目的 调查不同年龄段Williams综合征（Williams syndrome, WS）儿童早期的认知发育特点。 方法 前瞻性纳入2018年9月—2023年6月期间在浙江大学医学院附属儿童医院儿童保健科门诊确诊为WS的儿童106例，年龄1~<5岁。所有患儿均进行了Gesell发育诊断评估。分析不同年龄段WS儿童的认知发育特征。 结果 106例WS儿童的平均年龄为（3.1±1.2）岁；男性58例，女性48例。男女患儿在大运动、精细动作、语言、个人-社会及适应性行为这5个能区发育水平的比较差异均无统计学意义（P>0.05）。不同年龄段患儿轻度、中度、重度和极重度发育障碍的发生率差异均无统计学意义（P>0.05）。不同年龄段患儿大运动、语言、个人-社会、适应性等4个能区发育水平的比较差异无统计学意义（P>0.05）；随着年龄的增长，患儿的精细动作发育水平呈下降的趋势（P<0.05）。WS儿童中，每个年龄组的言语智商和非言语智商的比较差异均无统计学意义（P>0.05）。 结论 WS儿童整体的发育水平随年龄增长保持稳定，其早期的语言能力并没有显著优于非语言能力。
Abstract
Objective To investigate the early cognitive development characteristics of children with Williams syndrome (WS) at different age stages. Methods From September 2018 to June 2023, 106 children diagnosed with WS at the Department of Pediatric Health Care, Children's Hospital, Zhejiang University School of Medicine, aged 1 to <5 years, were prospectively enrolled. All children underwent Gesell developmental diagnostic assessments to analyze the cognitive development characteristics of WS children across different age groups. Results The average age of the 106 WS children was (3.1±1.2) years; 58 were male, and 48 were female. There were no significant differences in developmental levels between males and females in the five domains of gross motor skills, fine motor skills, language, personal-social skills, and adaptive behavior (P>0.05). The incidence rates of mild, moderate, severe, and profound developmental disabilities among children of different age groups showed no significant differences (P>0.05). Comparisons of developmental levels in gross motor skills, language, personal-social skills, and adaptive behavior among different age groups were also not statistically significant (P>0.05). With the increase of age, the developmental level of fine motor skills showed a decreasing trend (P<0.05). There were no significant differences in verbal IQ and non-verbal IQ within each age group of WS children (P>0.05). Conclusions The overall developmental level of WS children stabilizes with age, and their early language abilities do not significantly exceed their non-verbal abilities.
关键词
Williams综合征 /
认知发育 /
言语 /
儿童
Key words
Williams syndrome /
Cognitive development /
Language /
Child
{{custom_sec.title}}
{{custom_sec.title}}
{{custom_sec.content}}
参考文献
1 Kozel BA, Barak B, Kim CA, et al. Williams syndrome[J]. Nat Rev Dis Primers, 2021, 7(1): 42. PMID: 34140529. PMCID: PMC9437774. DOI: 10.1038/s41572-021-00276-z.
2 Honjo RS, Monteleone VF, Aiello VD, et al. Cardiovascular findings in Williams-Beuren syndrome: experience of a single center with 127 cases[J]. Am J Med Genet A, 2022, 188(2): 676-682. PMID: 34713566. DOI: 10.1002/ajmg.a.62542.
3 Twite MD, Stenquist S, Ing RJ. Williams syndrome[J]. Paediatr Anaesth, 2019, 29(5): 483-490. PMID: 30811742. DOI: 10.1111/pan.13620.
4 Serrano-Juárez CA, Prieto-Corona B, Rodríguez-Camacho M, et al. Neuropsychological genotype-phenotype in patients with Williams syndrome with atypical deletions: a systematic review[J]. Neuropsychol Rev, 2023, 33(4): 891-911. PMID: 36520254. DOI: 10.1007/s11065-022-09571-2.
5 Martens MA, Wilson SJ, Reutens DC. Research review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype[J]. J Child Psychol Psychiatry, 2008, 49(6): 576-608. PMID: 18489677. DOI: 10.1111/j.1469-7610.2008.01887.x.
6 Meyer-Lindenberg A, Mervis CB, Berman KF. Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour[J]. Nat Rev Neurosci, 2006, 7(5): 380-393. PMID: 16760918. DOI: 10.1038/nrn1906.
7 Searcy YM, Lincoln AJ, Rose FE, et al. The relationship between age and IQ in adults with Williams syndrome[J]. Am J Ment Retard, 2004, 109(3): 231-236. PMID: 15072519. DOI: 10.1352/0895-8017(2004)109<231:TRBAAI>2.0.CO;2.
8 Jarrold C, Baddeley AD, Hewes AK. Verbal and nonverbal abilities in the Williams syndrome phenotype: evidence for diverging developmental trajectories[J]. J Child Psychol Psychiatry, 1998, 39(4): 511-523. PMID: 9599779.
9 Mervis CB, Velleman SL. Children with Williams syndrome: language, cognitive, and behavioral characteristics and their implications for intervention[J]. Perspect Lang Learn Educ, 2011, 18(3): 98-107. PMID: 22754603. PMCID: PMC3383614. DOI: 10.1044/lle18.3.98.
10 Sauna-Aho O, Bjelogrlic-Laakso N, Sirén A, et al. Cognition in adults with Williams syndrome: a 20-year follow-up study[J]. Mol Genet Genomic Med, 2019, 7(6): e695. PMID: 31033253. PMCID: PMC6565587. DOI: 10.1002/mgg3.695.
11 Lowery MC, Morris CA, Ewart A, et al. Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients[J]. Am J Hum Genet, 1995, 57(1): 49-53. PMID: 7611295. PMCID: PMC1801249.
12 杨玉凤. 儿童发育行为心理评定量表. 北京: 人民卫生出版社, 2016: 70-72.
13 谭钊安, 童梅玲, 黄萍, 等. 早期干预对早产儿和低出生体重儿在婴儿期行为发育的影响[J]. 实用儿科临床杂志, 2003, 18(2): 100-102. DOI: 10.3969/j.issn.1003-515X.2003.02.009.
14 Morris CA, Braddock SR; Council on Genetics. Health care supervision for children with williams syndrome[J]. Pediatrics, 2020, 145(2): e20193761. PMID: 31964759. DOI: 10.1542/peds.2019-3761.
15 Miezah D, Porter M, Batchelor J, et al. Cognitive abilities in Williams syndrome[J]. Res Dev Disabil, 2020, 104: 103701. PMID: 32554266. DOI: 10.1016/j.ridd.2020.103701.
16 Li FF, Chen WJ, Yao D, et al. Clinical phenotypes study of 231 children with Williams syndrome in China: a single-center retrospective study[J]. Mol Genet Genomic Med, 2022, 10(12): e2069. PMID: 36168091. PMCID: PMC9747549. DOI: 10.1002/mgg3.2069.
17 Zhao C, Pleasure SJ. Frizzled9 protein is regionally expressed in the developing medial cortical wall and the cells derived from this region[J]. Brain Res Dev Brain Res, 2005, 157(1): 93-97. PMID: 15939089. DOI: 10.1016/j.devbrainres.2005.02.018.
18 Pinelli M, Terrone G, Troglio F, et al. A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability[J]. Clin Genet, 2020, 97(6): 940-942. PMID: 32349160. PMCID: PMC7318190. DOI: 10.1111/cge.13753.
19 Lugo M, Wong ZC, Billington CJ, et al. Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams-Beuren syndrome[J]. Am J Med Genet A, 2020, 182(5): 1008-1020. PMID: 32077592. PMCID: PMC8349106. DOI: 10.1002/ajmg.a.61522.
20 Sampaio A, Férnandez M, Henriques M, et al. Cognitive functioning in Williams syndrome: a study in Portuguese and Spanish patients[J]. Eur J Paediatr Neurol, 2009, 13(4): 337-342. PMID: 18708293. DOI: 10.1016/j.ejpn.2008.06.010.
21 Fisher MH, Lense MD, Dykens EM. Longitudinal trajectories of intellectual and adaptive functioning in adolescents and adults with Williams syndrome[J]. J Intellect Disabil Res, 2016, 60(10): 920-932. PMID: 27273269. DOI: 10.1111/jir.12303.
22 Reilly J, Losh M, Bellugi U, et al. "Frog, where are you?" Narratives in children with specific language impairment, early focal brain injury, and Williams syndrome[J]. Brain Lang, 2004, 88(2): 229-247. PMID: 14965544. DOI: 10.1016/S0093-934X(03)00101-9.
23 Mervis CB, Robinson BF. Expressive vocabulary ability of toddlers with Williams syndrome or Down syndrome: a comparison[J]. Dev Neuropsychol, 2000, 17(1): 111-126. PMID: 10916578. DOI: 10.1207/S15326942DN1701_07.
24 Nazzi T, Gopnik A, Karmiloff-Smith A. Asynchrony in the cognitive and lexical development of young children with Williams syndrome[J]. J Child Lang, 2005, 32(2): 427-438. PMID: 16045258. DOI: 10.1017/s0305000904006737.
25 Levy Y. A longitudinal study of language development in two children with Williams syndrome[J]. J Child Lang, 2004, 31(2): 287-310. PMID: 15495842. DOI: 10.1017/s0305000904006002.
26 Zhou J, Zheng Y, Liang G, et al. Atypical deletion of Williams-Beuren syndrome reveals the mechanism of neurodevelopmental disorders[J]. BMC Med Genomics, 2022, 15(1): 79. PMID: 35379245. PMCID: PMC8981662. DOI: 10.1186/s12920-022-01227-7.
PDF(526 KB)
