[Epidemiology of neural tube defects]. / Epidemiológia defektov neurálnej rúry.

INTRODUCTION: Neural tube defects represent group of congenital diseases with relatively high incidence in population. Authors assess world and Slovak literature and statistical facts about the epidemiology of NTD and compare them with their own results of retrospective study performed in Children's Hospital, Bratislava. MATERIALS AND METHODS: List of patients consists of 250 children (106 boys, 144 girls): X-ray images showing lumbo-sacral part of vertebral column were evaluated retrospectively (X-ray of native abdomen, urological tract or skeleton). Authors assessed presence or non-presence of spina bifida on images, without relation to age, gender or diagnosis of patients. RESULTS: From the total number of 250 radiograms, 72 findings were positive (36 boys and 36 girls), 160 images were negative, 18 were unsuitable for evaluation due to low image quality. The highest diagnostic capture was from urological images - 40% of all positive findings. Incidence of spina bifida in Children's Hospital concluded from X-ray images is quite high - 28.8%. CONCLUSION: According to the data from National Centre of Health Statistics the incidence of open caudal neural tube defects in Slovakia is under 5 per 10 000 live-born children at present time. However the occurrence of occult spina bifida is not known exactly. The high rate of spina bifida presented herein (28%) can be caused by relatively low number of evaluated radiograms. Also the fact that children were not only healthy ones and data were obtained from the western part of Slovakia as well. In conclusion we can say that after accidental finding of caudal neural tube defect consecutive diagnostics should be performed in clinical positive cases - genetics, MRI and consultation with specialists to decide for the optimal follow up of the patient.

[Clinical condition of patients with neural tube defects]. / Klinický stav pacientov s defektami neurálnej rúry.

INTRODUCTION: Neural tube defects are the most common congenital anomalies of central nervous system. Their onset is at the embryonic age of 21 to 28 days. Periconceptional administration of folic acid may reduce the occurrence of neural tube defects up to 70%. Clinical features depend on localization of the defect and malformation of central nervous system, as well as on intensive multidisciplinary care in early stages of development. Open defects (meningomyelocele) present with more severe neurological deficiency early after birth. Closed defect manifestation occurs usually later in life with tethered cord syndrome. PURPOSE: This study evaluates clinical status of the patients with neural tube defects, who are followed in the Children's Faculty Hospital in Bratislava. METHODS: Cross-sectional and also retrospective study was conducted by questionnaire that was given to mothers of children with neural tube defect. Data about perinatal and family history, occurrence of hydrocephalus, scoliosis, joint deformities, dysfunction of urinary system and bowel, as well as social care, were collected. Clinical features were statistically evaluated depending on beginning of the defect or locomotion status. RESULTS: 94 patients with mean age of 12.7 years +/- 6.59 SD were included in the study. Patients with open defects had more severe neurological deficiency with hydrocephalus, more common epilepsy, skeleton deformities, wheelchair-dependency, and dysfunction of urinary tract and bowel. Scoliosis and ability of locomotion significantly correlated with higher lever of defect, while hydrocephalus, continence, urinary infections, clean intermittent catheterization, constipation, scoliosis and joint deformities significantly correlated with the ability of locomotion (p < 0.05). CONCLUSION: For patients with neural tube defects, the level of neurological deficiency is the most important prognostic factor for many other clinical characteristics.