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

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

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: 1/5000-1/12000. Studies from UK and Denmark show 1/20000-1/29000. US alone shows 1/12048

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

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

Club Foot Clinched Fists Ptosis Micrognathia

Hypotonia

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

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

“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

References Adams DM, Winslade WJ. (2011). Consensus, clinical decision making, and unsettled cases. J Clinical Ethics; 22(4):310-27. Berg SF, Paulsen OG, Carter BS (2012). Why were they in such a hurry to see her die? American Journal of Hospice. 30(4):406-408. 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):387-91. 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: 1372-1380. Kumar, P (2011). Care of an infant with lethal malformation: Where do we draw the line? Pediatrics; 128(6):e1642-3. Leuthner SR (2004), Palliative care of the infant with lethal anomalies. Pediatric Clin North Am; 51(3):747-59. 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: 10.1542.