Introduction

Cardiofaciocutaneous (CFC) syndrome embodies a multitude of abnormal features within multiple organ systems, such as the heart, skin, brain, and craniofacial structures. CFC syndrome is a rare condition that is genetic in nature.

If a child presents with CFC syndrome-like symptoms and is ultimately diagnosed with CFC syndrome, then it is likely that they will have mental disabilities, such as developmental delays and intellectual disabilities, as well as the medical complications that can arise due to the multitude of abnormal physical features mentioned earlier. As it is expected that children diagnosed with CFC syndrome will have these mental challenges, early personalised interventions involving the correct support and adaptations for each individual child are crucial to enable children with CFC syndrome to have the best possible positive outcomes, and to help many children with CFC syndrome to thrive in a variety of educational settings. This article will address the more physical and external presenting symptoms and challenges for a child with CFC syndrome within an educational setting, but will not address the emotional and behavioural challenges that can occur. It is important to note that these are, however, of equal importance to consider and tackle.

Understanding CFC Syndrome in the Educational Context

The origins of CFC syndrome stem from mutations within the genes that are involved in the RAS/MAPK pathway (Ras/mitogen-activated protein kinase pathway) — a pathway that plays a very important role in the development and growth of cells within the body.¹ Due to these mutations within the genes, CFC syndrome has some common characteristics² including:

• Learning difficulties
• Challenges with attention span
• Challenges and delays with speech and language
• Hypotonia (low muscle tone)

Children who are diagnosed with CFC may also have additional medical challenges² which may include, but are not limited to:

• Congenital heart defects
• Seizures
• Challenges regarding feeding

Within both the medical challenges and common characteristics involved with CFC syndrome are elements that can affect the child’s life within a school environment, like their ability to concentrate, their accuracy and ability to feed themselves, their general independence, and overall school attendance. In order to enable each child to fulfill their full potential and to ensure that they have a positive quality of life within the school environment, personalised support plans are crucial. Each child with CFC syndrome will have individual abilities, needs, and goals. To ensure that these are reflected within the support that they receive throughout their educational career, their support plans should be tailored and continually adjusted to best represent the needs of the child at the specific stage of their academic journey, as well as their needs concerning CFC syndrome. These support plans should incorporate suggestions from people involved in all aspects of the child’s life, including parents, teachers, and healthcare professionals. This approach will provide a more holistic view of the child and will ultimately enable more effective support, improving the positive outcomes for all involved.

Creating an Inclusive School Environment

To ensure that any child with CFC syndrome is within an inclusive environment, the teachers and staff working with and around the child need to be informed about the child’s diagnosis and what this means for the child. It is also important to keep them up to date regarding the child’s challenges and strengths, as these will change over time as the child develops. These open channels of communication between education professionals, healthcare professionals, and the child’s family will allow for a flexible, patient, and overall positive approach. This is essential to building an effective support plan, which aids in the child’s motivation and confidence.

Educational Support Strategies

Educational support strategies will vary between local, national, and international environments as they are heavily dependent on the resources available. However, they will all share the same overall objectives in mind: to outline the goals and resources required to enable a child with CFC syndrome to achieve their highest potential within education.

In the United Kingdom, the support plan used is called an Education, Health and Care Plan (otherwise known as an EHCP). This contains a set of advisories that are made after consultations with numerous people within the child’s life (like healthcare professionals, educational professionals, families, and guardians, to name a few), and observations within a variety of settings that together enable a detailed overall picture to be formed about the child. Some advisories may include:³

• Allowing the child to have regular breaks to help manage any attention difficulties or early fatigue
• Providing movement opportunities for the child to help with attention and fatigue difficulties
• Tailoring instructions for tasks to suit the learning style and cognitive level of the child
• Using resources such as visual aids and multi-sensory learning activities to improve the child’s understanding
• Repeating instructions when necessary to reinforce learning
• Assessment adjustments and offering alternative methods in which learning can be demonstrated, rather than relying solely on traditional testing methods

Speech, Language, and Communication Support

Speech and language therapy is often recommended for children with CFC syndrome, as they may be non-verbal children or have delayed speech.⁴ Speech and language therapy can help the child with CFC syndrome with both their expressive and receptive language skills, allowing them to communicate in their own ways.. In some cases, the use of Augmentative and Alternative Communication (AAC) devices is beneficial to the child as its personalised to their daily life.

Regardless of the method of communication, having supportive peer interactions can play a significant role in developing both social and communication skills for children with CFC syndrome.

Physical and Occupational Needs in School

Due to the nature of CFC syndrome, physiotherapy and occupational therapy will likely be important to help a child with CFC syndrome. Within the classroom, this may manifest itself as adaptive seating options,  the use of mobility aids, or classroom modifications such as alternative layouts. It could even include close monitoring by adults for fatigue and discomfort throughout the school day.

Physiotherapy sessions typically focus on improving mobility and participation in physical activities, while occupational therapy addresses fine motor skills such as handwriting, dressing, and self-feeding. As suspected, it is a multidisciplinary approach that can provide the most benefit for children with CFC syndrome.

Summary

Children with cardiofaciocutaneous (CFC) syndrome will require varying levels of support throughout their lives, including in the school environment. Within a school environment, children with CFC syndrome will encounter unique obstacles and challenges, but they can succeed with consistent personalised support.

In order to improve the chances of a positive education outcome for a child with CFC syndrome, the approach required for their educational needs, physical needs, and emotional needs, requires an inclusive, personalised and collaborative approach. Although not all of these therapeutic strategies have been discussed within this article, each is of equal importance for a child with CFC syndrome.

Alongside this inclusive, personalised, and collaborative approach, communication between families, educational professionals, and healthcare professionals is key. Ensuring that this communication is consistent and that there is flexibility and empathy for all professionals involved will make a substantial positive impact on the child’s development, helping them achieve their full potential within an educational environment.