Livija's ASHG 1999 talk

1
Medical Conditions in Williams Syndrome

• The number of conditions present affects the
  occurrence and severity of the feeding disorder.
• Hypotonia and GI dysmotility are prevalent in the
  children identified with feeding problems.
• Cardiac conditions contribute to feeding
  difficulty

2
Feeding Problems Resulting from Hypotonia

• Poor postural stability
• Weak suck/swallow
• Decreased oral sensory awareness/drooling
• Low facial tone and strength for manipulation of
  puree
• Decreased strength and coordination for chewing
• Difficulty advancing food texture
• Field, Garland, Williams, May, 2002

3
Feeding Problems Resulting from GI
Dysmotility/Gastroesophageal Reflux

• Poor appetite
• Food refusal
• Limited interest in eating
• Inadequate oral intake
• Poor weight gain and growth
• Field, Garland, Williams, May, 2002

4
Twelve Month Old Female with Hypotonia

• Low oral/facial tone
• Poor liquid manipulation/oral containment
• Inefficient oral transit
• Drooling/saliva management
• Lengthy mealtimes
• Positioning

5
Ten Month Old Female with Food Refusal

• Slow weight gain
• Spitting out food
• Head turning, swatting at spoon
• Difficult mealtimes
• Parental anxiety and frustration

6
W.S. Infant s/p Cardiac Surgery

• Pharyngeal Dysphagia
• aspiration of liquid
• tube feeding
• oral aversion

7
Case History

• Medical History
• Williams syndrome
• Cardiovascular (aortic) repair
• Bilateral renal artery stenosis
• Gastroesophageal reflux
• Constipation
• Rapid breathing
• Hoarse vocal quality

• Feeding History
• Dysphagia
• Refusal of bottle drinking
• Feeding difficulty
• Increased congestion
• Discontinuation of liquid
• Decreased respiratory rate
• Improvement in vocal quality

8
Refusal of spoon
9
Thickened Liquid from Cup
10
Acceptance
11
Behavioral Feeding Problems.

• Develop as a result of learned negative
  association with eating
• Occur when the food texture presented is
  overwhelming for the child
• May be symptomatic of pharyngeal dysphagia/silent
  aspiration
• Occur following surgical procedures contributing
  to oral aversion
• Emerge when the demand to eat is perceived as
  intense
• Cause stress and anxiety for the parent/caregiver

12
Stressful mealtimes are reported by the majority
of parents of children with Williams Syndrome in
the first year of life in their attempts to
increase food intake and improve weight
gain. Feeding problems resolve by age four and
children with W.S. develop chewing skills and the
ability to eat table food. Low oral tone and
malocclusion continue to affect their ability to
chew hard solids.
13
Evaluation

• medical history/feeding history/growth
  pattern
• non-nutritive movement
• posture/overall tone
• oral/facial tone
• hunger/food seeking
• oral structures/intra-oral structures
• nutritive movement patterns
• feeding trial/meal observation

14
Treatment Goals

• Evaluate swallowing function and safety
• Improve oral motor coordination
• Increase swallowing efficiency
• Advance developmental food texture progression
• Establish acceptance and positive association
  with mealtimes

15
Mealtime Behavior

• Parent report/observation
• mealtime structure
• refusal behaviors
• seating/positioning
• utensils
• food texture/liquid

16
Treatment Strategies

• Implement recommendations of MBSS
• Jaw/cheek support during bottle drinking
• Specialized bottle/nipple systems
• Postural support during bottle drinking
• Adequate seating positioning
• Modifications in food texture and consistency
• Intensive behavioral treatment program

17
Conclusions

• Experience with Williams Syndrome has provided
  consistent information that emphasizes the need
  for
• Early diagnosis
• Comprehensive medical management
• Appropriate assessment and intervention of
  feeding and swallowing function