A 2022 Speech and Language UK report indicated that 1.7 million children in the UK experience speech and language delays.¹ The cause of which can vary significantly between children. However, in some cases, there is no evidence of a deeper issue and it can often resolve itself. In children with Floating Harbour Syndrome (FHS), these delays are considerably more pronounced and persistent, coupled with other identifying characteristics, detailed in this article. As a parent, being able to identify these delays and their effect on your child’s development will be imperative in diagnosis and treatment.

FHS is a rare genetic condition that affects various aspects of a child’s growth and development. The characteristic short stature, prominent facial features and delays in speech and language development can be attributed to a mutation in the SRCAP gene.² Imagine the body’s development as a complicated Lego structure and an important piece is misshaped so it doesn’t work like other Lego pieces. The end product can result in visible changes, like a child’s shorter stature but also developmental changes such as their ability to communicate.

This article aims to use the expertise of healthcare professionals to better understand and manage speech and language delays in individuals with FHS, addressing the challenges faced by both patients and their parents. 

What is Floating Harbour Syndrome (FHS)?

Floating-harbor syndrome is a rare genetic disorder caused by mutations in the SRCAP gene,³ which is important for development, causing distinctive physical features such as a triangular face, deep-set eyes, and short stature. The effects are not just physical characteristics, FHS can also impact cognitive and developmental abilities, including speech and language skills, which is the focus of this article.

Understanding speech and language development

In children with typical development, speech and language skills progress gradually from babbling to simple words and eventually to sentence formation, following expected age milestones. However, children with FHS often experience delays compared to typical language development. According to the American Speech-Language-Hearing association,⁴ speech and language development can be categorised into three key components: 

1. Receptive Language: understanding language that is spoken
2. Expressive Language: speech that accurately demonstrates the child’s thoughts
3. Pragmatic Language: the use of language and gestures in a social context

Identifying speech and language delays in FHS

The manifestation of speech and language delays can vary from child to child but in the case of the FHS patients, it is within the first 3 years of life. It is common to observe delays in primary communication such as babbling and first words. There may also be difficulty pronouncing sounds for basic speech tasks, along with noticeable challenges in understanding simple instructions. Parents may also note a difficulty in children accurately expressing their emotions. 

Recognition of the early signs of speech and language delays could be the difference between intervention being successful or not, it is therefore imperative that parents are mindful of what to look out for. This means if your child is talking at a slower rate to his/her peers, cannot form clear sentences and follows instructions with great difficulty. It is important to contact healthcare professionals with any queries.

After contacting a healthcare professional, the next step would be undergoing diagnostic testing. These tests, Including developmental screenings, are assessed by speech-language pathologists to identify potential issues. They are crucial in determining the extent of the delay and guiding personalised intervention plans. Strategies may include speech exercises, vocabulary expansion and language development to help children express their needs. Additional therapies, such as oral motor strengthening or sign language may also be explored to enhance communication. 

Potential causes of speech and language delays in FHS

The speech and language delays in FHS stem primarily from genetic factors. Mutations in the SRCAP gene result in normal development processes being altered, and as a result, the part of the brain involved in language processing has changed. As mentioned earlier imagine a large Lego set where each piece plays a crucial role. SRCAP is one of these key pieces, but in children with FHS, it is misshaped preventing it from fitting correctly. This disruption affects how the entire structure functions leading to both physical and internal changes. The severity of delays can be influenced by socioeconomic factors such as access to intervention and family support.

Managing speech and language delays

Effectively managing speech and language delays in FHS requires a multidisciplinary approach, starting with early intervention programs. Speech-language pathologists provide personalised support, targeting issues like articulation and social communication through structured sessions and workshops. In academic settings, Individualized Educational Plans (IEPs) accommodate additional needs, including alternative communication methods like sign language for severe cases. Audiologists may also play a role in supporting development. Beyond clinical and educational settings, creating a nurturing home environment with family support is essential. Complementary therapies, such as occupational therapy, can enhance fine motor skills and sensory integration, indirectly aiding language development. A case study reported significant improvement in a boy with FHS after four years of speech-language rehabilitation.⁵ 

FAQ’s

What are the early signs of speech and language delays in a child with Floating-Harbour Syndrome?

Parents may observe the below delays, notably within the first 3 years of life: 

• Delayed babbling or first words
• Difficulty producing speech sounds
• Difficulty understanding simple instructions
• Limited vocabulary for their age
• Struggles to express their needs

How can speech and language delays in Floating-Harbour Syndrome be managed or treated?

• Early and consistent speech therapy
• Speech-language pathologist will work along with your child’s personalised development plan 
• Therapy may include exercises to strengthen oral-motor skills 
• An alternative communication method could be sign language

Will my child eventually catch up with their peers in speech and language development?

Early intervention and consistent support can lead to significant progress in a child’s speech and language development. Compliance with therapies/ workshops and the degree of speech and language delay are the two main factors that can influence a child’s progress. Ultimately, continuous therapy and a supportive home environment are imperative to help your child reach their own communication potential. 

Summary

FHS is a result of a mutated gene, SRCAP, and is a rare genetic disorder. Clinical manifestations include short stature, ‘triangular’ face and ‘deep set’ eyes; however, speech and language delays can also occur. Expressive language delays are common in children with FHS, struggling to produce speech that can accurately express their emotions, creating a huge learning gap for these children. Receptive language delays are also observed in these children, affecting their language comprehension. It is generally understood that these delays can be associated with the genetic mutation of SRCAP, which studies have shown to affect neurological development. However, there are also socioeconomic factors to be taken into consideration. The best way we can help these children is by diagnosis which includes assessments by health care professionals called speech-language pathologists that can perform and evaluate test results and thereby devise a suitable plan for your child. With the correct intervention, children with FHS see significant improvement in their speech and language development.