Turner Syndrome

Marissa Kennedy

Summary and Description

Definition: Turner syndrome is a chromosomal disorder that occurs in 1 out of every 2,500 newborn girls and in 10% of miscarriages. It is caused by the partial or complete deletion of the second X chromosome.


Cause: All, or part of the second X chromosome is lost before, or soon after conception. Because Turner syndrome is not hereditary, the affected chromosome is not passed on to the child from either parent.


Diagnostic Criteria: A female baby can be diagnosed with Turner syndrome prior to birth with an amniocentesis, or after birth with a karyotype blood test. Though diagnosis can occur at any point in the lifespan, it is usually diagnosed in the early teenage years when concerns of lack of puberty advancement arise.


Contributing Factors: Females with Turner syndrome often have a loss of ovarian function. Their ovaries develop normally at first, before egg cells die and ovarian tissue decays. Therefore, most affected individuals do not progress through puberty unless they receive hormone therapy.


Key characteristics:


  • short stature
  • narrow, high-arched palate
  • heart defects
  • hearing impairments
  • retrognathia
  • outward facing ears
  • webbed neck
  • droopy eyes
  • broad chest
  • flat feet
  • fine motor deficits
  • small and narrow fingernails


Source:

http://www.turnersyndromefoundation.org/learning.html#2

Language and Learning Implications

Those with Turner syndrome typical excel in the areas of linguistic knowledge and phonological processing. Some are even characterized as hyperlexic. Difficulties for these individuals include speech, language, spatial-temporal processing, social skills, nonverbal memory, attention, and hearing difficulties.


Speech:

  • high-arched palate --> imprecision in production of {g,n,l,d, j, ch}
  • hearing impairment --> hears imprecise speech, produces muffled speech, does not always hear word endings, has trouble following directions


Language:

  • word finding problems
  • information processing difficulty
  • trouble interpreting complex language (idioms, sarcasm, etc.)
  • needs repetition of directions


Literacy:

  • disheveled handwriting due to lack of spatial awareness


Sources:

(Murphy, M. M., 2009)

http://tss.org.uk/downloads/factsheet9.pdf

Strategies for the Classroom and/or Home Setting

Since students with Turner Syndrome have memory and information processing deficits, a variety of organizational tools and schedules should be in place both in the classroom and home setting. This will remind the student of the tasks that need to be completed and when they are to be completed. Their short stature, seeing and hearing impairments should also be considered for proper placement in the classroom.


Classroom Strategies:

  • visual class schedule for daily routine
  • incorporate sequencing activities into curriculum to improve processing and memory
  • use short and clear instructions--> have student repeat them back and write them down
  • preferential placement--> what is best for stature, hearing and vision?
  • speech therapy for articulation
  • assistive devices for dexterity for writing
  • constant reinforcement
  • "buddy system" to encourage social skills and confidence


Home Strategies:

  • visual schedule for daily routine
  • visual schedule for chores/homework/etc.
  • provide low seating and stools for accessibility


Source:

(Temple, C. M., & Shephard, E. E., 2012)

Tools for the SLP

Tools and techniques that a speech-language pathologist could use in the therapy setting for students with Turner Syndrome should focus on easing classroom challenges by providing organization, structure, accessibility, and self-confidence.


- Provides student with sense of independence, while feeling organized and prepared

- SLP role: guide student when creating schedule, explain how and when it will be used, include parent in intervention so schedule can be used at home


  • Sequencing Therapy Activities

- Encourages student to memorize and process information in the proper order

- SLP role: In correspondence with given activity, provide worksheets with written

segments that students must correctly sequence. If task is too difficult, provide

worksheet with picture segments.


- First, Next, Then, Last aid

- Incorporate sequencing therapy into curriculum by breaking down complex topics

(i.e., math problems, parts of a story, etc.)



  • Rapid Naming in Categories

-Technique to help student with word find difficulties.



  • Articulation Therapy

- SLP role: provide techniques to improve imprecise sounds due to high-arched palate


  • Assistive Devices

- Voice-to-Text--> incorporate into therapy/classroom if student has difficulty

writing or writing is illegible

- iPad/tablet---> incorporate into therapy/classroom if student would benefit from touch

screen applications or typing due to fine motor deficits


  • Pragmatic Skills

-SLP role: provide techniques to improve appropriate conversation topics, turn taking, conversation maintenance, confidence, etc.


Sources:

https://www.pinterest.com/cands1994/speech-therapy-sequencing-activities/

http://www.pbisworld.com

(Temple, C. M., & Shephard, E. E., 2012)