Outcome of infants with inflicted traumatic brain injury (shaken baby syndrome) in Estonia.

UNLABELLED: This is a population-based prospective study to identify the long-term outcome of children with inflicted traumatic brain injury (ITBI). Twenty-two survivors were identified and followed up. Only 2 of 22 had no developmental problems at follow-up, 20 of 22 children were having different developmental problems, among them 3 of 22 were severely handicapped. Psychological tests passed 17 of 22, 5 did not pass due to severe handicap (3 children) or were too young (2 patients). Epilepsy was found in 7 of 22, being intractable in 3 cases. Serious motor problems were identified in 5 of 22. Ophthalmologic problems were found in 4 of 22. The most important predictor of adverse outcome was young age at the time of the insult. CONCLUSION: the outcome of these potentially healthy children is poor. The key question is prevention. Health care professionals should be more concerned about these problems.

Descriptive epidemiology of spinal muscular atrophy type I in Estonia.

Spinal muscular atrophy is the second most frequent autosomal-recessive disorder in Europeans. There are no published epidemiological data on SMA in Estonia and other Baltic countries. The aim of this study was to estimate the incidence of SMA I in Estonia. All patients with SMA I diagnosed between January 1994 and December 2003 were included in the study. The diagnosis was established on the basis of neurological evaluation, ENMG findings, molecular studies and muscle biopsy. PCR and restriction enzyme analysis was used to detect the homozygous deletion of the SMN1 gene. A total of 9 cases of SMA I were identified during this 10-year period. The incidence of SMA I in Estonia is 1 in 14,400 live births, which is similar to the result from Hungary but lower than average incidence in the world. Only one of the patients was female. Typical SMN1 gene deletion was found in all cases.