HHV-6 infection of tonsils and adenoids in children with hypertrophy and upper airway recurrent infections.

OBJECTIVE: Human herpes virus 6 (HHV-6), the agent of a self-limiting exanthematic disease in childhood, persists in a silent state in the secondary lymphoid organs and the reactivation is characterized by HHV-6-induced inflammatory cytokines. This study investigates the possible etiological role of HHV-6 in children affected by tonsil and adenoid hypertrophy. METHODS: 55 tonsils, 80 adenoids fresh tissues and 74 blood samples were collected from 80 children (mean age 4.8 years, 43.5% female) undergoing elective tonsillectomy and/or adenoidectomy for tissue hypertrophy. Moreover, patients with <5 years old documented upper airway recurrent infections not related to relapsing of acute tonsillitis. Specific IgG antibodies and virus detection (by PCR, variant A/B enzymatic genotyping and real-time PCR) were performed. RESULTS: In our series, HHV-6 seroprevalence was tested at 50%. HHV-6 variant B was the unique strain finding in 25% of adenoids, in 12.7% of tonsils and in 4% of peripheral blood mononuclear cells (PBMCs). HHV-6-B was prevalent in tonsils of children affected by upper airway infections (17.8% vs 7.4%) while the adenoids represented the more frequent reservoir (30.7% vs 19.5%) in patients with hypertrophy. HHV-6 viral load was low, ranging from 80 to 600 copies/10(6) cells suggesting a latent/persistent phase of infection. CONCLUSION: These results reinforce the role of the secondary lymphoid organs as an important reservoir for HHV-6B. Nevertheless, infection of lymphoid cells, sustained by a low level of replication, could be sufficient to increase the local injury through an autologous mechanism of inflammation.

Communicative and linguistic development in preterm children: a longitudinal study from 12 to 24 months.

BACKGROUND: Research conducted on preterm children's linguistic skills has provided varying pictures, and the question of whether and to what extent preterm children are delayed in early language acquisition remains largely unresolved. AIMS: To examine communicative and linguistic development during the second year in a group of Italian children born prematurely using the 'Primo Vocabolario del Bambino' (PVB), the Italian version of the MacArthur-Bates Communicative Development Inventory. The primary goal was to compare action/gesture production, word comprehension, and word production, and the relationship between these three domains in preterm children and to normative data obtained from a large sample of Italian children born at term. A second aim was to address the longstanding debate regarding the use of chronological versus corrected gestational age in the assessment of preterm children's abilities. METHODS & PROCEDURES: Parents of twelve preterm children completed the PVB questionnaire at five age points during the children's second year, and scores were compared with those from a normative sample of full-term children and those of 59 full-term children selected as a control group from the normative sample for the PVB. OUTCOMES & RESULTS: Preterm children exhibited a delay in all three aspects of communication and language. In particular, communicative-linguistic age tended to lag approximately 3 months behind chronological age when children were between the ages of 12 and 24 months. When chronological age was used, preterm children's percentile scores for all three components of communication and language fell within the lower limits of the normal range, while scores calculated using corrected age either fell at or above the 50th percentile. CONCLUSIONS & IMPLICATIONS: Findings suggest that despite the significant biological risk engendered by premature birth, early communicative and linguistic development appears to proceed in a relatively robust fashion among preterm children, with tight relations across communicative domains as in full-term children. Employing both chronological and corrected gestational age criteria in the evaluation of preterm children's abilities may provide important information about their progress in language acquisition. This may be especially important during the initial stages of communicative and linguistic development, inasmuch as comparisons of the two sets of scores may provide clinicians with a way to distinguish children who may be at risk for language problems from those who may be expected to progress normally.

MBL expression in patients with recurrent tonsillitis.

OBJECTIVE: We evaluated mannose binding lectin (MBL) protein production and histological localization, MBL2 gene expression and genotypes distribution in patients characterized by recurrent tonsillitis, with the aim of verifying the innate immune response to the infection and inflammation occurring in the tonsils. METHODS: MBL2 exon 1 and promoter polymorphims were detected by PCR amplification and subsequent direct sequencing of the amplicons. Monoclonal antibodies to MBL were used on frozen sections of tonsils for the immunohistochemical localization of MBL protein. MBL Oligomer ELISA kit was used to quantify the level of MBL in the serum of the 30 patients with recurrent tonsillitis. Quantitative RT PCR for the evaluation of MBL2 expression of MBL high producers (HP), low producers (LP) and deficient producers (DP) was performed using the Hs00175093 gene-expression Assay on Demand. RESULTS: The distribution of the MBL2 combined genotypes was as follows: 21 HP (70%; 15 HYA/HYA, 6 HYA/LXA), 6 LP (20%; 5 HYA/0, 1 LXA/LXA) and 3 DP (10%, all 0/0). MBL levels were directly correlated to the MBL2 combined genotypes: HP patients showed higher mean MBL concentration of 4044 ng/mL, LP patients were characterized by a mean of 905 ng/mL whereas those with DP combined genotype presented extremely low levels of MBL (mean value of 74 ng/mL) (p=0.0005). Immunohistochemistry performed on tonsils sections demonstrated that MBL was widely distributed throughout the surface of the basal lamina of all the 21 HP subjects. MBL was undetectable in situ in both LP and DP patients. MBL2 expression, although at very low levels, was found for the HP group, the LP and the DP group as well. CONCLUSIONS: We confirmed the genotype-phenotype correlation of MBL2 gene exon 1 and promoter polymorphisms with the quantitative production of serum MBL, we reported a very low MBL2 expression at local level in tonsils and we determined the in situ localization of MBL in the basal lamina of the tonsils of patients who underwent to tonsillectomy. Our findings suggest an important role of MBL protein in the innate immune response of the tonsil to pathogens, as in recurrent infection and inflammation.

Detection of epidermal thickening in GJB2 carriers with epidermal US.

PURPOSE: To measure epidermal thickness by using skin ultrasonography (US) in a series of healthy control subjects and obligate carriers for the worldwide most frequent form of congenital hearing loss owing to the mutated alleles of the connexin 26 gene (GJB2). MATERIALS AND METHODS: The patent for the protocol, coupled with a new sonographic probe specifically designed to analyze epidermal thickness and a dedicated algorithm to classify individuals in groups, is pending. Institutional ethics committee approval and patient consent were obtained. After a preliminary study in 23 subjects aimed to define the best body site and instrument and protocol for US, a total of 303 individuals (237 healthy subjects, 51 carriers, and 15 homozygotes) were tested at midline forehead by using a linear large-band probe with a frequency ranging from 6 to 15 MHz to determine epidermal thickness. Variance and linear regression analyses were performed. Regression coefficients were then used to obtain measurements of thickness corrected for age and sex. RESULTS: GJB2 obligate carriers had a significant increase in epidermal thickness compared with control subjects. GJB2 status explains about 50.0% of this variability, whereas an additional 25.0% is explained by sex and age. Results led to the development of a possible screening protocol with a 98.0% sensitivity and 92.8% specificity in subjects aged 2080 years, with a likelihood ratio of a positive test of 14:1. Even better results (100% sensitivity and 98.9% specificity) were obtained in an analysis of people of only reproductive age. CONCLUSION: Epidermal thickening in the white population owing to GJB2 carrier status can be detected by using US. This measurement could provide a simple, noninvasive, rapid, and sensitive test for carrier screening.

Assertive and responsive conversational skills of Italian-speaking late talkers.

BACKGROUND: Previous research on the pragmatic abilities of late talkers at 24 months of age indicates that they have difficulties initiating conversational interactions, but possess intact responsiveness skills. This study uses a parent-administered questionnaire for evaluating the conversational skills of late talkers and suggesting pragmatic intervention goals. AIM: To examine the conversational assertiveness and responsiveness of late talkers at 2 years of age. METHODS & PROCEDURES: A parent report measure, The Social Conversational Skills Rating Scale-Italian version, was administered to 30 parents of late talkers, 30 parents of typically developing children matched for age, and 30 parents of younger, typically developing children matched for vocabulary size. OUTCOMES & RESULTS: The late talkers received significantly lower ratings for both assertiveness and responsiveness in comparison with their age-matched peers. They did not differ significantly from the younger, vocabulary-matched group. Assertiveness and responsiveness mean ratings were positively correlated with vocabulary size for the age-matched group, but not for either of the other two groups. CONCLUSIONS: This study confirms a delay in the development of late talkers' social-conversational skills. An investigation of individual profiles suggests that some late talkers may require goals for vocabulary development as well as independent goals for developing pragmatic skills.

MBL2 genetic polymorphisms in Italian children with adenotonsillar hypertrophy.

We investigated the role of the polymorphisms in the first exon of MBL2 gene in the susceptibility to recurrent tonsillitis in a selected group of Italian children and healthy controls. Significant difference has been observed in MBL2 genotype and allelic frequencies between children with recurrent tonsillitis and healthy controls matched for sex and age. Children characterized by a "low MBL" producer genotype, namely 00, are more prone to recurrent tonsillitis when compared to the healthy controls. To our knowledge this is the first report on the role of MBL2 polymorphisms in adenotonsillar hypertrophy and our results shown that presence of MBL2 00 genotype could be used as a prognostic marker in subjects with adenotonsillar hypertrophy.

[INTERACT: a model of evaluation and intervention for children who are "late talkers"]. / INTERACT: un modello di valutazione e intervento per bambini "parlatori tardivi".

According to criteria applied in literature toddlers were identified as late talkers if they had less than 50-word expressive vocabulary and no word combinations at 24 months of age. The intervention programmes that use the parents as the primary agents of intervention and use child-centred techniques maximise the quality of parental communication during the emerging language period of the child. INTERACT is an early highly individualised parent and child-centered clinical intervention based on the social-pragmatic theorical approach. It is developed for 24-30 months old children with emerging language. The aims of this study are: to evaluate the gains of the child's expressive language skills and the use of multiword utterances and the changes of the maternal/parental communicative style. Six male children described as late talkers and their mothers participated for six months to INTERACT program. At initial intervention children's average age was 27 months and the average of number words producted was 26. All the mothers show high levels of directiveness. At the end of intervention the expressive vocabulary of late talkers increase in number of different words reaching an average of 407 words and an average linguistic age of 31 months, the gain is fourteen months in six months. The mothers show significant changes in their communicative style, the directiveness and the asynchronous/devaluing behaviours decrease.

Mother-child interactions in Canada and Italy: linguistic responsiveness to late-talking toddlers.

The aim was to examine cross-cultural variation in linguistic responsiveness to young children in 10 English-speaking mother-child dyads and 10 Italian-speaking mother-child dyads. All 20 children were late talkers who possessed delays in expressive vocabulary development but age-appropriate cognitive and receptive language skills. Dyads were filmed in 15-minute free play contexts, which were transcribed and coded for measures of maternal linguistic input (e.g. rate, MLU, labels, expansions) and child language productivity (e.g. utterances, different words used). The results revealed that the Italian mothers used more utterances, spoke more quickly and used a more diverse vocabulary than the Canadian mothers. The Italian children mirrored their mothers and also used more utterances and a more diverse vocabulary than the Canadian children. Mothers in both groups used similar percentages of responsive labels and expansions. However, Italian mothers responded to fewer of their children's vocalizations, using a smaller percentage of imitations and interpretations than the Canadian mothers. Correlations between maternal input and children's language productivity revealed that contingent language measures (e.g. imitations, interpretations, expansions) were related to high levels of productivity in children in both cultural groups. The results support the use of language interventions based on increasing maternal responsiveness for these children at the one-word stage of language development. They also point to differences that may be culturally based. For example, Italian mothers use faster rates of interaction and appear to have higher expectations for their children's verbal participation in interaction. This is reflected in higher rates of language production from their children, even though children in both cultural groups have similar vocabulary sizes.