Maternal input to 24-month-old children with sex chromosome trisomies.

BACKGROUND: Maternal input plays an important role in influencing linguistic development during the first years of life, and it is evident that mothers adapt their language according to their child's characteristics. Recently, it was demonstrated that maternal input addressed to children with sex chromosome trisomies (SCTs) at 8 months of age is prosodically and functionally different from that addressed to typically developing (TD) peers. AIMS: The study aimed at analysing maternal input at 24 months when the presence of a language delay could be more evident than during the preverbal stage. We were interested in examining if maternal input was influenced by a diagnosis of SCT (by comparing children with SCT and TD children) or by children's linguistic level (by comparing children with weak lexical ability versus children with typical lexical ability regardless of the presence of genetic diagnosis). METHODS AND PROCEDURES: Forty-four mother-child dyads in which the children had an SCT and 20 mother-child dyads in which the children were TD participated in the study. Of these 64 dyads, 23 children (21 with SCTs and two TD children) formed the group of children with weak lexical ability (children with a vocabulary size lower than 50 words at 24 months). Maternal utterances were collected during one video-recorded play session and were then coded considering both the linguistic and functional features of the input. OUTCOMES AND RESULTS: The results showed that the input addressed to 24-month-old children with SCTs is as rich and complex as that addressed to TD peers. Moreover, no significant differences in the functions expressed by maternal input were found (all ps > 0.05). Comparing the children with weak lexical ability and the children with typical lexical ability in our sample, having a poor vocabulary at 24 months of age showed a significant influence on the maternal input features: the input addressed to children with weak lexical ability was characterised by a higher presence of attention getters (U = 217.00, p = 0.007) and a lower proportion of questions (U = 236.00, p = 0.017) than that of mothers of typically-talking children. CONCLUSIONS AND IMPLICATIONS: At 24 months of age, it seems that the presence of a language delay and not belonging to the clinical group of children with SCTs influences the functional characteristics of the maternal input. It is important to support the parents of children with SCTs during the communication process and later during their child's development, leading them to observe their children's manifested skills rather than looking for possible predicted difficulties. WHAT THIS PAPER ADDS: What is already known on the subject Studies in the literature demonstrated how mothers can generally adapt their input to their child's characteristics. To our knowledge, only two recent studies analysed the maternal input addressed to children with SCT at 8 months of age, highlighting significant differences. What this paper adds to existing knowledge The maternal input addressed to children with SCT at 24 months of age is not different from that addressed to TD children. At 24 months of age, the mothers adapt their input to the verbal competence shown by their child (weak lexical ability versus typically-talking), while belonging to the clinical group does not show an influence. What are the potential or actual clinical implications of this work? All the participants of the present study received prenatal diagnosis disclosure by an expert team of professionals, and they were all involved in a longitudinal study aimed at monitoring the children's development and supporting their parents. These results show that giving clear and complete information about possible development paths to parents of children with SCTs during diagnosis disclosure is crucial. Moreover, supporting the parents during the communication process and later during their child's development is fundamental, leading them to observe their children's manifested skills rather than looking for possible predicted difficulties.

Reaction to Diagnosis and Parental Concerns in Parents of Children and Young Adults With XYY Syndrome.

BACKGROUND: There is a growing interest in exploring parents' views on the benefits of early diagnosis and awareness of sex chromosome trisomies. However, only a few studies focus specifically on the experience of parents of children with XYY syndrome. The present study aimed to assess, in parents of individuals with XYY, the perceived severity of their children's condition, their level of satisfaction with the disclosure process and their concerns about their children's present and future condition. METHODS: A national online sample of 56 Italian parents of children and young adults diagnosed with XYY syndrome participated in the study. They filled out a specifically developed online survey that assessed their children's areas of concern, their experience with the disclosure process and their worries about their children's condition. RESULTS: Seventy per cent of the parents received a prenatal diagnosis, whereas 30% received a postnatal diagnosis. High individual variability was found in the parent report of their child's condition. The most frequent areas of concern were attention regulation, emotion control and behaviour control. Individuals with a postnatal diagnosis showed more severe profiles. Parents were generally dissatisfied with the disclosure process, with no differences between prenatal and postnatal disclosure. However, more than 50% of the parents who received a prenatal disclosure reported that their child's condition was less severe than they had expected. In contrast, only 11% of the parents with postnatal disclosure reported this situation. Parents' concerns were negatively related to global satisfaction with the disclosure process and the correspondence between current and expected conditions but positively associated with the child's severity level. CONCLUSIONS: The results suggest that clear and realistic information during the disclosure process to parents is needed in both prenatal and postnatal communication and may alleviate parents' concerns.

Narrative competence in Italian children with cochlear implants: a comparison with children matched by chronological or hearing age.

The present study aimed to analyse the narrative competence of a group of Italian children with a bilateral cochlear implant (CI) implanted before 30 months of age. Participants were ten children with CI (aged from 42 to 83 months) and two control groups of typically hearing children one-to-one paired by sex, non-verbal reasoning, and chronological or hearing age. A story generation task, specifically developed to assess narrative skills in children (i.e., the Narrative Competence Task) was used to evaluate both macrostructural and microstructural features of the children's narratives. Results showed that children with CI presented only one significant difference in the macrostructural aspects of narratives compared to typically hearing children matched by hearing age, specifically in the higher number of events told. In addition, concerning microstructural features, the only statistically significant difference was a lower lexical variety in the narratives produced by children with CI than in those produced by typically hearing children matched by chronological age. Both macrostructural and microstructural indices appeared to be related to the hearing age of children with CI. Early CI appeared to play a crucial role in the acquisition of a complex area of language development, as narrative competence.

Maternal input to children with sex chromosome trisomies.

BACKGROUND: Although language difficulties are one of the most distinctive characteristics of the neuropsychological profile of children with sex chromosome trisomies (SCT), the analysis of the maternal input addressed to them is a neglected topic. AIMS: The present study aims to analyse the lexical, morphosyntactic, and functional features of the input addressed to children with SCT comparing them with those of the input directed to typically developing children (TD). METHODS & PROCEDURES: Participants were 38 mothers and their 8-month-old children, 19 with SCT and 19 TD children. Maternal utterances, collected during video-recorded play sessions, have been transcribed and coded. OUTCOMES & RESULTS: No significant differences between groups have been found in the lexical and syntactic characteristics of maternal input. However, considering the input functional features, the proportion of directives and questions was significantly higher in the maternal input addressed to children with SCT than in the input addressed to TD children whereas the opposite pattern was found in the proportion of affect-salient speech. CONCLUSIONS & IMPLICATIONS: The awareness of a possible delay in their children's language development could influence the way the mothers speak to them. In particular, the functional features of maternal input could be affected. Support groups for parents of children with SCT at the preverbal stage could be useful to reassure the mothers about their role in their children's language development. What this paper adds What is already known on the subject Studies in the literature identified a high percentage of language delays or impairments in children with SCT. To date, according to our knowledge, there are no studies that analyse the linguistic input addressed to these children. What this study adds The lexical and syntactic features of maternal input addressed to 8-month-old children with SCT are adequate to the children's communicative skills. However, the mothers of children with SCT seem to provide additional scaffolding in their verbal input, using a lower proportion of affect-salient speech and a higher proportion of questions. In addition, a higher proportion of directives suggests the use of a more demanding style. Clinical implications of this study The awareness of possible language delays could influence the functional features of input leading mothers to use a more supportive and demanding input. Support groups for parents of children with SCT at the preverbal stage could be useful to reassure the mothers about their role in their children's language development.

The emergence of multiword utterances in children with Down syndrome.

Morphosyntax is one of the most impaired aspects of language development in children with Down syndrome. The present study aimed to assess the emergence of multiword utterances in this population. Sixteen Italian-speaking children with Down syndrome were followed from 36 to 48 months of age. Data derived from an analysis of their spontaneous productions showed that although the mean productivity of multiword utterances increased over the three time points (36, 42 and 48 months), different growth patterns of early syntactic development could be identified: (1) null or marginal development; (2) a gradual increase in multiword production over time; (3) an increase in the production of more complex multiword utterances and a decrease or inverted U-shaped profile in the production of simpler multiword productions; (4) an inverted U-shaped profile in multiword productions. In addition, children showed an improvement in their ability to express different semantic functions by word combinations. Significant relationships were found between early syntactic skills and both the child's vocabulary size and developmental age. A better knowledge of the acquisition pace and content of word combinations could allow more effective rehabilitative treatment during the first steps of children's syntactic development.

Vocal and gestural productions of 24-month-old children with sex chromosome trisomies.

BACKGROUND: Children with sex chromosome trisomies (SCT) frequently show problems in language development. However, a clear description of the communicative patterns of these children is still lacking. AIMS: To describe the first stages of language development in children with SCT in comparison with those in typically developing (TD) children. The purpose was to verify the existence of possible differences in communicative skills (in both vocal and gestural modality) and identify the presence of possible early predictors (i.e., low vocabulary size and low gesture production) of later language impairment in children with SCT. METHODS & PROCEDURES: Fifteen 24-month-old children with SCT (eight males with Klinefelter syndrome (KS) and seven females with triple X syndrome (TX)) and fifteen 24-month-old TD children (eight males and seven females) participated in the study. Their spontaneous communicative productions were assessed during a semi-structured play session in interaction with a parent. In addition, their vocabulary size was assessed using a parental report (the Italian version of the MacArthur Communicative Development Inventories). OUTCOMES & RESULTS: With regards to their vocabulary size, 60% of children with SCT (75% of children with KS and 43% of children with TX) were at risk for language impairments (i.e., they had a vocabulary size smaller than 50 words). In addition, TD children showed better lexical and syntactic skills than children with SCT in their spontaneous communicative productions. However, the production of communicative gestures was higher in children with SCT than in TD children. Boys with KS appeared to differ from TD males in more aspects of communication than girls with TX differed from TD females. CONCLUSIONS & IMPLICATIONS: The study showed the importance of early detection of language risk factors in children with SCT, while also considering the use of compensatory strategies (e.g., the use of communicative gestures).

Early communicative skills of children with Klinefelter syndrome.

Many studies reported the presence of language impairments in children and adolescents with Klinefelter syndrome (KS). However, the first stage of their language development has been scarcely studied. The present study aimed to describe the spontaneous communicative production of 18-month-old children with KS, in comparison with that of typically developing (TD) male peers, aiming to verify the existence of different early communicative skills in both vocal and gestural modality and to identify the presence of possible associations with their later vocabulary size. Children with KS showed a lower competence in both lexical skills and emergent syntactic abilities than TD peers. No significant differences were found in gesture production. Considering the possibility of identifying an association between early communicative skills and later vocabulary size, the vocal production of TD children appeared to be significantly related to their later lexical skills; whereas, the number of gestures produced by children with KS appeared to be related to their later lexical abilities. The early detection of language risk factors will allow early intervention and careful monitoring of these children's communicative development.

Developmental trends of communicative skills in children with chromosome 14 aberrations.

Children with chromosome 14 aberrations usually show developmental delays, intellectual disability, neurological disorders and behaviour problems. The aim of the present study is to describe the developmental trajectories of the communicative skills of children with chromosome 14 aberrations, considering the possible relationships between the patterns of language development and the children's clinical characteristics (e.g., intellectual disability or autistic traits). Longitudinal data on five children (four with linear deletions and one with ring 14 syndrome) followed for 3 years are presented. Four out of five children showed profound intellectual disability, and three out of five showed autistic traits. A high individual variability was found in both vocal and gestural productions. However, only a modest increase in the children's communicative and symbolic skills was detected over time (e.g., in the quality of preverbal productions). CONCLUSION: The increase of communicative skills in children with chromosome 14 aberration is very slow. We need to consider the children's characteristics, in terms of type of chromosome aberration, level of intellectual disability and presence/absence of autistic traits, to predict their possible linguistic outcomes and to give a more realistic expectation to their parents. What is known: • The communicative skills of children with chromosome 14 aberrations are usually impaired. • The presence of autistic traits is frequent in these children. What is new: • The increase of communicative skills in children with chromosome 14 aberrations is very slow. • The level of intellectual disability and the presence/absence of autistic traits appeared to have a role in predicting the possible linguistic outcomes in children with chromosome 14 aberrations.

Prosodic skills in children with Down syndrome and in typically developing children.

BACKGROUND: Many studies have analysed language development in children with Down syndrome to understand better the nature of their linguistic delays and the reason why these delays, particularly those in the morphosyntactic area, seem greater than their cognitive impairment. However, the prosodic characteristics of language development in children with Down syndrome have been scarcely investigated. AIMS: To analyse the prosodic skills of children with Down syndrome in the production of multi-word utterances. Data on the prosodic skills of these children were compared with data on typically developing children matched on developmental age and vocabulary size. Between-group differences and the relationships between prosodic and syntactic skills were investigated. METHODS & PROCEDURES: The participants were nine children with Down syndrome (who ranged in chronological age from 45 to 63 months and had a mean developmental age of 30 months) and 12 30-month-old typically developing children. The children in both groups had a vocabulary size of approximately 450 words. The children's spontaneous productions were recorded during observations of mother-child play sessions. OUTCOMES & RESULTS: Data analyses showed that despite their morphosyntactic difficulties, children with Down syndrome were able to master some aspects of prosody in multi-word utterances. They were able to produce single intonation multi-word utterances on the same level as typically developing children. In addition, the intonation contour of their utterances was not negatively influenced by syntactic complexity, contrary to what occurred in typically developing children, although it has to be considered that the utterances produced by children with Down syndrome were less complex than those produced by children in the control group. However, children with Down syndrome appeared to be less able than typically developing children to use intonation to express the pragmatic interrogative function. CONCLUSIONS & IMPLICATIONS: The findings are discussed considering the effects of social experience on the utterance prosodic realization.

Developing with ring 14 syndrome: a survey in different countries.

This study aimed to assess the communicative skills of children and young adults with ring 14 syndrome and linear 14q deletions, investigating the relationships among their language development and their genetic, clinical, psychomotor and behavioural characteristics. Participants were 36 individuals with chromosome 14 aberrations whose parents completed a questionnaire, specifically developed in five languages, to assess their son's/daughter's development. Data analysis showed that chronological age does not account for the high individual variability found in the participants' skills. The comparison between participants with ring 14 syndrome and participants with 14q linear deletions showed that the former were characterised by a higher occurrence of epilepsy, abnormalities of the retina and autism. The participants with smaller amounts of deleted genetic material were those who had a higher level of language development. Because ring 14 syndrome is a rare genetic disease, the collection of data from a large group of individuals could be helpful to create expectations about the possible developmental outcomes of these children.