In the realm of occupational therapy, practitioners often find themselves supporting children with intricate medical conditions such as Phelan-McDermid syndrome (PMS). Individuals with this complex medication condition are born with a genetic difference in their 22nd chromosome, where there is a deletion or change in the variant. Alternatively, PMS can also be referred to as 22q13 deletion syndrome as a result of the location of the genetic change in the body. Chromosome 22 contains hundreds of genes that provide instructions for making proteins that perform various roles in the body. When a part of this DNA is missing in the chromosome, or, isn’t quite functioning the way it typically should, it can lead to altered brain development and functioning. As a result, intellectual and physical disabilities are apparent, with most individuals requiring long-term care and medical intervention.
Symptoms of PMS manifest diversely in affected individuals, ranging from mild to severe, dictated by the extent of the genetic mutation. While hypotonia (low muscle tone), developmental delays, and speech impairments are common, additional challenges such as intellectual disabilities, sleep disturbances and behavioural issues may also arise. Identifying these symptoms early is crucial, as they often surface in infancy or early childhood, although diagnosis may occur later in life.
Individuals with Phelan-McDermid syndrome often show symptoms very early in childhood, sometimes at birth and within the first six months of life. Developmental delays associated with the syndrome include not achieving typical milestones on time, like rolling over, sitting up, walking, or talking.
Despite its rarity, an estimated 1 in 10,000 individuals present with PMS and significant diagnostic challenges. The Phelan-McDermid Syndrome Foundation, boasting over 3, 100 members, serves as a vital resource for those navigating the condition, highlighting the importance of awareness and understanding within the medical community.
PMS can significantly impact the way in which an individual functions within their day-to-day occupations. Specifically, occupations requiring cognitive, motor and social functioning are noted to be most common. The ways in which PMS can impact the daily life of individuals include:
- Cognition: As individuals with PMS often experience an intellectual disability, this impacts their ability to learn new concepts, problem solve and process information, impacting their academic and vocational performance in a variety of settings.
- Communication: Due to PMS affecting an individual’s communication skills, this in turn impacts their ability in voicing their thoughts and feelings, participate in both expressive and reciprocal conversation styles and their overall understanding of verbal instructions.
- Motor Skills: PMS impacts and individual’s ability in executing fine and gross motor skills. This can affect a variety of self-care occupations such as feeding and dressing, handwriting development and their impact in participating in sports and recreation activities.
- Social: Individuals with PMS encounter challenges with reading social cues, initiating play with peers, maintaining relationships and navigating social conflict.
- Sensory Processing: Those with PMS can experiences either hypersensitivity or hyposensitivity to a variety of sensory stimuli. This can functionally impact their participation and comfort levels in a variety of tasks.
- Medical: Lastly, individuals diagnosed with PMS can experience medical conditions inclusive of seizures, sleep disturbances and gastrointestinal issues, all which impact their daily participation and functioning in routines and occupations.
With the above in mind, you may be wondering how Occupational Therapists can facilitate intervention with individuals diagnosed with PMS. OT’s play a pivotal role in supporting individuals with PMS, employing tailored interventions to enhance various aspects of their daily living.
Below is a list of the areas with examples of sub-skills in which OT’s can target throughout their course of intervention:
- Fine Motor Skills e.g. handwriting.
- Self-Care Skills e.g. dressing and feeding.
- Community Access e.g. road safety, navigation, stranger danger.
- Gross Motor Skills e.g. motor planning, core strength, bilateral coordination.
- Sensory Processing e.g. managing and supporting individualised needs.
- Executive Functioning e.g. ability to plan, organise and execute daily living tasks.
For further information on PMS, you can access the https://pmsfaustralia.org.au/ website to empower individuals living with PMS and assist them in living fulfilling lives.
