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Congenital Cytomegalovirus Conference - Congenital CMV ...

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Background: <strong>Cytomegalovirus</strong> (<strong>CMV</strong>), a common congenital infection is present in 0.5-2% of all newborns.<br />

Irrespective of the presence or absence of symptoms in the newborn period, children with congenital <strong>CMV</strong> infection<br />

have a significant risk to develop later sequelae most commonly sensorineural hearing loss (SNHL). The diagnosis<br />

of congenital <strong>CMV</strong> beyond the neonatal period is challenging insofar as definitive diagnosis can only be made<br />

by demonstrating the virus in samples obtained in the first 3 weeks of life. Novel molecular techniques and the<br />

availability of newborn blood spots (NBS) have created the opportunity for retrospective diagnosis.<br />

Objectives: To test the hypotheses that: 1) <strong>Congenital</strong> <strong>CMV</strong> infection can be retrospectively diagnosed by molecular<br />

analysis of DNA extracted from archived NBS. 2) That the prevalence of congenital <strong>CMV</strong> infection in children with<br />

SNHL is significantly higher than the background rate of 0.5-2%.<br />

Design/Methods: The cohort consisted of children with SNHL referred to the University of Minnesota. Based<br />

on evaluation by a geneticist and an otolaryngologist patients were further divided into those with or without a<br />

genetic cause. Following IRB approval and with parental consent, NBS of enrolled children were retrieved from the<br />

Minnesota Department of Health (MDH) and analyzed for <strong>CMV</strong> genome by real-time PCR.<br />

Results: Twenty nine children with hearing impairment have been enrolled, from which 11 had a genetic etiology<br />

for their SNHL (37%). The NBS of all subjects have been retrieved from the MDH for PCR analysis. Nine of the 29<br />

enrolled children were diagnosed with congenital <strong>CMV</strong> infection (30%). <strong>CMV</strong> genome was found in 8 out of the 19<br />

children who had no identifiable or suspected genetic etiology (42%), while one child with congenital <strong>CMV</strong> infection<br />

was also diagnosed with long QT syndrome.<br />

Conclusions: <strong>Congenital</strong> <strong>CMV</strong> infection can be diagnosed retrospectively using archived NBS. Our study shows<br />

that congenital <strong>CMV</strong> infection is found in one in four children with SNHL referred to a university-based clinic.<br />

Furthermore, we found that 42% of children with SNHL without a genetic etiology were born with <strong>CMV</strong> infection<br />

demonstrating that this infection is a leading cause for acquired childhood hearing deficit.<br />

P-37 Physical and intellectual development in children with <strong>CMV</strong> asymptomatic congenital infection.<br />

Xinwen Zhang, Fen Li. MCH faculty of Medical College of XJTU, Xi’an, China.<br />

Background: Although about 90% of congenital cytomegalovirus (<strong>CMV</strong>) infection is asymptomatic in newborn, some<br />

of them could show sequelae later in life. Qinba mountain area is a place with high incidence of mental retardation<br />

and a high rate of <strong>CMV</strong> intrauterine transmission in China. The correlation between asymptomatic congenital <strong>CMV</strong><br />

infection and developmental outcomes of children in this area remain unclear.<br />

Objectives: To investigate the impact of asymptomatic congenital <strong>CMV</strong> infection on physical and intellectual<br />

development of children during the first 6 years of life in Qinba mountain area.<br />

Methods: Longitudinal cohort study. 49 of all the 54 children with asymptomatic congenital <strong>CMV</strong> infection, who<br />

were born in Qinba mountain area during the 4-year period from January 1997 to December 2000,were followed<br />

prospectively in a study for surveying physical growth and intellectual developments. Head circumference, length<br />

and weight were used to assess physical growth. Gesell Developmental Schedule was used to assess the development<br />

quotient (DQ) of the infants between 18 to 36 months. The intelligence quotients (IQ) of the preschool children<br />

between 48 to 72 months were tested with WPPSI.<br />

Results: Either in neonatal or in infant period, no significant difference was noted between the asymptomatic<br />

congenital <strong>CMV</strong> infection children and the controls in average weight, height and head circumference (both p >0.05).<br />

The intellectual development was disproportion in asymptomatic congenital infected children. Compared with the<br />

control group, both global DQ and full-scale IQ scores of asymptomatically infected children were worse (t =2.19, p<br />

=0.031; t =2.48, p =0.015), especially on language DQ scores (t =3.25, p =0.002) and verbal IQ scores (t =3.88, p =0.000).<br />

However, the incidence rates of mental retardation (DQ/IQ 0.05).<br />

Conclusions: Although asymptomatic congenital <strong>CMV</strong> infection did not have significant influence on the neonatal<br />

physical development or incidence of mental retardation later in life, it is obviously an important factor correlating<br />

with long-time cognitive outcomes, especially on the development of language. It is necessary to survey <strong>CMV</strong><br />

congenital infection and monitor the early intellectual development of children with asymptomatic congenital <strong>CMV</strong><br />

infection in this area.<br />

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