Hearing Loss in Patients with Shunt-Treated Hydrocephalus.

Hearing loss is a common manifestation of the long-term complications in patients with shunt treated hydrocephalus along with motor development disturbance, cognitive and visual impairment, epilepsy and endocrine disorders. The aim of the present study was to investigate the alterations of hearing in patients with shunt treated hydrocephalus of non-tumor etiology and at least one year after implantation of ventriculo-peritoneal shunt, as well as their impact on the quality of life of patients. The study included 70 patients (age range 1.25 years - 21.25 years) with shunted non-tumor hydrocephalus and at least one year after placement of the shunt system. Hearing alterations were proved by measuring the brainstem auditory evoked potentials (BAEP) for children up to 5 years of age and children with mental retardation; audiograms was used for children older than 5 years with normal neuro-psychological development (NPD). Of the 70 studied patients 17 (24%) had hearing loss (10 bilateral and 7-unilateral) and all of them had sensorineural hearing loss, which is associated with low weight at birth, posthemorrhagic hydrocephalus and brainstem symptoms at the time of diagnosis of hydrocephalus. Hearing pathology was found more often in shunt-treated patients with NPD retardation, poor functional status and low quality of life. Children with shunt-treated hydrocephalus have hearing loss of sensorineural type. Children with brain stem symptomatology at diagnosing hydrocephalus and children with post-hemorrhagic hydrocephalus show higher risk of hearing loss. Children with shunted hydrocephalus and hearing loss show lower NPD, lower quality of life and lower functional status.

Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.

Investigation of 31 of Roma patients with congenital lactic acidosis (CLA) from Bulgaria identified homozygosity for the R446* mutation in the PDHX gene as the most common cause of the disorder in this ethnic group. It accounted for around 60% of patients in the study and over 25% of all CLA cases referred to the National Genetic Laboratory in Bulgaria. The detection of a homozygous patient from Hungary and carriers among population controls from Romania and Slovakia suggests a wide spread of the mutation in the European Roma population. The clinical phenotype of the twenty R446* homozygotes was relatively homogeneous, with lactic acidosis crisis in the first days or months of life as the most common initial presentation (15/20 patients) and delayed psychomotor development and/or seizures in infancy as the leading manifestations in a smaller group (5/20 patients). The subsequent clinical picture was dominated by impaired physical growth and a very consistent pattern of static cerebral palsy-like encephalopathy with spasticity and severe to profound mental retardation seen in over 80% of cases. Most patients had a positive family history. We propose testing for the R446* mutation in PDHX as a rapid first screening in Roma infants with metabolic acidosis. It will facilitate and accelerate diagnosis in a large proportion of cases, allow early rehabilitation to alleviate the chronic clinical course, and prevent further affected births in high-risk families.

Somatosensory evoked potentials in full-term neonates with perinatal asphyxia.

OBJECTIVE: To explore the capacity of somatosensory evoked potentials (SEP) to assess maturation processes in the development of the nervous system, and the characteristics of SEP in healthy full-term infants and full-term newborns with perinatal asphyxia and their follow up until the age of 14 months. MATERIALS AND METHODS: SEP were studied in 21 healthy full-term infants and 38 full-term newborns with perinatal asphyxia. The children with asphyxia were studied longitudinally until they were 14 months old. To assess the SEP we measured the latency of the P15, N20 and P25 components, the amplitude ratio N20/P25 and inter-peak intervals P15-N20 and N20-P25. RESULTS: The component that was most typically always found in the SEP recordings of both healthy infants and those with perinatal asphyxia was N20. The mean latency values of P15, N20 and P25 were higher in the children with perinatal asphyxia (p < 0.001). The SEP amplitude was highly variable (CoV% = 76.6%). The latencies became shorter with age in asphyxia patients aged 0 to 14 months, the shortening being the greatest in the first trimester, while they showed no statistically significant differences in infants aged 6 to 12 months. CONCLUSIONS: SEPs in the neonatal period differ considerably from those of adults and older children in the morphology and longer potential latency, which can be accounted for by the incomplete myelination of nerve fibers. The changes in SEP latency in patients with HIE stages I and II follow the same pattern found in healthy children--latency became shorter with increasing age, which was most pronounced in the first 3 months. SEP latency was found to be correlated with height and age. No differences were found in the latency of potentials between healthy infants and infants with brain hemorrhage. Recording SEP is a sensitive method to assess the CNS in children with perinatal asphyxia and to monitor the maturation of the somatosensory pathway.

Psychomotor development after ganciclovir selectively treated congenital and perinatal cytomegalovirus infection.

AIM: To study the development of children with selectively treated cytomegalovirus infection. PATIENTS AND METHODS: We studied prospectively a risk group of 12 children with cytomegalovirus infection. These children were diagnosed by serological screening in the first three months after birth and are defined as congenital and perinatal infections. Thirteen infants with no serological evidence of previous or present cytomegalovirus infection at 4-12 months of age were used as controls. Ganciclovir in a dose of 10-15 mg/kg/day for at least 2 weeks followed by 5-7.5 mg/kg/day administered intravenously for at least 2 weeks more was given to 4 children from the risk group with PCR confirmed cytomegalovirus infection: to one with suspected congenital infection that presented with encephalitis, to two children with abnormal auditory evoked potentials (AEPs) and other non-neurological symptoms of a suspected congenital infection, and to one child with proven congenital infection with systemic manifestations. There was no infant with cytomegalic inclusion disease in the study. All other children in the risk group that had clinically manifested infection received isoprinosine in a dose of 50 mg/kg for one month. RESULTS: Psychomotor development delay at age three was found in two children from the risk group and in one child in the control group. There was no difference between the two groups regarding the frequency of paroxysmal events, sensory deficiency or frequent illnesses. CONCLUSIONS: The prognosis in cases of cytomegalovirus infection diagnosed at three years of age and treated selectively can be similar to that in infection free 3-year-old children (if there are no cases of CMV inclusion disease).

Age-related changes of the somatosensory evoked potentials in healthy children.

AIM: The aim of the study was to investigate the configuration and latency of the somatosensory evoked potentials (SEPs) in healthy children for the time from the neonatal period to adolescence. MATERIAL AND METHODS: SEPs were recorded in 67 healthy children--37 boys and 30 girls from 0 to 16 years of age by means of median nerve stimulation. The active electrode was placed above the contralateral parietal cortex on places C3' and C4' and the reference electrode--on Fpz. The filters were 10-1000 Hz and the frequency of the electric stimulus--3 Hz. RESULTS: The depression of the potential in the neonatal period is accounted for by the wide base and low amplitude of SEPs. The configuration of SEPs is identical with that of adult individuals after 3 years of age. The latencies of the waves P15, N20 and P25 decrease progressively with age and lengthen in the period from 9 to 16 years of age, with the increase of height. The interpeak latencies P15 - N20, N20 - P25 and P15 - P25 decrease with age, while the amplitude N20/P25 increase with age. We found significant variability in the amplitude of the potential, most pronounced in the neonatal period. It gradually decreases by 10-14 months of age and after that remains unchanged. We did not find any differences at stimulation between the left and the right hand. CONCLUSION: The age-related changes in SEPs reflect the trends of the development and the maturation of the neural pathways and their better myelinization.