RESUMO
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.
Assuntos
Transtornos do Desenvolvimento da Linguagem , Relações Mãe-Filho , Trissomia , Humanos , Feminino , Pré-Escolar , Masculino , Transtornos do Desenvolvimento da Linguagem/psicologia , Transtornos do Desenvolvimento da Linguagem/diagnóstico , Trissomia/diagnóstico , Relações Mãe-Filho/psicologia , Linguagem Infantil , Aberrações dos Cromossomos Sexuais , Vocabulário , Adulto , LactenteRESUMO
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.
Assuntos
Pais , Humanos , Masculino , Feminino , Pais/psicologia , Adulto , Criança , Adolescente , Adulto Jovem , Diagnóstico Pré-Natal/psicologia , Pré-Escolar , Itália , Cariótipo XYY/psicologia , Cariótipo XYY/diagnóstico , Inquéritos e Questionários , Transtornos dos Cromossomos Sexuais/psicologia , Transtornos dos Cromossomos Sexuais/diagnóstico , Revelação da VerdadeRESUMO
Several changes in the behavioral phenotype arise with the growth of children affected by Cornelia de Lange Syndrome (CdLS) and Rubinstein-Taybi Syndrome (RSTS). However, previous research relied on a cross-sectional study design turning into age-related comparisons of different syndromic cohorts to explore age-dependent changes. We aim to outline the variating pathways of the neuropsychiatric functioning across the lifespan in CdLS and RSTS, through the setting up of a longitudinal study design. The sample included 14 patients with CdLS and 15 with RSTS. The assessments were carried out in two different timepoints. Our findings highlight that the cognitive profile of CdLS is subjected to a worsening trend with decreasing Intellectual Quotient (IQ) scores from T0 to T1, whereas RSTS shows a stable IQ over time. Patients affected by RSTS show greater improvements compared to CdLS in communication, daily living skills, social abilities, and motor skills across the lifespan. Both syndromes report an upward trend in behavioral and emotional difficulties even if CdLS exhibit a significant and major deterioration compared to individuals with RSTS. Being aware of the early dysfunctional patterns which might pave the way for later neuropsychiatric impairments is the first step for planning preventive interventions.
Assuntos
Síndrome de Cornélia de Lange , Síndrome de Rubinstein-Taybi , Humanos , Síndrome de Rubinstein-Taybi/genética , Síndrome de Rubinstein-Taybi/psicologia , Estudos Longitudinais , Estudos Transversais , Síndrome de Cornélia de Lange/diagnóstico , Síndrome de Cornélia de Lange/genética , FenótipoRESUMO
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.
Assuntos
Transtornos do Desenvolvimento da Linguagem/reabilitação , Comportamento Materno/psicologia , Relações Mãe-Filho/psicologia , Transtornos dos Cromossomos Sexuais/complicações , Trissomia , Adulto , Estudos de Casos e Controles , Linguagem Infantil , Comunicação , Feminino , Humanos , Lactente , Transtornos do Desenvolvimento da Linguagem/genética , Linguística , Masculino , Transtornos dos Cromossomos Sexuais/psicologiaRESUMO
BACKGROUND: The aim of this study is twofolded: to present a multi-disciplinary and multi-centric approach in the early care of patients with Klinefelter Syndrome (KS) and their families and to increase the knowledge about the behavioral phenotype of preschool boys with KS. METHODS: Fifteen boys (mean age 2 years and 7 months) who had been diagnosed prenatally were evaluated in the areas of adaptive skills, developmental level, language, and behavior. Besides offering information about their child, both parents of each couple were asked to describe their feelings at the time of the prenatal diagnosis and at the time of the study. RESULTS: The behavioral phenotype of the boys of our sample was characterized by a mean Developmental Quotient of 95 (in the normal range) but by low scores in the domain of communication, particularly in the area of expressive language. Behavioral problems were observed in some of the children, and the parents reported significant levels of distress related to their relationship with the child. All parents recalled feeling very anxious when the diagnosis was given, but nine of them (75%) said their concern diminished after receiving genetic counselling. CONCLUSIONS: A multi-disciplinary model is essential in the care of 47,XXY boys and in the assistance to their families, in order both to facilitate the children's growth and offer to the parents updated clinical and psychosocial information about the Klinefelter Syndrome and support.
Assuntos
Comunicação , Síndrome de Klinefelter/fisiopatologia , Relações Pais-Filho , Pais/psicologia , Pré-Escolar , Feminino , Humanos , Lactente , Comunicação Interdisciplinar , Síndrome de Klinefelter/diagnóstico , Masculino , Gravidez , Diagnóstico Pré-NatalRESUMO
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).
Assuntos
Gestos , Síndrome de Klinefelter/psicologia , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/psicologia , Fala , Linguagem Infantil , Pré-Escolar , Cromossomos Humanos X , Feminino , Humanos , Masculino , Aberrações dos Cromossomos Sexuais , Medida da Produção da Fala , Trissomia , VocabulárioRESUMO
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.
Assuntos
Linguagem Infantil , Síndrome de Klinefelter , Vocabulário , Gestos , Humanos , Lactente , Transtornos do Desenvolvimento da Linguagem/diagnóstico , MasculinoRESUMO
In this study, we present preliminary data on cognitive, behavioral and communication domains of individuals with Cornelia de Lange Syndrome (CdLS), collected through a specific protocol combining direct and indirect tools. Seventeen subjects with CdLS were assessed, 2.5- to 13.4-year-old. Cognitive level of the subjects differed from what previously described in literature, showing more patients with normal or borderline cognitive abilities. We found a relation between severe autistic behavior and comprehension impairments: all children with high CARS score have severe receptive language disability. A correlation was also found between CARS score and ID: high CARS score occurred only in patients with profound levels of ID. Results of this study support the need for a specific assessment protocol tailored for the characteristics of subjects with multiple disabilities, to be able to identify their strengths avoiding the avalanche effect of weaknesses. Most tests on neuropsychological functions have been developed and standardized for typically developing children, and require the integrity of other functions aside the one that is evaluated, determining an underestimation of the level of functioning. This study could be a starting point to develop new models applicable to other genetic syndromes and complex situations; new and wider studies are needed in order to allow a more complete and accurate assessment, thereby ensuring more efficient and family-centered treatment plans.
Assuntos
Comportamento do Adolescente/fisiologia , Transtorno Autístico/psicologia , Comportamento Infantil/fisiologia , Cognição/fisiologia , Comunicação , Síndrome de Cornélia de Lange/diagnóstico , Síndrome de Cornélia de Lange/psicologia , Adolescente , Transtorno Autístico/diagnóstico , Criança , Pré-Escolar , Síndrome de Cornélia de Lange/genética , Feminino , Humanos , Masculino , Inquéritos e Questionários , Análise e Desempenho de TarefasRESUMO
There are between 5,000 and 8,000 distinct rare diseases (RDs) affecting 6-8% of the population, most of which are caused by genetic defects. Many are highly complex, childhood-onset, multi-system disorders that are often associated with developmental disability, and require lifelong, highly specialized care and support. As larger numbers of children with previously fatal RDs survive into adulthood, they encounter significant challenges in transitioning from family-centered, developmentally focused, multidisciplinary pediatric care to a less supportive adult healthcare system that is often unfamiliar with these conditions. This paper discusses the challenges of the transition from pediatric to adult health care in two groups of patients with multisystem genetic RDs (neurofibromatosis 1 [NF1] and Williams-Beuren syndrome [WBS]), and analyzes strategies for making the process easier for patients with and without developmental disabilities. Our findings show that there are still no guidelines in national healthcare programs on how to transition RD adolescents with and without developmental disabilities, and only a few pediatric centers have implemented the elements of transition in their general practice. Evidence regarding programs to facilitate transition is inconclusive and the transition from pediatric medicine to adult medicine for RDs remains a major challenge. However, transition requires both time and personnel, which are difficult to find in periods of fiscal austerity. Nevertheless, we should strongly advocate for governments investing more into transition infrastructure or they will face increased long-term social and economic costs due to poor treatment compliance, disengagement from services, increased genetic risks, and higher rates of disease-related complications.
Assuntos
Continuidade da Assistência ao Paciente/organização & administração , Neurofibromatose 1 , Transição para Assistência do Adulto , Síndrome de Williams , Adolescente , Adulto , Cuidadores , Deficiências do Desenvolvimento , Humanos , Neurofibromatose 1/terapia , Pediatria/organização & administração , Síndrome de Williams/terapiaRESUMO
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.
Assuntos
Linguagem Infantil , Fonética , Humanos , Criança , Lactente , Trissomia/diagnóstico , Medida da Produção da Fala , Cromossomos Sexuais , FalaRESUMO
BACKGROUND: There is evidence that social impairments in Cornelia de Lange Syndrome (CdLS) differ from those observed in idiopathic autism as they are characterized mainly by social anxiety. However, the knowledge of the fundamental features of social anxiety symptoms in this target population is limited. This brief systematic review aims to investigate the relationship between social anxiety and CdLS through multiple cross-sectional comparisons. METHODS: PRISMA-P guidelines were followed, and the literature research was conducted in Pubmed, EBSCOhost, Google Scholar, and ScienceDirect using "Cornelia de Lange Syndrome" or "CdLS" and "social anxiety" as search terms. RESULTS: Six articles met the eligibility criteria. Results show that heightened levels of social anxiety in CdLS individuals occur before and after the social engagement and are mediated by both the nature of the social demand and the familiarity of the examiner they interact with. LIMITATIONS: The interpretation of results is limited by the wide heterogeneity of patients' age and sample size across the reviewed studies, and by the absence of a unique observational procedure to detect behaviors indicative of social anxiety in syndromic individuals. CONCLUSIONS: These findings have considerable clinical implications for intervention planning which might be generalized to all people with intellectual disability linked to a genetic syndrome.
Assuntos
Síndrome de Cornélia de Lange , Ansiedade , Estudos Transversais , Síndrome de Cornélia de Lange/genética , Humanos , Metanálise como AssuntoRESUMO
BACKGROUND AND AIM: There is mounting evidence highlighting that Cornelia de Lange Syndrome (CdLS) and Rubinstein-Taybi Syndrome's (RSTS) behavioral phenotypes are not stable over individual developmental trajectories and that several psychiatric disorders might arise with age. Our study aims to examine the specific hallmarks of psychopathology and behavioral phenotypes in four different age ranges: infancy and toddlerhood, early childhood, middle childhood, and adolescence, in both genetic syndromes. METHOD: The sample included 44 patients with CdLS (48% boys, age = 6.67 ± 4.36) and 31 with RSTS (48% boys, age = 6.89 ± 4.58) recruited through follow-ups. Cognitive, behavioral, and autism assessments were carried out with Griffith's scales or the Leiter-R, the Child Behavior Checklist, and the Child Autism Rating Scales 2. Multiple ANOVA 2 × 4 were run to outline behavioral phenotypic age-related syndromic markers and ANCOVA to value the weight of IQ and ASD-related traits on the psychopathological outcome. RESULTS: Findings showed that anxiety is a crucial phenotypic hallmark, independent of IQ but associated with autistic traits, that increases from infancy to adolescence in both CdLS and RSTS. CONCLUSION AND IMPLICATIONS: Being aware of the developmental challenges that growing children are called to face is essential for drawing up proper standards of assessment turning into target age-related interventions, ensuring these patients personalized healthcare and improvement in life quality.
Assuntos
Transtorno Autístico , Síndrome de Cornélia de Lange , Síndrome do Cromossomo X Frágil , Transtornos Mentais , Síndrome de Rubinstein-Taybi , Criança , Pré-Escolar , Síndrome de Cornélia de Lange/genética , Síndrome de Cornélia de Lange/psicologia , Feminino , Síndrome do Cromossomo X Frágil/psicologia , Humanos , Masculino , Síndrome de Rubinstein-Taybi/genética , Síndrome de Rubinstein-Taybi/psicologiaRESUMO
Behavioural phenotype and autism-related traits of 38 patients affected by Cornelia de Lange syndrome (CdLS) were assessed using a specific neuropsychiatric protocol. Subsequently,we search for possible genotype-phenotype correlations comparing individuals with NIPBL variants and patients with negative molecular results. Firstly results showed a higher percentage of subjects with normal intellectual quotient (IQ) and borderline IQ; adaptive skills were lower than expected for age in all participants. 39.5% of the sample presented with autism spectrum disorder (ASD), NIPBL mutated individuals demonstrated a worse trend in comparison with the clinical diagnosis group. non-truncating individuals displayed no ASD and better communication abilities than truncating individuals. Findings increase our awareness of the strengths and weaknesses points in CdLS individuals.
Assuntos
Transtorno do Espectro Autista , Síndrome de Cornélia de Lange , Transtorno do Espectro Autista/genética , Proteínas de Ciclo Celular/genética , Síndrome de Cornélia de Lange/diagnóstico , Genótipo , Humanos , FenótipoRESUMO
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.
Assuntos
Desenvolvimento da Linguagem , Trissomia , Criança , Humanos , Testes de Linguagem , Cromossomos Sexuais , Fala , Trissomia/genéticaRESUMO
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.
Assuntos
Transtornos do Desenvolvimento da Linguagem , Trissomia , Pré-Escolar , Humanos , Idioma , Transtornos do Desenvolvimento da Linguagem/psicologia , Narração , Cromossomos SexuaisRESUMO
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.
Assuntos
Poder Familiar , Comportamento Problema , Adolescente , Pré-Escolar , Feminino , Humanos , Lactente , Mães/psicologia , Poder Familiar/psicologia , Cromossomos Sexuais , Estresse Psicológico/psicologia , TrissomiaRESUMO
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.
Assuntos
Transtornos do Desenvolvimento da Linguagem , Trissomia , Feminino , Humanos , Desenvolvimento da Linguagem , Cromossomos Sexuais , VocabulárioRESUMO
Purpose Aims of this research were (a) to investigate higher order linguistic and cognitive skills of Italian children with cochlear implants (CIs); (b) to correlate them with the comprehension of irony, which has never been systematically studied in this population; and (c) to identify the factors that facilitate the development of this competence. Method We tested 28 Italian children with CI (mean chronological age = 101 [SD = 25.60] months, age range: 60-144 months), and two control groups of normal-hearing (NH) peers matched for chronological age and for hearing age, on a series of tests assessing their cognitive abilities (nonverbal intelligence and theory of mind), linguistic skills (morphosyntax and prosody recognition), and irony comprehension. Results Despite having grammatical abilities in line with the group of NH children matched for hearing age, children with CI lag behind both groups of NH peers on the recognition of emotions through prosody and on the comprehension of ironic stories, even if these two abilities were not related. Conclusions This is the first study that targeted irony comprehension in children with CI, and we found that this competence, which is crucial for maintaining good social relationships with peers, is impaired in this population. In line with other studies, we found a correlation between this ability and advanced theory of mind skills, but at the same time, a deeper investigation is needed, to account for the high variability of performance in children with CI.
Assuntos
Implante Coclear , Implantes Cocleares , Teoria da Mente , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Compreensão , Humanos , IdiomaRESUMO
Fragile X syndrome (FXS) is one of the most frequent causes of mental retardation, intellectual disability, and autism. Most cases are the result of an expansion of the CGG trinucleotide repeat in the 5' untranslated region of the FMR1 gene and the subsequent functional loss of the related protein. We describe the case of a 4-year-old boy who clinically presents mild psychomotor delay without any major clinical dysmorphisms. Molecular analysis of the FMR1 gene showed mosaicism in terms of size and methylation, with one normal and 1 fully mutated allele, which is very rare in this syndrome. Physicians should therefore consider a diagnosis of FXS even if the patient's phenotype is mild. Although rare, diagnosing this condition has important consequences for the patient's rehabilitation and the family planning of parents and relatives.