Clinical condition of patients with neural tube defects

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.