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Protocol - Existence of Cleft Lip or Palate

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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

Available

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 CategoryRequired
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
StandardNameIDSource
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 IDVariable DescriptiondbGaP Mapping
PX080501_Relative_Cleft_Lip_Palate
PX080501020100 Has any relative in your family been more
diagnosed with a cleft lip or palate? show less
Variable Mapping
PX080501_Relative_Cleft_Lip_Palate_Details
PX080501020200 (Has any relative in your family been more
diagnosed with a cleft lip or palate?) Details on who has the condition. show less
N/A
PX080501_Self_Cleft_Lip_Palate
PX080501010100 Have you been diagnosed with a cleft lip or more
palate? show less
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
Oral Health
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.