Objective: To identify regional cerebellar structural differences in boys and girls with nonsyndromic cleft of the lip and/or palate and determine whether these differences are related to speech impairment.
Design: Between 2003 and 2007, measures on cerebellar volume were obtained on 43 children with nonsyndromic cleft of the lip and/or palate and 43 age- and sex-matched, healthy controls. Children with the cleft condition also received speech evaluations. Children with nonsyndromic cleft of the lip and/or palate were recruited from clinic records, and controls (screened for medical, psychiatric, speech/language, and behavioral concerns) were recruited from the local community. All tests were administered at a large midwestern hospital. Boys and girls with nonsyndromic cleft of the lip and/or palate were compared with the healthy controls on global and regional measures of cerebellar volume. Areas of significant difference were then correlated with measures of speech to assess relationships in children with nonsyndromic cleft of the lip and/or palate.
Results: Boys with nonsyndromic cleft of the lip and/or palate had smaller cerebellums than controls (p = .002); whereas, for girls, only regional reductions in size reached significance (corpus medullare, p = .040). Cerebellum size was correlated with articulation for boys (p = .045).
Conclusions: These findings lend support to previous research documenting abnormal brain structure in children with nonsyndromic cleft of the lip and/or palate and suggest that the cerebellum may play a role in speech deficits along with other structural causes, at least in boys.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3218570 | PMC |
| http://dx.doi.org/10.1597/08-228 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Tooth Anomalies in Patients With Nonsyndromic Orofacial Cleft: A Systematic Review and Meta-Analysis.
Oral Dis
January 2025
Department of Oral Diagnosis, School of Dentistry, University of Campinas, Piracicaba, São Paulo, Brazil.
Objective: To evaluate the frequency of tooth anomalies (TA) in the deciduous and permanent dentition of patients with nonsyndromic orofacial clefts (NSOC), both inside and outside the cleft area.
Methods: The following databases were searched for the relevant literature: Cochrane, OVID, SciELO, Embase, Livivo, PubMed, Scopus, and Web of Science. The risk of bias was analyzed using the Joanna Briggs Institute.
Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search.
Hum Genet
January 2025
Division of Hearing and Balance Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-Ku, Tokyo, 152-8902, Japan.
There are hundreds of rare syndromic diseases involving hearing loss, many of which are not targeted for clinical genetic testing. We systematically explored the genetic causes of undiagnosed syndromic hearing loss using a combination of whole exome sequencing (WES) and a phenotype similarity search system called PubCaseFinder. Fifty-five families with syndromic hearing loss of unknown cause were analyzed using WES after prescreening of several deafness genes depending on patient clinical features.
View Article and Find Full Text PDFTranscriptome-wide association identifies as a regulator of mitophagy in non-syndromic cleft lip with or without palate.
Imeta
December 2024
State Key Laboratory of Cultivation Base of Research, Prevention and Treatment for Oral Diseases Nanjing Medical University Nanjing China.
This study investigated pathogenic genes associated with non-syndromic cleft lip with or without cleft palate (NSCL/P) through transcriptome-wide association studies (TWAS). By integrating expression quantitative trait loci (eQTL) data with genome-wide association study (GWAS) data, we identified key susceptibility genes, including . Notably, the variant rs12884809 G>A was associated with an increased risk of NSCL/P by enhancing the binding of the transcription factor ELK1 to the promoter, thereby activating its expression.
View Article and Find Full Text PDFA TAF11 variant contributes to non-syndromic cleft lip only through modulating neural crest cell migration.
Hum Mol Genet
December 2024
Department of Orthodontics, The Affiliated Stomatological Hospital of Nanjing Medical University, No. 1 Shanghai Road, Gulou District, Nanjing 210029, China.
The NC_000006.12: g.34887814C>G variant in TAF11 was identified as a potential functional variant in a Chinese pedigree including two non-syndromic cleft lip only (NSCLO) cases.
View Article and Find Full Text PDFSpeech Outcome Audit for Cleft Lip and Palate Patient Population Correlated With Veau Cleft Type, Surgical Repair Technique, and Patient Age.
J Craniofac Surg
October 2024
Institute of Plastic and Craniofacial Surgery, SOBRAPAR Hospital.
Objective: The objective of this study is to determine speech outcome differences for specific palate repair techniques and correlate these data with patient age at the time of operation.
Methods: A retrospective study was conducted on a cohort of consecutive nonsyndromic patients who underwent cleft lip and/or palate repair at the authors' hospital between 2010 and 2020. Only those patients who participated in at least 4 years of follow-up accompanied by audio-video recording were included.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!