Cornelia de Lange DSW 208 presentation


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Cornelia de Lange Presentation 2013 DSW 208 Presentation

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Cornelia de Lange DSW 208 presentation

  1. 1. Cornelia De Lange Syndrome with Cleft Lip and Palate By: Amanda Simard, Jenny Durno & Tiffani Roberts
  2. 2. About the Syndrome Cornelia de Lange Syndrome (CdLS) is a GENETIC DISORDER! Causes a range of cognitive, physical and medical challenges – AFFECTS ALL AGES & GENDERS Prevalence: 1 in 10,000 live births therefore, RARE!
  3. 3. Health Challenges Facial Features: thin eyebrows with high arches, long eyelashes, short upturned nose, thin downturned lips, lowset ears, cleft palate, mostly short & under-weight, small head Most have developmental delay: ranging mild – severe Health Concerns: Gastro-esophageal Reflux Disease (GERD), eating disorders related to cleft lip and palate Behavioural Concerns: self-injury, compulsive repetition, autistic-like behaviours.
  4. 4. Causes Genes : NIPBL, SMC1A, SMC3 NIPBL (Common) , SMC1A & SMC3 (Less Common) Proteins from genes listed having important roles regarding development before birth – regulates structure & organization of chromosomes Caused by disrupting gene regulation during stages of early development but distinct cause is UNKNOWN
  5. 5. Signs and Symptoms Includes Excessive body hair Unusually small head Hearing loss Short stature Digestive tract problems Seizures Heart Defects Eye problems Skeletal Abnormalities
  6. 6. Detection & Diagnosis Diagnosis : clinical based observed with evaluation from physicians; involving med. history, examinations, lab tests Not everyone is positive for CdLS  approx. 40% do not. Detection: blood tests – looking at chromosome and gene patterns Prenatally : ultrasound at 18 weeks
  7. 7. Treatment & Intervention Early Intervention  patients with feeding problems, hearing/vision impairment, heart disease, urinary abnormalities Intervention: Psychomotor Delay  computer programs  helps with visual memory, perception, tactile stimulation, fine motor Surgery needed for: cleft lip & palate, nasal polyps, GERD, pyloric stenosis, intestinal malrotation/volvulus, undescended testis, lacrimal duct stenosis, hip dislocations
  8. 8. Medications Drug Therapy : NOT A PROTOCOL EXCEPT FOR: clinically indicated situations like seizures, GERD, behavioural symptoms
  9. 9. CLEFT LIP & PALATE Cleft - Split or Separation Palate - roof of mouth Typically: tissues form upper lip and palate grow from both sides, then fuse/join together Babies with Cleft Lip/Palate: fusion did not occur, leaving a gap or cleft Prevalence: 1 in 700 babies Most common birth defect affecting the face Associated with 400+ conditions/genetic syndromes Bilateral – both sides of face affected Unilateral – single side of face affected Common in Asian descent & American Indians
  10. 10. CLEFT LIP & PALATE (cont.) Cause: Not clear but may be inherited 13- 30% of babies have additional birth defects After birth: examination by paediatrician/specialist May require treatment from cosmetic surgery Needs to be corrected to solve other issues like hearing/ear infections, speech development issues, feeding/growth development, teeth eruption Women can take preventative steps, as well as other birth defects, like avoiding alcohol/drugs
  11. 11. Impact on Family and Individual Having a child with CdLS can mean a lot for a family. One of the defining factors is that the child would look differently from other children due to their distinct facial features and especially the cleft lip and palate. For families who are either in denial or have a hard time accepting their child having a developmental disability, this can be especially hard when they think that people are constantly staring. Girl with CdLS   Boy with Cleft Lip
  12. 12. Having a child with a developmental delay, families need to find supports to fit their severity and seeing how CdLS can range from mild to severe, families need to find the right supports. The support being received needs to be effective but this may be costly and families may be negatively impacted financially.
  13. 13. Because of the behavioral issues and self-injury associated with CdLS, this can be stressful on a family because they would need to constantly monitor the severity of the SIB so make sure they are not an immediate danger to themselves. The SIB affects the individual because they are creating damage to their bodies and can result in further complications such as infection or scarring.
  14. 14. Having a cleft palate in general can affect the individual because it makes it hard for them to eat. The individual would have to go through multiple surgeries to correct their lip. This impacts the family because they have to see their family member going through these issues and there's always the chance that the person may not survive the surgery.
  15. 15. Services and Supports Genetic Counseling Speech therapy or augmentative communication Pharmacotherapy Behavior management Management of GERD through diet and medication Possibility of surgery for a G-tube
  16. 16. Roles Of A DSW Create a positive support network Educate others about the syndrome Familiarize themselves with the syndrome and the health concerns surrounding it Access supports and services for this syndrome
  17. 17. Supports & Services CdLS Foundation The CdLS Foundation provides families and support workers information and services and most of them are free The CdLS Foundation has a lot of services and support for families and individuals What they provide: - A Toll-Free Number - Family Gatherings - Publications - Multidisciplinary Clinics - Ask Experts - Connect with Family - Family Album
  18. 18. CdLS Association Family support organization Early diagnosis Promotes research on the cause Helps others with similar characteristics Helps with decision making
  19. 19. References Brown, I. & Percy M. (2011). Developmental disabilities in Ontario (3rd ed.). Toronto , ON: Ontario Association on Developmental Disabilities California Department of Public Health. (2009). Cleft Lip/Cleft Palate. Retrieved from: Cornelia de Lange Syndrome Foundation, Inc. (2010). What Is CdLS. Retrieved from: Cornelia de Lange Syndrome Foundation, Inc. (2010). Characteristics of CdLS. Retrieved from: Cornelia de Lange Syndrome Foundation, Inc. (2010). Diagnosis of CdLS. Retrieved from: Genetics Home Reference. (2013, October 21). Cornelia de Lange Syndrome. Retrieved from: Mandal, D. A. (n.d.). What is cleft lip and palate? Retrieved from: Tekin, M. (2013, May 29). Cornelia De Lange Syndrome Treatment & Management. Retrieved from: