Introduction

CHARGE syndrome is a rare and complex genetic disorder that involves multiple organ systems and can have important effects on both development and learning.¹ The condition was first described in the late 1970s. Most cases are linked to mutations in the CHD7 gene, with an estimated prevalence of about 1 in 10,000 live births.²

The term CHARGE is derived from the main clinical characteristics: eye coloboma, heart malformations, blockage of the nasal passages, impaired growth and development, genital defects, and abnormalities of the ear. While these medical problems are well recognised, more recent attention has turned toward the developmental and educational outcomes of individuals with CHARGE syndrome.³

Cognitive abilities in this population are highly variable. Children with this condition may range from typical intellectual functioning to mild or moderate learning difficulties.⁴ Since both visual and auditory functions may be impaired, children with CHARGE syndrome often face greater challenges in communication and learning, making specialised educational support essential. The wide variation in this condition means that uniform teaching strategies are generally inadequate. Instead, individualised educational plans are most effective, as they build upon each child’s strengths while addressing specific areas of difficulty.⁵

Clinical overview of CHARGE syndrome

As mentioned earlier, CHARGE syndrome represents a rare developmental disorder that involves multiple organ systems and presents with diverse clinical signs.⁶ The acronym CHARGE denotes its primary characteristics: ocular coloboma, which can significantly reduce vision; congenital heart anomalies of varying severity; choanal atresia leading to respiratory complications; restricted growth and developmental delay; genital differences such as hypogonadism; and ear malformations, which are frequently linked to conductive or sensorineural hearing loss.⁷

In addition to the primary manifestations, numerous children encounter further complications, and feeding or swallowing difficulties are frequently reported in the first months of life. Some children require early intervention, and in severe cases, gastrostomy feeding may be necessary.⁸ 

Vestibular dysfunction due to inner ear malformations often contributes to delayed motor milestones and persistent balance problems. Recurrent respiratory infections, sleep disturbances, and chronic fatigue are also common, and many children undergo repeated hospitalisations and surgical procedures throughout childhood.⁹ These health issues affect not only physical well-being but also a child’s ability to participate consistently in daily activities and school life.

The presentation of CHARGE syndrome is highly variable. Some individuals live with multiple severe malformations and complex medical needs, while others display milder symptoms and achieve near-typical development.¹ This variety makes both clinical care and developmental planning challenging. Educators and clinicians must account for this variability, as it has a direct impact on cognitive development, communication capacity, and the kind of educational assistance appropriate for each child.

The coexistence of hearing loss and visual impairment can greatly delay the development of language, social interaction skills, and the acquisition of academic knowledge.

Cognitive development in CHARGE syndrome 

Cognitive development in CHARGE syndrome is highly variable, shaped by the combined effects of genetic, medical, and sensory factors. Some children demonstrate typical intellectual functioning, while many fall within the range of mild to moderate intellectual disability.¹⁰ Developmental delays are especially common in early childhood and are often compounded by frequent medical interventions, prolonged hospital stays, and reduced opportunities for early learning or social interaction.³

One of the most distinctive influences on cognitive development in CHARGE is dual sensory impairment. When hearing and vision are both impaired, children often face major barriers in developing language, social abilities, and academic learning. In many cases, speech and communication are affected not because of intrinsic cognitive limitations but because access to sensory input is restricted. This makes accurate assessment of cognitive ability challenging, since standard tests may underestimate the child’s potential when sensory deficits are not taken into account in standard cognitive ability tests.¹⁰

In addition to sensory barriers, certain neurodevelopmental patterns are frequently reported. These include difficulties with attention, executive functioning, and problem-solving.¹¹ Social cognition may also be affected; children can struggle with interpreting facial expressions and engaging with peers, often as a secondary consequence of communication barriers. Despite these challenges, many individuals with CHARGE show areas of strength, such as memory for familiar routines, visual–spatial learning when vision is preserved, and a strong capacity to adapt when placed in supportive environments.¹²

Recognising this wide range of outcomes is essential. Cognitive development in CHARGE cannot be defined by a single pathway; instead, each child presents a unique profile influenced by their medical history, sensory status, and environment. Accordingly, tailored assessments are essential to direct planning for both education and therapy.¹⁰

Educational challenges in CHARGE syndrome

Children with CHARGE syndrome encounter a range of educational challenges, many of which result from the combined effects of medical complications, sensory impairments, and developmental delays.⁶ One of the most significant barriers is communication. When severe hearing loss occurs alongside vision impairment, children may struggle to access spoken language, sign language, and visual cues. 

Although hearing aids and cochlear implants can provide support, the irregular quality of sound input often disrupts the development of speech and comprehension.¹³ For some children, augmentative and alternative communication (AAC) systems become essential for classroom participation.⁶

Social and emotional development is another area of concern. Limited communication skills and difficulty interpreting social cues may lead to frustration, reduced peer interaction, or social withdrawal. These problems are compounded by repeated medical appointments, health-related tiredness, and irregular school attendance, which together diminish opportunities for stable engagement in the classroom and with peers.¹⁴

Physical and motor difficulties add further barriers. Problems with balance and delayed motor milestones may limit participation in sports, play, and hands-on classroom activities. In addition, recurrent respiratory infections, feeding challenges, and sleep disturbances frequently contribute to daytime fatigue, which negatively affects concentration and learning.¹⁴

Traditional classroom environments often pose additional obstacles. Background noise, inadequate lighting, or rigid instructional styles can limit access to information.¹⁰ Teachers who are unfamiliar with CHARGE syndrome may find it difficult to adjust lessons effectively, leading to gaps in learning. These challenges highlight the need for proactive planning and individualised educational strategies, ensuring that children with CHARGE have equitable opportunities to succeed academically and socially.

Individualised educational approaches

Because CHARGE syndrome involves diverse challenges, no single educational method is sufficient. Personalised strategies that reflect each child’s abilities and needs are essential. Creating such plans usually involves collaboration between teachers, families, and specialists such as speech and language therapists, occupational therapists, audiologists, and psychologists.¹⁴

A central focus of intervention is communication support. Individuals with vision and hearing problems usually need more than one way to express themselves. Examples include tactile signing, AAC tools like picture symbols or electronic devices, and speech therapy designed to utilise any residual senses.¹⁰ Using consistent approaches at home and school strengthens progress and helps prevent frustration.

Another key area is sensory accommodation. To enhance participation in classroom activities, children with hearing loss may benefit from assistive listening devices, including FM systems. Children with visual impairment may require large-print texts, tactile resources, or other visual supports.⁹ When both senses are affected, teachers often adopt multisensory strategies, combining touch, movement, and routine to help reinforce new concepts.

Instructional strategies work best when they are structured and predictable. Visual schedules, step-by-step guidance, and regular reinforcement give children a sense of security and help them focus [citation]. At the same time, lessons need to be flexible, since energy levels and attention may vary across the school day.¹⁵

Providing social and emotional support is just as important. Carefully planned group activities, peer mentoring, and structured play can encourage social interaction and reduce isolation. For older children, interventions such as counselling or structured social skills training can provide valuable support as they navigate increasingly complex social and educational environments.¹⁰

mall environmental adaptations often make a big difference. Preferential seating near the teacher, reducing background noise, or adjusting lighting can improve access to lessons.¹⁴ Because many children miss school for medical reasons, flexible learning plans and catch-up support are also essential.

Ultimately, the success of individualised education in CHARGE syndrome depends on flexibility and collaboration. When educators, clinicians, and families work together and adapt strategies as the child grows, they are more likely to achieve both academic and social potential.⁹

Future perspectives

Although medical care and early intervention have improved outcomes for children with CHARGE syndrome, important gaps remain in our understanding of their cognitive and educational development [citation]. Research on cognitive and educational development remains limited. Most studies focus on medical aspects, with fewer exploring long-term learning or effective teaching methods.¹⁰ Future studies should explore how sensory impairments, cognitive abilities, and educational needs affect each other over time.

New technologies also offer opportunities to support learning. Educational access can be improved through the use of adaptive communication devices and digital platforms specifically designed to deliver multisensory learning experiences.¹⁵ There is also a need to train teachers and clinicians to better understand the different needs of these children and use more personalised, flexible methods.

Conclusion

CHARGE syndrome is a rare and complex condition that influences many aspects of a child’s development, including cognition, communication, and education. Some children are able to achieve near-typical development, while others face significant challenges due to the combined effects of medical complications, sensory impairments, and developmental delays.

Because of this wide variability, a single educational approach is rarely effective. Rather than a uniform approach, effective progress relies on personalised strategies that build upon each child’s strengths, target specific challenges, and evolve in response to changing needs. Collaboration between families, educators, and healthcare professionals is central to this process, ensuring that children receive consistent and appropriate support.

When tailored interventions are put in place, children with CHARGE syndrome are better able to access meaningful learning opportunities, participate more fully in school life, and improve their long-term quality of life.