How to Assess Oral Narrative Skills of Children and Adolescents with Intellectual Disabilities: A Systematic Review.

Children and adolescents with intellectual disabilities (ID) often encounter difficulties with narrative skills. Yet, there is a lack of research focusing on how to assess these skills in this population. This study offers an overview of the tools used for assessing oral narrative skills in children and adolescents with ID, addressing key questions about common assessment tools, their characteristics, and reported evidence. A systematic review was conducted of the literature published between 2010 and 2023 in the PsycINFO, ERIC, Education, and Psychology databases. An initial 1176 studies were reviewed by abstract, of which 485 were read in full text, leading to the selection and analysis of 22 studies. Most of the identified tools involve analyzing language samples obtained using wordless picture story books. Three common tools are emphasized. Studies have primarily identified inter-rater reliability and test-criterion evidence for validity. The main tools and their characteristics are discussed in depth to aid readers in discerning suitable options for research or practical applications. The importance of reporting diverse sources of evidence for validity and reliability within this population is highlighted.

Associations between social isolation and parenting stress during the first wave of COVID-19 in Italian children with special educational needs.

The parents of 413 children with typical development (TD) or special educational needs (SEN) filled in an online survey to investigate the associations between the restrictions introduced to face COVID-19 and parenting stress and parental disciplinary practices. The parents of children with SEN showed a significantly higher stress level than TD children's parents. However, they showed a lower inclination to overreact. In both groups, the parents who feel less supported, feel their needs threatened, and report having a child with more difficulties were more likely to exhibit parenting stress. Data on the associations between COVID-19 restrictions and the stress perceived by parents could help to focus the attention of the public health system on their parents' needs, leading to practices aimed to prevent parenting stress and burnout.

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.

The Relationship between Narrative Skills and Executive Functions across Childhood: A Systematic Review and Meta-Analysis.

Executive functions (EFs) and narrative competence (NC) are two important predictors of many outcomes in human development. To date, however, it is unclear whether these skills develop synergistically-supporting or opposing each other-or whether they are independent of each other. The purpose of this meta-analysis is to understand if these skills are related to over development and if the magnitude of their association changes over time; differs in typical and atypical development; and changes with EF (inhibition, working memory, flexibility, planning) and NC (oral, written; micro and macrostructural level). For this purpose, 30 studies containing 285 effect sizes were selected and combined. The results show that EFs and NC are weakly associated with each other (r = 0.236, p < 0.001) and that this association decreases with age (b(267) = -0.0144, p = 0.001). They are more associated in preschool and early elementary school grades, becoming more independent after seven years old. Between 3 and 7 years of age, the association seems stronger in atypically developing children and for macrostructural NC. Additionally, before 7 years old, the various EF domains seem to associate indistinctly with NC, and only later specific links between EFs and NC would be observed.

Developmental Profiles in Children and Young Adults with Alexander Disease.

PURPOSE: The study aims to describe the developmental profile of children and young adults with Alexander disease [AxD] infantile form, analyzing their clinical features, adaptive behavior and neuropsychological skills. METHODS: Participants were eight children or young adults (Mean age = 11 years; SD = 6.86; range = 5-23) and their parents. A multi-method approach was adopted to assess participant competencies: (1) an online parent survey, (2) a semi-structured interview with parents, and (3) a direct assessment of the participant's neuropsychological skills. RESULTS: Only four parents and their children completed all measures, and a common developmental profile could not be identified. The participants experienced substantial impairment in gross-motor skills, memory and narrative macrostructure. Most parents reported a regressive trend in at least one area. CONCLUSIONS: The high individual variability and the regressive trend highlight the need for an accurate and periodic assessment of each individual's developmental profile.

Speech Sound Development in 18-Month-Old Children With Sex Chromosome Trisomies.

PURPOSE: This study aimed to describe speech sound development in a group of 18-month-old children with sex chromosome trisomies (SCTs), compared with a group of typically developing (TD) peers. Concurrent and longitudinal relationships between speech sound abilities and lexical development were examined. METHOD: A group of 76 children aged 18 months, 38 children prenatally diagnosed with SCTs (12 with XXY, 12 with XYY, and 14 with XXX) and 38 TD children, participated in the study. From video recordings of semistructured naturalistic parent-child play sessions, quantitative and qualitative measures of speech sound development were collected (e.g., the number of consonants, type and place of articulation, and syllable structures used), and group differences were observed. The relationships between the number of consonants produced and vocabulary size at 18 and 24 months were assessed. RESULTS: At 18 months, children with SCTs used a significantly lower number of consonants than TD children. Qualitatively, children with SCTs used significantly fewer articulatory complex consonants (fricative/affricates) and a more restricted inventory of syllable structures. The number of consonants used was significantly correlated with lexical development at 18 months. Moreover, in the SCTs group (but not in the TD group), the children with lower speech sound development at 18 months showed a significantly smaller vocabulary growth between 18 and 24 months than those with higher speech-sound development. CONCLUSIONS: Toddlers with SCTs showed a significantly delayed speech sound development pattern rather than an atypical one. Children with SCTs with low speech sound development also showed lower vocabulary growth between 18 and 24 months of age. These results can be clinically relevant for follow-up and treatment planning for children with SCTs.

Short report. Narrative competence in Italian preschool children with sex chromosome trisomies.

BACKGROUND: The neuropsychological profile of children with sex chromosome trisomies [SCTs] is frequently characterised by delays and impairments in language development. However, no studies so far have specifically investigated their narrative competence. AIMS: The aim of the study was to analyse the oral narrative competence of preschool children with SCTs due to the importance of this skill for language development and learning abilities. METHODS AND PROCEDURES: Participants were 34 Italian children with SCTs one-to-one matched by age and sex to typically developing [TD] children. A storytelling task, the Narrative Competence Task, was used to assess the macrostructural and microstructural features of the children's narratives. OUTCOMES AND RESULTS: Children with SCTs showed significantly lower scores than TD peers in all the narrative indices considered, except for mental state lexicon and story length in words. CONCLUSIONS AND IMPLICATIONS: The problems found in narrative competence confirmed the existence of difficulties in the language development of children with SCTs. Narrative difficulties could affect these children's future learning skills and academic achievements.

Language Development in the Second Year of Life: The Case of Children with Sex Chromosome Trisomies Diagnosed before Birth.

Many individual factors, such as early communicative skills, could play a role in explaining later linguistic outcomes. The detection of predictive variables is fundamental to identifying early the children who need intervention. The present study focuses on children with sex chromosome trisomies (SCTs), genetic conditions with an increased risk of developing language delays or impairments. The aims are to analyse their communicative skills at 18 months of age, and identify significant predictors of their later vocabulary size. Participants were 76 18-month-old children (38 with SCTs, and 38 typically-developing (TD) children). Their communicative skills were assessed during a parent-child play session, and parents filled in a report on their vocabulary development at 18 and 24 months. Children with SCTs showed significantly poorer linguistic skills at 18 months in both preverbal (babbling and gestures) and verbal abilities. A high percentage (nearly 70%) of toddlers with SCTs were late-talking children at 24 months, and those toddlers showed a lower frequency of babbling utterances at 18 months. Early lexical skills, children's developmental quotient, and being part of the group of toddlers with SCTs were significant predictors of children's vocabulary size six months later. These variables should be considered when assessing the linguistic competence of a child with SCTs to detect possible early risk factors of future language impairment.

Language Development in Sex Chromosome Trisomies: Developmental Profiles at 2 and 4 Years of Age, and Predictive Measures.

PURPOSE: Describing language development in children with sex chromosome trisomies (SCT) and testing the predictive value of early language measures on later outcomes. METHOD: Thirteen children with SCT were followed longitudinally. Their developmental profile was assessed, with particular attention to language, at 2 and 4 years. The predictive value of direct (spontaneous speech analysis) and indirect (communicative development inventory) language measures at 2 on performances at 4 was tested. RESULTS: Language performances at both ages were lower than non-verbal development. At 2, more than 50% of the group produced less than 50 words. At 4, impaired performances were observed in speech sound development and expressive morpho-syntax. Direct measures of Pre-syntactic development predicted later global language outcomes and Sentence Repetition. The number of consonants used at 2 was significantly related to Nonword Repetition at 4. CONCLUSIONS: The study highlights the importance of early detection and careful follow-up for children with SCT.

Children's Behavior and Maternal Parenting Stress in Young Children With Sex Chromosome Trisomies.

OBJECTIVE: Children and adolescents with sex chromosome trisomies (SCTs) usually show a higher frequency of behavioral problems than typically developing (TD) children. However, little is known about the presence of behavioral issues in toddlers with SCT. This study aimed at investigating their behavioral profile in the second year of life and its impact on maternal stress. METHOD: Participants were 87 children ranging in age from 18 to 26 months: 63 children with SCTs (all diagnosed prenatally) and 24 TD children. Their psychomotor and language development and their behavioral profile were assessed. In addition, the level of maternal parenting stress was evaluated. RESULTS: Both psychomotor and language development were significantly lower in children with SCTs than in TD children. Conversely, no significantly greater behavioral problems emerged in children with SCTs. However, a significantly higher level of parenting stress related to a dysfunctional interaction with the child emerged in the mothers of children with SCTs. In this population, maternal stress seemed positively related to their children's emotional problems and pervasive disorders and negatively related to their children's psychomotor and linguistic competence. CONCLUSION: Although no significant behavioral issues emerged in the second year of life, the relationships found between children's behavioral profiles and maternal parenting stress highlight the importance of prenatal counseling and support groups for parents of children with SCTs. This might help them recognize the first signs of behavioral problems and become aware of their influence on parenting stress.

Narrative and prosodic skills in children and adolescents with Down syndrome and typically developing children.

PURPOSE: Children with Down Syndrome (DS) show difficulties in language development, in both basic and complex abilities, as narratives. Less is known about the prosodic competence in DS, but the few available studies highlighted the presence of some deficits. Considering the importance of narratives and prosody in communication, the main aim of this study is to investigate these two competencies in participants with DS. METHOD: 13 children with DS participated (Mean age: 13;04, years; months). Their narrative and prosodic abilities, collected through a storytelling task, were compared with those of two control groups of typically developing (TD) children, one matched for nonverbal mental age (MA, Mean age: 5;03) and the other matched for the mean length of utterance (MLU, Mean age: 5;05). For the narrative competence, we considered both the macrostructural (i.e. quantity of information and story structure) and the microstructural level (i.e. verbal productivity, lexical diversity, syntactic complexity). For the prosodic competence, we took into account acoustic measures linked to intonation (i.e. mean fundamental frequency (f0), pitch range, final speech profile, and speed of speech). RESULT: The results of the Mann-Whitney test showed that participants with DS produced stories comparable to those of TD children in nearly all the variables considered, except for the syntactic complexity when compared with children of the same MA. Differences between participants with DS and TD children were found in the f0 and the final pitch profile used. CONCLUSION: Considering the small size of the samples, these preliminary results should be taken with caution. Nonetheless, this study confirms the presence of difficulties in the prosody of speech and in the syntactic competence of children with DS. These difficulties could have consequences on the possibility to communicate efficiently and should be taken into account in rehabilitation programmes.

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.

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.

BACKGROUND: 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. RESULTS: 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. CONCLUSION: 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.

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.