Rett syndrome
Rett syndrome is a rare neurodevelopmental disorder (approx 1:10,000 female births). It almost exclusively affects females but cases of males have been described.
It is likely to have a genetic basis (although most cases are sporadic). It is associated with mutations in the MECP2 gene (Xq28). Case reports indicate complete concordance in monozygotic twins.
Rett syndrome has an interesting presentation. Affected children typically have a normal period of development until 6-18 months. Thereafter children develop problems with language (loss of previously acquired speech), purposeful hand movements replaced with stereotypic movements (hand wringing movements are a classic sign), ataxia, and psychomotor retardation. Other stereotypical movements may occur such as licking or biting the fingers and tapping or slapping. Head circumference is normal at birth but growth begins to decelerate between 6-12 months resulting in microcephaly. All language skills are lost, both receptive and expressive and social skills plateau at developmental levels between 6-12 months.
Seizures are associated in 75% of those affected and abnormal EEG findings are seen in almost all affected children.
Breathing problems are also seen with episodes of hyperventilation, apnea, and breath holding.
Children may live for well over a decade after the onset of the disorder but after 10 years many patients are wheelchair bound with virtually no language ability.
Additional features include seizures, breath holding and hyperventilation, sleep difficulties and issues with locomotion.
It is likely to have a genetic basis (although most cases are sporadic). It is associated with mutations in the MECP2 gene (Xq28). Case reports indicate complete concordance in monozygotic twins.
Rett syndrome has an interesting presentation. Affected children typically have a normal period of development until 6-18 months. Thereafter children develop problems with language (loss of previously acquired speech), purposeful hand movements replaced with stereotypic movements (hand wringing movements are a classic sign), ataxia, and psychomotor retardation. Other stereotypical movements may occur such as licking or biting the fingers and tapping or slapping. Head circumference is normal at birth but growth begins to decelerate between 6-12 months resulting in microcephaly. All language skills are lost, both receptive and expressive and social skills plateau at developmental levels between 6-12 months.
Seizures are associated in 75% of those affected and abnormal EEG findings are seen in almost all affected children.
Breathing problems are also seen with episodes of hyperventilation, apnea, and breath holding.
Children may live for well over a decade after the onset of the disorder but after 10 years many patients are wheelchair bound with virtually no language ability.
Additional features include seizures, breath holding and hyperventilation, sleep difficulties and issues with locomotion.
