Background There has been a lack of a standardized protocol for collection of patient reported outcomes (PRO) and detection of and indication for psychological treatment in cleft care. The objectives of this paper was to translate Cleft Hearing Appearance and Speech Questionnaire (CHASQ) into eight European languages, to investigate whether levels of PRO in patients with cleft lip and/or cleft palate (CL/P) were comparable across countries and to investigate clinician experience of the instrument. Methods The PRO measure-CHASQ-was translated into Bulgarian, Estonian, Greek, Latvian, Macedonian, Romanian, Serbian and Swedish and implemented with patients in the respective countries. A focus group discussion was conducted to investigate health care professional experience on the use of CHASQ in their clinics. Data was analysed in accordance with the principles of thematic analysis. Results Analysis showed statistically significant differences between countries and groups of diagnosis in CHASQ scores. CHASQ helped clinicians gain patient information and informed on treatment decisions, broadened the clinicians' role as caregivers and was perceived as short and easy to use. Limited time and resources in clinics were limitations in implementing the instrument. Conclusions Translation and utilization of CHASQ facilitated international comparison and cooperation. Linguistically, valid replicas of CHASQ are now available in many European languages. Results from this study show that CHASQ may be used for collection of PRO on patient satisfaction and to spark conversation between clinicians, patients and families. Level of evidence: Not rateable.

The results indicate that BCL3, which has functions related to cell adhesion and whose downregulation can cause disruption of ectodermal development, is likely to be important in facial formation. Birth Defects Research (Part A), 2012.

Craniofacial morphogenesis is highly complex, as is the anatomical region involved. Errors during this process, resulting in orofacial clefts, occur in more than 400 genetic syndromes. Some cases of cleft lip and/or palate (CLP) are caused by mutations in single genes; however, complex interactions between genetic and environmental factors are considered to be responsible for the majority of non-syndromic CLP development. The aim of the current study was to identify genetic risk factors in patients with isolated cleft palate (CP) by whole genome sequencing. Patients with isolated CP (n = 30) recruited from the Riga Cleft Lip and Palate Centre, Institute of Stomatology, Riga, were analyzed by whole genome sequencing. Pathogenic or likely pathogenic variants were discovered in genes associated with CP (TBX22, COL2A1, FBN1, PCGF2, and KMT2D) in five patients; hence, rare disease variants were identified in 17% of patients with non-syndromic isolated CP. Our results were relevant to routine genetic counselling practice and genetic testing recommendations. Based on our data, we propose that all newborns with orofacial clefts should be offered genetic testing, at least for a panel of known CLP genes. Only if the results are negative and there is no suggestive family history or additional clinical symptoms (which would support additional exome or genome-wide investigation), should multifactorial empiric recurrence risk prediction tools be applied for families.

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