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WEDNESDAY, NOVEMBER 29, 2017

Language Processing in the Rhombencephalon

How it is affected by the Joubert Syndrome

Divisions of the Brain

  • Proscephalon
  • Forebrain
  • Mesencephalon
  • Midbrain
  • Rhomcephalon
  • Hindbrain

Images of the Divisions of the Brain

Images of the Divisions of the Brain

Hindbrain

  • Links the brain and spinal cord
  • Portion of the CNS
  • Includes the pons, cerebellum, and medulla oblangata
  • Automatic function
  • Plays a role in verbal and signing expressions of thoughts and feelings
  • Affected by the Joubert syndrome

PONS

Metencephalon

Pons

STRUCTURE

STRUCTURE

Connects medulla to thalamus

FUNCTION

FUNCTION

Controls breathing

CEREBELLUM

STRUCTURE

STRUCTURE

Large structure located immediately inferior to the posterior cerebral cortex

FUNCTION

FUNCTION

coordinates motor commands and sensory inputs to control movement

communicates with the brainstem, spinal cord, and cerebral cortex by means of superior, middle, and inferior cerebral peduncles

MEDULLA OBLONGATA

Medulla Oblongata

Myelencephalon(Medulla)

STRUCTURE

  • forms the lowest part of the brain stem located below the pons and above the spinal cord

FUNCTION

  • control center that regulates functions such as regulating breathing, heart and blood vessels, digestion, sneezing, and swallowing

JOUBERT SYNDROME

JOUBERT SYNDROME

is a rare disorder in part of the hindbrain specifically the cerebellum.

Causes :

  • may be changes in genetic
  • may be inhertited
  • meaning that each parent is a carrier

Characteristics :

  • hypotonia
  • molar tooth sign
  • abnormal breathing patterns
  • mental disabilities / developmental delays
  • ( some children may not be effected intelgibility wise)

Joubert cont...

To this day there is no known cure

  • individuals exhibit expressive and ressesive language impairaments

Molar Tooth Sign

Genetics

  • JS is an autosomal recessive pattern of inheritance. (both parents carry one copy of the gene)

  • The genetic strains can vary regionally.

The Unexpected Journey

Start 2:08

End 3:53

Speech Pathology

  • JS is a rare syndrome, because of this a lot of SLP's are not informed of it and need more training and research to better benefit the child's improvement rate.

References

  • Braddock, B. A., Farmer, J. E., Deidrick, K. M., Iverson, J. M., & Maria, B. L. (2006). Oromotor and communication findings in joubert syndrome: further evidence of multisystem apraxia. Journal of child neurology, 21(2), 160-163.
  • Highnam, C. L., & Bleile, K. M. (2011). Language in the cerebellum. American journal of speech-language pathology, 20(4), 337-347. doi:10.1044/1058-0360(2011/10-0096)
  • Michuad, J.L., Ospina, L.H., Rypens, F. (2015). Joubert syndrome in french canadians and identification of mutations in CEP104, 97(5), 744-753. doi:10.1016/j.ajhg.2015.09.009
  • Parisi, M. A., Doherty, D., Chance, P. F., & Glass, I. A. (2007). Joubert syndrome (and related disorders) (OMIM 213300). European journal of human genetics, 15(5), 511-521. doi:10.1038/sj.ejhg.5201648
  • Seikel, J. A., Drumright, D. G., & King, D. W. (2010). Anatomy & physiology for speech, language, and hearing (5th ed.). Clifton Park, NY: Cengage learning.
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