Case Study XI

1. Case Study XI Clayton Meyer, SPT Brittany Montgomery, SPT

2. Overview • Exam • Diagnosis • Screening • Common Characteristics • Prognosis • Pathology • Incidence • PT implications • Practice Patterns • NCMRR Model • Intervention • Goals • Embedded Issue

3. Subjective Examination Michael Jordan 2 y/o male Referred to ECI Mother reports Child unable walk No words Trouble with feeding

4. Objective Exam • Physical Characteristics • Upward slanting palpebral fissures • Low nasal bridge • Simian Creases • Hypotonia • Tetralogy of Fallot (congenital Heart defect)

5. Objective Examination Physical Examination Child only able to take 3-5 steps independently4 Child small for age Child can: Sit independently with poor posture and balance Pull to stand Developmental age appears to be about 12 months. Child should be able to: Right to stand Walk in all directions independently Stand on one leg

6. Examination Cont. Neurologic Examination Dermatomes/Myotomes normal CN intact Hypotonic

7. Diagnosis Down Syndrome

8. Common Myths1 • Down syndrome is a rare genetic disorder • Most children with Down syndrome are born to older parents • Adults with Down syndrome are unemployable • Adults with Down syndrome are unable to form close interpersonal relationships leading to marriage

9. Diagnosis2Before Birth Down Syndrome • Before Birth • Maternal Serum Levels tested in second trimester. “triple screen” • Alpha-fetoprotein & unconjugated estriol- usu lower than norm • Beta-human chrionic gonadotropin- usu higher than norm • Ultrasound Examination in second trimester for: • Nuchal translucency3 • Short femurs • Cardiac anomalies • Duodenal atresia

10. Diagnosis Cont.2Before Birth • Women over 35 • Diagnostic Prenatal testing • Chorionic villus sampling 9-11 wks gestation • Amniocentesis 16-18 wks gestation • Tests yield fetal cells from which chromosomal abnormalities can be identified.

11. Research on Screening4 • Integrated Screening for Down’s Syndrome Based on Tests Performed during the First and Second Trimester • Screening is used during the first trimester and second trimester to decide if amniocentesis or chorionic-villus sampling is needed. • This study proposed a new screening method where information integrated measurement from both trimesters to decide the chance of the mother carrying a child with DS.

12. Research on Screening4 • Then, Current test • 5 percent screened women need to have an amniocentesis for 60-80% of fetuses with DS to be detected. • False positive testing- .9 in 100 women who undergo amniocentesisand 1.4 in 100 who have chorionic-villus sampling have miscarriages. • Goal of new integrated test is to accomplish the rate of detection that equals amniocentesis/chrorionic-villus testing but with a lower false positive rate.

13. Integrated Screening4 • Now used regularly as a screen. • Identifies fetuses with DS 85% of the time and has a rate of 1% that results will be false positive. • Involves two stages: • One done between 10 weeks, 4 days and 13 weeks, 6 days

14. Integrated Screening4 • Stage one: 10 wks, 4 days and 13 wks, 6 days • Genetic counseling and medical history • Special ultrasound which measures baby Nuchal translucency • Blood sample • Stage two: 15-16 wks, no later than 21 wks • Second blood sample • Test for 4 different protein levels

15. Diagnosis cont.2After Birth • After Birth-based on physical features, confirmed by genetic karyotyping. • Hypotonia • Brachycephaly • Oblique palpebral fissures • Hyperflexibility • Flat nasal bridge • Simian (palmer) crease

16. Common Physical Characteristics2

18. Cognitive Characteristics1 • All people with DS experience cognitive delays • Usually mild to moderate • Not indicative of strengths and talents Video http://www.youtube.com/watch?v=-_-P4t2jR1g

19. Prognosis • With early intervention, we expect a fair prognosis, although: • Permanent, no cure • Progressive • Age faster • Effects of aging are more dramatic • Function declines with age • Increased risk for Alzheimer Disease

20. Pathology2 • 95%- Trisomy due to nondisjunction of chromosome 21 in oocyte or spermatocyte • 4-5%-Translocation of one chromosome 21 to another (usu chromo 14 or other 21) • 1%-Mosaics caused by nondisjunction after conception

21. Atlantoaxial Instability5 • Present in 10-20% of population with DS • Instability due to ligamentous laxity, odontoid maldevelopment, or abnormal syringomyelia • Xray of cervical spine needed to diagnose • Needed before participate sports or any activity that would result in a downward force of cervical area • Subluxation of cervical vertebrae more than 4.5 mm indicates need for intervention

22. Activities Contraindicated5 • Transportation in car/bus • Riding carnival rides • Rollercoaster, carousels, etc. • Family education on this subject is very important

23. Incidence6 • DS is most common chromosomal cause of developmental delay. • According to Barnhart and Connolly: • 1/700-1000 live births • >350,000 Americans • Life Expectancy • 1929 = 9 years • 1949 = 12 years • 1982 = 35 years • 2006 = 55 years

24. Conditions Associated With DS6 • Physical Conditions • Thyroid Dysfunction • Cardiovascular Disorders • Obesity • Auditory dysfunction • Visual Impairments • Skin Disorders • Alzheimer’s Disease

25. PT implications6 • Thyroid Dysfunction • affects 20-28% of children • Majority have hypothyroidism • Implications • Less energy • Often Less Motivation • Increased Weight gain • Bradycardia

26. PT implications6 • Cardiovascular Disorders • Mitral Valve Prolapse • Lower Peak Oxygen Consumption, minute ventilation, and HR during exercise • Implications • Can cause fatigue, irritability, weight gain • Lower levels of fitness • Activity/Job related limitations

27. PT Implications6 • Auditory dysfunction, Visual Impairments • Implications • Physical therapists need to be aware of the vision/auditory problems which occur in DS children and keep this in consideration when treating them.

28. The Eye and Downs Syndrome7 • Literature Review • Features impacting Vision • Refractive errors • Hypermetropia, myopia, astigmatism • 30% of population with DS has myopia • Strabismus and amblyopia • Squints and a defective vision in one or both eyes, respectively • Squints corrected by wearing glasses • Amblyopia corrected by occlusion treatment

29. Cataracts (congenital) • Nystagmus • Keratoconus • Corneal abnormality characterized by central corneal thinning which deforms the shape of the cornea

30. Other ocular features • External appearance • Outer canthus of eyelid is around 2 mm higher than the inner canthus • Epicanthis folds • Iris abnormalities • Brushfield spots • Blepharitis • Retinal abnormalities

31. APTA Practice Patterns8 • 4C: Impaired Muscle Performance • 5B: Impaired Neuromotor Development (cardiac anomaly) • 6B: Impaired Aerobic Capacity/Edurance Associated with Deconditioning • 6D: Impaired Aerobic Capacity/Endurance Associated with Cardiovascular Pump Dysfunction or Failure (cardiac Anomaly)

32. NCMRR model • Pathology: Down Syndrome • Impairment: Decreased STR, ligamentous laxity, Hypotonia, Lower Cardiovascular Capacity • Functional: Difficulty sitting and reaching developmental goals • Disability: Inability to play and interact with other children • Societal Limitations: Slower progression in development, can ultimately lead to more limitations later on in life, Societal Stereotypes

33. Treatment/Interventions9 • No known cure, tx aimed toward specific medical problems associated, and developmental issues5 • Aerobic capacity/endurance conditioning • Aquatic therapy, gait training • Balance, coordination and agility • Motor control/learning, developmental activities training • Strength, power and endurance training for head, neck, limb, trunk • Therapeutic exercise, aquatic programs, task-specific performance training

34. Treatment/Interventions9 • IADL Training • Structured play for infants and children • Devices and equipment use and training • Injury prevention • Injury prevention education during play or school • Safety awareness during play or school • May need team therapy (speech or OT) • Closed, structured Environment

35. Treatment/Intervention9 • Summary • Prompt referral to early intervention is key1 • Minimize developmental delay • Child’s social quotient may be improved

36. Connolly et. al.10 • set out to compare DS with EI to DS without EI • Comparison weak • EI group had greater improvements in Gross and fine motor skills over the duration of the study • EI group did not show the decline in adaptive function typically seen with DS • 20% of comparison Profoundly retarded vs. 0% • Average age of comparison was 8 yrs older than EI group

37. Ulrich et. Al. 200811 • Purpose • to test the effects of individualized, progressive more intense treadmill training on developmental outcomes in infants with DS. • Method • 30 infants with DS via parent support groups • Two groups • High-intensity individualized (HI) = 16 • Low-intensity generalized (LG) = 14 • Criterion for starting the treadmill intervention was the ability to take 6 supported steps in a given minute on the treadmill. For most, about 10 months of age

38. Ulrich et. Al. 200811Effects of Intensity of Treadmill Training on Developmental Outcomesand Stepping in Infants With Down Syndrome: A Randomized Trial • Procedure • Family given infant-sized treadmill and instructed on how to hold baby on treadmill • Treadmill Training continued until baby could take 3 steps independently • LG = 8 min/day 5days/week at constant speed • HI = same with progression. Added ankle weights, increased speed, and increased daily duration • Results • They used items 8 items from Bayley Scales of infant development • infants In the HI group acquired the locomotor milestones earlier than LG group.

39. Shumway-Cook et al 198512 • Dynamics of Postural Control in the Child with Down Syndrome • Delayed dynamic and static posture due to hypotonia • 17 children, ages 15 mths to 6 years • PT should focus in different areas: • Development and refinement of postural skills • Improving organizational processes adapted while changing a posture

40. Goals • LTG: • 1. pt to ambulate 20 steps independently in 4 wks • 2. pt to demo constant dynamic posture while standing/sitting in 4 wks • STG: • 1. pt to stand while maintaining balance for 10 min 3 x per day in 2 wks • 2. pt to perform weight shift exercises (left to right and front to back) in sitting/standing once every four hours in 2 wks.

41. Early Childhood Intervention(ECI)13 • What is ECI? • statewide program for families with children, birth to three, with disabilities and developmental delays. • Vision Statement • ECI...An investment in babies today for a better Texas tomorrow. • Mission Statement • ECI assures that families with young children with developmental delays have the resources and support they need to reach their goals.

42. ECI13 • Goals • promoting development and learning, • providing support to families, • coordinating services, and • decreasing the need for costly special programs.

43. ECI eligibility13 • Determining eligibility • Eligibility determined based on • Developmental Delay • Cognitive, Motor, Communication, Social-emotional, Self-help • Atypical Development • Sensory-motor • Tone, reflex and postural response, oral motor, sensory integration • Language or cognition • Attention span, language processing • Emotional /social patterns • Medically Diagnosed condition • High probability of developmental delay….automatic

44. ECI Services13 • Assistive Technology: Services & Devices • Audiology • Developmental Services • Early Identification, Screening & Assessment • Family Counseling • Family Education • Medical Services (diagnostic or evaluation services used to determine eligibility) • Nursing Services • Nutrition Services • Occupational Therapy • Physical Therapy • Psychological Services • Service Coordination • Social Work Services • Speech-Language Therapy • Vision Services

45. ECI Cost13 • Free Services • Evaluation/assessment • Development of the Individual Family Service Plan (IFSP) • Service coordination • Translation and interpretation services, if needed • Services for children with auditory and visual impairments who are eligible for services from ECI and local school districts • Services for children in foster care or in conservatorship of the state • children enrolled in Medicaid or CHIP, or whose income is below 250% of the Federal Poverty Level

46. ECI Cost13 • Cost share sliding fee scale • Based on • Family size • Net income (after allowable deductions)

47. Take Home Message • Early Intervention • Treatment targeted at specific health conditions to limit current and future limitation limitations • Help is available • Changing Minds • http://www.youtube.com/watch?v=M_vHGmPUhQ0&feature=related • Ginkgo Biloba, Prozac, focalin, posphatidylcholine

48. References 1National Down Syndrome Society. About Down Syndrome. National Down Syndrome Society. 2009. Available at http://www.ndss.org/. Accessed March 10, 2009. 2 Saenz RB. Primary Care of Infants and Young Children with Down Syndrome. American Family Physician. 1999;59(2):381-390 3 Berger A. What is Nuchal Translucency. British Medical Journal. 1999;318:81 4HackshawAK, Wald NJ, Watt HC. Integrated Screening for Down’s Syndrome Based on Test performed during the First and Second Trimesters. The New England Journal of Medicine. 1999;341:461-467. 5Blumhagen J, Rosenbaum D, King H. Atlantooccipital Instability in Down Syndrome. American Journal of Roentgenology. 1986;146:1269-1272. 6 Barnhart CR, Connolly B. Aging and Down Syndrome: Implications for Physical Therapy. Journal of Physical Therapy. 2007;87:1399-1406 7 Barnes J, Liyanage S. The eye and Down Syndrome. British Journal of Hospital Medicine. 2008;69: 632-634. 8 Goodman C, Fuller K, Boissonnault W. Pathology: Implicatoins for the Physical Therapist. Pennsylvania: Saunders;2003(2) 9APTA. Guide to Physical Therapy Practice. Virginia:APTA;1998

49. References 10 Connolly BH, Morgan SB, Russell F, Fulliton WL. A Longitudinal Study of Children with Down Syndrome Who Experienced Early Intervention Programming. Journal of Physical Therapy. 1993;73:170-181 11 Angulo-Barroso R, Lloyd M, Looper J, Tiernan C, Ulrich D. Effects of Intensity of Treadmill Training on Developmental Outcomes and stepping Infants with Down Syndrome: A randomized Trial. Physical therapy Journal.2008;68:114- 122. 12 Shumway-Cook A, Woollacott M. Dynamics of Postural Control in the Child with Down Syndrome.Physical Therapy Journal.1985;65:315-1322. 13 Texas Department of Assistive and Rehabilitative Services. What is ECI. Texas Department of Assistive and Rehabilitative Services. 2009. Available at http://www.dars.state.tx.us/ecis/. Accessed March 7, 2009.