A four year old boy named Tate from Swansea in Wales has recently been diagnosed with Sanfilippo syndrome type A. This condition is one of several disorders described as childhood dementia because it gradually affects memory, behaviour, and physical abilities. His parents began seeking help when they noticed delayed speech and differences in his development. An MRI in March 2024 showed concerning findings, which led to genetic testing and the final diagnosis.
Sanfilippo syndrome type A occurs when the body lacks an essential enzyme that helps break down a complex sugar called heparan sulfate inside lysosomes.[1] These lysosomes act as the cell’s recycling system. When heparan sulfate is not cleared properly, it builds up inside cells, especially in the brain. Over time, this build up interferes with how neurons function and leads to ongoing neurodegeneration. Childhood dementia disorders often follow this pattern of slow but steady decline in thinking, movement, and behaviour.[2]
Children with this condition usually appear healthy at birth. Symptoms often start between two and six years of age.[1] Early features may include delayed speech, behavioural challenges, hyperactivity, sleep problems, repeated ear or throat infections, and digestive issues. As the disease advances, children may gradually lose skills they had gained earlier. This can include walking, speaking, and other daily activities. Seizures may also develop.[2]
In Tate’s case, his parents shared that he has never spoken, and specialists have explained that he may lose significant motor abilities as the condition progresses. Children with Sanfilippo syndrome type A often have a shortened life span, typically ranging from late childhood to adolescence.
Many children with early symptoms of Sanfilippo syndrome are first assessed for more common conditions such as autism. Tate experienced a similar path at age two. This is because early changes in speech or behaviour can look similar. Since childhood dementia disorders are rare, they are not usually considered in the initial stages of evaluation.[2] Broader studies on childhood dementia show that most of these conditions are genetic and often inherited, which adds another layer of complexity when families seek answers.[1]
There is currently no cure for Sanfilippo syndrome type A.[1] The focus of treatment is supportive care that aims to maintain comfort and function for as long as possible. Children often require a team of specialists, including neurologists, physiotherapists, gastrointestinal experts, respiratory care providers, and behavioural health professionals.[2]
Research continues to explore new approaches such as gene therapy, enzyme based therapies, and better biomarkers that can help track disease progression.[2] However, only a small number of childhood dementia conditions currently have disease modifying treatments. Families like Tate’s rely on ongoing care and monitoring to manage symptoms and maintain quality of life.
Tate’s diagnosis draws attention to a group of conditions that remain largely unrecognised in early childhood. It highlights the need for clinicians to consider genetic and metabolic causes when children begin to lose developmental skills. Early identification is important because it supports timely care planning and offers families a chance to explore research based treatment pathways.
What is childhood dementia and how does it develop?
Childhood dementia happens when certain medical conditions slowly damage a child’s brain, affecting memory, behaviour, and movement. Disorders like Sanfilippo syndrome cause harmful substances to build up in brain cells, leading to gradual decline.
How does Sanfilippo syndrome affect brain function in children?
Sanfilippo syndrome causes a buildup of heparan sulfate in the brain, leading to inflammation and gradual loss of brain cells. Over time, children may lose skills like talking, walking, and interacting the way they used to.
Why is early diagnosis so important in childhood neurodegenerative disorders?
Early diagnosis helps families understand what’s happening and plan care before symptoms worsen. It also gives children the chance to benefit from supportive therapies and emerging treatments or clinical trials.
What symptoms should parents and clinicians look out for?
Parents may first notice changes in speech, behaviour, sleep, or a child losing skills they previously had. In Sanfilippo syndrome, increased activity levels and developmental regression often appear early.
Are there any promising therapies under investigation?
Researchers are studying treatments like gene therapy, enzyme replacement, and medicines that reduce harmful buildup in cells. While still in early stages, some approaches show hope for slowing disease progression.
How does childhood dementia impact families emotionally and socially?
Families often struggle emotionally as they see their child’s abilities change over time. Continuous care needs, uncertainty about the future, and frequent medical visits can affect daily life and family wellbeing.
Elvidge KL, Christodoulou J, Farrar MA, Tilden D, Maack M, Valeri M, Ellis M, Smith NJC; Childhood Dementia Working Group. The collective burden of childhood dementia: a scoping review. Brain. 2023 Nov 2;146(11):4446-4455. doi: 10.1093/brain/awad242. PMID: 37471493; PMCID: PMC10629766.
Djafar JV, Johnson AM, Elvidge KL, Farrar MA. Childhood Dementia: A Collective Clinical Approach to Advance Therapeutic Development and Care. Pediatr Neurol. 2023 Feb;139:76-85. doi: 10.1016/j.pediatrneurol.2022.11.015. Epub 2022 Dec 1. PMID: 36571866.
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