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Down Syndrome

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William Widjaja

on 4 June 2015

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Transcript of Down Syndrome

Down Syndrome
Development Over The Years
Implications of Down Syndrome On Communication
What is Down Syndrome?
- Trisomy-21 meaning 3 copies of chromosome 21
- Purely Genetic
- We aren’t sure why it happens
- Common with 1 in 700-900 babies being born with it.
- Maternal age does not have much of an impact as previously thought.
- Majority of Down Syndrome kids are born to mothers younger than 35

Effects on Health
People with Downs syndrome look like their family members. However, there are some common physical attributes.
- Common Physical Attributes
- Weakness in muscles
- Shorter neck
- Flatter face
- Larger Tongue.
- Smaller mouth and ears
- Larger gap between first and second toes
- Upward slanting opening of the eyes.

Effects on Health
There is an increased risk of some health conditions in people who have Down Syndrome.

- Increased risk of having congenital heart disease
- Increased risks in:
- Hearing loss
- Middle ear infections
- Eye disease and cataracts
- Sleep apnoea
- Thyroid disease

Life expectancy of more than 60 years!

How is it diagnosed?
Possible assessments can be done before and after birth.

- Pre-birth are screener tests.

- Can occur in first and second trimesters

- Blood test and Ultrasound

Full Diagnostic Assessment
- Testing for extra genetic material

Implications of Down Syndrome
Hearing difficulties
- Why?
- Hearing loss.

Difficulty hearing in certain situations.

Language Development affected.
One of many factors affecting communication in Down Syndrome.

Writing – Implications of Down Syndrome
Writing- it's a complex task!

- Reduced ability vs. those of the same age.
Areas of difficulty

Getting a point across can be difficult.
Difficulties handwriting.
- Why?

What leads to better outcomes?
- Strong language foundations
- Early intervention.

Reading- Implications of Down Syndrome
- Reading is affected. But how much?

- Reading stronger than writing

- Many with Down Syndrome learn to read!

- Need lots of exposure, but will make gains

- Reading accuracy – comparatively strong vs thinking.

Implications of Down Syndrome
Early on
- Babbling?
- First words?
- Continuing?

-Shorter sentences.

-Expression vs. Understanding

-Ability to express as an indicator of overall language


-Word order vs. Words

-Difficulties socialising as a result.

Speech- Implications of Down Syndrome
A Summary: Down Syndrome and Communication
- There are many impacts on communication

- But, emphasis should be placed on what the individual CAN do, not what they can’t.

- Those with DS can communicate, and have many friends and positive social relationships.

-They have potential which needs only be unlocked!

The Childhood Years:
Participation and Activities
0-5 years
What can we do to help?
5-16 years

Dedicated support, assistance and teamwork can make this happen!
- Families,
- Teachers
- Health professionals

Participation and Leisure for school-aged children with Down syndrome
Limitations to participation
Level of speech and language skills

Social skills

Level of mobility

Level of independence skills

School to adulthood transition is a critical, yet challenging time for
young adults, especially young adults with Down syndrome.

Upheaval and life-changing decisions.

Become independent and participating
members of society.

What do young adults with Down syndrome want?
The same things that everyone else wants!
- Job
- Friends
- Travel

- Owning their own place
- Being part of the community
- Relationships (dating/marriage)
- Further education
(Wakeford & Waugh, 2014, p. 47)
(Kraemer, Mcintyre, & Blacher, 2003)
(Foley et al., 2013)
(Australian Government Department of Social Services: Australian disability enterprises, 2014)

What does the future look like after school?
(Foley et al., 2013)
(Australian Government Department of Social Services: Australian disability enterprises, 2014)
“If you have just given birth to a child with Down syndrome, don’t despair. As you grow to love this new life, you will realise that you too have been given a gift. A very unique gift, that you should value and treasure…Get ready for unexplainable joy, concern and pain and happiness…[for] raising a child is hard work. Raising a child with Down syndrome isn’t any easier. It has challenges and trials, triumphs and victories just like any other child.”

NDIS: National Disability Insurance Scheme
From 2016, all disability services will transition to become the National Disability Insurance Scheme.

Child and adult services

- Funded support to access community services and activities
- Early intervention

For more information, please see: www.ndis.gov.au

Support Groups

Child/adult with Down syndrome – to meet other children/adults with Down syndrome, and share life stories.

The siblings of the child/adult with Down syndrome – to interact and share similar stories with other siblings.

The parents/carers to interact and share similar stories.

: Grow a sense of community and create friendships to help, learn and support each other.

(Driscoll and Gross, 2009) (American Academy of Pediatrics. (2001). )
Development Over The Years
Participation in daily activities is a big part of the quality of life in a person with a disability.

What can we do about these barriers?

Organised network collaborating between schools, families and health services
(Wakeford, & Waugh, 2014)
(Davies & Beamish, 2009)

Funding and Services

(Delabar 1993) (Erich et.al 2011)
Image: http://www.tetrasomy18p.ca/chromosome1.jpg

Image: http://noahsdad.com/wp-content/uploads/2011/12/baby-blue-eye-down-syndrome-playing-cute-11-640x423.jpg


It can be helped!
The conditions which come with Down Syndrome can be managed!

- Team Work
- Therapy such as Physiotherapy for mobility
- Therapy such as Speech and Language for Communication
- Individual personal assistants

For more information, speak to your GP or doctor.
Image: http://www.clipartbest.com/cliparts/7Ta/KAx/7TaKAxLTA.jpeg
Pelatti, 2013
Chapman & Hesketh

Image: https://c1.staticflickr.com/1/222/452830868_0f1406ba87_b.jpg
Image: https://c1.staticflickr.com/1/222/452830868_0f1406ba87_b.jpg
Image: http://ndsccenter.org/worpsite/wp-content/uploads/2012/05/Pics_Main_3.jpg
An information Presentation about Down Syndrome
"The only disability in life is a bad attitude.”
Scott Hamilton

(Felt, 2012, p. 6)
Developmental delays
- Motor
- Learning
- Speech and language

Early developmental years
5 years

- Being toilet trained
- Able to fed themselves
- Able to dress themselves

(Hulme et al, 2012)

Speech difficulties?

Anatomy and it’s contribution.

When does it become evident?

Early difficulties?


Significant implications?
- Reduced intelligibility, reduced understanding of others.

Social implications.

(Buckley & Sacks, 2001)
(Cuskelly, Jobling & Buckley, 2002)

- Family support

- High expectations for their full potential
- Families who have positive attitudes, and who treat their child with Down syndrome like any other child have massive benefits in their overall development.

- Early intervention services
- Speech and language therapy
- Physiotherapy - target motor development

Development in motor, social and communication abilities
possible with:
(Buckley & Bird, 2002)
(Buckley & Sacks, 2002)
(Buckley & Sacks, 2001)

(Buckley & Sacks, 2001)
(Davies & Beamish, 2009)
Participation in Mainstream Classrooms
Development Over The Years

The Transitional Stage: Childhood to Adulthood
Beneficial for:
Adults with Down syndrome are living longer



Services and support

Encouraged participation in social groups
Development Over The Years
Aged care
(Carling-Jenkins & Tracy, 2012)
:Audiology, occupational therapy, orthoptics, psychology, physiotherapy, and speech pathology.
(Buckley & Bird, 2000)
(Moni & Jobling, 2008)

(Cuskelly, Jobling & Buckley, 2002)
(Buckley, Bird, Sacks & Archer, 2002)
(Oates, Bebbington, Girdler, Bourke & Leonard, 20111)
(Oates, Bebbington, Girdler, Bourke & Leonard, 20111)
(Oates, Bebbington, Girdler, Bourke & Leonard, 20111)
(Menear, 2007)
(Lauteslager, 2000)
(Foley et al., 2013)
(Telethon Kids Institute, 2014)
(Wakeford & Waugh, 2014)
(Kreamer, McIntyre & Blacher, 2003
(Australian Government Department of Social Services: Australian disability enterprises. 2014)
(Foley et al, 2013)
(Foley et al, 2013)
(Foley et al, 2013)
(Holwerda, Brouwer, De Boer, Groothoff, & Van der Klink, 2015)
(Laragy C., 2004)

(Foley et al, 2013)
References for Down Syndrome and Physical features

Delabar, J. M., Theophile, D., Rahmani, Z., Chettouh, Z., Blouin, J. L., Prieur, M., ... & Sinet, P. M. (1993). Molecular mapping of twenty-four features of Down syndrome on chromosome 21. European Journal of HumanGenetics, (1), 114-24.
Driscoll, D. A., & Gross, S. (2009). Prenatal screening for aneuploidy. New England Journal of Medicine, 360(24), 2556-2562.
Ehrich, M., Deciu, C., Zwiefelhofer, T., Tynan, J. A., Cagasan, L., Tim, R., ... & van den Boom, D. (2011). Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. American journal of obstetrics and gynecology, 204(3), 205-e1.
González‐Agüero, A., Vicente‐Rodríguez, G., Moreno, L. A., Guerra‐Balic, M., Ara, I., & Casajus, J. A. (2010). Health‐related physical fitness in children and adolescents with Down syndrome and response to training. Scandinavian journal of medicine & science in sports, 20(5), 716-724.
Kagan, K. O., Wright, D., Baker, A., Sahota, D., & Nicolaides, K. H. (2008). Screening for trisomy 21 by maternal age, fetal nuchal translucency thickness, free beta‐human chorionic gonadotropin and pregnancy‐associated plasma protein‐A. Ultrasound in Obstetrics & Gynecology, 31(6), 618-624.
Korenberg, J. R., Chen, X. N., Schipper, R., Sun, Z., Gonsky, R., Gerwehr, S., ... & Disteche, C. (1994). Down syndrome phenotypes: the consequences of chromosomal imbalance. Proceedings of the National Academy of Sciences, 91(11), 4997-5001.
Rubin, S. S., Rimmer, J. H., Chicoine, B., Braddock, D., & McGuire, D. E. (1998). Overweight prevalence in persons with Down syndrome. Mental retardation, 36(3), 175-181.
Wald, N. J., Watt, H. C., & Hackshaw, A. K. (1999). Integrated screening for Down's syndrome based on tests performed during the first and second trimesters. New England Journal of Medicine, 341(7), 461-467.
Australian Government Department of Social Services: Australian disability enterprises. (2014). Australian disability enterprises. Retrieved March 16, 2015, from https://www.dss.gov.au/our-responsibilities/disability-and-carers/program-services/for-service-providers/australian-disability-enterprises
Australian Government Department of Social Services. (n.d.). Better Start for children with a disability. Retrieved March 19, 2015, from http://betterstart.net.au/
Buckley SJ, Bird G. (2000). Education for individuals with Down syndrome - An overview. Down
Syndrome Issues and Information. doi:10.3104/9781903806319
Buckley, S.J., Bird, G., Sacks, B.I., Archer, T. (2002). A comparison of mainstream and special school
education for teenagers with Down syndrome. Down Syndrome News and Update. 2(2), 46-54.
Buckley. S., Sacks B. (2001). An overview of the development of infants with Down syndrome (0-5
years). Down Syndrome Issues and Information. doi:10.3104/9781903806029
Buckley, S., Sacks B. (2001). An overview of the development of children with Down syndrome (5-11
years). Down Syndrome Issues and Information. 2001. doi:10.3104/9781903806036
Buckley, S., Bird, G. (2002). Speech and language development for teenagers with Down syndrome (11-
16 years). Down Syndrome Issues and Information. doi:10.3104/9781903806074
Carling-Jenkins, R.., Tracy, J. (2012). Dementia in people with Down syndrome. Voice,3(1), 16-18. Retrieved from http://www.downsyndromensw.org.au/data/Voice_April_2012_Dementia_in_people_with_Down_syndrome.pdf
Cuskelly, M., Jobling, A., Buckley, S. (2002). Down syndrome across the lifespan. England: Whurr Publishers Ltd.
Davies, M. D., Beamish, W. (2009). Transitions from school for young adults with intellectual disability: Parental perspectives on “life as an adjustment”. Journal of Intellectual & Developmental Disability, 34(3), 248-257. doi:10.1080/13668250903103676
Down syndrome Victoria. (n.d.). Down syndrome today. Retrieved from Victoria state government Department of Human Services, Down syndrome Victoria website: http://www.downsyndromevictoria.org.au/DSAV/Documents/Information%20Distribution/Down-Syndrome-Today.pdf

References for Development over the years

Felt, B. (2012). Chosen for this gift: My story of hope, survival and raising a child with special needs. Minneapolis, MN: Mill City Press.
Foley, K. R., Jacoby, P., Girdler, S., Bourke, J., Pikora, T., Lennox, N., . . . Einfeld, S. (2013). Functioning and post-school transition outcomes for young people with Down syndrome. Child care health and development, 39(6), 789-800. doi:10.1111/cch.12019
Holwerda, A., Brouwer, S., De Boer, M., Groothoff, J., & Van der Klink, J. (2015). Expectations from different perspectives on future work outcome of young adults with intellectual and developmental disabilities. Journal of Occupational Rehabilitation, 25(1), 96-104. doi:10.1007/s10926-014-9528-3
Kraemer, B., McIntyre, L., Blacher, J. (2003). Quality of life for young adults with mental retardation
during transition. Ment Retard, 41, 250–262.
Lauteslager, P. (2000). Children with Down’s syndrome: Motor development and intervention (Doctoral dissertation, University Utrecht, The Netherlands). Retrieved from http://www.downdevelopment.nl/afb/boek_UK.pdf
Menear, K.S. (2007) Parents’ perceptions of health and physical activity needs of children with Down
syndrome. Down Syndrome Research and Practice, 12(1), 60-68. doi:10.3104/reports.1996
Moni, K. B., & Jobling, A. (2008). A case for including popular culture in literacy education for young adults with Down syndrome. The Free Library. Retrieved from http://www.thefreelibrary.com/A case for including popular culture in literacy education for young...-a0195069830
National Disability Insurance Scheme. (n.d.). National Disability Insurance Scheme. Retrieved March 19, 2015, from http://www.ndis.gov.au/
Oates, A., Bebbington, A., Girdler, S., Bourke, J., Leonard, H. (2011). Leisure participation for school-aged children with Down syndrome. Disability & Rehabilitation, 33, 1880-9. doi: 10.3109/09638288.2011.553701
Telethon Kids Institute. (2014). Down Syndrome. Retrieved March 16, 2015, from http://telethonkids.org.au/our-research/projects-index/d/down-syndrome/
Wakeford, M., & Waugh, F. (2014). Transitions to employment of Australian young people with disability and the Ticket to Work initiative. Retrieved from Australian Government: National Disability Employment Initiative (National Ticket to Work Network) website: http://www.tickettowork.org.au/wp-content/uploads/2014/08/Transitions-to-Employment-of-Australian-Young-People-with-Disability-Full-Report.pdf
World Health Organization. (2001). ICF: International classification of functioning, disability and
health. Geneva: World Health Organization.
References for development over the years continued
References for Down Syndrome and Communication

Chan, J., & Iacono, T. (2001). Gesture and word production in children with Down syndrome. Augmentative and Alternative Communication, 17(2), 73-87
Chapman, R., & Hesketh, L. (2001). Language, cognition, and short-term memory in individuals with Down syndrome. Down Syndrome Research and Practice, 7(1), 1-7.
Cupples, L., & Iacono, T. (2000). Phonological awareness and oral reading skill in children with Down syndrome. Journal of Speech, Language, and Hearing Research, 43(3), 595-608.
Gibbon, F. E., Mcneill, A. M., Wood, S.E., & Watson, J. M. (2003). Changes in linguapaltatal contact patterns during therapy for velar fronting in a 10-year-old with Down’s Syndrome. International Journal of Language & Communication Disorders, 38(1), 47-64.
Jackson, C., Cavenagh, P., & Clibbens, J. (2014). Communication and self‐esteem in adults with Down syndrome. International Journal of Language & Communication Disorders, 49(3), 275-287.
Jenkins, C. (1993). Expressive language delay in children with Down syndrome.Down Syndrome Research and Practice, 1(1), 10-14.
Kent, R. D., & Vorperian, H. K. (2013). Speech impairment in Down syndrome: A review. Journal of Speech, Language, and Hearing Research, 56(1), 178-210.
Næss, K. A. B., Melby-Lervåg, M., Hulme, C., & Lyster, S. A. H. (2012). Reading skills in children with Down syndrome: A meta-analytic review.Research in developmental disabilities, 33(2), 737-747
Pelatti, C. Y. (2010). Miscue Analysis of Students with Down Syndrome and Typically Developing Students with Reading Difficulties (Doctoral dissertation, University of Cincinnati).
Pinter, J. D., Eliez, S., Schmitt, J. E., Capone, G. T., & Reiss, A. L. (2001). Neuroanatomy of Down’s syndrome: a high-resolution MRI study.Neuroanatomy, 158(10).
Rosin, M. M., Swift, E., Bless, D., & Vetter, D. K. (1988). Communication profiles of adolescents with Down syndrome. Communication Disorders Quarterly, 12(1), 49-64
Varuzza, C., De Rose, P., Vicari, S., & Menghini, D. (2015). Writing abilities in intellectual disabilities: A comparison between Down and Williams syndrome.Research in developmental disabilities, 37, 135-142
Vicari, S., & Carlesimo, G. A. (2006). Short-term memory deficits are not uniform in Down and Williams syndromes. Neuropsychology review, 16(2), 87-94.
Yoder, P. J., Woynaroski, T. G., Fey, M. E., & Warren, S. F. (2014). Effects of Dose Frequency of Early Communication Intervention in Young Children With and Without Down Syndrome. American Journal on Intellectual and Developmental Disabilities, 119(1), 17–32. doi: 10.1352/1944-7558-119.1.17

Child services: Better Start Program
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