Down Syndrome is the most common chromosomal abnormality affecting children today. It occurs in approximately 1 in 800 to 1,000 births and is caused by the presence of an extra copy of chromosome 21. Individuals with Down Syndrome often have intellectual disabilities and are at increased risk for certain medical conditions such as congenital heart disease, gastrointestinal abnormalities, hearing loss, thyroid disorders, and periodontal disease. Proper screening, monitoring, and management of associated health issues can help improve quality of life for those with Down Syndrome.
Pediatrics. trisomy 21. Meiotic non-disjunction of chromosome 21. clinical features and associated abnormalities of down syndrome. screening test for down syndrome. counseling for parents in down syndrome.
This slide is prepared by medical student for educatonal purpose. Please comment if anything to add on this slide.Please share if youlike the slide in your educational group.
Pediatrics. trisomy 21. Meiotic non-disjunction of chromosome 21. clinical features and associated abnormalities of down syndrome. screening test for down syndrome. counseling for parents in down syndrome.
This slide is prepared by medical student for educatonal purpose. Please comment if anything to add on this slide.Please share if youlike the slide in your educational group.
What is bronchiolitis and its definition, the age group, signs and symptoms and clinical presentation The clinical practice guidelines, how to diagnosis, clinical criteria, what are the severity degrees and How to assess the severity, what are the investigations that may be needed, Is there any diagnostic test, what is the prognosis
What is the management,
What is bronchiolitis and its definition, the age group, signs and symptoms and clinical presentation The clinical practice guidelines, how to diagnosis, clinical criteria, what are the severity degrees and How to assess the severity, what are the investigations that may be needed, Is there any diagnostic test, what is the prognosis
What is the management,
For many parents, this question of what is Down syndrome is asked to understand the basics. This presentation gives the real parents the non medical jargon answers. Read more about what is Down syndrome at http://specialfamiliescoach.com/what-is-down-syndrome-for-real-parents/ or read more about parenting children with special needs at http://specialfamiliescoach.com/
Parents who have just gave birth or will give birth to a baby with Down syndrome are looking for answers. There are probably more questions than there are answers. Hopefully this presentation will give you the basic understanding to what is Down syndrome.
The presentation talks about a few key topics in the world of Down syndrome. It talks about Down syndrome facts, symptoms of Down syndrome, and what causes Down syndrome?
You can also watch a video to parents who are asking the question what causes Down syndrome?
https://www.youtube.com/watch?feature=player_embedded&v=Vhc0r7UQxj4
Find out more information from reliable resources:
http://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
https://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/
http://ghr.nlm.nih.gov/condition/down-syndrome
http://www.mayoclinic.org/diseases-conditions/down-syndrome/basics/causes/con-20020948
Down Syndrome Cognition Research 101: An Introductionplus15campaign
An introduction to topics in Down syndrome cognition research, including current initiatives DSRTF supports and clinical trials now underway. Presenters: DSRTF board member Sarah Wernikoff; DSRTF Chief Scientific Officer Dr. Michael Harpold; and Roche Pharmaceuticals' Dr. Omar Khwaja.
Down’s syndrome health problems and strategies for careKhulood Alzahrani
- What is Down syndrome
- Incidence and Types of Down syndrome
- General features of person with Down syndrome
- Complications associated with Down syndrome
- Mental health and behavioral problems and its management
- Features Related to Dentistry
- Managements in dental clinic
a brief explanation about down syndrome's causes, symptoms, noticeable differences etc. with pictures of patients, ultrasounds for early diagnosis, for better understanding. Hopefully it will be helpful to all you medical students out there, and also people curious to know about this syndrome.
Down syndrome - A Parent's perspectivelauintransit
This PowerPoint was created for a presentation provided to health professionals at my local hospital. I would be happy to present this PowerPoint to any hospital in Queensland, or alternatively, I give permission for this PowerPoint to be used by others for future presentations for health professionals. It was designed to be delivered by parents of a child with Down syndrome. Please feel free to provide constructive feedback on the presentation.
Heinzman, D. and Khan, S (July 2010). Down Syndrome. Accessed via MDConsult on February 4, 2011 at http://phstwlp1.partners.org:2872/das/pdxmd/body/235051741-11/1114849877?type=med&eid=9-u1.0-_1_mt_1014362#Contributors
Chen H. (Feb 20110). Down Syndrome. Accessed via eMedicine on February 6, 2011 from http://emedicine.medscape.com/article/943216-overview
Chen H. (Feb 20110). Down Syndrome. Accessed via eMedicine on February 6, 2011 from http://emedicine.medscape.com/article/943216-overview
American Congress of Obstetrics & Gynecology (2007). New Recommendations for Down Syndrome: Screening Should Be Offered to All Pregnant Women. Accessed on February 4, 2011 from http://www.acog.org/from_home/publications/press_releases/nr01-02-07-1.cfm
Families weigh this decision individually Barss, V.A., Messerlian, G.M., & Canick, J.A. (2009). Overview of prenatal screening and diagnosis of Down syndrome. Accessed via UptoDate on January 31, 2011 from http://www.uptodate.com/online/content/topic.do?topicKey=antenatl/16784&source=see_link&anchor=H4#H4
The actual risk for the patient is provided in the report (eg, Down syndrome risk 1 in 900) and this number should be given to the patient. Barss, V.A., Messerlian, G.M., & Canick, J.A. (2009). Overview of prenatal screening and diagnosis of Down syndrome. Accessed via UptoDate on January 31, 2011 from http://www.uptodate.com/online/content/topic.do?topicKey=antenatl/16784&source=see_link&anchor=H4#H4
Barss, V.A., Messerlian, G.M., & Canick, J.A. (2009). Overview of prenatal screening and diagnosis of Down syndrome. Accessed via UptoDate on January 31, 2011 from http://www.uptodate.com/online/content/topic.do?topicKey=antenatl/16784&source=see_link&anchor=H4#H4
NST, BPP, antepartum tests: It is reasonable to use these tests for the usual obstetrical indications (eg, fetal growth restriction, oligohydramnios, preeclampsia, decreased fetal movement).
The baby is born, the NP needs to provide anticipatory guidance and emotional support. Goal at this time is to encourage a healthy bond. This is an emotional time for families whether it was prenatally diagnosed or not. There are terms to recognize in the physical presentation of DS but certainly these are more academic purposes, I don’t think parents want to hear upslanting palpebral fissures. They may have health promotion inquiries regarding their baby’s vision health instead. Physical Characteristics: Dysmorphic Features Brachycephaly Upslanting palpebral fissures Epicanthic folds Brushfield spots – small white/graying brown spots on periphery of the iris Flat nasal bridge Folded or dysplastic ears Small ears Open mouth Protruding tongue Furrowed tongue Narrow palate Abnormal teeth Short neck Excessive skin at nape of the neck
Physical Characteristics: Dysmorphic Features Affecting the Extremities Short broad hands Hypoplastic mid phalanx of fifth finger Incurved fifth finger Transverse palmar crease Space between the first and second toes (sandal gap deformity) Hyperflexibility of joints
A picture to depict common areas of concern which we’ll go over.
Roizen, N.J. and Stark, A.R. (Oct. 2009). Management of Down syndrome. Accessed via UpToDate on January 31, 2011 from http://www.uptodate.com/online/content/topic.do?topicKey=dis_chld/7271&source=related_link
The profile of cognitive impairment in DS appears to differ from other forms of intellectual disability. Impairment in expressive language was noted in another study of children with DS, who had fewer different and total words and decreased mean length of utterance compared to controls matched for nonverbal mental age. Vocabulary skills accelerated more rapidly than syntax (average sentence length and structure) and surpassed mental age in adolescence. Similar findings of increasing differences in comprehension with age were noted in another report, in which children with DS developed relatively stronger skills in vocabulary compared to syntax. Other selective deficits have been described, such as greater difficulty understanding sequences or grammatical rules. Barss, V.A., Messerlian, G.M., & Canick, J.A. (2009). Overview of prenatal screening and diagnosis of Down syndrome. Accessed via UptoDate on January 31, 2011 from http://www.uptodate.com/online/content/topic.do?topicKey=antenatl/16784&source=see_link&anchor=H4#H4
The cause of DS-associated growth retardation remains unknown; low circulating levels of IGF-1 and diminished provoked and spontaneous secretion of GH have been reported in some patients [ 36,37 ]. Serum GH levels are not low in children with DS [ 38,39 ], but suboptimal endogenous GH production as a result of hypothalamic dysfunction has been demonstrated [ 40 ]. Selective deficiency of IGF-1, but not IGF-II, has been seen in Down syndrome patients who are older than two years [ 41,42 ]. IGF-1 receptors are present in brain cells from fetuses with trisomy 21 [ 42 ]. This is thought to result from the reduced resting metabolic rate in children and adults with DS [ 43,44 ]. In general, weight is less than expected for length in infants with DS, and then increases disproportionally so [ 8 ]. Barss, V.A., Messerlian, G.M., & Canick, J.A. (2009). Overview of prenatal screening and diagnosis of Down syndrome. Accessed via UptoDate on January 31, 2011 from http://www.uptodate.com/online/content/topic.do?topicKey=antenatl/16784&source=see_link&anchor=H4#H4
This and the following information will help the NP provide good anticipatory guidance. Educate the parents that the growth and development growth charts available is standardized to capture average children without Down Syndrome, their baby will have their own growth chart Barss, V.A., Messerlian, G.M., & Canick, J.A. (2009). Overview of prenatal screening and diagnosis of Down syndrome. Accessed via UptoDate on January 31, 2011 from http://www.uptodate.com/online/content/topic.do?topicKey=antenatl/16784&source=see_link&anchor=H4#H4
American Academy of Pediatrics http://aappolicy.aappublications.org/cgi/content/full/pediatrics;107/2/442
Barss, V.A., Messerlian, G.M., & Canick, J.A. (2009). Overview of prenatal screening and diagnosis of Down syndrome. Accessed via UptoDate on January 31, 2011 from http://www.uptodate.com/online/content/topic.do?topicKey=antenatl/16784&source=see_link&anchor=H4#H4
Murray, J., Ryan-Krause, P. (2010). Obesity in Children with Down Syndrome: Background and Recommendations for Management Pediatric Nursing, 36(6):314-319. Accessed via Medscape on Feb. 2, 2011 from http://www.medscape.com/viewarticle/734672_4
The characteristics of hearing loss were illustrated by a study of 47 children with DS, two months to 3.5 years of age, evaluated by auditory brainstem response testing. Monitoring for this condition is important to preserve hearing.
In a Dutch study in children up to 14 years of age, the risk of type I diabetes is 3x greater in DS than in the general population
Height & weight are to be obtained since since the combination of slow of linear growth associated with weight gain is a sensitive indicator of hypothyroidism
The mechanism is thought to be because of alterations in mouth flora, with a higher frequency of Actinobacillus actinomycetemcomitans compared to controls Anticipate that the cooperation necessary for many orthodontic procedures may make them impractical in this population.
Van Cleve, S.N., and Cohen, W.I. (2006). Part I: Clinical Practice Guidelines With Down Syndrome From Birth to 12 Years. Journal of Pediatric Health Care, 20 (1):47-54 . Retrieved on January 31, 2011 from http://www.medscape.com/viewarticle/521906