Health Professionals for XYY

Jacob’s syndrome most commonly known as XYY is rarely diagnosed and rarely understood, it is believed that only 12% of males living with XYY are ever diagnosed.

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.

XYY is a rare chromosomal variant that affects 1:1000 males. Unfortunately for many male individuals they live their lives never knowing they have an extra Y chromosome and therefore don’t engage with and seek appropriate treatment and intervention. Due to the subtle physical changes XYY is often misdiagnosed. Due to misdiagnosis or undiagnosed many adults with XYY 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 XYY, they are vital to ensure that rates of early diagnoses significantly increase and are also key to ensure that the health risk of XYY are minimised and managed.

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

It is important to remember that XYY 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)
• Speech delay/expressive language disorder: are very common
• Mild autism
• Developmental delays e.g. Grabbing objects, crawling, walking, talking etc.
• Learning difficulties usually associated with spelling, reading and writing, often with a diagnosis of dyslexia
• Attention deficits: This is very common with many children diagnosed with ADHD
• Sadness, lowered mood or depression and anxiety: A very common affect seen in children, adolescents and adults
• Sensory processing challenges: Are common and may include aversion to loud noises or over stimuli in busy environments
• Social and interaction difficulties: This is often as a result of the above listed
• Behavior challenges: which can include an explosive temper, hyperactivity, impulsivity, defiant actions, emotional difficulties, or in some cases, antisocial behaviour
• Poor communication and social skills
• Hand tremor
• Pes plantus (flat feet)
• Cystic acne in adolescence

Prenatal Diagnoses

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

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 XYY 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 XYY?
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 XYY?
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 XYY?

There are few health risks associated with XYY, except for the tendency of very severe acne in adolescence that may cause scarring. Mood disorders, including depression, anxiety and bipolar disorder, appear to be much more common among boys and men with XYY than in the population as a whole, although this has not yet been studied rigorously enough to quantify.

Health care providers can have a huge positive impact on a person’s life who has XYY. 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 XYY.

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

Additional Resources