Research findings on vocabulary development (1) in children with Down syndrome are inconsistent. This study aimed to analyse the developmental trend of vocabulary growth in children with Down syndrome and the relationships between vocabulary and chronological and developmental age. Children's vocabulary size was assessed by a parental report (the Italian version of the MacArthur-Bates Communicative Development Inventories [CDI]). A longitudinal study, involving 18 children with Down syndrome, and a cross-sectional study, involving 27 children with Down syndrome, were conducted. The variability in children's vocabulary size increased from a chronological age of 36 months. Both vocabulary size (from 36 months) and developmental level (from 42 months) were significant predictors of lexical outcomes at 48 months. A comparison with normative data showed that children with Down syndrome had a significantly lower vocabulary size than typically developing children at the same developmental age. Although there are similarities with vocabulary growth in typically developing children, lexical development in children with Down syndrome appears to lag behind their cognitive development.

Although children with Down's syndrome show some delays in each area of language development, their morphosyntactic competence appears to be more severely compromised than their lexical skills and, therefore, they are frequently mentioned as an example of dissociation between grammar and lexicon. The principal aim of the present study was to compare the lexical and syntactic development of Italian children with Down's syndrome with that of typically developing children, considering their spontaneous production. Particular attention was given to the relationships between these linguistic areas and the transition from single-word utterances to multiword combinations (that is, transitional forms). Twenty-four children participated in the study: twelve with Down's syndrome and twelve typically developing children. On average, the children with Down's syndrome participating in the study had a vocabulary size of about 450 words; and their mean chronological age was 54 months, whereas their mean developmental age was 30 months. The criteria for inclusion in the typically developing children group were a mean vocabulary size similar to that of the participants with Down's syndrome and a mean chronological age equivalent to the mean developmental age of the children with Down's syndrome. Each child's spontaneous verbal production was assessed during a parent-child play session. Data analyses focused on both lexical variables (type and tokens, vocabulary composition) and syntactic variables (frequency and types of transitional forms, frequency of utterances with different degree of complexity, and argument structure of verbs). The vocabulary composition of the children with Down's syndrome appeared to be simpler than that of the typically developing children at the same lexical size. Children with Down's syndrome used a higher number of transitional forms, but their production of multi-word utterances was less frequent; they were able to use word combinations, but they produced a low number of morphologically complete sentences. In addition, a significant relationship emerged between the development of the lexicon and the production of multi-word utterances. Children with Down's syndrome seem to have greater difficulties in expressing sentences in a grammatically correct form, though they are able to combine words. The theoretical relevance of the study lies in the fact that individuating a significant relationship between lexical and syntactic skills supports the hypothesis of interdependence between these two language domains; the practical relevance of the results lies in the fact that intervening on lexical abilities could have a beneficial effect on syntactic skills.

Background: Children with Down's syndrome seem to show a preference for the use of gestural rather than vocal productions during the first stages of language development. This ‘gestural advantage’ could actually be due to a developmental strategy used to compensate the difficulties in verbal production that are typical of language development in this population. Aims: The principal aim of the present study is to analyse the relationships between gesture production and vocabulary development in children with Down's syndrome, verifying the existence of any similarities with the processes that characterize typical development. Methods & Procedures: Twenty 36‐month‐old Italian children with Down's syndrome participated in the study. Each child's spontaneous gestural and vocal production was assessed during a mother‐and‐child play session. Their psychomotor development was evaluated using the Brunet–Lézine Scale of Infant Development; and their vocabulary size, with regards both production and comprehension, was assessed using the Italian version of the MacArthur Communicative Development Inventory (CDI). Following a longitudinal perspective, parents were requested to complete the inventory at 6 months after the first evaluation (i.e., at 42 months). Data analyses focused both on the concurrent relations of gesture production, vocabulary size and psychomotor development, and on the longitudinal relations between gesture production and subsequent vocabulary development. Outcomes & Results: As regards concurrent relationships, gesture production appeared to be related both to psychomotor development and to word comprehension, but not to word production. Nevertheless, as regards longitudinal relationships, gesture production at 36 months was significantly correlated to the subsequent vocabulary production, assessed at 42 months using the MacArthur Communicative Development Inventory (CDI), though this relationship appeared to be mediated by word comprehension. Conclusions & Implications: Two processes in the gesture production of children with Down's syndrome appear to be similar to those previously identified in typically developing children: (1) the role of gestures as a ‘bridge’ between word comprehension and word production; and (2) the predictive role of gestures, in association with comprehension, on vocabulary development.

Ring chromosome 14 syndrome is a rare chromosomal disorder characterized by early onset refractory epilepsy, intellectual disability, autism spectrum disorder and a number of diverse health issues. The aim of this work is to provide recommendations for the diagnosis and management of persons affected by ring chromosome 14 syndrome based on evidence from literature and experience of health professionals from different medical backgrounds who have followed for several years subjects affected by ring chromosome 14 syndrome. The literature search was performed in 2016. Original papers, meta-analyses, reviews, books and guidelines were reviewed and final recommendations were reached by consensus. Conventional cytogenetics is the primary tool to identify a ring chromosome. Children with a terminal deletion of chromosome 14q ascertained by molecular karyotyping (CGH/SNP array) should be tested secondarily by conventional cytogenetics for the presence of a ring chromosome. Early diagnosis should be pursued in order to provide medical and social assistance by a multidisciplinary team. Clinical investigations, including neurophysiology for epilepsy, should be performed at the diagnosis and within the follow-up. Following the diagnosis, patients and relatives/caregivers should receive regular care for health and social issues. Epilepsy should be treated from the onset with anticonvulsive therapy. Likewise, feeding difficulties should be treated according to need. Nutritional assessment is recommended for all patients and nutritional support for malnourishment can include gastrostomy feeding in selected cases. Presence of autistic traits should be carefully evaluated. Many patients with ring chromosome 14 syndrome are nonverbal and thus maintaining their ability to communicate is always essential; every effort should be made to preserve their autonomy.