Table 1
Revised diagnostic criteria for classical and variant RS. Derived from tables 3 and 4 in the paper by Hagberg et al.8
| Necessary criteria | Supportive criteria | Exclusion criteria | |
|---|---|---|---|
| Classical RS | Apparently normal prenatal and perinatal history | Breathing disturbances while awake Bruxism | Organomegaly or other evidence of a storage disorder |
| Psychomotor development normal during the first 6 months (may be delayed from birth) | Impaired sleeping pattern from early infancy Abnormal muscle tone accompanied | Retinopathy, cataract, or optic atrophy History of perinatal or postnatal brain damage | |
| Normal head circumference at birth | by muscle wasting and dystonia | Identifiable inborn error of metabolism | |
| Postnatal deceleration of head growth (most individuals) | Abnormal muscle tone accompanied by muscle wasting and dystonia | or neurodegenerative disorder Acquired neurological disorder due to | |
| Loss of purposeful hand skills between 0.5–2.5 years | Peripheral vasomotor disturbances Progressive scoliosis or kyphosis | severe infection or head trauma | |
| Stereotypic hand movements | Growth retardation | ||
| Evolving social withdrawal, communication dysfunction, loss of acquired speech, cognitive impairment | Hypotrophic small and cold feet and/or hands | ||
| Impaired or deteriorating locomotion | |||
| Variant RS | At least 3 of the 6 main criteria | Breathing irregularities | |
| At least 5 of the 11 supportive criteria | Air swallowing or abdominal bloating | ||
| Main criteria | Bruxism | ||
| Absence or reduction of hand skills | Abnormal locomotion | ||
| Reduction or loss of speech (including babble) | Scoliosis or kyphosis | ||
| Hand stereotypies | Lower limb amyotrophy | ||
| Reduction or loss of communication skills | Cold, discoloured feet, usually hypotrophic | ||
| Deceleration of head growth from early childhood | Sleep disturbances, including night time screaming | ||
| Regression followed by recovery of interaction | Inexplicable episodes of laughing or screaming | ||
| Apparently diminished pain sensitivity | |||
| Intense eye contact and/or eye pointing |
