CHARGE Syndrome: Impact on Feeding, Swallowing and Communication

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CHARGE Syndrome Impact on Feeding, Swallowing
and Communication

• Julie Dick

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CHARGE ASSOCIATION

• C Coloboma
• H Heart defects
• A Atresia choanae
• R Retarded growth and development
• G Genital Anomalies
• E Ear anomalies and Deafness

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CLINICAL OUTCOMES
Feeding
Swallowing
Communication
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Participants

• From 1999 to 2003, consecutive infants with
  CHARGE syndrome
• Data from five children (4 male and 1 female)
• 1 month-8 months at in patient referral
• 2-6 years at time of audit study
• Diagnosed by a geneticist
• 2 children in group died at 15 and 12 months

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Procedure

• Clinical and radiological data
• Jointly reviewed by two Specialist SLTs
• Confidentiality of audit data strictly
  maintained.
• Clinical features, feeding, swallowing and
  communication outcomes
• Online Mendelian Inheritance in Man (OMIM) and
  Ovid Medline literature searches.

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Major and Minor Features of CHARGE in this
Audit Population and in the Literature
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Frequency of feeding related medical conditions
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Tracheostomy n-4

• All for airway management
• 3 ventilator support
• 3 lt 1 month old at placement
• 1 deceased 12 months
• 1 trache in situ at study
• 2 decannulated aged 2 and 5 years

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Feeding outcomes tube feeding

• Dobblesteyn et al 2005
• (n-5)
• 2 dependent tubegt4 years old
• 2 successful bottle feeders
• 4 safe with puree by 4 years
• 5 safe cup drinking by 4 years

• Audit Population
• (n-5)
• All dependent tube at 1 year old
• All unsuccessful bottle feeders
• 3 early G- tube placement
• 1 deceased
• 2 aspirate and tube dependent
• 2 early ng-tube placement
• 1 deceased 15 months
• 1 full oral feeding by 16 months

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Severe subgroup of wider phenotypic spectrum
High Surgical needs
Poor Medical Outcome
High Medical needs
Poor Feeding Outcome
Tube dependency
Cup drinking and puree
High morbidity and mortality
Bottle feeding
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Swallowing outcomes

• Penetration Aspiration Scale (P/A) (Rosenbek et
  al. 1996)
• Royal Hospital Dysphagia Risk Score (DRS)
• (Horner 1992 and Logemann 1995)
• duration of swallow delay
• site of the bolus at swallow trigger
• extent of post-swallow residue.

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Swallowing dysfunction the audit population
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Prevalence of swallow difficulties reported in
this audit population and the literature
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Communication Outcomes n-3

• 3 children linguistic period
• All moderate- profound bilateral hearing loss
• None extensive retinal bilateral coloboma
• No microcephaly
• Thelin and Fussner 2005
• Successful amplification
• Independent walking
• Communication training by 3 years

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Factors related to the development of symbolic
language outcomes
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Factors related to the development of symbolic
language outcomes

• Intellectual outcome and language development not
  influenced by severe neonatal medical history,
  poor respiratory status, tracheostomy, tube
  feeding and / or cardiac surgery (Raqbi et al.
  2003)
• Blake et al. 1998 children with CHARGE can excel
  once mobility and an effective communication
  system are established
• 2/ 3 children had total communication programmes,
  speaking valves, and auditory rehabilitation
  programmes introduced between 6 months and 9
  months old
• Symbolic language developed with receptive and
  expressive delay of 6 18 months and 12 24
  months respectively.

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Aim of the Audit Study

• To enhance acute Speech and Language therapy
  care of infants and young children with CHARGE
  syndrome by providing a fuller understanding of
  feeding, swallowing and communication outcomes
  for families and professionals.

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Clinical practice guidelines

• Clinical feeding evaluation detailing cranial
  nerve function
• Objective swallowing evaluation
• early investigation and management of
  gastroesophageal reflux disease
• Speaking valve assessment to optimise
  opportunities for active interaction with
  environment
• Parental communication training programmes
• Total communication programmes
• Cause of death is included in the patient notes

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Limitations and Future Directions

• Not reflective of the wide spectrum of this
  multiple anomaly and multi-sensory condition
• Limited by the specificity of the cases
  encountered and the duration of our clinical
  contact
• A multi centred prospective audit and evaluation
  with stratified age sampling
• voice and vocal cord function for speech and
  swallowing in older children