scholarly journals Cleft Palate Is Caused by CNS Dysfunction in Gad1 and Viaat Knockout Mice

PLoS ONE ◽  
2010 ◽  
Vol 5 (3) ◽  
pp. e9758 ◽  
Author(s):  
Won-Jong Oh ◽  
Joby J. Westmoreland ◽  
Ryan Summers ◽  
Brian G. Condie
2019 ◽  
Vol 50 (06) ◽  
pp. 378-381
Author(s):  
Daniel Bamborschke ◽  
Matthias Pergande ◽  
Hülya Sevcan Daimagüler ◽  
Elisabeth Mangold ◽  
Jörg Dötsch ◽  
...  

Mutations in GABAA-receptor subunit genes are associated with a heterogeneous spectrum of epilepsies. Patients with epilepsy caused by mutations in a specific GABAA-receptor (GABRA3) occasionally present with orofacial dysmorphism (e.g., cleft palates). While cleft palates have been described in Gabrb3 knockout mice and in humans with GABRB3 variants without epilepsy, the specific combination of epilepsy and cleft palate in humans with GABRB3 mutations has not yet been reported.We describe a patient with epileptic encephalopathy (EE) who presented with therapy-refractory neonatal-onset myoclonic seizures and severe developmental delay. Electroencephalogram showed burst suppression pattern at neonatal age and hypsarrhythmia at infantile age. Initial magnetic resonance imaging was unremarkable. As he additionally presented with a cleft palate, we were curious whether cleft palate and EE had the same genetic origin. Whole exome sequencing of the index patient revealed a novel pathogenic heterozygous de novo mutation in GABRB3 (c.899T > C; p.I300T). In consistency with Gabrb3 knockout mice data, this is the first report of cleft palate in a patient with GABRB3 associated EE.We suggest to add cleft palate to the phenotypic GABRB3 spectrum and to screen for mutations in GABAA-receptors in patients with EE and orofacial dysmorphism.


Development ◽  
2020 ◽  
Vol 147 (21) ◽  
pp. dev187369 ◽  
Author(s):  
SungKyoung Lee ◽  
Matthew J. Sears ◽  
Zijun Zhang ◽  
Hong Li ◽  
Imad Salhab ◽  
...  
Keyword(s):  

BMC Genomics ◽  
2013 ◽  
Vol 14 (1) ◽  
pp. 113 ◽  
Author(s):  
Ferhat Ozturk ◽  
You Li ◽  
Xiujuan Zhu ◽  
Chittibabu Guda ◽  
Ali Nawshad

1975 ◽  
Vol 6 (3) ◽  
pp. 119-124 ◽  
Author(s):  
Robert T. Wertz ◽  
Michael D. Mead

Typical examples of four different speech disorders—voice, cleft palate, articulation, and stuttering—were ranked for severity by kindergarten, first-grade, second-grade, and third-grade teachers and by public school speech clinicians. Results indicated that classroom teachers, as a group, moderately agreed with speech clinicians regarding the severity of different speech disorders, and classroom teachers displayed significantly more agreement among themselves than did the speech clinicians.


2020 ◽  
Vol 51 (4) ◽  
pp. 914-938
Author(s):  
Anna Cronin ◽  
Sharynne McLeod ◽  
Sarah Verdon

Purpose Children with a cleft palate (± cleft lip; CP±L) can have difficulties communicating and participating in daily life, yet speech-language pathologists typically focus on speech production during routine assessments. The International Classification of Functioning, Disability and Health: Children and Youth Version (ICF-CY; World Health Organization, 2007 ) provides a framework for holistic assessment. This tutorial describes holistic assessment of children with CP±L illustrated by data collected from a nonclinical sample of seven 2- to 3-year-old children, 13 parents, and 12 significant others (e.g., educators and grandparents). Method Data were collected during visits to participants' homes and early childhood education and care centers. Assessment tools applicable to domains of the ICF-CY were used to collect and analyze data. Child participants' Body Functions including speech, language, and cognitive development were assessed using screening and standardized assessments. Participants' Body Structures were assessed via oral motor examination, case history questionnaires, and observation. Participants' Activities and Participation as well as Environmental and Personal Factors were examined through case history questionnaires, interviews with significant others, parent report measures, and observations. Results Valuable insights can be gained from undertaking holistic speech-language pathology assessments with children with CP±L. Using multiple tools allowed for triangulation of data and privileging different viewpoints, to better understand the children and their contexts. Several children demonstrated speech error patterns outside of what are considered cleft speech characteristics, which underscores the importance of a broader assessment. Conclusion Speech-language pathologists can consider incorporating evaluation of all components and contextual factors of the ICF-CY when assessing and working with young children with CP±L to inform intervention and management practices.


1965 ◽  
Vol 30 (2) ◽  
pp. 166-173 ◽  
Author(s):  
Alta R. Brooks ◽  
Ralph L. Shelton ◽  
Karl A. Youngstrom

1966 ◽  
Vol 31 (2) ◽  
pp. 208-208

In the February 1966 issue of this journal, two errors occurred in Joan C. Pitzner’s and Hughlett L. Morris’s article “Articulation Skills and Adequacy of Breath Pressure Ratios of Children with Cleft Palate.” On page 29, the heading “Reality” should be “Reliability,” and on page 30, the heading “Pressure-Ration Group One” should be “Pressure-Ratio Group One.”


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