Smith-Magenis Syndrome (SMS) and it's relevance to the NDIS

Published on 4th March 2024

Written by, Samantha Badrock

Reviewed by Australian Medical Practitioner and a preventative health expert Dr. McGowan

Autism, a spectrum of signs and symptoms, continues to unveil its intricacies as science strives to comprehend the full spectrum of this neurodiversity.

 In my journey of tailoring Supported Art Classes to the unique needs of my clients, one remarkable discovery emerged when a client underwent genetic testing. The revelation: Smith-Magenis Syndrome (SMS).Smith-Magenis Syndrome was first described in 1982 by   MD. Dr Ann Smith and Ruth Ellen Magenis, a genetic counselor and chromosome analyst, respectively. An article in Am J Med Genet C Semin Med Genet detailed that individuals with SMS have a full or partial deletion of chromosome 17p11.2, including the RAI1 gene.But what does this genetic variation mean for those who have it?

The person with SMS may:- Exhibit signs of autism as early as 18 months or earlier, as it can now be detected much younger than 12 months.- Experience sleep disturbances, cognitive delays, and maladaptive behaviours such as hyperactivity, impulsivity, and self-injurious behaviour.- Encounter speech and language delays.- Demonstrate strong visual reasoning (beneficial for creative activities) but potentially struggle with sequential learning (math, science).- Display self-hugging behavior.- Present stereotypies, sensory integration difficulties, and limited social awareness, align with features of autism. The study suggests a genetic inclination for individuals with SMS to fit within the autism spectrum. In terms of the NDIS, this diagnosis may attract substantial funding due to its nature as an unchanging genetic variation not a condition subject to cure through medical or behavioural intervention. However, a concerning aspect emerged in my research. An article by Yousif Nijim, MD, and Amin Adawi highlighted that people with SMS are often misdiagnosed as solely having autism, ADHD, obsessive-compulsive tendencies, or oppositional defiant tendencies. 

This raises a critical question: Why does accurate diagnosis matter when the symptoms are seemingly similar, especially if all are NDIS funded? To delve deeper into this, I sought insights from an Australian Medical Practitioner and a preventative health expert.   Dr. McGowan has had personal experience in caring for a family member with SMS. "What's your understanding of SMS, and what would you like people working in disabilities to know?" 

"SMS is a rare chromosomal variant that can impact a child in many ways, such as with their behaviour, sleep, physical and intellectual development.  

SMS can now be diagnosed with a test called a Chromosome microarray (CMA).  This testing is a detailed genetic test that can look for extra or missing pieces of genetic material or DNA for well over 400 different conditions

that can be done via a bulk billed blood test organised with a paediatrician or at a public hospital in the Genetics Department (children and adults)

   I would like those working in the disability space to know that CMA should be offered when evaluating individuals diagnosed with otherwise unexplained developmental delay, intellectual disability,

autism, or congenital anomalies.  Autism is not just the one condition, there may be other reasons why a person presents with autism. 

I found this to be a great website which I share around for family, friends and professionals who may want to know more about SMS.  https://smsaustralia.org/"

"Why does accurate diagnosis matter when the symptoms are seemingly similar, especially if all are NDIS funded? and how does SMS different from an "Autism" diagnosis?

"NDIS appropriately relies on a diagnosis to provide funding.  The funding for a NDIS plan is often recurrently assessed with the participant and their family needing to continually “prove” why the person is disabled enough to receive the amount of money allocated.  It is a deficit-based model.   This constant reassessment can be quite onerous and stressful for the participant and their carers. 

With a genetic diagnosis, the actual clinical condition is considered biological, ie it won’t change. Think Trisomy 21/Down’s Syndrome.  This means the participant is not constantly having to “prove” themselves worthy of the funding as they are born with the condition. 

Accurate diagnosis is more feasible now a days, with the increasing use of CMA.  There is the saying, “If you have met one person with autism, you have met one person with autism”, ie every person with autism is unique with the way their neurodiversity will present.  NDIS assessments and funding may group all those with Autism into the same category or use unhelpful terms such as “high or low functioning”.   

CMA enables those with other genetic reasons for their Autism to gain a better understanding of any other associated conditions that may go along with being Autistic.  This can help them and their family/carers/support workers to be better informed regarding co existing medical issues."

How do you think SMS could impact a participant's NDIS funding?

It may mean that the need to constantly “prove” a deficit-based model for Autism is less. SMS means that a persons neurodiversity is genetic, so is unlikely to change with time.

It will hopefully help the person with SMS gain access to additional support such as a companion card, disability parking and greater funding for support in the community.

The study suggests that individuals with SMS may possess more visual reasoning than sequential learning. Considering this, how might art classes benefit someone with SMS?

Art Classes have potential to be a great benefit for people with SMS.  Visual reasoning can be quite highly developed for those with SMS, with some people demonstrating exceptional memories for detail.

People with SMS are generally perceptive, engaging, fun and have a great sense of humour, all perfect when working with art.  Having something that a person has produced and is good at, is great for their self-esteem.

In concluding, the blog aims not only to inform but also to stimulate further thought and conversation on the complexities of Smith-Magenis Syndrome and its implications within the NDIS framework.