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Triple X syndrome, trisomy X most commonly known as XXX is rarely diagnosed and rarely understood, it is believed that only 10% of females are diagnosed.

A diagnosis of XXX in children and adults is often not common and often overlooked, since there is often no medical reason to test for XXX syndrome. It is no surprise, given the vast range of serious medical conditions affecting human beings, that many medical professionals are perhaps only vaguely familiar with X and Y chromosome variations, a health professional and health care provider’s learning are never done.

XXX is a rare chromosomal variant that affects 1:1000 females. Unfortunately for many female individuals they live their lives never knowing they have an extra X chromosome and therefore don’t engage with and seek appropriate treatment and intervention. Due to the subtle physical changes XXX is often misdiagnosed. Due to misdiagnosis or undiagnosed many adults with XXX lead their lives with no or very little support and understanding and may suffer from extreme tiredness or lethargy, depression, learning difficulties, mood swings and mental health conditions that lead to social isolation and difficulties in the workplace and in their community.

Health care providers play an integral role in a child and individuals’ life who has XXX, they are vital to ensure that rates of early diagnoses significantly increase and are also key to ensure that the health risk of XXX are minimised and managed.

What are common signs and symptoms for a child or individual with a diagnosis of XXX?

It is important to remember that XXX is a spectrum, so not all suffer from these signs and symptoms and some may be affected mildly while others quite significantly.

  • Hypotonia (low muscle tone)
  • Tiredness and fatigue
  • Taller than average height
  • Longer than normal legs
  • Hypertelorism (wide spaced eyes)
  • Pectus excavatum (abnormally shaped chest wall and ribcage)
  • Poor concentration, ADHD is very common
  • Clinodactyly: Curved pinky finger
  • Speech and language delays
  • Learning difficulties usually associated with spelling, reading and writing, often with a diagnosis of dyslexia
  • Lack of co-ordination (dyspraxia)
  • Difficulty expressing themselves
  • Difficulties processing information – especially verbal instructions
  • Poor social development
  • Sadness, lowered mood or depression and anxiety
  • Poor communication and social skills
  • Pes plantus (flat feet)

Prenatal Diagnoses

What health care professionals should be involved in a prenatal diagnosis of XXX?

Health professionals that should be involved are:

  • Obstetrician
  • GP
  • Midwife (depending on the model of care expectant parents choose)

A pregnancy with an unborn child with a XXX diagnoses is not unlike any other pregnancy, there is no need for additional support or intervention due to this prenatal diagnosis alone.

Children

What health care professionals should be involved in a child’s life who has XXX?

Essential health care provider team:

  • GP: For regular check-ups, health checks, referrals to appropriate specialists and services and for the development of chronic disease management plans and mental health care plans if required.
  • Paediatrician
  • Maternal and child health Nurse
  • Potential health care provider and early intervention services team:
  • Speech therapist
  • Occupation therapist
  • Physiotherapist
  • Psychologist or Psychiatrist
  • Podiatrist
  • Early educator support

Adolescents and adults

What health care professionals should be involved in an adolescent and adult who has XXX?

Essential health care provider team:

  • GP: For regular check-ups, health checks, referrals to appropriate specialists and services and for the development of chronic disease management plans and mental health care plans if required.
  • Paediatrician up until 18 years old
  • Potential health care providers team:
  • Speech therapist
  • Occupation therapist
  • Physiotherapist
  • Psychologist or Psychiatrist
  • Podiatrist
  • Educational support in school and throughout further education
  • Individual tutor
  • Vocational support

What are common health implications for a child and individual with a diagnosis of XXX?

Health risks are not common, but it appears that some disorders, such as autoimmune problems (lupus or rheumatoid arthritis) may be seen more often. While rare, seizure disorders, cardiac problems, and genitourinary disorders (i.e. kidney malformations) may be slightly more common. Mood disorders, including depression, anxiety and bipolar disorder, appear to be much more common among girls and women with XXX than in the general population, although this has not yet been studied rigorously enough to quantify. It is believed that infertility and premature ovarian failure are more commonly seen in women with XXX.

Health care providers can have a huge positive impact on a person’s life who has XXX. An earlier diagnosis provides opportunities for the child and his family to access treatments and interventions that can help overcome any difficulties associated with the condition. A collaborative approach is essential to decrease the stress and burden and health implications for those with XXX.

Together we can all make an immense positive change to increasing early diagnoses and decreasing the health impacts that XXX has on a child and individual.