Introduction
There is no standard treatment for Koolen-de Vries syndrome (KdVS). Care focuses on supporting each child’s development and is tailored to their individual needs. This is provided by a multidisciplinary team of healthcare professionals, which may include a paediatrician, physiotherapist, occupational therapist, and speech and language therapist. Depending on the child’s needs, other specialists may also be involved.
Support and care evolve as the child grows and develops. During the early years, the primary focus is on promoting motor, communication, and cognitive development. For young children, therapy may be provided within a specialised early intervention centre or a medical day-care programme. It is also important to explore, at an early stage, which educational setting best meets the child’s needs and abilities, in consultation with parents, the school, and a multidisciplinary team such as KindKans.
As children grow older, the focus gradually shifts towards learning, independence, social skills, and preparing for future living arrangements, employment, or meaningful daytime activities. With appropriate support, both children and adults with KdVS can continue to develop and make the most of their individual strengths and abilities.
Support and Therapy
Children with KdVS are supported by a multidisciplinary team that may include a physiotherapist, occupational therapist, and speech and language therapist. Depending on the child’s individual needs, other healthcare professionals may also be involved. Some children receive therapy through a specialised early intervention centre or a medical day-care programme.
Physiotherapy supports the development of gross motor skills and helps address challenges related to low muscle tone (hypotonia).
Occupational therapy focuses on developing fine motor skills, promoting independence in everyday activities, and, when needed, providing support with eating and drinking.
Speech and language therapy supports the development of communication, oral motor skills, and feeding and swallowing skills. When spoken language is difficult, signs, picture symbols, or other forms of augmentative and alternative communication (AAC) can be introduced to support communication.
Support is tailored to the child’s age, abilities, and individual needs. Parents and caregivers play a vital role in this process and are provided with practical guidance to encourage their child’s development at home and in everyday life.
Speech and Language
Speech and language development is often delayed in children with KdVS. Many children understand much more than they are able to express verbally. In addition to spoken language, they often use signs, facial expressions, or other forms of supported communication to express themselves.
Early intervention by a speech and language therapist is important. Therapy focuses on developing communication, oral motor skills, and feeding and swallowing skills. Many children with KdVS have childhood apraxia of speech (CAS), also known as verbal developmental apraxia, which makes it difficult to plan and coordinate the mouth movements needed for speech. As a result, speech may develop later than expected and may be difficult for others to understand.
Augmentative and Alternative Communication (AAC), such as signs, picture symbols, or speech-generating devices, can help children communicate more effectively. These communication aids support language development and do not interfere with learning to speak.
Key word signs can be a valuable way to support communication and reduce frustration. By combining simple signs with spoken words, children often find it easier to express themselves and understand others. Key word signs can be introduced from an early age and are used alongside spoken language rather than as a replacement for it. They encourage language development and do not hinder the development of speech.
Speech and language therapy remains important throughout the school years. Support may focus on speech production, speech intelligibility and fluency, social communication, and, where needed, literacy skills such as reading and writing. Speech and language therapists work closely with parents, schools, and other healthcare professionals to ensure that support is consistent across all environments.
Parents and caregivers can encourage communication by talking frequently with their child, using clear and simple language, and responding positively to every attempt to communicate. With appropriate support, many children continue to make steady progress and develop increasingly effective ways of communicating with the people around them.
Below are some useful websites offering information, resources, and inspiration on the use of key word signs and other forms of sign-supported communication:
KinderGebaren: Gebaren app – Apps op Google Play
De KinderGebaren-app – NSDSK – Specialist voor taal en gehoor
Gebaren leren – Gebarenles met Lotte & Max
Music and Learning
Many children with Koolen-de Vries syndrome (KdVS) have a strong affinity for music. They often enjoy singing, rhythm, and melodies, and respond to music with great enthusiasm. As a result, music can be a valuable tool for supporting learning and development.
Songs and music can help children learn new words, remember daily routines, and practise social and communication skills. Music may also support concentration, relaxation, and emotional expression.
Every child is unique, but incorporating music into everyday activities in a playful and engaging way can motivate many children to practise and develop new skills.
Below are some useful resources offering information, materials, and inspiration on the use of music and Augmentative and Alternative Communication (AAC):
Totaalmuziek | Home | Totaalmuziek
Education
Children with KdVS develop at their own individual pace. Although most children are able to learn and continue to make progress, they often require additional support at school. Close collaboration between parents, educators, and therapists is essential. By identifying each child’s strengths, abilities, and support needs at an early stage, the most appropriate educational setting can be chosen.
During the preschool years, it is important to explore which type of education best meets the child’s individual needs. This can be done in consultation with parents, the school, and a multidisciplinary team, for example through KindKans. Some children thrive in mainstream education with additional support, while others benefit more from attending a special education programme.
Throughout the school years, education should continue to be tailored to the child’s development and learning needs. Many children benefit from accommodations such as additional time, visual supports, a predictable daily routine, an adapted curriculum, and support with communication, motor skills, and social development. Where appropriate, speech and language therapy, physiotherapy, and occupational therapy remain an important part of their ongoing support.
As children grow older, the focus increasingly shifts towards developing independence, strengthening social skills, and preparing for further education, employment, or meaningful daytime activities. Educational planning should continue to reflect each child’s individual strengths, interests, and abilities, helping them achieve the greatest possible level of independence.
Regular communication between parents, educators, and healthcare professionals is essential to ensure that support evolves alongside the child’s changing needs. By building on each child’s strengths and celebrating every achievement—large and small—they are given the best opportunity to reach their full potential.
Medical Care
Because Koolen-de Vries syndrome (KdVS) can affect multiple organs and body systems, regular medical follow-up is important. Care is usually coordinated by a paediatrician or clinical geneticist, who can refer the child to other specialists when needed. Following the diagnosis, a number of baseline assessments are often recommended, including a cardiac ultrasound (echocardiogram), a renal ultrasound, a hearing assessment, and an ophthalmological examination to identify any associated medical conditions at an early stage.
Depending on the child’s individual needs and symptoms, a range of medical specialists may be involved in their care. These may include a neurologist (for epilepsy and neurological development), cardiologist (heart conditions), urologist or nephrologist (kidney and urinary tract conditions), ear, nose and throat (ENT) specialist and audiologist (hearing), ophthalmologist (vision), orthopaedic surgeon (musculoskeletal and skeletal concerns), and, where appropriate, an endocrinologist, pulmonologist, gastroenterologist, psychologist, or psychiatrist.
Regular follow-up appointments help monitor growth, development, and overall health, while enabling new concerns to be identified and managed at an early stage. Parents and caregivers are encouraged to discuss any questions or concerns with their healthcare team. By working together, care can be adapted over time to meet the child’s changing needs and support their ongoing development.
Transition to Adulthood
The transition to adulthood requires careful planning and preparation. From the teenage years onwards, it is important for young people, their families, healthcare professionals, and educators to begin planning for the future. This includes considering further education, employment or meaningful daytime activities, future living arrangements, and the transition from paediatric to adult healthcare services.
The level of independence achieved varies from person to person. Some adults with KdVS are able to live independently with appropriate support, while others continue living with their families or choose a supported living arrangement. Where appropriate, it is also advisable to discuss practical and legal matters, such as decision-making support, legal representation, or guardianship, before the age of 18.
With the right support, many adults with KdVS can lead fulfilling and meaningful lives. Careful planning and close collaboration between families, healthcare professionals, educators, and other support providers lay the foundation for a successful transition into adulthood and the best possible quality of life.
Conclusion
Supporting a child with Koolen-de Vries syndrome (KdVS) can bring challenges, but it also brings many rewarding moments. With the right medical care, a strong support network, and appropriate interventions, children and adults with KdVS can continue to develop and make the most of their individual strengths and abilities.
Every child is unique. By working closely with healthcare professionals, educators, and other members of the support team, care and support can be adapted to meet the child’s changing needs over time. Never hesitate to ask questions or seek guidance from healthcare professionals, support organisations, or other families with shared experiences.
Every achievement, no matter how big or small, is worth celebrating. Together with a dedicated healthcare team and the people around you, you can build a strong foundation for a life that is as healthy, independent, and fulfilling as possible.
Sources and References
This guide draws on peer-reviewed research and trusted clinical resources. The key sources are listed below.
- GeneReviews: Koolen-de Vries Syndrome – Niendorf et al., 2022. Comprehensive clinical overview from NCBI.
- Cleveland Clinic: Koolen-de Vries Syndrome – Health Library guide on symptoms and treatment.
- Unique: Koolen-de Vries Syndrome Guide – Rare Chromosome Disorder Support Group, 2020.
- KdVS Foundation Resources – Practical resources and family support materials.
- Child Neurology Foundation: KdVS – Overview from the NORD Rare Disease Database (B. de Vries, 2022).
- KdVS Foundation: Speech & Language Fact Sheet – Guidance on communication challenges.
Additional clinical research findings and caregiver reports have been summarized throughout the text.