1. Caring for a Special Needs Child
Terra Spiehs-Garst
MSN, RN, CLC

2. Trisomy 18/13 What it is Impacts on Health Impacts on Development
What this all means for therapy needs

3. Incidence in LIVE births (Carey, 2005)
Trisomy 18: 1/3600-1/8500 across North America, Europe, and Australia. In US alone, 1/6000
Trisomy 13: 1/5000-1/ Studies from UK and Denmark show 1/ / US alone shows 1/12048

4. Characteristics of Trisomy 18 (Carey, 2005)
External
Small head
Low set ears
Small jaw
Cleft Lip/Palate
Widely spaced eyes
Drooping of eyelids
Club feet
Low muscle tone
Clenched hands
Webbing of toes
Joint contractures
Spina bifida
Radial Aplasis
Internal
Kidney Malformations
Heart Defects (VSD, ASD, PDA, heart valve)
Hernias
Mental Retardation
Developmental Delays
Feeding Difficulties
Breathing Difficulties
Seizures
Fluid Pockets in Brain
Intestines Outside Body
Hearing loss
Slow growth
UTI
Scoliosis
Short Sternum

6. Characteristics of Trisomy 13 (Carey, 2005)
External
Orofacial clefts
Small Head size
Eye issues (absent eye, small eyes, faulty retina development)
Characteristic ear shape
Characteristic pal of the hand
Extra Fingers and toes
Rocker Bottom Foot
Wide nasal bridge
Omphalocele
Skin defects
Internal
Congenital heart defect (VSD, ASD, PDA)
Hearing loss
Lung development issues
GERD
Holoprosensephaly
Kidney defects
Feeding difficulties
Apnea
Seizures
HTN
Scoliosis
Mental Retardation
Developmental Delays

8. Club Foot Clinched Fists
Ptosis Micrognathia

9. Hypotonia

10. Important Things (Carey, 2005)
There needs to be a partnership between parents and health care providers
Developmental progress has been shown
Above all, recognize that these children are human beings (Berg, 2012)
Support System is needed for families
Communicate to the child even if you are not sure the child will understand
Collaborate with all care providers to form a cohesive plan
Stay connected to peers to bounce ideas and learn new interventions

11. What families are dealing with (Carey, 2005)
Diagnosis
Idea of “healthy” child no longer exists
Medical prejudice/preconceived ideas/lack of education
Low survival rate
Resuscitation? Surgery? Life support? Hospice? Comfort care?
Physical disabilities
Complex medical issues
What are the best choices
Loss of friends
Judgments and opinions from loved ones
Many care providers to coordinate with

12. “Infants with lethal congenital anomalies and profound neurologic impairment continue to have immense inherent worth as human beings, and these infants are without doubt as deserving of love, care, and dignity as any child”
Dr. John Carey

13. References
Adams DM, Winslade WJ. (2011). Consensus, clinical decision making, and unsettled cases. J Clinical Ethics; 22(4):
Berg SF, Paulsen OG, Carter BS (2012). Why were they in such a hurry to see her die? American Journal of Hospice. 30(4):
Bos AP, Broers CJ et al, (1992). Avoidance of emergency surgery in newborn infants with trisomy 18; 339(8798):913-5
Bruns D (2013). Erring on the side of life: Children with rare trisomy conditions, medical interventions, and quality of life. Journal of Genetic Disorders Genetic Report. 2:1.
Carey J (2005). Trisomy 18 and trisomy 13 syndromes. In Management of Genetic Syndromes 2nd ed. (ed. Cassidy SB and Allanson JE. Hoboken, NJ.
Catlin A,(2010). Trisomy 18 and choices. Adv Neonatal Care; 10(1):32.
Courtwright AM, Laughon MM, & Doron MW (2011). Length of life and treatment intensity in infants diagnosed prenatally or postnatally with congenital anomalies considered to be lethal. J Perinatoloy; 31(6):
Janvier A, Farlow B, & Wilfond B (2012). The experience of families with children with trisomy 13 and 18 in social networks. Pediatrics, 130;293.
Kaneko Y, Kobayashi J, Achiwa I, et al (2009). Cardiac surgery in patients with trisomy 18. Pediatric Cardiology.
Kaneko Y, Kobayashi J, Yamatmoto Y, et al (2008). Intensive cardiac management in patients with trisomy 18 or trisomy 13. American Journal of Medical Genetics. 146A:
Kumar, P (2011). Care of an infant with lethal malformation: Where do we draw the line? Pediatrics; 128(6):e
Leuthner SR (2004), Palliative care of the infant with lethal anomalies. Pediatric Clin North Am; 51(3):
McGraw & Pearlman (2008) Attitudes of neonatologists toward delivery room management of confirmed trisomy 18: Potential factors Influencing a changing dynamic. Pediatrics 123: e547-e548.
Nelson KE, Hexmem KR, Feudtner C (2012). In patient hospital care of children with trisomy 13 and trisomy 18 in the US. Pediatrics; DOI: