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Genetic counseling: Cleft Palate - Pierre Robin Sequence-1

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Cleft Palate - Pierre Robin Sequence

ContractingEdit

  • Introduction
  • Do you have any concerns or questions you would like us to address?
  • Address any immediate concerns
  • Discuss reasons for being followed by genetics
  • Discuss how the genetics visit will include
    • Asking some standard questions about his health
    • Reviewing the family history
    • Tricia will discuss feeding issues and do a physical exam
    • Reviewing what we believe to be the reason for the problems he's experienced
    • We want to help make sure that you have all the resources and support possible

Interim HistoryEdit

Family HistoryEdit

Psychosocial AssessmentEdit

Cleft PalateEdit

  • Prevalence 1:2000 live births
  • More likely to be associated with a syndrome than cleft lip with or without cleft palate
  • At Super Duper Medical Center craniofacial team about 55% of children seen with cleft palate have underlying syndrome

EtiologyEdit

  • Can be part of a sequence or syndrome
  • Sequence - anomaly or pattern of anomalies that arise from a single known or presumed anomaly or mechanical factor (usually known sequence of events with one thing that triggered it)
  • Syndrome - often due to an underlying genetic explanation or a common suspected cause for anomalies that are often associated with each other (often the characteristics are variable and often have multiple primary defects)

Pierre Robin SequenceEdit

  • Common cause of cleft palate (horseshoe shaped)
  • Associated with an underlying syndrome in over 50% of cases
  • Can occur in isolation
  • Not a diagnosis, but more of a description of the pathogenesis of cleft palate
  • Small jaw (micrognathia) due to interference of normal development of jaw at 9 wks
  • Forces tongue to remain high and tongue gets in the way and keeps the palate or roof of the mouth from closing off completely

Characteristics in Pierre RobinEdit

  • Often born with tongues positioned posteriorly
  • Can cause blockage of pharynx and airway (glossoptosis)
  • Affects feeding and breathing

Medical ManagementEdit

  • Place in prone position so gravity allows tongue to fall forward
  • Sometimes require nasopharyngeal airway (sometimes needed until 3-4 mths old)
  • Some require tracheostomy (tube directly in trachea to bypass upper airway obstruction
  • Usually in place until palate repair (about 14 mths ?)
  • Prevents most vocalizations which can exacerbate speech issues in future
  • Feeding difficulty occurs in most cases - difficulty coordinating breathing, sucking, swallowing
  • May require nasogastric tube for feeding or a gastrostomy tube (g tube)
    • FOR SYNDROMES ASSOCIATED WITH PIERRE ROBIN ALSO SEE CHARTS ATTACHED

Stickler Syndrome (possible differential)Edit

  • Most common identifiable cause cleft palate
  • AD disorder variable expressivity
  • Heterogeneous
  • At least 4 genes can cause
  • Diagnosis made clinically

Classic PhenotypeEdit

  • Pierre Robin Sequence
  • Cleft palate
  • Early onset osteoarthritis
  • Myopia -- Can be severe most mod to high
  • High risk for retinal detachments (follow close)
  • Sensorineural hearing loss common (follow with serial audiograms)
  • Facial Features
    • Micrognathia in infancy
    • Flat facial profile
    • Epicanthal folds
    • Midface hypoplasia
  • Development usually typical
  • No increased risk for LD
  • Problems related to cleft, hearing loss, tracheostomy

VCF (probably not as likely of a differential)Edit

  • 1 in 4000 live births
  • deletion 22q11 in 90% of patients diagnosed
  • most new deletions but 10-20% have affected parent
  • highly variable characteristics
    • most common --VPI
    • second most common - cleft palate
    • associated with Pierre Robin Sequence
    • congenital heart defects most commonly conotruncal
  • facial characteristics
    • microcephaly
    • narrow palpebral fissures
    • wide nasal root
    • bulbous nasal tip
    • thin upper lip
    • long face
    • micrognathia
  • many possible medical problems
  • developmental disabilities

Recurrance RisksEdit

  • Vary depending on the diagnosis
  • Pierre Robin Sequence 1-5% recurrence (ref #3)
  • What do you and Dr. Saal quote?
  • Stickler and VCF if new mutation than small risk probably 1%?
  • If parent affected than 50% recurrence

Support Group and Patient Info.Edit

ReferencesEdit

NotesEdit

The information in this outline was last updated in 2002.


Material obtained under GFDL Licence from http://en.wikibooks.org/wiki/Handbook_of_Genetic_Counseling

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."

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