1.Analysis of error features of speech sound disorder in children aged 4 years or older and under 4 years of language development
Qianjun LIAO ; Changzhi SUN ; Wei WEI ; Jialin ZHOU ; Zijing XIAO
Journal of Audiology and Speech Pathology 2025;33(4):312-315
Objective To study the types of articulation errors in children with speech sound disorders(SSD)and compare the differences in articulation between two groups according to their ages of language development(≥4 years and<4 years).Methods A comprehensive assessment was conducted on 260 children with SSD who visited the outpatient department between May 2022 and May 2023.The S-S method for delayed language development e-valuation and the Gesell developmental schedules were used.Based on their assessed language developmental age,130 children from each age group(≥4 years and<4 years)were selected.All participants underwent speech articu-lation assessment using the Word List developed by Huang Zhaoming and Han Zhijuan.The types of consonant and vowel mispronunciations were compared between the two groups,and statistical analysis were performed using SPSS 26.0 software to determine differences in speech articulation.Results Apart from distortions,the most common type of consonant mispronunciation in both age groups was frontalization,while the most frequent type of vowel mispronunciation was final sound omission.The occurrence frequency and composition ratio of consonant and vowel mispronunciations were similar in both age groups,and there was no significant difference in speech articulation be-tween the two groups of children.Conclusion Early intervention is crucial for children with SSDs at different lan-guage developmental stages(≥4 years and<4 years)to prevent the solidification of incorrect articulation patterns.
2.Analysis of error features of speech sound disorder in children aged 4 years or older and under 4 years of language development
Qianjun LIAO ; Changzhi SUN ; Wei WEI ; Jialin ZHOU ; Zijing XIAO
Journal of Audiology and Speech Pathology 2025;33(4):312-315
Objective To study the types of articulation errors in children with speech sound disorders(SSD)and compare the differences in articulation between two groups according to their ages of language development(≥4 years and<4 years).Methods A comprehensive assessment was conducted on 260 children with SSD who visited the outpatient department between May 2022 and May 2023.The S-S method for delayed language development e-valuation and the Gesell developmental schedules were used.Based on their assessed language developmental age,130 children from each age group(≥4 years and<4 years)were selected.All participants underwent speech articu-lation assessment using the Word List developed by Huang Zhaoming and Han Zhijuan.The types of consonant and vowel mispronunciations were compared between the two groups,and statistical analysis were performed using SPSS 26.0 software to determine differences in speech articulation.Results Apart from distortions,the most common type of consonant mispronunciation in both age groups was frontalization,while the most frequent type of vowel mispronunciation was final sound omission.The occurrence frequency and composition ratio of consonant and vowel mispronunciations were similar in both age groups,and there was no significant difference in speech articulation be-tween the two groups of children.Conclusion Early intervention is crucial for children with SSDs at different lan-guage developmental stages(≥4 years and<4 years)to prevent the solidification of incorrect articulation patterns.
3.Analysis and prenatal diagnosis of FMR1 gene mutations among patients with unexplained mental retardation.
Shikun LUO ; Wenbin HE ; Yi LIAO ; Weilin TANG ; Xiurong LI ; Liang HU ; Juan DU ; Qianjun ZHANG ; Yueqiu TAN ; Ge LIN ; Wen LI
Chinese Journal of Medical Genetics 2021;38(5):439-445
OBJECTIVE:
To analyze the (CGG)n repeats of FMR1 gene among patients with unexplained mental retardation.
METHODS:
For 201 patients with unexplained mental retardation, the (CGG)n repeats of the FMR1 gene were analyzed by PCR and FragilEase
RESULTS:
For the 201 patients with unexplained mental retardation, 15 were identified with full mutations of the FMR1 gene. The prevalence of fragile X syndrome (FXS) in patients with unexplained mental retardation was determined as 7.5% (15/201). Prenatal diagnosis was provided for 6 pregnant women with pre- or full mutations. Analysis revealed that women with mental retardation and full FMR1 mutations exhibited a skewed XCI pattern with primary expression of the X chromosome carrying the mutant allele.
CONCLUSION
FXS has a high incidence among patients with unexplained mental retardation. Analysis of FMR1 gene (CGG)n repeats in patients with unexplained mental retardation can facilitate genetic counseling and prenatal diagnosis for their families. FMR1 gene (CGG)n repeats screening should be recommended for patients with unexplained mental retardation.
Female
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Fragile X Mental Retardation Protein/genetics*
;
Fragile X Syndrome/genetics*
;
Humans
;
Intellectual Disability/genetics*
;
Mutation
;
Pregnancy
;
Prenatal Diagnosis

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