Fandom

Psychology Wiki

Genetic counseling: Pierre Robin Sequence - Cleft Palate

34,203pages on
this wiki
Add New Page
Talk0 Share

Assessment | Biopsychology | Comparative | Cognitive | Developmental | Language | Individual differences | Personality | Philosophy | Social |
Methods | Statistics | Clinical | Educational | Industrial | Professional items | World psychology |

Clinical: Approaches · Group therapy · Techniques · Types of problem · Areas of specialism · Taxonomies · Therapeutic issues · Modes of delivery · Model translation project · Personal experiences ·


Pierre Robin Sequence - Cleft Palate

ContractingEdit

  • Welcome back and introductions
  • Elicit parents main concerns
  • Give overview of session agenda

Medical History:

  • Trach - Any complications?
  • Feeding - How is it going?
  • Any recent illnesses, etc?

EtiologyEdit

  • Primary defect - hypoplasia/ retrognathia of the mandibular area
    • Prior to 9th week of embryologic development
  • Tongue is then posteriorly located
  • Palatal shelves can not close properly
    • Posterior region must grow over the tongue to midline
    • Results in U-shaped cleft

Mode of inheritanceEdit

  • Most cases are sporadic
  • Familial cases have been reported
  • X-linked and AD modes have also been suggested

IncidenceEdit

  • 1:30,000 live births
  • Recurrence risk of CP: 3-5 % (jumps to 10-15% of 2nd child born with cleft)

Clinical FeaturesEdit

(Classic Triad = micrognathia, CP & glossoptosis)

  • Micrognathia
  • Cleft Palate (U-shaped)
  • Glossoptosis/ Macroglossia
    • Tongues falls backward and downwards
    • Airway obstruction
  • Feeding problems
  • May also have:
    • Ocular abnormalities (esotropia, congenital glaucoma)
    • Cardiac anomolies (ASD, PDA, VSD)
    • Some ear and skeletal defects have been reported

Natural history and life spanEdit

  • 30% mortality
  • Prognosis good if they survive the respiratory issues
  • Small jaw usually grows out during first two years
  • Chromic ear infections may cause conductive hearing loss

TestingEdit

  • Prenatal diagnosis:
    • Not yet reliable
    • Level II ultrasound at 18-20 weeks

Surveillance, management and treatment optionsEdit

  • Airway obstruction
    • Affected children should be monitored closely hypoxia and apnea
    • Nurse children in the prone position
    • Surgery to improve breathing (glossopexy or tracheostomy)
  • Cleft Palate
    • Feeding: use soft nipple with wide opening or squeeze bottle
    • Surgery to repair cleft (9-18 mos)
    • Ear infections: PE tubes
  • Work up should include: genetics consult, ophthalmologic eval, hearing eval, ENT eval, speech tx, and orthodontic eval

Differential diagnosesEdit

  • Associated with numerous syndromes
  • trisomy 18
    • feeble cry, polyhydramnios with small placenta, renal and cardiac abnormalities, short palbebral fissures
  • Stickler syndrome
    • Up to 30% - 40%
    • Includes micrognathia, maxillary hypoplasia, epicanthal fols, depressed nasal bridge, hypotonia, hyperextensible joints, myopia, cataracts, retinal detachment
  • VCFS
    • Up to 15%
  • Cryptorchidism
    • Includes small mouth and mandible, overlapping 3rd and 5th digits, hypoplasia of nails, scissoring of limbs

Support groups, financial and educational resourcesEdit

  • Pierre Robin Network (www.pierrerobin.org) - internet support group of parents
  • Wide Smiles, Inc. (www.widesmiles.org) - lots of info for parents
  • The Cleft Palate Foundation (CPF) (www.cleftline.org) or 1-800-24-CLEFT (24 hrs)

Psychosocial AssessmentEdit

  • How is BCMH working for you? And Early Intervention?
  • Any problems managing pt's care?
  • Nursing at home?
  • How have you been coping?
  • Do you have any support/ family in the area?

ReferencesEdit

  • Smith's Recognizable patterns of Human Malformation, 5th Edition
  • Developmental Defects and Syndromes
  • The National Craniofacial Association (www.faces-cranio.org/Disord/PierreRobin.htm)
  • Neonatology on the Web (www.neonatology.org/syllabus/pierre.robin.html)

NotesEdit

The information in this outline was last updated in June 2003.


This material has been imported fom the wikibook "Genetic counseling"[ http://en.wikibooks.org/wiki/Genetic_counseling] under the GNU Free Documentation License.

Heckert GNU white Permission is granted to copy, distribute and/or modify this document under the terms of the GNU Free Documentation License, Version 1.2 or any later version published by the Free Software Foundation; with no Invariant Sections, no Front-Cover Texts, and no Back-Cover Texts. A copy of the license is included in the section entitled "GNU Free Documentation License."

Ad blocker interference detected!


Wikia is a free-to-use site that makes money from advertising. We have a modified experience for viewers using ad blockers

Wikia is not accessible if you’ve made further modifications. Remove the custom ad blocker rule(s) and the page will load as expected.

Also on Fandom

Random Wiki