trunk, difficulties walking, and abnormally small development of the head, among other clinical findings. It occurs almost exclusively in girls, after the age of 6 to 18 months, in about one of every 10,000 to 15,000 female children.
A neurological condition, believed to stem from genetics, which exclusively impacts girls. Typically, symptoms manifest during the child’s early toddler years, typically around 12 to 18 months old. Attained abilities like walking and communication regress, and the girl experiences gradual impairment, occasionally exhibiting indications of autism. Distinctive traits of the condition include repetitive contorting movements of the hands and limbs, along with inappropriate episodes of crying or laughter.
Rett’s syndrome lacks a cure, necessitating continuous care and vigilant attention for those afflicted. If parents are considering having another child and their current child is affected by the syndrome, they should seek genetic counseling.