XXX

Triple X syndrome also known as trisomy X or 47,XXX is a chromosomal abnormality where an individual has an additional extra X chromosomes in each of a females cells.

Usually a person has 46 chromosomes in each cell, divided into 23 pairs which includes 2 sex chromosomes. The chromosomes contain genes which determine an individual’s characteristics such as eye colour and height. Girls typically have 2 X chromosomes (XX) but girls with XXX syndrome have an extra X chromosome XXX. It is a genetic condition found in females only. Prevalence is about 1 in 1,000. Occasionally the extra chromosome happens from an incorrect cell division early in embryo development where only some cells have the extra X, this is called the mosaic form and has less obvious symptoms.

• Who is affected
• Causes
• Signs and symptoms
• Misconception
• Diagnosis
• Treatment
  

Who is affected

XXX syndrome is a chromosomal disorder present at birth that affects only 1:1,000 and only females.

Causes

Girls with triple X syndrome are born with it and it is usually caused by a malformation of the egg or sperm or by an error early in embryo development. The extra X chromosome is in most or all of their cells. Triple X is not caused by anything the parents did or didn’t do and is a random error in cell division.

When the extra chromosome is due to incorrect cell division in the embryo, a girl may have a mosaic form of triple X syndrome. This means some of the cells have and extra X chromosome, but not all do. Girls with this type of triple X syndrome usually have fewer symptoms.

Signs and symptoms

Characteristics of triple X syndrome can vary greatly. Some girls have no obvious signs, while others have mild symptoms, whilst occasionally the disorder causes significant problems.

Girls with triple X syndrome can have some or all of the following physical symptoms; including starting out with a slight and subtle delay in the growth process which eventually leads to taller than average height (usually very long legs), low muscle tone or muscle weakness (called hypotonia), very curvy pinky finger (called clinodactyly) and widely spaced eyes (called hypertelorism).

Additionally, an individual with triple X syndrome may also have delayed development of their social, language and learning skills including problems with the spoken language and processing spoken words. They can also have problems with reading and understanding maths and have mild delays with co-ordination. The average IQ in an individual with triple X is slightly lower than normal.

A female with this condition may also develop anxiety, depression and attention deficit hyperactivity disorder (ADHD). These problems might ease as they get older and reach adulthood. Otherwise treatment can be helpful in managing symptoms.

Generally, someone with triple X has no problems in getting pregnant and they can expect to have a healthy pregnancy. Premature ovarian failure on the other hand is more common than in the general population. Less often girls might have abnormal development of the ovaries and/or uterus, frequent urinary tract infections (UTIs), stomach pain, constipation, flat feet, and an abnormally shaped chest wall and ribcage (called pectus excavatum).

From a young age a girl with triple X syndrome can develop speech, learning or social challenges which can make them more likely to have low self- esteem and lead to school or social problems.
Despite these problems most girls with triple X syndrome can grow up healthy, have normal sexual development and fertility and lead productive lives.

Diagnosis

Prenatal testing is significantly increasing due to its availability and continued advancements. Many expectant parents are completely unaware that these tests can also identify X & Y sex chromosome variations. These tests can be obtained via analysis of the mother’s blood known as the Harmony test or NIPT. The results can give a percentage of likelihood of a triple X syndrome diagnosis. Diagnoses isn’t confirmed until further testing is obtained. The options available are, the analysis of amniotic fluid via amniocentesis or analysis of tissue samples from a portion of the placenta via chorionic villus sampling (CVS). These tests are invasive and can have a small risk of causing a miscarriage. Expectant parents have the option to wait until the baby is born and confirm a diagnosis through the baby’s blood sample.

Baby girls usually have no distinctive features or other health problems that would initiate a diagnosis. Many girls with triple X syndrome are healthy and have no obvious symptoms so the condition may only be diagnosed while a doctor checks for different issues such as developmental delays or because of reproductive problems. It is thought that 90% of people with triple X aren’t diagnosed due to not having any symptoms.

To diagnose triple X syndrome a blood sample (karyotype) is taken and checked for the presence of the extra X chromosome.

Treatment

There is no cure for triple X syndrome, but treatments can help with specific symptoms. Depending on which symptoms a girl has and how severe they are depends on which treatment the Doctor recommends.
Finding and engaging with services early is important and can greatly increase allied health, health professionals and parents ability to help a child with triple X syndrome live a healthier, more productive and fulfilling life. Options vary greatly depending on how old a girl is when she was diagnosed, whether she has noticeable symptoms and the severity of those symptoms.

Treatment can include regular doctor’s and paediatrician visits where they can monitor a girl’s development for delays, social and language challenges, or health problems and treat these promptly and refer them onto the best services. Finding a good GP and Paediatrician can certainly help make the journey easier and also help to ensure these children reach their full potential. Educational support services are also important as they can teach children with a triple X syndrome diagnoses, ways to keep pace in school and offer support and additional tools to those students that are struggling.

Additionally, early intervention services can be extremely helpful and often extremely effective for a girl with a triple X Syndrome diagnoses to have speech, occupational, physical or developmental therapy in the early months of life or as soon as concerns are identified. Speech therapy and physical therapy can improve an individual with triple X’s speaking, reading and writing skills and can help increase strength and co-ordination. Occupational therapy and behavioural therapy can also help an individual with triple X develop more confidence and interaction abilities with other children. Early interventions should be considered at infancy for physical therapy, at 15 months for speech therapy, at 1st grade for reading and learning issues, and as early as identified for anxiety and depression.

Counselling is also important for the whole family to better understand triple X syndrome and help a girl who has it to live a productive, happy and fulfilling life. Counselling and therapy can teach an individual with triple X the practical skills to help her make friends and feel more confident in school and to help combat anxiety and depression.

Early detection and treatment are very beneficial for girls with this condition. In many cases these girls have few issues later in life when identified early and treated appropriately.

With proactive management and effective treatment the impacts XXX/Triple X has on a child and individuals life can be greatly decreased. Most individuals with XXX lead happy and fulfilling lives.

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