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

Zampini, Laura; Draghi, Lara; Silibello, Gaia; Dall’Ara, Francesca; Rigamonti, Claudia; Suttora, Chiara; Zanchi, Paola; Salerni, Nicoletta; Lalatta, Faustina; Vizziello, Paola

doi:10.1111/1460-6984.12334

Cited by 24 publications

(32 citation statements)

References 44 publications

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“…Zampini et al, studied 15 boys and girls with an extra X chromosome at the age of 24 months. Parents from children with an extra X reported that their child produced significantly less words than parents of control children.…”

Section: Resultsmentioning

confidence: 99%

A review of neurocognitive functioning of children with sex chromosome trisomies: Identifying targets for early intervention

2019

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Sex chromosome trisomies (SCT) are among the most common chromosomal duplications in humans. Due to recent technological advances in non-invasive screening, SCT can already be detected during pregnancy. This calls for more knowledge about the development of (young) children with SCT. This review focused on neurocognitive functioning of children with SCT between 0 and 18 years, on domains of global intellectual functioning, language, executive functioning, and social cognition, in order to identify targets that could benefit from early treatment.Online databases were used to identify peer-reviewed scientific articles using specific search terms. In total 18 studies were included. When applicable, effect sizes were calculated to indicate clinical significance.Results of the reviewed studies show that although traditionally, the focus has been on language and intelligence (IQ) in this population, recent studies suggest that executive functioning and social cognition may also be significantly affected already in childhood.These findings suggest that neuropsychological screening of children diagnosed with SCT should be extended, to also include executive functioning and social cognition.Knowledge about these neurocognitive risks is important to improve clinical care and help identify targets for early support and intervention programs to accommodate for the needs of individuals with SCT.

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Section: Resultsmentioning

confidence: 99%

A review of neurocognitive functioning of children with sex chromosome trisomies: Identifying targets for early intervention

2019

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“…Communication delays are evident from the first stages of language development (Samango‐Sprouse 2001, Zampini et al . 2018a, 2018b). For instance, Samango‐Sprouse (2001, Samango‐Sprouse and Law 2001) found the presence of a delayed babbling and phonological development in children with Klinefelter syndrome younger than 12 months.…”

Section: Introductionmentioning

confidence: 99%

“…The delay in vocabulary development persists at 24 months: in the study of Zampini et al . (2018b), 75% of males with Klinefelter syndrome and 43% of females with triple X syndrome were late‐talking children (i.e., children with a vocabulary size lower than 50 words at 24 months).…”

Section: Introductionmentioning

confidence: 99%

Maternal input to children with sex chromosome trisomies

Zampini

Ferrante

Silibello

et al. 2020

Intl J Lang & Comm Disor

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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.

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“…An alteration was noticed in the elaboration of sentences, usually simple, with few elements and syntactic changes concerning the use of verbal tenses, besides pragmatic difficulties. The literature describes that the late development of language and speech may persist beyond childhood, with problems in syntactic production and narrative competence 13,15 . Significant problems were also observed in learning abilities, with deficiencies in all tests applied.…”

Section: Discussionmentioning

confidence: 99%

“…There is consensus in the literature about the intense difficulty in communication in individuals with KS [2][3][4][5][6] . Important deficits in expressive and receptive language were described, as well as alterations in short-term verbal memory, comprehension and utilization of grammar rules, speech-language processing and the literacy process 4,14,15 . Additionally, there are limitations in written expression and arithmetic, being classified into specific learning disorders as dyslexia and dysorthography.…”

Section: Introductionmentioning

confidence: 99%

Klinefelter syndrome: a speech-language and neuropsychological assessment

et al. 2018

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The Klinefelter syndrome is a chromosomal aneuploidy caused by additional X chromosomes in men. The diagnosis is made by clinical observation and karyotype examination. Besides other characteristics, the phenotype involves infertility, hypogonadism, gynecomastia, and cognitive alterations, mainly in the language domain. This paper describes the case of a teenager with Klinefelter syndrome and history of difficulties in the learning process, behavioral and communication problems. The ethical guidelines were followed in the present report. The cognitive-communicative, pragmatic and syntactic profile was drawn from the speech and neuropsychological evaluations. The speech-language assessment showed deficits in expression and comprehension. Difficulties were also found in phonological awareness, mathematical operations, reading and writing, access to the lexicon, alterations in pragmatics and occasionally, in syntactics. The neuropsychological evaluation indicated impairments in tasks that require the identification of similarities, establishment of cause-effect relationships and analogies, demonstrating a compromised reasoning for logical operations, with intellectual level incompatible with the chronological age. This interdisciplinary clinical study favors intervention approaches in rehabilitation, to maximize the potential of the individuals affected, contributing to improve their quality of life.

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

Abstract: 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).

Cited by 24 publications

References 44 publications

A review of neurocognitive functioning of children with sex chromosome trisomies: Identifying targets for early intervention

A review of neurocognitive functioning of children with sex chromosome trisomies: Identifying targets for early intervention

Maternal input to children with sex chromosome trisomies

Klinefelter syndrome: a speech-language and neuropsychological assessment

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