Traditionally termed allied health, children’s therapy services generally include occupational therapy, speech therapy, physiotherapy, and may also include dieticians, orthotists, podiatrists and others.
It is important to remember that to achieve the best outcomes for a child with a XXXY diagnoses a collaborative approach is vital, this team should consist of a GP, Pediatrician, endocrinologist and potentially a child psychologist and/or psychiatrist if mental health concerns are identified. It is very important that the parents are actively involved in this team and collaborate about decision making and intervention options that are needed. Research shows that a child with XXXY is more sensitive to stress in the family and needed more parental support than average.
XXXY is a spectrum with some children showing less obvious signs and others significant symptoms. It is thought that a large percentage of individuals with XXXY aren’t diagnosed due to their varied and nonspecific symptoms and are therefore often misdiagnoses. The following symptoms may be present in children with the diagnosis.
- Low muscle tone (hypotonia)
- Reduced muscle strength or tone can sometimes lead to other complications such as sleep apnoea or chronic constipation
- Speech delay/expressive language disorder: language difficulties is extremely widespread, most commonly verbal dyspraxia.
- Mild autism
- Developmental delays e.g. Grabbing objects, crawling, walking, talking etc.
- Learning difficulties: In particular reading disorders
- Attention deficits/ADHD
- Depression/anxiety: Very high incidence
- Sensory processing challenges: Are very common and may include aversion to loud noises or over stimuli in busy environments
- Undescended testes
- Poor motor development or coordination (dyspraxia)
- Tiredness and fatigue
- Difficulties processing information – especially verbal
- Shy and timid nature
- Poor communication and social skills
- Display challenging behaviours
- Long, thin arms and legs
- Overall IQ may be below their age-matched typical peers
- Abnormal fusion of certain bones in the forearm (radioulnar synostosis)
- An unusually large range of joint movement (hyperextensibility
- Elbow abnormalities
- Flat feet (pes planus)
- Distinctive facial features (may or may not be evident): including widely spaced eyes (ocular hypertelorism), outside corners of the eyes that point upward (up slanting palpebral fissures), and skin folds covering the inner corner of the eyes (epicanthal folds).
- Motor co-ordination difficulties which may present with late walking or difficulties in playing sport.
- Delayed development of their social, language and learning skills including problems with the spoken language and processing spoken words.
- Learning difficulties in particular with reading and understanding math.
- The average IQ in an individual with XXXY ranges from 70 to 80.
- Difficulties in making friends at school and socializing.
- Mental health challenges: Anxiety, low mood, depression
- Attention deficit hyperactivity disorder (ADHD).
- Sensory processing challenges: Unable to tolerate loud noises and certain textures.
Although there is no cure for XXXY with the right childhood intervention and treatment it can greatly help in managing and decreasing symptoms. Children can go on to live a happy and fulfilling life and be successful in their chosen field if they have the right support mechanisms in place.
What is early childhood intervention?
Early childhood intervention is the process of providing services, education and support to infants and young children who are deemed to have an established condition, like XXXY Syndrome, those who are evaluated and deemed to have a diagnosed physical or mental condition, with a high probability of resulting in a developmental delay, which is often evident in young children with XXXY Syndrome. This can also be a trigger for children who don’t have a diagnosis to seek further testing particularly if hypotonia, language and developmental delays are present.
XXXY is often not well understood or knowledge and awareness is minimal due to it being rare. Early childhood intervention professionals can help bridge the gap of delayed and miss diagnoses. It is important for early childhood intervention professionals to understand the array of signs and symptoms that can be present for an infant and young child with XXXY. If they see these signs and symptoms and suspect a diagnosis, they should be proactive and refer the parent back to a GP or to a pediatrician for further karyotyping blood tests.
The purpose of early childhood intervention is to lessen the effects of the disability or delays. Services are designed to identify and meet a child’s needs in five developmental areas, including:
- Physical development: (reaching, sitting, rolling, crawling, and walking, pencil grip)
- Cognitive development (thinking, learning, solving problems)
- Communication (talking, listening, understanding)
- Social or emotional development (playing, feeling secure and happy, emotion regulation) and
- Adaptive and self-help development (eating, dressing etc.).
Early intervention programs and services may occur in a variety of settings, with a heavy emphasis on natural environments and play based therapy, these may include; the home environment, pre-schools, kindergartens, primary schools and early childhood intervention clinics. These programs and/or services are proven to be most effective when started as soon as the delay or disability is identified.
It is vital that parents don’t take the wait and see approach and that they are proactive in getting their infant or young child assessed and to implement early childhood intervention as soon as any delays or concerns are identified. Delaying early childhood intervention can be detrimental to a child’s potential. Early childhood intervention offers a child the best chance for success in the future.
Services may also be provided to address the needs and priorities of the child’s family. Family-directed services are meant to help family members understand the special needs of their child and how to enhance his or her development.
- Overall IQ may be below their age-matched typical peers
- Abnormal fusion of certain bones in the forearm (radioulnar synostosis)
- An unusually large range of joint movement (hyperextensibility
- Elbow abnormalities
- Flat feet (pes planus)
- Distinctive facial features (may or may not be evident): including widely spaced eyes (ocular hypertelorism), outside corners of the eyes that point upward (up slanting palpebral fissures), and skin folds covering the inner corner of the eyes (epicanthal folds).
- Motor co-ordination difficulties which may present with late walking or difficulties in playing sport.
- Delayed development of their social, language and learning skills including problems with the spoken language and processing spoken words.
- Learning difficulties in particular with reading and understanding math.
- The average IQ in an individual with XXXY ranges from 70 to 80.
- Difficulties in making friends at school and socializing.
- Mental health challenges: Anxiety, low mood, depression
- Attention deficit hyperactivity disorder (ADHD).
- Sensory processing challenges: Unable to tolerate loud noises and certain textures.
Although there is no cure for XXXY with the right childhood intervention and treatment it can greatly help in managing and decreasing symptoms. Children can go on to live a happy and fulfilling life and be successful in their chosen field if they have the right support mechanisms in place.
What is early childhood intervention?
Early childhood intervention is the process of providing services, education and support to infants and young children who are deemed to have an established condition, like XXXY Syndrome, those who are evaluated and deemed to have a diagnosed physical or mental condition, with a high probability of resulting in a developmental delay, which is often evident in young children with XXXY Syndrome. This can also be a trigger for children who don’t have a diagnosis to seek further testing particularly if hypotonia, language and developmental delays are present.
XXXY is often not well understood or knowledge and awareness is minimal due to it being rare. Early childhood intervention professionals can help bridge the gap of delayed and miss diagnoses. It is important for early childhood intervention professionals to understand the array of signs and symptoms that can be present for an infant and young child with XXXY. If they see these signs and symptoms and suspect a diagnosis, they should be proactive and refer the parent back to a GP or to a pediatrician for further karyotyping blood tests.
The purpose of early childhood intervention is to lessen the effects of the disability or delays. Services are designed to identify and meet a child’s needs in five developmental areas, including:
- Physical development: (reaching, sitting, rolling, crawling, and walking, pencil grip);
- Cognitive development (thinking, learning, solving problems);
- Communication (talking, listening, understanding);
- Social or emotional development (playing, feeling secure and happy, emotion regulation); and
- Adaptive and self-help development (eating, dressing etc.).
Early intervention programs and services may occur in a variety of settings, with a heavy emphasis on natural environments and play based therapy, these may include; the home environment, pre-schools, kindergartens, primary schools and early childhood intervention clinics. These programs and/or services are proven to be most effective when started as soon as the delay or disability is identified.
It is vital that parents don’t take the wait and see approach and that they are proactive in getting their infant or young child assessed and to implement early childhood intervention as soon as any delays or concerns are identified. Delaying early childhood intervention can be detrimental to a child’s potential. Early childhood intervention offers a child the best chance for success in the future.
Services may also be provided to address the needs and priorities of the child’s family. Family-directed services are meant to help family members understand the special needs of their child and how to enhance his or her development.
The early childhood intervention team
Speech Pathologists
What do speech pathologists do?
Speech pathologists assess, diagnose and treat communication and swallowing difficulties in children and adults. Communication difficulties refer to challenges with speaking, understanding and/or using language, listening, social skills, stuttering, reading, writing and using voice. Speech pathologists also help people who have difficulties eating and drinking safely.
It is known that young children with XXXY experience language difficulties and delays. The problems usually display themselves with expression of speech and articulation, often receptive language is good. It has been identified that the sooner speech therapy is implemented if delays are identified the quicker a child will catch up to their peers.
Where do speech pathologists work?Speech pathologists can work with families and children in many different settings including; pre-schools, schools, in the home, community health centers and private practice. Speech pathologists often work collaboratively with occupational therapists, physiotherapists, dietitians, audiologists, psychologists, doctors and teachers.
How can a speech pathologist help a child with XXXY?
Research shows that speech therapy can help a significant number of children with XXXY and the earlier it is initiated the better.
Speech pathologists can support people in the following areas:
- Speech delays and disorders – articulation and producing speech sounds.
- Expressive language – using language to share thoughts, feelings and ideas. A study has found that structural aspects of language are more difficult such as expressing themselves and understanding complex sentences in an individual with Trisomy X.
- Receptive language – understanding language, word meanings and instructions.
- Augmentative and alternative communication for people with difficulties speaking and writing e.g. using pictures, communication boards or assistive devices to support understanding and expression of language
- Fluency – supporting people who stutter to speak more fluently and with confidence
- Feeding and swallowing difficulties – supporting infants, children and adults who have difficulties eating, drinking and swallowing safely. Not common but can occur with infants and young children with significant hypotonia
- Pre-literacy and literacy skills – learning to read, write and spell
- Social communication difficulties – communicating for social purposes and following the rules for conversation
- Cognitive-communication disorders – organising thoughts, planning, reasoning, paying attention, remembering and problem solving
Speech Pathology Australia have some great resources and fact sheets.
Occupational Therapist
What do occupational therapists do?
Occupational therapy is a person-centred health professional concerned with promoting health and well-being of children and individuals. The primary goal of occupational therapy is to enable people to participate in the activities of everyday life. Occupational therapists achieve this outcome by working with children and families to enhance their ability to engage in activities of daily living and assesses what they want to do, need to do, or are expected to do, or by modifying the environment to better support their ability to engage and interact.
Your child might see an occupational therapist if he has difficulty doing everyday activities. His difficulties might be the result of physical, psychological or emotional problems, developmental delay or intellectual disability. These delays are often a direct correlation to the signs and symptoms evident with XXXY.
How can an occupational therapist help a child with XXXY?
An occupational therapist work with children who can’t take full part in everyday life for some reason. The occupational therapist’s job is to help your child develop independent living skills and participate to the best of his ability in everyday activities. They can come to the home environment, pre-school, primary school or a child can be seen in their clinical practice rooms.
Occupational therapists consider all areas of your child’s development, including thinking, speech, language, social skills, gross motor skills and fine motor skills. Occupational therapists also look at your child’s environment, including physical, social or legislative barriers that can make life hard for your child, and try to find ways of improving the environment or working around these barriers. They work in collaboration with parents, pre-school educators, health professionals, other early childhood intervention therapists and teachers to ensure the best outcomes for the child.
These are some great activities and things you can do at home.
Physiotherapist
What do physiotherapists do?
Research suggests that hypotonia is an extremely common symptom in children with XXXY syndrome diagnosis. This can affect every aspect of their lives.
It is beneficial for parents of children with XXXY diagnosis to take their children to see a Pediatric physiotherapist, they are physiotherapists who specialise in working with children from birth to late adolescence. They usually have further training and experience such as a graduate diploma in pediatrics or a master’s degree.
Physiotherapists often work with children with developmental or physical challenges like XXXY to help them with physical and motor skills problems. The most common need arising from hypotonia which greatly affects a child’s core muscles.
Pediatric physiotherapists have expert skills in the assessment, identification and diagnosis of, and treatment of child development and movement difficulties. They have highly developed hands on skills, which they use with a big dash of fun, creativity and playfulness, to develop individualised therapy programs for each child.
Research shows that a child with XXXY who perseveres with activities that build up muscle strength can then go onto enjoy other activities such as swimming, bike riding and climbing.
Hypotonia can have a significant impact on a child with XXXY. Generalised hypotonia can increase fatigue, decrease ability to sit and engage in activities and can result in behavioural outbursts to compensate. Hypotonia can affect a child’s gross and fine motor skills.
How can a physio pathologist help a child with XXXY?
A physiotherapist can help your child with:
- Hypotonia – Low muscle tone
- Problems with balance, posture, coordination and general motor skills
- Joint, muscle or nerve problems that are causing weakness or pain
- To improve strength, movement, function and independence.
Physiotherapists who work with children will want parents to be involved in their child’s sessions and in planning for their child’s treatment. Good communication with families is very important to pediatric physiotherapists.
The types of movement disorders or movement difficulties pediatric physiotherapists can help with vary greatly, but can include:
- Babies and children who are slower to achieve their motor milestones, e.g.: babies who are late to learn to sit, crawl or walk
- Babies and children who are using unusual patterns to move e.g.: w-sitting or bottom shuffling or toe walking
- Children who are having difficulty with motor skills, such as jumping/hopping or ball skills
- Toddlers and babies who are clumsy or uncoordinated
- Children with hypotonia and diastasis recti
They collaborate with the child, the child’s family, other health professionals and teachers or educators. Treatment and therapy programs aim to optimise the health, well-being, and abilities of each child to enable them to move and participate in everyday activities, like playing, learning, going to school, and being part of a family and community.
The more active families are in implementing suggested early intervention techniques, regimes and tools the more positive outcomes for a child with XXXY.
