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

Abstract

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.

Discordant Prenatal Cell-Free DNA Screening vs. Diagnostic Results of Sex Chromosome Aneuploidies: Implications for Newborn Screening and Genetic Counseling

“…In a recent publication by Johnston et al evaluating ethical principles relevant to cfDNA in SCA, they concluded that cfDNA for SCA should be universally offered to patients based on the overarching ethical principle of reproductive autonomy and emphasized that the onus of addressing the limitations of cfDNA in SCAs be placed on the providers during more comprehensive genetic counseling [ 30 ]. One possible solution to address this global debate would be pivoting from cfDNA to newborn screening for SCAs, supported by predictors of outcomes evaluated in the eXtraordinarY Babies Study and other studies evaluating early neurodevelopmental phenotypes that have resulted in evidence of risk factors and effective interventions impacting long-term outcomes for patients with SCA [ 31 , 32 , 33 , 34 , 35 ].…”

Maternal input to 24‐month‐old children with sex chromosome trisomies

“…Considering language development in children with SCTs, language delays were found as early as 8 months in the production of babbling utterances (Zampini et al., 2021). Moreover, speech sound and vocabulary development delays were found at 18 and 24 months (Capelli et al., 2023; Zampini et al., 2018, 2022). In particular, nearly 70% of children with SCTs in Zampini et al.’s study (2022) were identified as LT children at 24 months.…”