Title of the case study: Becoming effective in communication – a child with CHARGE syndrome
1. General data on the case:
– Biographical and case identification data
The case is a female, 11 years old, 2nd gestation, 2nd birth – planned and accompanied pregnancy. Antenatal ultrasound showed hydronephrosis and heart disease. Birth occurred at 38 weeks + 6 days, caesarean delivery. Apgar scale: 9-10-10. Weight at birth: 3610g. At birth she was submitted to valvuloplasty for the correction of severe pulmonary stenosis. She also presented right unilateral peripherical facial palsy. Feeding: exclusive breastfeeding until 15th days of age and exclusive formula feeding until 5 months of age. Food diversification was introduced at 6 months with soup.
Psycho-motor development: Delayed psychomotor development.
Surgical interventions: valvuloplasty at 10 days, adenotonsillectomy and myringotomy with tube insertion at 3 years old.
National vaccination programme updated according to the norms.
No consanguinity. Father (1974), healthy, high school in education, self-employed. Mother (1979), healthy, high school in education, self-employed. No deafness cases in family.
– Case history (Anamnesis):
– Significant medical data
Diagnosis: Syndromic hearing loss and deafness: CHARGE syndrome.
The child was observed in Otolaryngology consultation, at 21 months of age for suspected deafness. She had a prenatal diagnosis of congenital heart disease and bilateral hydronephrosis. Right peripheral facial paralysis and hypoplasia of the right ear were detected at birth. She was diagnosed with CHARGE syndrome (delayed psychomotor development, pulmonary stenosis with valvuloplasty, hydronephrosis, right peripheral facial paralysis, bilateral transverse palmar fold, hypoplasia of the right ear. MRI revealed agenesis of the VII cranial nerve, left VIII hypoplasia and hypoplasia of the posterior labyrinth more pronounced on the right. Auditory evoked potentials revealed with severe to profound bilateral deafness.
Cranial MRI revealed agenesis of the VII pair, left VIII hypoplasia and CT scan revealed agenesis of the lateral semicircular canals and hypoplasia of the posterior and superior.
– Significant psychological data
The child had speech and language therapy “since she was a baby”. At 5 years and 3 months of age, she had been wearing hearing aids for a month and a half, with limited results in the high frequencies; she had speech and language therapy twice a week (the SLT’s report indicated that the privileged mean of communication was Makaton signs and speech); she had a normal sounding voice, a severe speech and language delay and very limited speech intelligibility.
At 5 years and 8 months of age, her hearing deteriorated; parents considered that her language had also deteriorated, due to the hearing situation.
At present (11 years old), she can follow a conversation without visual clues, if it is conducted in a slow pace with vocabulary that she knows; she uses the phone to speak with family members and friends; she uses sign language to communicate mostly at school.
- Educational setting: special education, unit in mainstreamed school, full mainstreaming.
At 5 years and 3 months of age, she attended a mainstream kindergarten.
At 6 years and 0 months of age, she started attending a school for the deaf.
- Significant social data – socio-economic and cultural conditions of the family, belonging to disadvantaged social environments, multilingual environments, etc.
Middle-class family; parents very involved and always searching for information; monolingual environment.
– Age of fitting the first hearing aids and cochlear implants
Hearing aids fitted at 5 years and 1 month.
Cochlear implant was first programmed at 5 years and 10 months.
– How often and what kind of support/rehabilitation does the child/family receive? At present, she attends 5th grade in a school for the deaf, where she has speech and language therapy (twice a week), special education and sign language.
3. The implantation
- age of undergoing first cochlear implantation (left or right side: at 5 years and 9 months of age.
- Type of implant: CI 24 RE (contour advance). At the beginning, she was provided with a nucleus 5 sound processor but it was difficult to adapt due to right ear hypoplasia. As soon as possible it was replaced by a sound processor off the ear – Kanso.
- number of implants (CI and hearing aids): CI in the right ear
- current average duration of the CI use (information from the audiologists)
- other relevant information: difficult periods during early-stage development.
4. What is the procedure to start the speech therapy after CI?
At 5 years and 10 months old, she started speech and language therapy, on the same day as the first mapping; intensive speech and language therapy, 4 days a week, at the implant center.
5. The Speech Therapy used in the rehabilitation
The child had speech and language therapy “since she was a baby”, twice a week until cochlear implantation. After CI activation (at 5 years and 10 months old), intensive speech and language therapy, 4 days a week, at the implant center, for 2 months. At 6 years and 0 months, she had speech and language therapy twice a week at a school for the deaf (where she also had special education and sign language). At 6 years and 4 months, intensive speech and language therapy, 5 days a week, at a Physical medicine and rehabilitation centre, for 1 month, (focus on the neuromotor rehabilitation of the facial structures) where she also had physiotherapy and occupational therapy. After that, she resumed the speech and language therapy twice a week at a school for the deaf (where she also had special education and sign language).
- frequency and duration of therapy: The child continues to have speech and language therapy twice a week at a school for the deaf.
- listening development: good adaptation to the CI; the child is interested in sounds and motivated to learn from early on. At 2 months of CI use, identification of 6 ling sounds, MAIS questionnaire 36/40; MUSS questionnaire 36/40. At present, she can follow a conversation without visual clues, if it is conducted at a slow pace with vocabulary that she knows; she uses the phone to speak with family members and friends.
- speech production development: speech production development was severely affected by the facial paralysis; sign language use was very important for this child to cope with the intelligibility issues that caused great feelings of frustration, since talking and signing increased her communicative success; at present, she presents relatively good speech intelligibility, being understood in almost all situations
- spoken language development:
- At 2 months of CI use, MUSS questionnaire 36/40.
- A big leap in language development was observed about one year after cochlear implantation. At present, spoken language maintains gap regarding what is expected for her chronological age.
- Spoken language supported by signs or other visual cues? Use of sign language? (if any)
In all settings, spoken language comprehension is supported by lip reading; it is supported by signs mostly in the school setting. When using signs to communicate, she also always uses spoken language; spoken language is her preferred means of communication.
Monitoring of the progress in auditory, speech and spoken language development: The auditory, speech and spoken language development were monitored at the CI centre at regular intervals; parental feedback is considered very important, as well as parental empowerment; use of validated instruments whenever possible; speech and spoken language evaluated with instruments developed and validated for the oral language, but not specific for children with hearing loss.
Child’s cognitive development
Access to different types of intervention, that completed each other
Hearing technology use started late
Psychological factors that are now arising in these pre-teen years (self-esteem and self-acceptance)