Info from Gwen

CASE STUDY - NICU patient "Darcy," Treacher Collins Syndrome

Darcy was born at 38 weeks gestational age. She weighed 2,731 grams (slightly over 6 pounds). As soon as she was stablized she was transferred to the NICU at Children's Hospital Oakland. She was diagnosed with Treacher Collins syndrome (mandiblofacial dysostosis). Darcy was given an NG tube for feeding and was seen initially by the SLP at one day of age.

ORAL-MOTOR EXAMINATION:

• Treacher Collins facies (including malar hypoplasia, pronounced micrognathia, shallow palate with alveolar cleft, bilateral microtia, lower eyelid coloboma, and slanting palpebral fissures).
  
• Cranial nerve function was intact
  
• All neonatal reflexes present, but suck reflex was weak
  
• Saliva was normal consistency but greater than average quantity
  
• In resting position, the tongue moved posteriorly and obstructed the pharynx, worse in supine position due to the pull of gravity—this also caused intermittent stridor
  

  
  

  SPEECH THERAPY GOALS:
  

1. Oral feeding when doctor's orders allow, with appropriate nipple for alveolar cleft
   
2. Strengthened suck reflex
   
3. Minimized difficulties posed by tongue retraction and pooling of saliva
   
4. Decreased hypersensitivity of orofacial region (this frequently occurs in the NICU due to the imposition of tubes and tape around the mouth/nose/cheeks)
   

   
   

   TREATMENT:
   

5. The SLP found that a soft cross-cut bottle nipple was most effective. At first small amounts of formula were presented with this nipple attached to a preemie bottle. This amount was increased steadily for two days; by Darcy's 4^th day of life the NG tube was removed and she was fed orally.
   
6. In order to strengthen the suck reflex, first the SLP provided facilitory stimulation to the tongue for alerting, lingual curling, elongation, and tongue tip elevation. When the sensory receptors were primed, the SLP introduced a nipple to the tongue in a facilitory manner, pressing down and tapping, and would gently "tease" the tongue (i.e. intermittent tactile stimulation) as it began to move into sucking position and then suck.
   
7. The SLP and OT worked together to find the optimal positioning for Darcy. It turned out that sidelying with the head of the isolette raised up 25 degrees worked best. Her tongue did not block the larynx, which decreased her stridor, and her saliva would come out of the side of her mouth rather than remaining inside and creating a risk for aspiration. They recommended that the nursing staff turn Darcy from one side to the other at least one time per hour.
   
8. Inhibitory techniques were used to desensitize Darcy's cheeks/nose/lips/mouth. These included firm, continuous pressure and slow stroking in the direction of the muscle fibers. In the mouth, the SLP would move a steady, gloved finger around the top gums, the bottom gums, and finally the alveolar area. Pressure was applied on her tongue inferiorly and laterally.
   

(photo from movie "Unmasked: Treacher Collins Syndrome" Figure 8 Films, 2004; http://www.figure8films.tv/shows/tcs.htm)

CASE STUDY – NICU patient "D'Shawn," Harlequin Ichthyosis

D'Shawn was born at 35 weeks gestational age. He weighed 1,377 grams (3.6 pounds). As soon as he was stablized he was transferred to the NICU at Children's Hospital Oakland. He was diagnosed with Harlequin Ichthyosis (Ichthyosis Fetalis). The SLP evaluated D'Shawn the afternoon of his arrival. As the first step in the evaluation, she familiarized herself with Harlequin Ichthyosis, as she had never treated a patient with this diagnosis before.

HARLEQUIN ICHTHYOSIS

• A condition of extreme hyperkeratinization of the skin (the body produces as many skin cells in a day as non-affected persons do in two weeks, resulting in shiny hyperkeratotic scales with deep fissures between the scales)
  
• Tightness of the skin causes:
  
  • Flexion contractions of the extremities
    
  • Ectropion (everted eyelids) and sometimes exophthalmia (anterior bulging of eyes), with eyes susceptible to bleeding
    
  • Eclabium (everted lips) fixed in an open, stretched position
    
• The ineffective skin barrier presents a number of serious problems, including:
  
  • Trouble regulating temperature (inability to sweat; tendency for hyperthermia)
    
  • Electrolyte abnormalities
    
  • Dehydration due to excessive loss of water (and tachycardia from the dehydration)
    
  • High risk of sepsis
    
• Other common sequelae
  
  • Absent or underdeveloped pinnae
    
  • Underdeveloped nose
    
  • Polydactyly
    
• Medication
  
  • Isotretinoin -- given orally; increases pliability of skin; among other benefits this may strengthen ability to suck
    
  • Acitretin – decreases hyperkeratosis, ectropion, and eclabium; side effect of increasing dryness of mucosa
    
• Until recent years, harlequin ichthyosis was always fatal. Now medications and NICU care allow some of these children to survive beyond infancy and even, occasionally, into adolescence or adulthood.
  

ORAL MOTOR EXAMINATION

Due to priority of medical need to stabilize D'Shawn, only a limited oral motor exam was possible.

• Inability to close or move lips
  
• Oral dryness
  
• Limited tongue movement in all directions
  

ADDITIONAL MEDICAL INFORMATION

• Intervenous tube for medication/hydration/nutrition through umbilical cannulation
  
• Must remain in humidified incubator at all times
  
• D'Shawn's mother expressed strong desire to eventually breastfeed if possible
  

  
  

SPEECH THERAPY GOALS

• Increased movement of lips and tongue as eclabium decreases, including ability to maintain lip closure
  
• Increased suckle and suck abilities
  
• Ability to tolerate sensory stimulation to orofacial area
  
• Ability to breastfeed if possible
  

  
  

TREATMENT

• As Acitretin began to improve eclabium, the SLP applied sterile wet compresses and petroleum jelly to lips and began gentle facilitation of lip movement. Within three days, D'Shawn was able to maintain lip closure; within five days he
  

  
  

  
  

  (photo from Extraordinary Children, http://www.mymultiplesclerosis.co.uk/misc/harlequin.html )