{"id":1381,"date":"2026-06-14T20:30:24","date_gmt":"2026-06-14T20:30:24","guid":{"rendered":"https:\/\/curetaok1.org\/?page_id=1381"},"modified":"2026-08-14T12:47:31","modified_gmt":"2026-08-14T12:47:31","slug":"faq","status":"publish","type":"page","link":"https:\/\/curetaok1.org\/?page_id=1381","title":{"rendered":"FAQ"},"content":{"rendered":"\t\t
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<\/p>\n

In brief<\/h2>\n

Here we have gathered answers to the questions most often asked by parents and loved ones of people with TAOK1-associated neurodevelopmental disorder (TAOK1-NDD) – especially right after receiving the diagnosis. All answers are based exclusively on peer-reviewed scientific publications and curated genetic databases (the full list of sources is at the bottom of the page). Where science does not yet know the answer, we say so openly – honesty toward families matters more to us than false certainty.

<\/p>\n

What does the name “TAOK1” mean?<\/h3>\n

TAOK1 stands for Thousand And One amino acid Kinase 1<\/em>. The name comes from the length of the protein encoded by this gene, which consists of exactly 1,001 amino acids. The gene is located on chromosome 17, and the protein it encodes (TAO1 kinase) is an enzyme essential, among other things, for normal brain development.<\/p>\n

What is the difference between “the TAOK1 gene” and “the TAOK1 disorder”?<\/h3>\n

Every human being has the TAOK1 gene – it is a normal part of our DNA. The disease arises only when a pathogenic variant (a harmful change) occurs in one of the two copies of the gene. We then speak of TAOK1-associated neurodevelopmental disorder<\/strong> (TAOK1-NDD), which appears in the OMIM classification under number #619575<\/code> as “developmental delay with or without intellectual impairment or behavioral abnormalities” (DDIB).<\/p>\n

How rare is this condition?<\/h3>\n

Very rare. The first cases were scientifically described only in 2019. The largest study to date (Elkhateeb et al., 2025) included 50 patients and compared them with 38 individuals previously described in the literature – so fewer than one hundred people worldwide have been documented in scientific publications in total. The true number is almost certainly higher: the diagnosis requires exome or genome sequencing, and these tests are still not performed routinely. As genetic diagnostics becomes more widespread, the number of diagnoses grows year by year.<\/p>\n

How does TAOK1 differ from TAOK2?<\/h3>\n

They are two related genes from the same TAO kinase family (which also includes TAOK3). Variants in each of them, however, cause distinct disorders. The 2025 study was the first to delineate the two clinical pictures: TAOK1-NDD is dominated by developmental delay, macrocephaly (83%), and hypotonia (58%), whereas TAOK2-NDD is characterized by neurodevelopmental abnormalities with frequent autism (75%), macrocephaly (75%), and obesity (70%).<\/p>\n

Is it our fault? Could we have prevented it?<\/h3>\n

No.<\/strong> In most described cases, the variant arose de novo<\/em> – as a new, spontaneous change in a reproductive cell of one of the parents or at a very early stage of embryonic development. Such changes occur randomly in every human being; they do not result from anything the parents did or did not do – either before or during pregnancy. They cannot be predicted or prevented.<\/p>\n

If the variant arose de novo, could our next child also be affected?<\/h3>\n

If trio testing has confirmed that the variant arose de novo (it is not present in either parent’s blood), the risk of recurrence in a future pregnancy is low, though not zero – which is why a precise, individual risk assessment should always be carried out by a clinical geneticist at a genetic counseling clinic. The situation is different when the variant was inherited from a parent \u2014 in that case, the risk of passing it on to each subsequent child is 50%.<\/p>\n

Does a parent carrying a TAOK1 variant always have symptoms?<\/h3>\n

Not always – and this is one of the most important things we know about this condition. In 2022, a sibling pair was described who inherited the variant from a mother with very mild symptoms (minor learning difficulties, macrocephaly). TAOK1-NDD shows incomplete penetrance and variable expressivity<\/strong>: the same genetic change can produce symptoms of vastly different severity in different people – even within one family. This is precisely why testing of both parents is recommended once a variant is detected in a child.<\/p>\n

How is TAOK1-NDD inherited?<\/h3>\n

In an autosomal dominant<\/strong> manner – a pathogenic variant in one of the two copies of the gene is enough for the disorder to occur. A person carrying the variant has a 50% chance of passing it on to each of their children, regardless of sex.<\/p>\n

Does every child with TAOK1-NDD have the same symptoms?<\/h3>\n

No. The clinical picture is highly variable – from mild learning difficulties to significant intellectual disability. No described patient has had all of the symptoms mentioned in the literature. Symptom lists (including on our “What is TAOK1?” page) describe the full spectrum of what has ever been observed – not a prognosis for any particular child.<\/p>\n

Will my child walk and talk?<\/h3>\n

This question cannot be answered in general terms – the range of outcomes is very wide. The scientific literature does, however, offer one encouraging observation: many children catch up on motor developmental milestones over time<\/strong> (sitting, walking), and some reach them at an age similar to their peers. Speech and language difficulties tend to be more persistent – in studies, they continued in the majority of children assessed after the age of 3. That is why early speech and language therapy and augmentative and alternative communication (AAC) are so important.<\/p>\n

Is TAOK1-NDD the same as autism?<\/h3>\n

No, although the two overlap. TAOK1-NDD is a genetic disorder with a broad clinical picture, one possible element of which is autism spectrum disorder or autistic traits – described in approx. 31% of patients in the 2025 cohort. This also means that the majority of described individuals with TAOK1-NDD did not have an autism diagnosis. ADHD and other behavioral difficulties have also been reported in some patients.<\/p>\n

Does epilepsy occur in TAOK1-NDD?<\/h3>\n

Rarely. In the largest described cohort (50 patients), epileptic seizures were reported in 4 individuals – and one of them had a second genetic diagnosis (a variant in the SLC6A1 gene) that itself explains the epilepsy. If a child experiences seizures or concerning episodes, they always require neurological evaluation – just as for any other child.<\/p>\n

Is the condition progressive? Can a child lose skills?<\/h3>\n

In the literature to date, TAOK1-NDD is not described as a progressive (neurodegenerative) condition. In the 2025 cohort, developmental regression was noted in only one individual – who also carried an additional variant of uncertain significance in another gene (CDKL5). Children with TAOK1-NDD develop and acquire new skills, though often at their own pace.<\/p>\n

Why does my child have a large head? Is it dangerous?<\/h3>\n

Macrocephaly (head circumference more than 2 standard deviations above the mean) is one of the most common features of TAOK1-NDD – it was found in 83% of patients in the 2025 cohort, in some children already at birth. Brain imaging revealed enlargement of the ventricular system (ventriculomegaly) in some patients, but in many individuals brain imaging is normal. The assessment of whether – and what kind of – diagnostics or follow-up is needed always belongs to the neurologist or pediatrician caring for the child.<\/p>\n

What is the life expectancy of people with TAOK1-NDD?<\/h3>\n

The honest answer is: science does not yet know<\/strong>. The condition was described only in 2019, and the vast majority of documented patients are children and young people – so no long-term observational data or published statistics on life expectancy exist. The literature to date has not described any features of the condition that would indicate a progressive course.<\/p>\n

Which test detects TAOK1-NDD?<\/h3>\n

Exome sequencing (WES) or whole-genome sequencing (WGS) – it is these methods that led to the identification of nearly all known patients. Routine tests (blood counts, metabolic tests, karyotyping) do not detect point variants in TAOK1. The optimal approach is a trio test<\/strong> (child + both parents), which immediately establishes whether the variant arose de novo or was inherited.<\/p>\n

What do the terms on the test result mean: “pathogenic,” “likely pathogenic,” “VUS”?<\/h3>\n

Laboratories classify detected variants according to international criteria. “Pathogenic” and “likely pathogenic” mean that the accumulated evidence indicates the change is disease-causing. VUS<\/strong> (variant of uncertain significance<\/em>) means that the available evidence is insufficient either to establish the variant as the cause of the disease or to rule it out. A variant’s classification may change over time as new data emerge – which is one reason why submitting variants to international databases such as ClinVar, and periodically contacting the genetic clinic about reinterpretation of the result, is so important.<\/p>\n

A TAOK1 variant was found in our child. Should we, the parents, get tested too?<\/h3>\n

Yes, this is recommended. First, testing the parents establishes whether the variant arose de novo – which is crucial for assessing risk in future pregnancies. Second, cases have been described of the variant being inherited from a parent with very mild, previously unnoticed symptoms. The decision about the scope of testing is best made together with a clinical geneticist.<\/p>\n

Is there a cure for TAOK1-NDD?<\/h3>\n

At present, there is no causal treatment<\/strong> \u2014 no therapy yet repairs the effects of a variant in the TAOK1 gene, and no clinical trial results for such a therapy have been published in the literature to date. Care is symptomatic and multidisciplinary: physical therapy, speech and language therapy and AAC, feeding support, neurological care, psychological and educational support, and consultations with other specialists depending on symptoms. We describe this in detail on the “What is TAOK1?” page.<\/p>\n

Is work underway on a causal therapy?<\/h3>\n

Knowledge about the TAOK1 gene and its role in brain development is growing very quickly – only six years passed between the first description of the condition in 2019 and the largest cohort study in 2025. In parallel, the entire field of genetic therapies for rare neurodevelopmental disorders is developing dynamically. The mission of our foundation is to connect families and scientists and to support research that will bring a causal therapy for TAOK1-NDD closer.<\/p>\n

Which specialists should we see after the diagnosis?<\/h3>\n

Depending on the child’s symptoms, the care team most often includes: a clinical geneticist<\/strong> (interpretation of the result, family counseling), a pediatric neurologist<\/strong>, a physiotherapist<\/strong> (hypotonia, joint laxity), a speech and language therapist<\/strong>, a psychologist<\/strong>, and, if needed, also a gastroenterologist (feeding difficulties, reflux), a cardiologist, an endocrinologist, or an orthopedist. Early developmental intervention is also important – the earlier therapy begins, the better.<\/p>\n

Can a child with TAOK1-NDD attend a mainstream school?<\/h3>\n

It depends on the child’s individual profile – the spectrum of abilities is very wide, from mild learning difficulties to significant intellectual disability. Some children function in mainstream education (often with support), while others need integrated or special education. The decision is best made based on the assessment of the team of specialists working with the child.<\/p>\n

Where can we find other families with this diagnosis?<\/h3>\n

You are not alone. Our foundation brings together an international community of families from around the world – contact us through this website and we will help you join the parent group. A free, plain-language guide to TAOK1-NDD prepared by the British organization Unique (Rare Chromosome Disorder Support Group) is also available for families – you will find the link in the sources below.<\/p>\n

How can we help advance TAOK1 research?<\/h3>\n

Several things make a real difference: make sure your child’s variant has been submitted to the ClinVar database (ask your laboratory or genetic clinic about this – every submitted variant helps other families interpret their results), join the family community, consider taking part in patient registries and research studies as they are established, and support the foundation’s work. The more documented patients and data there are, the faster science can move forward.<\/p>\n

Sources<\/h2>\n

All information on this page comes from peer-reviewed scientific publications and curated genetic databases:<\/p>\n

    \n
  1. Elkhateeb N. et al. Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.<\/em> Genetics in Medicine, 2025;27(3). https:\/\/www.gimjournal.org\/article\/S1098-3600(24)00282-X\/fulltext<\/a><\/li>\n
  2. van Woerden G.M. et al. TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.<\/em> Human Mutation, 2021;42(4). https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.24176<\/a><\/li>\n
  3. Hunter J.M. et al. Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.<\/em> Cold Spring Harbor Molecular Case Studies, 2022;8(2). https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC8958914<\/a><\/li>\n
  4. Dulovic-Mahlow M. et al. De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.<\/em> American Journal of Human Genetics, 2019. https:\/\/www.sciencedirect.com\/science\/article\/pii\/S0002929719301910<\/a><\/li>\n
  5. OMIM #619575<\/code> \u2014 Developmental delay with or without intellectual impairment or behavioral abnormalities (DDIB). https:\/\/omim.org\/entry\/619575<\/a><\/li>\n
  6. ClinGen \u2014 TAOK1 dosage sensitivity curation. https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/HGNC:29259<\/a><\/li>\n
  7. Unique \u2014 Rare Chromosome Disorder Support Group: TAOK1-related neurodevelopmental disorder<\/em> (family guide, 2025). https:\/\/rarechromo.org\/media\/singlegeneinfo\/Single%20Gene%20Disorder%20Guides\/TAOK1-related%20neurodevelopmental%20disorder%20FTNW.pdf<\/a><\/li>\n<\/ol>\n

    This content is for informational purposes only and does not replace medical advice. Last updated: August 2026.<\/u><\/b><\/p>\n

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