Trisomy, What Does It Mean?


The term Trisomy 18 has gotten significant media coverage in the last month as Rick Santorum’s daughter, who was born with the chromosomal disorder, was recently hospitalized. Santorum cites his family’s struggles with his daughter’s medical condition as a partial player in his decision to remove himself from the current political campaign. trisomyBut what, exactly is Trisomy 18 and how does this disorder and others like it effect children? The following is a brief review of three trisomy disorders, from a Speech-Language Pathologist’s perspective.

The Three Trisomy Disorders:

Trisomy 18

Trisomy 18, also known as Edwards syndrome, is a chromosomal disorder (1 in 3000 births) that results from the formation of three copies of a the 18th chromosome, instead of two. Children born with this chromosomal disorder experience significant and life-threatening medical issues which cause high mortality rates; less than 50% of children born with this disorder live past their 1st birthday. Children who do live longer require intensive medical attention to treat kidney and heart defects, digestive issues, as well as complications related to craniofacial anomalies (small jaw, small head, irregular shaped head, or low-set ears). Each child born with this disorder experience individual challenges and treatment should be provided to meet that child’s specific needs.

Trisomy 21

Trisomy 18 is just one of several disorders which result from the creation of a third copy of a specific chromosome at conception. The most common of these disorders is Trisomy 21, or Down syndrome (1 in 800 births). Children born with Down Syndrome also meet many challenges, however these children live into adulthood and are likely to require various levels of medical, therapeutic, and academic support to reach their potential and highest level of independent functioning. Children with Down syndrome experience gross developmental delays as well as a varying degree of intellectual disability. Children with Down syndrome exhibit distinct craniofacial features, including a small oral cavity which impacts speech production and feeding. Hearing concerns are also prevalent in this population of children. These children benefit from speech and language intervention to encourage both increased speech intelligibility as well as to develop higher level language skills.

Trisomy 13

Trisomy 13, or Patau syndrome (1 in 10,000 births) is typically diagnosed before or immediately after a child is born due to the high instance of craniofacial anomalies, including cleft lip and/or palate, small head size, small eyes, and irregular ear shape. Cleft lip and/or palate will cause immediate feeding difficulties for which specialists, including a Speech-Language Pathologist or Occupational Therapist, will be involved in assisting families to ensure safe feeding, often through use of alternative bottle nipples . Many children with Trisomy 13 will have congenital heart defects, defects in the formation of their brains, as well as kidney defects. These children experience a high infant-mortality rate, and those who live through their childhood will experience significant developmental delays, for which a team of professionals including Occupational Therapists, Physical Therapists, Speech-Language Pathologists, Audiologists, Nutritionists, and others should be involved in providing a comprehensive and individualized plan of care.

It is important to note that children born with any of the Trisomy disorders do not experience this chromosomal abnormality due to any actions taken by their parents. It is a chromosomal irregularity that occurs at conception and is not the fault of either parent. Please visit for more information, and to support the children and families affected by these disorders.

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