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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)

MRI interpretation:

  • Partial or complete absence of cerebellar vermis
  • Molar tooth sign
  • Bat wing sign

Radiology imaging

1

Normal vs Joubert syndrome

2

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

ICF

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

Goals

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.

Care plan

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

  • parent counseling
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