Joubert Syndrome:
A paediatrics case study
Salwa Imran
Group D
Joubert Syndrome?
Patho-physiology
- A rare disease - absence or underdevelopment of the cerebellar vermis and brain stem
- characterized by brain malformation, hypotonia, breathing abnormalities, ataxia, oculomotor apraxia, and developmental delays.
- Often accomanied by polydactyly,cleft lip or palate and seizures; tongue, kidney and liver abnormalities may develop.
- Sporadic & non-sporadic (autosomal recessive disorder)
- Partial or complete absence of cerebellar vermis
- Molar tooth sign
- Bat wing sign
Radiology imaging
Normal vs Joubert syndrome
Molar tooth & Bat wing sign
Case study
- 1.7 year female
- medical diagnosis: Joubert syndrome
- date of admission: 21.04.15
- Chief complain: : inability to make an eye contact, difficulty sitting, walking independently.
- Special mentions:
- Communication: affected
- GCS: 13 E4 V3 M6
- bowel/bladder: urinary & stool incontinence
- Other: recent chest infection
- Sensation: intact
- Reflexes: deep tendon reflexes = 1
- Tone: reduced response - hypotonia= +1
- ROM: normal ROM in hip & knee flexion bilaterally
- MMT: reduced muscle strength in lower limb
- Gait: ataxic
- Balance:needs assistance
- Mobility/transfer: difficult
- Non-equilibrium tests: 1
- Equilibrium tests: 0
Examination
Impairments:
reduced muscle tone, abnormal posture and balance, reduced trunk control
Activity limitations:
unable to sit, use the loo or walk around
Participation Restriction:
Unable to play around with friends and interact with others of her age
PT diagnosis:
Ambulatory dysfunction due to ataxia, poor truck control, reduced muscle tone, abnormal posture and balance
Prognosis:
13 months; sessions for 1 hour, 5 days per week
Short term goals
- The patient will be able to lie in supine, sit up and lie in supine again independently, in at least 5 months.
- The patient will be able to sit without support independently in at least 5 months.
- There will be increase in muscle strength in lower limb
- the patient will be able to walk with support in the first five months.
Long term goals:
- The patient will exhibit better balance and gait by 13th month.
- The patient will be able to walk forward and perform activities like kicking ball independently.
- The patient will be able to crawl, stay on forearms in face down position and ascend/descend stairs.
- There will be an overall improvement of GMFM score.
Plan of care:
- Neuro-development Therapy
- Neuro-plasticity exercise
- Hydrotherapy
- Frenkel's exercise
- Goal oriented tasks
- Audio-visual stimulation
- Two piece pediatric trunk support vest
- contoured seat and then multi-directional seating
- AFO
- Speech therapy
Instructions to patient:
Pt. instruction
- Let the child learn things at her own pace!
- Proper use of orthotics and contoured cushion