Turner Syndrome

What is Turner Syndrome?

Turner Syndrome is a genetic chromosomal disorder in which all or part of one of the sex chromosome is absent. Typical females have two X chromosomes whereas individuals with Turner Syndrome present with only one X chromosome or there are significant abnormalities with the other. The syndrome only occurs in females and has an estimated prevalence rate of 1 out of every 2,500 girls.

What are some symptoms of Turner Syndrome?

Individuals with Turner Syndrome often present with physical symptoms, health related symptoms, and also concerns with regard to their cognitive and academic functioning.

The physical symptoms associated with females who have Turner Syndrome include: short stature, broad chest, low hairline, low set ears, and a webbed neck.

Women with Turner Syndrome often face a variety of health concerns including: congenital heart disease, hypothyroidism, diabetes, vision problems, hearing concerns, and a variety of autoimmune disorders.

Individuals with Turner Syndrome often experience a variety of cognitive and academic deficits including concerns with visual-spatial functioning and deficits with mathematics achievement.

Can the syndrome be managed?

There is no cure for this genetic condition. Generally speaking, many of the health-related issues associated with Turner Syndrome are manageable. There are some effects of the condition, however, which can be life threatening—an affected child should, thus, be frequently evaluated by a pediatrician. The cognitive and academic concerns associated with the condition are often addressed in the school setting through academic accommodations or special education support.

How can I help treat my child’s condition?

Medication can be used to minimize harmful symptoms and consequences of the syndrome. Growth hormone injections are often incorporated into a patient’s treatment plan in order to stimulate growth.

Our approach at North Shore Pediatric Therapy

At North Shore Pediatric Therapy, we administer comprehensive neuropsychological evaluations in order to identify specific strengths and weakness that a child with Turner Syndrome presents. We then determine the most effective, inclusive methods for successful treatment.