Diagnosis in Children with XYY

XYY syndrome also known as Jacob’s syndrome and YY syndrome, is a rarer chromosomal disorder that affects 1:1000 males. For parents receiving an XYY syndrome diagnosis for their child, it can be an extremely challenging time and the start of a difficult time which can evoke a range of emotions.

For some parents they may feel a sense of relief that they finally have a diagnoses and finally have answers. Although for many parents it can be an enormous shock, parents are often frightened, anxious, upset, grieving and feel vulnerable about the unknown. This often is a very challenging and traumatic time in parents lives, there are an enormous amount of questions that run through their minds. A common reaction is to worry about the long term impacts upon the child and the family. Amongst many other concerns parents may wonder: “How will my child go at kindergarten or at school”, “Is there any funding to support my child and family?”, “How will I know if my child needs additional intervention or support?”, “Are we going to cope as a family?”, “Will my child lead a normal and happy life?”.

It is important for parents to give themselves some time to process what they’ve found out and put all the pieces together. They need to remember that their child is still their precious wonderful child, that hasn’t changed just because of a diagnoses, it means that parents are more equipped to know more about their potential challenges and how they can best help them to ensure they reach their absolute fullest potential.

It is valuable for parents to engage with a Genetic Counsellor to discuss the diagnoses and to ask any questions they may have. Genetic counsellors are often a wealth of knowledge and can also guide parents to the right support networks in their areas.

For parents, that initial whirl wind of emotions and seeking knowledge on what is Jacob’s Syndrome can be overwhelming, daunting and exhausting. For many it is just the start of a long journey to reaching out and implementing the most appropriate support networks and support team for their child.

What next after a diagnosis?

Post diagnosis, the focus is usually on the child (quite rightly), and parents are often forgotten in the mix. Some parents work very hard to ensure the best interventions and support are put into place.

However, in an attempt to survive, parents often forget about their own emotional needs, it is essential that parents keep an eye on their own mental and physical wellbeing. If they feel like they need extra emotional support they should consider seeing a counsellor or a psychologist, often reliable and supportive friends are a good avenue for additional support. AXYS are also here for parents, grandparents, siblings and extended family members to provide a wealth of knowledge and support. We can provide one on one phone or email support and also have casual catch ups and information sessions, or alternatively a peer-support Facebook group.

Sex chromosome disorders can often be a sensitive topic. Some parents want to advocate and educate about their child’s variation; others prefer not to discuss it, for the sake of their child’s privacy. It is up to parents to decide on the best approach for their family and child and is their decision.

Life does not stop with the discovery of an Y chromosome, nor will your child stop growing. Life will be different, but not without many of the same joys and challenges that all parents feel in their children’s lives.

The most important thing to remember is that Jacob’s Syndrome, while it has a very wide range of effects, signs and symptoms, and which the severity varies from person to person, however, by far is a more milder syndrome. Many of our members are successful in their chosen fields of employment and in their personal relationships but others struggled at school, find it difficult to maintain relationships and may need some level of support throughout their lives.

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Receiving a diagnoses as a parents it extremely challenging but also arms them with the knowledge and tools to support their children. We know that early diagnosis and appropriate support and early childhood intervention can make a huge difference, children with an earlier diagnosis are the lucky ones and more often than not lead a fun and fulfilling life.

Who should be involved in the care of a child with Jacobs Syndrome (47XYY)?

• GP: Needs to understand the potential health impacts of Jacobs Syndrome.
• Paediatrician: Ideal if they are knowledgeable on Jacobs Syndrome.
• Paediatric Endocrinologist: Knowledge on Jacobs Syndrome is may be important, as recent recent indicates mildly lower testosterone from adolescence.
• Early childhood intervention team: A speech therapist, occupational therapist or physiotherapist may be required as part of your child care team if delays are identified

Here are some key things for parents with a new diagnosis to focus on and ask themselves:

• How are you feeling?
• What support do you and your child need?
• How to discuss the diagnosis with family?
• Practical tips and hints on how to manage school and professional relationships
• Getting the right collaborative health care team together
• Getting the most out of the system to support your child now, what funding is available?

Common Childhood difficulties

Common traits in Jacob’s Syndrome can include a higher likelihood of certain developmental and learning differences. It’s important to remember that every child is unique — some children may experience several challenges, while others may experience very few or none at all.

Research and lived experience within the XYY community suggest an increased likelihood of:

• Attention-Deficit/Hyperactivity Disorder (ADHD)
• Developmental Coordination Disorder (DCD) (formerly known as dyspraxia)
• Dyslexia
• Dysgraphia
• Mild Speech Difficulties or Social communication difficulties

The positive aspect of knowing this early is awareness. An early diagnosis gives parents the opportunity to monitor development proactively and seek assessment if concerns arise. Early identification and intervention can significantly improve outcomes, build confidence, and reduce secondary issues such as anxiety or low self-esteem.

If you notice:

• Difficulty sitting still, concentrating, or managing impulses
• Clumsiness or unusual gait, poor balance, or tiring quickly with physical activity (gross motor skills — e.g., running, jumping, walking short distances, participating in sport)
• Difficulty with fine motor tasks (e.g., handwriting, using buttons or zippers, cutlery skills, tying shoelaces)
• Delays in speech or difficulty expressing thoughts clearly
• Challenges learning letter sounds, reading, spelling, or written expression
• Frustration with schoolwork or avoidance of academic tasks

It may be worth discussing these concerns with your GP or paediatrician and considering referrals for assessment.

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It is important to note that with Developmental Coordination Disorder (DCD), children can still meet early motor milestones such as sitting, crawling and walking within typical timeframes and still qualify for a diagnosis. According to diagnostic criteria outlined in the ICD-11 and DSM-5-TR, DCD is not simply about when milestones are reached — it is about the quality and execution of movement.

Children with DCD may:

• Appear awkward or clumsy
• Have difficulty learning new motor tasks
• Struggle to retain motor skills once learned
• Show reduced fluidity, coordination, or efficiency of movement
• Tire more quickly than peers during physical activity
• Struggle to sit upright in a school chair, or have messy handwriting for their age

DCD can be formally diagnosed from 5 years of age, as this is when motor difficulties become more clearly distinguishable from typical developmental variation. The key consideration is whether motor difficulties significantly interfere with daily living skills, academic performance, or participation in play and sport.

Understanding this distinction can be reassuring for parents who may hear, “But he walked on time.” Meeting milestones does not rule out DCD, and early recognition allows for targeted occupational therapy or physiotherapy support to improve skill development and confidence, and increase social participation.

AXYS are here to help and have a number of support options available depending on where a parent is at in their journey, people shouldn’t feel alone, AXYS are here.

Additional Resources