Malan Syndrome Awareness Day

If you're unfamiliar with Malan syndrome, you're not alone. As of 2021, there have been around 200 documented cases of this hyper-rare genetic disorder worldwide. In September 2023, we at Seen & Heard were contacted by a parent whose 3 year old daughter had been diagnosed with Malan syndrome and needed support with her speech and language development. After delving into the condition, we were eager to provide our support. Now, we're committed to playing our small part in raising awareness about Malan syndrome.

What is Malan Syndrome?

Malan syndrome is a rare genetic disorder that is the result of a change in the Nuclear Factor One X (NFIX) gene, characterised by overgrowth, intellectual disability, vision and/or hearing impairment, skeletal anomalies, epilepsy and anxiety (Malan Syndrome Foundation, 2019-2024). The clinical features of each individual varies; our client was referred to us with global developmental delay, low muscle tone, and significant difficulty in motor planning, impacting their speech development.

Our Journey

So how does speech and language therapy fit into this? Malan syndrome currently has no known cure, however with support from a range of different professions, including speech and language therapists, we can help by evaluating and managing symptoms. But what does this look like? With out younger client, we used dynamic and informal assessment styles through play to gather our information about speech, language and communication skills. From there we created an informative therapy plan that was best suited to her. From this, MORE PLAY! This time, for therapeutic purposes. Through therapeutic play, we have focused on building attention and listening skills, play and interaction skills, understanding of language, use of language and speech sounds. Check out our Instagram post to see a short clip of therapy in action.

Since starting our client’s therapy journey in September (consisting of weekly therapy, in combination with support provided at home and in nursery), we have watched her speech and language skills grow and develop. She is now able to use some single words to help express herself, as well as starting to use Makaton to help her communicate. On top of that, she’s developed the ability to produce a whole bunch of different sounds—like f, m, s, t, k, g, p, and b! What an amazing journey it has been so far, we are truly privileged to be a part of her and her family’s journey in navigating life with Malan syndrome. 

Family’s Journey

It’s been such a pleasure working with this little girl’s family, who have been patient with us as we have developed our understanding of this condition. They very kindly wrote down some thoughts for us:

“Our little girl didn't babble in her first year of life, though she was always attentive and enjoying all the books she was being read, songs she was being sung, and music she got to listen to. Developmental concerns were raised for her at 11 months of age, and we began working on her speech and language from that point onwards. She began speech and language therapy sessions from 12 months old, and with the advice of various speech and language practitioners and our own research, we embedded all kinds of good practice into our daily routine, giving her choices, practising turn-taking, and a whole host of other activities to support her speech and language development. She started to babble at 16 months of age, but not in the typical style of 'ba-ba, da-da' - her initial consonants always came out of left-field in terms of typical developmental expectations, and it was a magical jumble of sounds and words! She's been keeping us on our toes ever since.

 At 21 months old, she received a diagnosis of Malan syndrome. We found out that many children with the condition have difficulty with their speech, and that considerable specialist intervention is required to support speech and language development. As with many other children with this condition, at 3 years old she faces significant speech and language delay but has a considerably greater degree of receptive language (comprehension) than expressive language. Through weekly speech and language therapy at nursery with Rebecca and Daisy from Seen & Heard, and daily speech and language good practice at nursery and at home, she now has 20 or so words at hand (with about 5 words being her go-to!) and a bit of Makaton, and you can catch her singing some of her favourite song lyrics in the shower (well, bath)! She is also experimenting with using communication boards, a communication book, and AAC technology (the Ms Rachel button on her 'Want' page is a firm favourite).

We know our little girl is capable of so much - and she will get there in her own unique style. While of course it's been challenging in many ways, we're having wonderful fun being part of her speech and language journey and celebrating all her amazing achievements.”

Further information

We’d highly recommend checking out the Malan Syndrome Foundation’s website (https://www.malansyndrome.org) for further information. If you’d like to reach out to a therapist at Seen & Heard, we’d love to hear from you hello@seenandheard.studio