Protocol - Existence of Cleft Lip or Palate
Description
These interviewer-administered questions ask the subject or biological parents of a child with cleft lip or palate for a description of the orofacial defects present, the extent of the defect, and if another family member has been diagnosed with the same condition.
Specific Instructions
This protocol is administered by an interviewer asking questions of a subject or of an informant (usually a parent) if the subject is a young child. Question 1 should be asked as written. If the answer is not "no," then the LAHSHAL (Lip, Alveolus, Hard palate, Soft palate, Hard palate, Alveolus, Lip) is completed to characterize the defect. Then the LAHSHAL is completed from the perspective of the interviewer looking at the subject (i.e., right to left). The "? - unknown" variable should only be filled in if the interviewer has exhausted all other means to obtain this data. For each of the five components, fill in a bubble next to appropriate code (ACIX?*) - key provided. Many cleft defects are evident to the interviewer, but still the subject or the informant should be asked about each part of the defect (lip, alveolus, hard palate, and soft palate). Record a cleft uvula as a microform cleft of the soft palate. A cleft in the alveolus in addition to cleft palate should be recorded as a "cleft lip and palate." Question 2 is also asked of each subject (or informant regarding the subject) even if the subject does not have an orofacial cleft.
Availability
Protocol
Clefting
1. Have you been diagnosed with a cleft lip or palate?
[ ] No
[ ] Cleft lip
[ ] Cleft palate
[ ] Cleft lip and palate
[ ] Submucous cleft palate
[ ] Dont Know/Non-Applicable/Refused
Subject’s Right Subject’s Left
L | A | H | S | H | A | L |
| o A o C o I o X o ? o * | o A o C o I o X o ? o * | o A o C o I o X o ? o * | o A o C o I o X o ? o * | o A o C o I o X o ? o * | o A o C o I o X o ? o * | o A o C o I o X o ? o * |
Lip
Alveolus
Hard palate
Soft palate
A = yes, but unknown if “C” or “I”
C = complete
I = incomplete
X = not cleft
? = unknown
* = microform or submucous cleft
2. Has any relative in your family been diagnosed with a cleft lip or palate?
[ ] No
[ ] Yes
[ ] Dont Know/Non-Applicable/Refused
If yes, provide details on who has the condition: ____________________________
Personnel and Training Required
The interviewer must be trained to conduct personal interviews with individuals from the general population. The interviewer must be trained and found to be competent (i.e., tested by an expert) at the completion of personal interviews.
Equipment Needs
None
Requirements
| Requirement Category | Required |
|---|---|
| Major equipment | No |
| Specialized training | No |
| Specialized requirements for biospecimen collection | No |
| Average time of greater than 15 minutes in an unaffected individual | No |
Mode of Administration
Interviewer-administered questionnaire
Lifestage
Infant, Toddler, Child, Adolescent, Adult, Senior, Pregnancy
Participants
Participants ≥18 years of age or biological parents of children (birth through 18 years of age) who have/had cleft lip or palate.
Selection Rationale
This protocol, from a national study, includes questions about the respondents and their familys history of cleft lip or palate.
Language
English
Standards
| Standard | Name | ID | Source |
|---|---|---|---|
| Logical Observation Identifiers Names and Codes (LOINC) | Oral cleft lip or palate proto | 62586-3 | LOINC |
| Human Phenotype Ontology | Cleft palate | HP:0000175 | HPO |
| Human Phenotype Ontology | Cleft lip | HP:0410030 | HPO |
| caDSR Form | PhenX PX080501 - Existence Of Cleft Lip Or Palate | 5964903 | caDSR Form |
Derived Variables
None
Process and Review
Not applicable.
Protocol Name from Source
Oral Facial Cleft Study of Cleft Lip and Palate, Demographics and Medical History
Source
National Institute of Dental and Craniofacial Research (NIDCR), Oral Facial Cleft Study of Cleft Lip and Palate, Demographics and Medical History. Retrieved on April 23, 2009.General References
Kriens, O. (1989). LAHSHAL. A concise documentation system for cleft lip, alveolus, and palate diagnoses. In O. Kriens (Ed.), What is a cleft lip and palate? A multidisciplinary update (pp. 30–34). Stuttgart, West Germany: Thieme.
Mossey, P. A., Little, J., Munger, R. G., Dixon, M. J., & Shaw, W. C. (2009). Cleft lip and palate. Lancet, 374(9703), 1773–1785.
Weinberg, S. M., Neiswanger, K., Martin, R. A., Mooney, M. P., Kane, A. A., Wenger, S. L., Losee, J., Deleyiannis, F., Ma, L., de Salamanca, J. E., Czeizel, A. E. & Marazita, M. L. (2006). The Pittsburgh Oral-Facial Cleft (POFC) Study: Expanding the cleft phenotype. Background and justification. Cleft Palate-Craniofacial Journal, 43, 7–20.
Protocol ID
80501
Variables
Export Variables| Variable Name | Variable ID | Variable Description | dbGaP Mapping | |
|---|---|---|---|---|
| PX080501_Relative_Cleft_Lip_Palate | ||||
| PX080501020100 | Has any relative in your family been more | Variable Mapping | ||
| PX080501_Relative_Cleft_Lip_Palate_Details | ||||
| PX080501020200 | (Has any relative in your family been more | N/A | ||
| PX080501_Self_Cleft_Lip_Palate | ||||
| PX080501010100 | Have you been diagnosed with a cleft lip or more | Variable Mapping | ||
| PX080501_Self_Cleft_Palate_Left_Alveolus | ||||
| PX080501010700 | Subject's Left Alveolus | Variable Mapping | ||
| PX080501_Self_Cleft_Palate_Left_Hard | ||||
| PX080501010600 | Subject's Left Hard palate | Variable Mapping | ||
| PX080501_Self_Cleft_Palate_Left_Lip | ||||
| PX080501010800 | Subject's Left Lip | Variable Mapping | ||
| PX080501_Self_Cleft_Palate_Right_Alveolus | ||||
| PX080501010300 | Subject's Right Alveolus | Variable Mapping | ||
| PX080501_Self_Cleft_Palate_Right_Hard | ||||
| PX080501010400 | Subject's Right Hard palate | Variable Mapping | ||
| PX080501_Self_Cleft_Palate_Right_Lip | ||||
| PX080501010200 | Subject's Right Lip | Variable Mapping | ||
| PX080501_Self_Cleft_Palate_Soft | ||||
| PX080501010500 | Subject's Soft palate | Variable Mapping | ||
Measure Name
Existence of Cleft Lip or Palate
Release Date
December 30, 2009
Definition
A measure to assess if an individual has a diagnosed cleft lip or palate, its location and if other relatives have the same condition.
Purpose
These questions provide information about whether a person has been diagnosed with cleft lip or palate and whether there is a family history of this condition.
Keywords
Oral health, Cleft lip, Cleft palate, Orofacial defects, Birth defects, Oral Facial Cleft, Study of Cleft Lip and Palate, Oral Facial Cleft Study of Cleft Lip and Palate, Demographics and Medical History
Measure Protocols
| Protocol ID | Protocol Name |
|---|---|
| 80501 | Existence of Cleft Lip or Palate |
Publications
There are no publications listed for this protocol.