XXYY syndrome is a rare chromosomal variation and is estimated to affect 1:18 000 males.
For parents receiving an XXYY syndrome diagnoses for their child it can be an extremely challenging time and the start of a difficult time which can evoke a range of emotions. Due to the rarity of the X & Y chromosome variation accurate information is very hard to find. For some parents they may feel a sense of relief that they finally have a diagnosis and finally have answers for challenges that are evident with their child. 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 diagnosis, 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 XXYY is 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.
Signs and symptoms of a boy with XXYY
It is important to note that not all boys with XXYY experience all these signs and symptoms, but they may include:
- Developmental delays
- Speech impairment or delay
- Tall, considering family history
- Behaviour outbursts & mood swings
- Learning disabilities
- Hypogonadism (low levels of testosterone)
- Intellectual impairment
- ADD or ADHD
- Autism
- Scoliosis
- Tremor
- Clinodactyly (Curved-in pinky fingers)
- Low muscle tone
- Flat feet/club feet
- Undescended testes
- Dental problems
How do the unique characteristics of boys with XXYY Syndrome impact their daily lives?
Boys with XXYY Syndrome frequently have difficulty in school with learning, complying, attention span, social skills and some physical activities. Their behaviours are often misunderstood by teachers and others working with them. They may seem to be intentionally non-compliant and sometimes have difficulty with making eye contact. They can have frustration-based outburst that are disruptive and taxing in a classroom or group. Many boys also have chewing issues that cause problems such as biting nails, pens and pencils and virtually any object. Some boys have serious digestive problems, causing them to spend long periods of time needing the toilet. Some boys abscond often and are a high flight and safety risk.
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 and 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.
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 extra X and Y chromosome, nor will your child stop growing it is certainly very challenging and unexpected when your child had been diagnosed with XXYY. Life will be different, life will be more challenging and filled with more worries but not without many of the same joys that all parents feel in their children’s lives.
Receiving a diagnosis as a parent 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 as it helps ensure they reach their full potential.
Who should be involved in the care of a child with XXYY?
Most children with XXYY have some developmental delays and learning disabilities. Therefore, these aspects should be checked and monitored: psychology (cognitive and social–emotional development), speech/language therapy, occupational therapy, and physical therapy. Consultation with a developmental paediatrician, psychiatrist, or neurologist to develop a treatment plan including therapies, behavioural interventions, educational supports, and psychotropic medications for behavioural and psychiatric symptoms should be arranged (if assessed as necessary). Common diagnoses such as learning disability/ID, ADHD, autism spectrum disorders, mood disorders, tic disorders, and other mental health problems should be considered, screened for, and treated. Good responses to standard medication treatments for inattention, impulsivity, anxiety, and mood instability are seen in children with XXYY, and such treatment can positively impact academic progress, emotional wellbeing, and long-term outcome. Poor fine-motor coordination and the development of intention tremor can make handwriting slow and laborious, and occupational therapy and keyboarding should be introduced at an early age to facilitate schoolwork and self-help skills. Educational difficulties should be evaluated with a full psychological evaluation to identify discrepancies between verbal and performance skills and to identify individual academic needs. Expressive language skills are often affected throughout life, and speech therapy interventions targeting expressive language skills, dyspraxia, and language pragmatics may be needed into adulthood. Adaptive skills (life skills) are a significant area of weakness, necessitating community-based supports for almost all individuals in adulthood. Additional treatment recommendations based on the individual strengths and weaknesses in XXYY syndrome may be required.
The most important differences result from the effects of the extra X and Y chromosome on neurodevelopment, leading to higher rates of developmental delays in early childhood, learning disability or intellectual disability, adaptive functioning (life skills) difficulties, neurodevelopmental disorders such as ADHD or autism spectrum disorders, and psychological/behavioural problems including anxiety, depression, and mood dysregulation.
Children generally need to be followed by an endocrinologist. If hypogonadism is present, testosterone treatment should be considered in all individuals regardless of cognitive abilities due to positive effects on bone health, muscle strength, fatigue, and endurance, with possible mental health/behavioural benefits, as well.
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?
AXYS are here to help and have a number of support mechanisms available depending on where a parent is at in their journey, people shouldn’t feel alone, AXYS are here.
