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What is STXBP1 Associated Epileptic Encephalopathy?

Feb 29th, 2024 | by Hannah Bennett

Hannah Bennett

February 29th, 2024

What is STXBP1 Associated Epileptic Encephalopathy?

STXBP1 associated epileptic encephalopathy is a rare genetic disorder causing early and severe infantile epilepsy. This condition is rare with only 750 cases known worldwide. STXBP1 Associated Epileptic Encephalopathy onset of seizures ranges from first day of life to adolescence, therefore the age of diagnosis varies.

What is the Cause of This Condition?

STXBP1 associated epileptic encephalopathy is caused by pathogenic variants or mutations in the STXBP1 gene. It can affect both females and males equally. The mutation occurs spontaneously and is not passed down from parents to children.

What Are Some Challenges Children With STXBP1 Associated Epileptic Encephalopathy Will Face?

What Are Some Treatment Options for STXBP1 Associated Epileptic Encephalopathy?

Early intervention should begin as early as possible for children diagnosed with STXBP1 associated epileptic encephalopathy as this can result in significant improvements in gross motor, fine motor, feeding, and communication skills. Speech pathology may support access to communication using assistive technology, oral motor strength, and feeding skills. Physiotherapy may focus on improving mobility, muscular strength, coordination, and endurance. Occupational therapy may target improving upper limb strength, fine motor skills, and posture to support activities of daily living, such as dressing.

About the Author

Hannah’s experience working with children with intellectual and physical disabilities has led to her interest in Augmentative and Alternative Communication (AAC) and Early Language Development. Hannah always had a passion for working in the disability community, even prior to becoming a Speech Pathologist. Hannah loves an integrated approach across multiple disciplines to allow collaborative plans with families and caregivers to achieve the best outcomes for clients. In her spare time, you’ll find at the beach or exploring a new bushwalk with her dog Patch.

About NAPA Centre

In this blog, we discuss causes, characteristics, therapy and treatment options for Down syndrome.At NAPA Centre, we take an individualised approach to therapy because we understand that each child is unique with very specific needs. We embrace differences with an understanding that individualised programs work better. For this reason, no two therapeutic programs are alike. If your child needs our services, we will work closely with you to select the best therapies for them, creating a customised program specific to your child’s needs and your family’s goals. Let your child’s journey begin today by contacting us to learn more.

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