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What is Sotos Syndrome?

Feb 29th, 2024 | by Pauline Chuang

Pauline Chuang

February 29th, 2024

What is Sotos Syndrome?

Sotos syndrome is also known as cerebral gigantism. It is a rare condition that affects an estimated 1 in every 14,000 births. Children with Sotos syndrome tend to have a larger head (macrocephaly) and are also taller and heavier than their peers.

What is the Cause of Sotos Syndrome?

Sotos syndrome is caused by a mutation in the NSD1 gene on chromosome 5. The NSD1 gene gives our body instructions on how to grow and develop. This gene mutation occurs sporadically and is not inherited.

What Are Some Challenges Children With Sotos May Face?

  • Excessive growth during the first 2-3 years of life
  • Cognitive impairment (ranging from mild to severe)
  • Hypotonia (low muscle tone)
  • Global developmental delay
  • Behavior issues (i.e., hyperactivity, impulsivity, difficulty with social interaction)

Please note: the severity and combination of symptoms can vary widely among individuals with Sotos syndrome.

What Are Some Treatment Options for Sotos Syndrome?

As Sotos syndrome is a genetic condition, there is currently no cure. Treatment primarily focuses on any medical or developmental issues. Early intervention should begin as soon as a diagnosis has been made as it can result in significant improvements in gross motor, fine motor, and communication skills.

  • Physiotherapy may focus on improving mobility, muscular strength, coordination, and endurance.
  • Occupational therapy may target improving postural security, upper limb strength, upper extremity function, and posture to support activities of daily living, such as dressing.
  • Speech and language pathology may support with increasing age-appropriate play skills, speech intelligibility (i.e., ability to be understood), developing expressive (i.e., using) and receptive (i.e., understanding) language.

About the Author

As a creative and dedicated physiotherapist, Pauline always strives to create a supportive environment for kids to develop the confidence and competence to reach their goals. She believes in making therapy fun, interactive, and individualised so that it is enjoyable and meaningful to each child. You can spot Pauline at NAPA with the biggest smile, colorful socks, and contagious enthusiasm & positivity.

About NAPA Centre 

Learn about Joubert syndrome and therapy options at NAPA Centre Paediatric therapy clinics in Austalia, UK, and US.NAPA specialises in working with children with physical and neurological delays. In addition to working with children with more common diagnoses such as cerebral palsy and Down syndrome, NAPA has a special interest and expertise with children with rare, multiple and complex conditions. NAPA Centre’s Intensive Model of Therapy (IMOT) is world-renowned, and one of the leading clinics in Australia for paediatric therapy programs with a large multi-discliplinary team of Occupational Therapists, Physiotherapists and Speech Therapists all working together. Families routinely travel from all parts of Sydney, the NSW region, from across Australia and even from the Australasian region to access NAPA’s unique and effective programs for their children.

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