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Cleft Lip and Palate
Transcript of Cleft Lip and Palate
2. Cleft lip with or without cleft palate (CL/P) or isolated cleft palate (CP). Associated Syndromes. Additional assessment and testing needed: A guide to understanding more than what is immediately visible. Cleft Lip
and Cleft Palate Severity Varies greatly from child to child.
Mild: involving only the lip
Moderate: extending into the palate
Severe: lip, palate, and midface. Can affect the nose, forehead, eyes, and brain. Cleft Palate Lack of fusion of the palatal shelves.
Isolated disruption of palate shelves can occur after closure of the lip.
Palatal closure is not completed until 9 weeks post-conception. Cleft Lip/Palate United States :
Estimated prevalence of orofacial clefts is 16.9/10,000 live births.
CL/P occurred in 10.5/10,000 live births.
Isolated CP occurred in 6.4/10,000 live births .
Cleft lip with or without cleft palate is 4,437 annually in US according to NIDCR. Environment Clefting is a genetically complex event and orofacial clefting is noted in over 300 syndromes.
2 to 20 genes are thought to interact to result in facial clefting. Closure of lip at 7 weeks post conception.
Palate at 9 weeks post conception. Direct the destination of the distal skeletogenic mesenchyme elements to the palate.
Mutations of these genes result in isolated palatal defects. Dlx gene Sonic hedgehog gene Mediates ectodermal functions. Believed to regulate the outgrowth and fusion of the facial domains. TGF-alpha variant Usually a rare variant of TGF-alpha. Significant because this variant is typical in families that have a history of cleft defects.
There is also an additive teratogenic effect with agents such as cigarette smoking and alcohol. TGF-beta-3 gene Expressed just prior to palatal fusion.
Results in isolated cleft palate. IRF 6 Identified in autosomal dominant van der Woude syndrome. DeGeorge syndrome Deletion of chromosome 22q11.
Cardiac defects, thymic hypoplasia, and velopharyngeal webs. X-linked dominant syndromes Manifestations in affected females are variable and subtle: cleft tongue, left lip/palate, digital anomalies.
Lethal in males. May be linked to cyctic renal disease. A) Radiograph of both hands showing short metacarpals and phalanges
B) radiograph of both feet showing short metatarsals and phalanges. Treacher-Collins
syndrome Autosomal dominant disorder.
Downward slanting palpebral fissures, micrognathia, dysplastic ears, and deafness.
Mental development is normal.
The mutations appear to increase cell death in the prefusion neural folds Environmental Factors Growing into healthy, happy adults. Epidemiological Issues More common and varies by ethnicity.
High in American Indians and Asians (1/500 newborns)
Intermediate level in Caucasians (1/1000 newborns)
Low in American blacks (1/2000 newborns) Health Promotion 1. Prenatal care and prevention
2. Genetic counseling referral
3. Facilitating post-natal planning
4. Screening for other
abnormalities and associated syndromes Impact on Family Intervention Strategies The Practitioner's Role: Medications —phenytoin, sodium valproate, methotrexate.
Cigarette Smoking - teratogenesis has been attributed to hypoxia as well as a component of tobacco (cadmium).
Alcohol - Alterations in cell membrane fluidity or reduced activity of specific enzymes.
Folate deficiency - Contributes to a range of birth defects. Evidence is emerging for a similar association with the development of CL/P. Isolated Cleft Palate About 30 percent of all clefts
All racial groups have similar risk
Occurs more often in female children 1. Initial diagnosis
2. Pictures and announcing arrival
4. Picking a team
6. Hearing and speech concerns
7. Involvement of siblings
Infant should be brought to the parents as soon the mother and the infant are in satisfactory condition.
Have a family meeting with both parents present.
The baby should be present when the defect is explained.
Allow the parents ask questions about the infant.
Emphasize the normal healthy features of the baby.
Educate on feeding techniques and avoiding complications. Pictures 1. Before and After Pictures
2. Pictures of child with cleft visible and pictures without cleft visible. http://seraph.cchmc.org/MediasiteEX/Viewer/?peid=ba334dc5-be42-4cca-9a26-cc76fb17ec44 Real Family Outcomes: Feeding Haberman Feeder Very challenging. Encourage several caregivers to be trained in feeding child. 1. Lip surgery first few weeks of life.
2. Palate repair between 16 and 18 months of age.
3. Older child may under go bone grafting and braces. Tom Brokaw
Joaquin Phoenix Screening, Diagnosis, Referrals, and Continued Care Recognize the Child's needs and risks: 1. Increased risk of AOM
2. Hearing Testing
3. Speech and Language
4. Family Support Genetic Etiology Test Yourself: 1. A newborn is found to have a cleft lip and palate. Which of the following is true:
a) the mother must have been using alcohol and drugs because there are no genetic components to CL/P.
b) The practitioner should do a thorough assessment to rule out other abnormalities associated with genetic syndromes.
c) The face will heal on its own and surgery is not recommended.
d) African American children have the highest incident. b) The practitioner should do a thorough assessment to rule out other abnormalities associated with genetic syndromes. why? 2. A parent of a child with a cleft lip and palate is worried about their child being able to learn how to speak. The practitioner correctly states all of the following EXCEPT:
a) 80% of patients develop typical speech once their palate is repaired.
b) Children with this condition tend to develop speech and language a bit more slowly.
c) Are at an increased risk for speech delays.
d) Should be evaluated for the first time by a speech pathologist at age 5. Criteria for first surgery:
1. Steady weight gain
2. Screened for other heath problems
3. Healthy enough to undergo general anesthesia. 1. 80% of patients develop typical speech once their palate is repaired
2. Tend to develop speech and language a bit more slowly
3. Are at an increased risk for speech delays
4. Should be evaluated for the first time by a speech pathologist between 3 to 6 months of age. d) Should be evaluated for the first time by a speech pathologist at age 5. Why is this wrong? What should be encouraged instead? References Blum, E. (2007). Cleft Lip and Palate. Retreived from www.slideworld.com/.../cleft-lip-and-cleft-palate-ppt-2768446Cleft Palate Pictures. (2012).
Cleft Palate Foundation (2005). Fact Sheet: For parents of newborn babies with cleft lip/ cleft palate. Retreived from http://cleftline.org/docs/PDF_Factsheets/For_Parents_of_Newborns.pdf
Crowley, L., Gist, L., Gregson, M., Hufnagle, K., Falzone, S., Smythe, N., &Trivelpiece, R. (2010). Cleft Palate Foundation:Your baby’s first year. Retreived from http://cleftline.org/docs/Booklets/FYL-01.pdf
Diseases Pictures. Retrieved from http://diseasespictures.com/cleft-palate-pictures/
Google Image Search. (2013). Cleft Palate Images.
Hay,W., et al. (2012). Current diagnosis & treatment Pediatrics (21th ed.). New York, NY: McGraw-Hill.Ritz, B., &
Wilhelm, M. (2008). Fetal development and timing of air pollution risks. Retreived from http://www.environment.ucla.edu/reportcard/article.asp?parentid=1700
Wilkins-Haug, L. (2013). Etiology, prenatal diagnosis, obstetrical management, and recurrence of orofacial clefts. In Firth, H., & Levine, D., UpToDate. Retreived from http://www.uptodate.com.erl.lib.byu.edu/contents/etiology-prenatal-diagnosis-obstetrical-management-and-recurrence-of-orofacial-clefts?source=search_result&search=cleft+palate&selectedTitle=1~140
Willadsen, E. (2012). Influence of timing of hard palate repair in a two-stage procedure on early speech development in danish children with cleft palate. Cleft Palate-Craniofacial Journal, 49(5), 574-595. doi: http://dx.doi.org.erl.lib.byu.edu/10.1597/09-120 Anticipatory Guidance: (UpToDate, 2013) (Mayo Foundation for medical education and research, 2013) (Google Images: Cleft Lip and Palate, 2013) Google Images: Cleft Lip and Palate diseasesimages.com (Wilhelm, W., 2008) (UpToDate, 2013) (UptoDate, 2013) (Ritz, B., & Wilhelm, M., 2008) (Blum, 2007) (Blum, 2007) (Blum, 2007) (UpToDate, 2013) Google Images (Blum, 2007) (Crowley, 2010) (Blum, 2007) (Cleft Palate Foundation, 2005) (Cleft Palate Foundation, 2005) (Cleft Palate Foundation, 2005) (Cleft Palate Foundation, 2005) Intervention Strategies