Case Study x

1. Case Study x Kristen Martin & Jessica Wells

2. 18 Month Old Female: Alexandra • No birth history • Adopted from Russia by a couple in San Antonio • Adoptive parents concerned with physical features • Consult genetics and developmental assessment team

3. Observation • Physical Features • Thin philtrum • Microcephaly • Slow Growth

4. Examination • Denver Developmental Screening Test (Denver II) • Personal – Social • Gross Motor • Fine Motor • Language

5. Gross Motor • What She Can Do: • Kicks ball forward • Walks up steps • Runs • Walks backwards • Trouble With: • Throwing ball overhand

6. Fine Motor • What She Can Do: • Tower of 2 cubes • Put block in cup • Scribble • Trouble With: • Dump raisin • Tower of 4 cubes

7. Neurological Examination • Language • 2 words • Frequent “Melt Downs” • Cannot complete simple puzzle without assistance • Eats with hands • Cannot drink from cup • No interest in toilet training • Easily distracted

8. Results1 • Developmental Delay • Fine motor is significantly delayed- 25th percentile • Gross motor is not as affected- 75th percentile

9. Any Guesses of Alexandra’s Pathology?

10. Fetal Alcohol Syndrome (FAS)2 • Triad of symptoms consisting of: • Characteristic facial dysmorphology • Prenatal and postnatal growth deficiency • CNS Dysfunction • Caused by alcohol rapidly crossing placenta and blood-brain barrier • One of the most common causes of MR • 100% Preventable

11. Terms2 • Fetal Alcohol Spectrum Disorder • Umbrella term describing full range of outcomes observed in those with prenatal alcohol exposure • Fetal Alcohol Effects • Describes children who show less extreme examples of difficulties following exposure • Fetal Alcohol Syndrome • Describes children with the triad of symptoms.

12. Facial Dysmorphology

13. Growth Deficiency2 • Affects hypothalamus  suppression of growth hormone release • Growth Deficit • Microcephaly • Most consistent finding in infants of alcoholic mothers

14. CNS Dysfunction2 • Conception  First Weeks • Cell death or chromosomal aberrations • High rate of miscarriages • 4 to 10 Weeks • Disorganization of tissue structure • Severe cell lossmicrocephaly • 8 to 10 Weeks • Abnormal synapses • Third Trimester • Damage to cerebellum, hippocampus, pre-frontal cortex • See Handout

16. CNS Dysfunction2 • Infants • Irritability • Sleeping Difficulties • Feeding Difficulties • Preschool • Hyperactivity • Language Delay • Articulation Problems • Poor Motor Coordination • Developmental Delay

17. CNS Dysfunction2 • Ongoing Deficits • Memory • Attention • Motor Skills • Visual-Spatial Abilities • Learning • Psychosocial Deficits • Psychiatric Disorders • Trouble with Law • Alcohol/Drug Use • Maladaptive Behavior

18. Prevalence3 • 1 to 2 infants per 1,000 live births • Occurs more often than the 2 most common birth defects (down syndrome and spina bifida) combined • Risk Factors: • Low socio-economic status • Unemployment • Use of tobacco and/or illicit drugs • Hx of frequent or binge drinking • Depression

19. How Much Alcohol is OK?4 • Varied opinions • Better safe than sorry • It should be avoided throughout the pregnancy • Modify clinical practice • FAS awareness & prevention • Screen for substance abuse • In a survey of OBGYNs, Diekman and colleagues found that only 20% endorsed abstinence from alcohol as a way to avoid problems in pregnancy.

20. NCMRR Disability Model • Pathophysiology • Fetal Alcohol Syndrome • Impairment • Fine Motor Deficits (from Denver) • Developmental Delay (language & social) • Impaired arousal, attention, and cognition • Functional Limitation • Clumsiness in play • Unable to verbally express needs

21. NCMRR Disability Model • Disability • Unable to have adequate social interactions • Societal Limitation • Isolated in classroom setting • May require more assistance for learning (aid)

22. APTA Practice Pattern5 • 5B Impaired Neuromotor Development • ICD-9: 760 Fetus or newborn affected by maternal conditions

23. Prognosis • Good • Her current familial support and environment will facilitate improvement in her conditions • Early intervention • Multidisciplinary intervention (PT, OT, ST)

24. Family Goals • Improve language • Prevent clumsiness • Play with peers • Feed herself with utensils • Toilet training • Improve social behavior

25. PT Goals • LTG: • Pt will be able to feed herself 10 bites of food using proper utensils in 5 weeks in order to increase independence in home environment. • STG: • Pt will be able to grasp utensil for 10 seconds in 1 week. • Pt will bring utensil to mouth in 2 weeks.

26. PT Goals • LTG: • Pt will be able to throw a 4 in. ball overhand to PT (4 feet away) in 4 weeks to facilitate social play with peers. • STG: • Pt will be able to grasp 4 in. ball with single hand in 1 week. • Pt will be able to roll ball across floor in 2 weeks.

27. Treatment • Functional Play • Throwing balls • Shape Puzzles • Stacking blocks • Stringing beads • Feeding a doll • Coordination • Obstacle course • Kicking a ball • Ambulation on dynamic surfaces • Sensory Integration • Aquatic Therapy

28. Treatment • Part Practice with Rehearsal Training6 • Many repetitions because of memory deficits typically found in children with FAS • Emphasize Social Interaction • Siblings or other pt involved in tx • Emphasize Use of Language • Encourage pt to use words while performing the movement

29. Advice to Parents • Help Alexandra become independent in daily activities • Feeding • Do activities outside • Encourage social interaction • Encourage verbal communication

30. Adopting a Child with FAS7 • Unknown to adoptive parents/agency • Frequent relocations within foster care system • Support groups for adoptive parents with special needs children • Social stigma

31. Adopting from Russia8 • FAS rates significantly higher in Russia • 10-15 infants per 1,000 births • 8 times greater than the worldwide incidence • Why? • A large increase in alcoholism in women • Adolescent and middle-aged pregnancies are on the rise in Russia • Lack of awareness • Videos • http://www.youtube.com/watch?v=JLvie-vqX0g

32. References • 1 Kalberg, W. , Provost, B., Tollison, S.J. Comparison of motor delays in young children with fetal alcohol syndrome to those with prenatal alcohol exposure and with no prenatal alcohol exposure. Alcoholism: Clin and Exper Research. 2006; 30:2037-2045. • 2 Niccols A. Fetal alcohol syndrome and the developing socio-emotional brain. Brain and Cognition. 2007; 65: 135-142. • 3 Moore KL, Persaud TVN. The Developing Human: Clinically Oriented Embryology. 8th ed. Philadelphia, PA: Saunders Elsevier; 2008. • 4 Arendt R, Farkas KJ. Maternal alcohol abuse and fetal alcohol spectrum disorder: a life-span perspective. Alcoholism Treatment Quarterly. 2007; 25: 2-16. • 5 APTA. Guide to Physical Therapist Practice. 2nd ed. Phys Ther. 2001; 81:9-744. • 6 Loomes C, Rasmussen C, Pei J, et al. The effect of a rehearsal training on working memory span of children with fetal alcohol spectrum disorder. Research in Dev Disabil. 2008; 29: 113-124. • 7 Toutain S, Lejeune C. Family management of infants with fetal alcohol syndrome or fetal alcohol spectrum disorders. J Dev Phys Disabil. 2008; 20: 425-436. • 8 Aronson J. Alcohol Related Birth Defects and International Adoption. Available at: http://www.russianadoption.org/fas.htm. Accessed on March 8, 2009.

33. References • Campbell S, Vander Linden DW, Palisano RJ. Physical Therapy for Children. 3rd ed. St. Louis, Missouri: Saunders Elsevier; 2006. • Gahagan, S., Sharpe, T.T., Brimacombe, M. Pediatricians’ knowledge, training, and experience in the care of children with fetal alcohol syndrome. Pediatrics. 2006; 118:657-668. • Gohlke JM, Hiller-Sturmhofel S, Faustman E. A systems-based computational model of alcohol’s toxic effects on brain development. Alcohol Research and Health. 2008; 31: 76-83. • Jacobson SW, Stanton ME, Molteno CD, et al. Impaired eyeblink conditioning in children with fetal alcohol syndrome. Alcoholism: Clin and Exper Research. 2008; 32: 365-372. • Moore ES, Ward, RE, Wetherill LF. Unique facial features distinguish fetal alcohol syndrome patients and controls in diverse ethnic populations. Alcoholism: Clin and Exper Research. 2007; 31:1707-1713. • Sharpe TT, Velasquez MM. Risk of alcohol-exposed pregnancies among low-income, illicit drug-using women. J of Women’s Health. 2008; 17: 1339-1344.

34. Any Questions?