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Down syndrome awareness

Down syndrome is a genetic abnormality leading to physical and psychological limitations.

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Down syndrome awareness

  1. 1. Sara Ismail Topic : Down syndrome
  2. 2. INTRODUCTION What is down syndrome? It is a set of mental and physical symptoms that result from having an extra copy of chromosome 21 in other words… A set of physical, mental and behavioral characteristics that are due to a specific genetic abnormality ( Leshin, 2003).
  3. 3. Historical background • In 1866 John Langdon Down described a group of children with common traits that differed from other children with mental retardation. • In the beginning, children with down syndrome were referred as “mongoloids” because they looked like people Mongolia, the term changed into Down’s syndrome.
  4. 4. • Every cell in the human body contains genetic material stored in genes that carry inherited traits which are grouped in structures called chromosomes. • The nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent.
  5. 5. Symptoms of Down Syndrome • Flattened face and nose • Upward slant of the eyes • Poor muscle tone and short neck • Mental retardation • Small mouth sometimes with larger tongue • Abnormally-shaped ears and short fingers • White spots in the iris
  6. 6. CONT. • Increased risk of various medical states such as: • Heart problems • Alzheimer's disease • Thyroid conditions • Leukemia
  7. 7. CONT. • Cognitive delays and difficulties in: Developing basic language skills & motor skills & learning abilities (such as memory & concentration problem). • Difficulty in: Solving problems & the comprehension of consequences of their actions.
  8. 8. Diagnostic Features
  9. 9.  Short extremities i.e. Short broad hands and height  Eyes that slant upward/ Up-slanting slanting palpebral fissures General appearance & Facial Features
  10. 10.  Flat facial features Flat nasal bridge  Medial epicanthic folds  Brushfield spots (speckled iris)  Bulging tongue/Protruding tongue (Open Mouth)
  11. 11.  Short fifth finger  Incurved fifth finger
  12. 12.  Transverse palmer crease (single simian crease)  Space between first and second toe
  13. 13.  Poor muscle tone (Hypotonia)  Hyper flexibility of joints
  14. 14.  Strabismus (abnormal alignment of the eyes; the condition of having a squint)  Brachycephaly (Microcephaly)
  15. 15. Oddly shaped ears/Over Folded or dysplastic ears  Hypertelorism
  16. 16.  Anodontia  Almond-shaped eyes that slant up
  17. 17. System of the body Effects CNS moderate to severe mental retardation & seizure disorders Psychiatric/ Psychological Usually very cheerful and gentle. ADHD, ASD, OCD, depression, early dementia. CVS Congenital defects like endocardial cushion defect and others Other Hypothyroidism, leukaemia, Impaired cellular immunity.
  18. 18. Etiology
  19. 19. What Causes Down Syndrome? ETIOLOGY • Down syndrome (or Down's syndrome) is a chromosomal disorder caused by an error in cell division that results in an extra 21st chromosome. • When the baby’s cells develop, each cell is supposed to receive 23 pairs of chromosomes. Half of the chromosomes are from the mother and half from the father.
  20. 20. • The condition leads to impairments in both cognitive ability and physical growth that range from mild to moderate developmental disabilities. • Some times its because of error in cell divisions. • Attached extra piece of chromosomes.
  21. 21. Clinical Appearance
  22. 22. Clinical Appearance of Down’s Syndrome • Each person with Down's syndrome is affected differently, but most share a number of physical characteristics and developmental problems.
  23. 23. Physical Appearance • People with Down's syndrome often have certain physical characteristics. Not everyone will have all of them, but they may include: • reduced muscle tone which results in floppiness (hypotonia) • a small nose and flat nasal bridge • a small mouth with a protruding tongue • eyes that slant upwards and outwards
  24. 24. • a flat back of the head • a big space between the first and second toe (sandal gap) • broad hands with short fingers • their palm may have only one crease across it (single transverse palmar crease) • a below average weight and length at birth
  25. 25. • However, Down's syndrome do not all look the same and will share physical features with their parents and family.
  26. 26. Living with Down's syndrome • Having Down's syndrome, or having a child with the condition, can be challenging at times. But with help and support, most people are able to have healthy, active and more independent lives.
  27. 27. Emotional impact • In some cases, it may not be apparent a baby has Down's syndrome until after they are born. • Some families accept their baby's diagnosis of Down's syndrome quickly, while others need time to adjust.
  28. 28. • If you have recently found out your child has Down's syndrome, you may feel a range of emotions, such as fear, sadness or confusion. • It is quite common for parents to feel overwhelmed or have negative thoughts after the birth of their new baby. • There is no right or wrong way to react. Finding out more about the condition will give you a better understanding about how it may affect your child's life, as well as your own.
  29. 29. Relationships, Sex and Fertility • Many people with Down's syndrome enter loving relationships, although they may need guidance and support when it comes to things such as contraception. • Men and women with Down's syndrome tend to have a reduced fertility rate. • This does not mean they cannot conceive children, but it does make it more difficult. • Those who decide to have children will usually need specialist guidance and support to help them cope with the physical and mental demands of a newborn baby.
  30. 30. • If one partner in a couple has Down's syndrome, there is around a one in two chance of each of their children having Down's syndrome too. The risk of miscarriage and premature birth is also greater in women with Down's syndrome.
  31. 31. Health condition
  32. 32. Children with Down syndrome are at an increased risk for certain health problems • Heart defect • Vision problems • Hearing loss • Blood disorders • Hypotonia (poor muscle tone). • Infections • Digestive problems • Gum disease and dental problems • Thyroid problems
  33. 33. • Heart defects. Almost one-half of babies with Down syndrome have congenital heart disease (CHD), the most common type of birth defect. CHD can lead to high blood pressure in the lungs, an inability of the heart to effectively and efficiently pump blood
  34. 34. • Vision problems. More than 60% of children with Down syndrome have vision problems, including cataracts (clouding of the eye lens) that may be present at birth. • The risk of cataract increases with age. • Other eye problems that are more likely in children with Down syndrome are near-sightedness, “crossed” eyes, and rapid, involuntary eye movements
  35. 35. • Hearing loss. About 70% to 75% of children with Down syndrome have some hearing loss, sometimes because of problems with ear structures. • Blood disorders. Children with Down syndrome are 10 to 15 times more likely than other children to develop leukemia which is cancer of the white blood cells
  36. 36. • Hypotonia (poor muscle tone). Poor muscle tone and low strength contribute to the delays in rolling over, sitting up, crawling, and walking that are common in children with Down syndrome
  37. 37. Infections Respiratory infections are more common among people with Down syndrome, especially during the first five years of life. Infections of the skin and the bladder also tend to be common. Digestive problems Digestive problems range from structural defects in the digestive system or its organs, to problems digesting certain types of foods or food ingredients
  38. 38. • Gum disease and dental problems. Children with Down syndrome may develop teeth more slowly than other children, develop teeth in a different order, develop fewer teeth, or have misaligned teeth compared to children who do not have Down syndrome
  39. 39. Thyroid problems Around one in 10 people with Down's syndrome have problems with their thyroid gland. Most people with Down's syndrome who have a problem with their thyroid have hypothyroidism, which means their thyroid gland is underactive. Symptoms of an underactive thyroid gland can include: • lethargy (lack of energy) • weight gain • slow physical and mental reactions
  40. 40. • Adults with Down syndrome are also at increased risk for Alzheimer’s disease, thyroid conditions and sleep apnea. The majority of people born with Down syndrome today have an average life expectancy of 55 years, with some living into their seventies.
  41. 41. Learning and Development Down Syndrome
  42. 42. • Children with Down syndrome usually learn and progress more slowly than most other children. • However, not all areas of development are equally affected. • There is a specific pattern of cognitive and behavioral features that are observed among children with Down syndrome that differs from that seen in typically developing children and children with other causes of intellectual disability. • We refer to this pattern of characteristic strengths and weaknesses as a ‘developmental profile’.
  43. 43. By understanding how development and learning differs for children with Down syndrome we can devise more effective teaching approaches and therapies.
  44. 44. Social development The social functioning of babies and children with Down syndrome is relatively less delayed than other areas of development. Babies with Down syndrome look at faces and smile only a week or two later than other children and they are usually sociable infants. Infants with Down syndrome enjoy communicating and make good use of non- verbal skills including babbling and gesture in social situations.
  45. 45. Learning with visual supports Research suggests that people with Down syndrome learn better when they can see things illustrated. This finding has been demonstrated across a number of areas of development including the acquisition of language, motor skills and literacy. This suggests that teaching will be more effective when information is presented with the support of pictures, gestures or objects.
  46. 46. Word reading Many children with Down syndrome can develop reading abilities in advance of what might be expected for their cognitive and language levels. Reading makes an important contribution to vocabulary and language development for all children This may be a particular benefit for children with Down syndrome, given their specific language delays.
  47. 47. Motor development Motor skills develop at a slower rate for children with Down syndrome than for those without. These delays in motor development reduce infants’ opportunities for exploring and learning about the world around them and therefore further affect cognitive development. Poor oral motor control may impact the development of language skills.
  48. 48. Expressive language, grammar and speech clarity  Children with Down syndrome show specific delays in learning to use spoken language relative to their non-verbal understanding.  Almost every child will have expressive language that is delayed relative to their language comprehension.  The children experience two types of expressive difficulty - delay in mastering sentence structures and grammar, and specific difficulties in developing clear speech production.
  49. 49. The gap between the children’s understanding and their ability to express themselves is a cause of much frustration and can sometimes lead to behavior problems. It can also result in the children’s cognitive abilities being underestimated. Language delay also leads to cognitive delay as much human learning is through language and language is internalized for thinking, remembering and self-organization.
  50. 50. Number skills Most children with Down syndrome struggle with basic number skills and their number skills are typically some 2 years behind their reading skills. There is a need for more research into the reasons for this. Currently, the best available advice is to draw on what is known about the children’s learning strengths and to use maths teaching systems that make full use of visual supports to teach number concepts
  51. 51. Verbal short-term memory  Short-term memory is the immediate memory system which holds information ‘in mind’ for short periods of time and supports all learning and cognitive activity.  It has separate components specialised for processing visual or verbal information.  The ability of children with Down syndrome to hold and process verbal information is not as good as their ability to hold and process visual information.  These verbal short-term memory problems make it more difficult to learn new words and sentences. 
  52. 52.  They also make it more difficult to process spoken language and this can adversely affect learning in the classroom.  Studies suggest that the processing and recall of spoken information is improved when it is supported by relevant picture material.  This information has led to educators stressing the importance of using visual supports including pictures, signs and print when teaching children with Down syndrome as this approach makes full use of their stronger visual memory skills.
  53. 53. Some Facts about Children with Down Syndrome • All individuals with Down syndrome have some degree of mental retardation. • They learn more slowly and have difficulty with complex reasoning and judgment, but they do have the capacity to learn. • It is important to remember that it is impossible to predict the degree of mental retardation in an infant with Down syndrome at birth (just as it is impossible to predict the IQ of any infant at birth). • 40% of all children born with Down syndrome will have a congenital heart defect. Some of these defects are mild and require no treatment and others are more severe and may require surgery and medical management
  54. 54. Continue • Children with Down syndrome can and do learn, and are capable of developing skills throughout their lives. They simply reach goals at a different pace. • There is often a misconception that individuals with Down syndrome have a “static” or predetermined ability to learn. (which is not true) • It is now known that individuals with Down syndrome develop over the course of their lifetime and should be treated accordingly. • The learning potential of an individual with Down syndrome can be maximized through early intervention, good education, higher expectations and
  55. 55. Psychological Characteristics • At least half of all children and adults with Down syndrome face a major mental health concern during their life span. • Children and adults with multiple medical problems experience an even higher rate of mental health problems. • The most common mental health concerns include:  general anxiety,  repetitive and obsessive-compulsive behaviors;  oppositional, impulsive, and inattentive behaviors;  sleep related difficulties;  depression;  autism spectrum conditions; and  neuropsychological problems characterized by progressive loss of cognitive skills.
  56. 56. • Young and early school age children with limitations in language and communication skills, cognition, and non- verbal problem solving abilities present with increased vulnerabilities in terms of:  Disruptive, impulsive, inattentive, hyperactive and oppositional behaviors (raising concerns of coexisting oppositional disorder and ADHD)  Anxious, stuck, ruminative, inflexible behaviors (raising concerns of co-existing generalized anxiety and obsessive- compulsive disorders)  Deficits in social relatedness, self- immersed, repetitive stereotypical behaviors (raising concerns of co-existing autism or pervasive developmental disorder)  Chronic sleep difficulties, daytime sleepiness, fatigue, and mood related problems (raising concerns of co-existing sleep disorders and sleep apnea)
  57. 57. • Older school age children and adolescents, as well as young adults with Down syndrome with better language and communication and cognitive skills presenting with increased vulnerability to:  Depression, social withdrawal, diminished interests and coping skills  Generalized anxiety  Obsessive compulsive behaviors  Regression with decline in loss of cognitive and social skills  Chronic sleep difficulties, daytime sleepiness, fatigue, and mood related problems (raising concerns of co-existing sleep disorders and sleep apnea)
  58. 58. • Older adults present with increased vulnerability to:  Generalized anxiety  Depression, social withdrawal, loss of interest, and diminished self-care  Regression with decline in cognitive and social skills  Dementia • Note: All these changes in behavior often seem to occur as a reaction to (or triggered by) a psychosocial or environmental stressor, e.g., illness in, separation from, or loss, of a key attachment figure.
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Down syndrome is a genetic abnormality leading to physical and psychological limitations.


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