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Case Study x. Kristen Martin & Jessica Wells. 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. Observation. Physical Features

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case study x

Case Study x

Kristen Martin & Jessica Wells

18 month old female alexandra
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
observation
Observation
  • Physical Features
    • Thin philtrum
    • Microcephaly
  • Slow Growth
examination
Examination
  • Denver Developmental Screening Test (Denver II)
    • Personal – Social
    • Gross Motor
    • Fine Motor
    • Language
gross motor
Gross Motor
  • What She Can Do:
    • Kicks ball forward
    • Walks up steps
    • Runs
    • Walks backwards
  • Trouble With:
    • Throwing ball overhand
fine motor
Fine Motor
  • What She Can Do:
    • Tower of 2 cubes
    • Put block in cup
    • Scribble
  • Trouble With:
    • Dump raisin
    • Tower of 4 cubes
neurological examination
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
results 1
Results1
  • Developmental Delay
  • Fine motor is significantly delayed- 25th percentile
  • Gross motor is not as affected- 75th percentile
fetal alcohol syndrome fas 2
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
terms 2
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.
growth deficiency 2
Growth Deficiency2
  • Affects hypothalamus  suppression of growth hormone release
  • Growth Deficit
  • Microcephaly
  • Most consistent finding in infants of alcoholic mothers
cns dysfunction 2
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
cns dysfunction 21
CNS Dysfunction2
  • Infants
    • Irritability
    • Sleeping Difficulties
    • Feeding Difficulties
  • Preschool
    • Hyperactivity
    • Language Delay
    • Articulation Problems
    • Poor Motor Coordination
    • Developmental Delay
cns dysfunction 22
CNS Dysfunction2
  • Ongoing Deficits
    • Memory
    • Attention
    • Motor Skills
    • Visual-Spatial Abilities
    • Learning
  • Psychosocial Deficits
    • Psychiatric Disorders
    • Trouble with Law
    • Alcohol/Drug Use
    • Maladaptive Behavior
prevalence 3
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
how much alcohol is ok 4
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.
ncmrr disability model
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
ncmrr disability model1
NCMRR Disability Model
  • Disability
    • Unable to have adequate social interactions
  • Societal Limitation
    • Isolated in classroom setting
    • May require more assistance for learning (aid)
apta practice pattern 5
APTA Practice Pattern5
  • 5B Impaired Neuromotor Development
    • ICD-9: 760 Fetus or newborn affected by maternal conditions
prognosis
Prognosis
  • Good
    • Her current familial support and environment will facilitate improvement in her conditions
    • Early intervention
    • Multidisciplinary intervention (PT, OT, ST)
family goals
Family Goals
  • Improve language
  • Prevent clumsiness
  • Play with peers
  • Feed herself with utensils
  • Toilet training
  • Improve social behavior
pt goals
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.
pt goals1
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.
treatment
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
treatment1
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
advice to parents
Advice to Parents
  • Help Alexandra become independent in daily activities
    • Feeding
  • Do activities outside
  • Encourage social interaction
  • Encourage verbal communication
adopting a child with fas 7
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
adopting from russia 8
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
references
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.
references1
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.