Federal agency databases offer a rough estimate of life expectancy based on gender, national averages and other factors. U.S. Life Expectancy 1950-2023 | MacroTrends If your child has DYRK1A syndrome,find your tribe. mutations in DYRK1A. De novo genic mutations among a Chinese autism spectrum disorder cohort. Hoekzema K, Vives L, Xia L, Tang M, Ou J, Chen B, Shen Y, Xun G, Long M, Lin J, To date, 68 individuals have been reported with a pathogenic variant in DYRK1A [Mller et al 2008, van Bon et al 2011, Courcet et al 2012, O'Roak et al 2012, Redin et al 2014, Bronicki et al 2015, Ji et al 2015, Ruaud et al 2015, Luco et al 2016, van Bon et al 2016, Earl et al 2017, Evers et al 2017, Murray et al 2017, Blackburn et al 2019, Qiao et al 2019, Lee et al 2020]. Smith B, Medda F, Gokhale V, Dunckley T, Hulme C. ACS Chem Neurosci. Valetto A, Orsini A, Bertini V, Toschi B, Bonuccelli A, Simi F, Sammartino I, Taddeucci G, Simi P, Saggese G. Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy. Data on possible progression of behavior abnormalities or neurologic findings are still limited. Prognosis. Social work involvement for parental support. Noll C, Kandiah J, Moroy G, Gu Y, Dairou J, Janel N. Nutrients. Generalized hypertonia may already be noted during the first months of life. Treatment of manifestations: Educational and therapy programs to address the specific needs identified; routine treatment of epilepsy under the care of a neurologist; standard treatment for orthopedic, dental, cardiac, urogenital, ophthalmologic, constipation, and other medical issues. People with DYRK1A syndrome may also be more likely to have sensory processing disorder or be on the autism spectrum. DYRK1A syndrome is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly. Several strategies targeting the overdosage of DYRK1A in DS with specific kinase inhibitors have showed promising evidence that DS cognitive conditions can be alleviated. 2016 Jan;21(1):126-32. doi: 10.1038/mp.2015.5. Akey JM, Bernier R, Eichler EE, Shendure J. Multiplex targeted sequencing For more information, see the GeneReviews Copyright Notice and Usage We were fortunate enough to have a pediatrician who did his due diligence to find answers for us. Catechins as a Potential Dietary Supplementation in Prevention of Comorbidities Linked with Down Syndrome. This life expectancy calculator can give an idea of the life expectancy based on current age, smoking . Symptoms may include i. eonatal feeding issues, hypertonia, hypotonia, abnormal gait, foot abnormalities and eye problems. van Bon BW, Coe BP, Bernier R, Green C, Gerdts J, Witherspoon K, Kleefstra T, Willemsen MH, Kumar R, Bosco P, Fichera M, Li D, Amaral D, Cristofoli F, Peeters H, Haan E, Romano C, Mefford HC, Scheffer I, Gecz J, de Vries BB, Eichler EE. Eye abnormalities are common and typically include strabismus, astigmatism, and hypermetropia. The risk to offspring of an affected individual of inheriting the variant is 50%. Nat Recent advances in the design, synthesis, and biological evaluation of selective DYRK1A inhibitors: a new avenue for a disease modifying treatment of Alzheimer's? 2018 Sep 27;11(9):dmm035634. microcephaly, seizures, neonatal feeding issues, hypertonia, hypotonia, abnormal gait, foot abnormalities and eye problems. You can find even more stories on our Home page. safe word ideas for shifting; theatre designer beatrice minns. van Bon BW, Hoischen A, Hehir-Kwa J, de Brouwer AP, Ruivenkamp C, Gijsbers AC, Marcelis CL, de Leeuw N, Veltman JA, Brunner HG, de Vries BB. DYRK1A Syndrome Changes in the DRYK1A gene have been linked to intellectual disabilities, microcephaly, speech and language impairment, seizures, autism, and more. GeneReviews chapters are owned by the University of Washington. 2022 Aug 1;5(12):e202101205. Faivre L, Thevenon J, Riviere JB, Isidor B, Gan G, Francannet C, Willems M, Gunel Life Expectancy Calculator | John Hancock 10.1038/ejhg.2015.29. Molecular genetic testing in a child with developmental delay or an older individual with intellectual disability typically begins with chromosomal microarray analysis (CMA). It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to parents of affected individuals. Remaining Life Expectancy at Age X Based on Static And The life expectancy for U.S. in 2022 was 79.05 years, a 0.08% increase from 2021. They are all welcoming and it's nice to know that there is someone out there who gets it, who truly understands it. No genotype-phenotype correlations have been identified. -, Bronicki LM, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Rivire JB, Isidor B, Gan G, Francannet C, Willems M, Gunel M, Jones JR, Gleeson JG, Mandel JL, Stevenson RE, Friez MJ, Aylsworth AS. Dyrk1a is a murine homolog of the drosophila minibrain gene. Brain imaging may show findings indicative of global cerebral underdevelopment or hypomyelination. Jaxson also met milestones much later than his peers, he didnt roll over until he was about 9 months old, didnt crawl on all fours until he was 13 months old, and he didnt walk until he was 17 months old (now all he does is run). Smith ACM, Boyd KE, Brennan C, Charles J, Elsea SH, Finucane BM, Foster R, Gropman A, Girirajan S, Haas-Givler B. It has been found to be involved in many biological processes during development and in adulthood. Affected individuals often have a clinically recognizable phenotype including a typical facial gestalt, feeding problems, seizures, hypertonia, gait disturbances, and foot anomalies. How to Calculate Your Life Expectancy - US News & World Report Disclaimer, Developmental Delay / Intellectual Disability Management Issues, Dual specificity tyrosine-phosphorylation-regulated kinase 1A, Gene-targeted deletion/duplication analysis. Eval of nutritional status & safety of oral intake, Deciphering Developmental Disorders Study Group 2015, Syndromic X-Linked Intellectual Developmental Disorder Phenotypic Series, augmentative and alternative communication, GeneReviews Copyright Notice and Usage 2012 Apr 4;485(7397):246-50. doi: 10.1038/nature10989. This site needs JavaScript to work properly. Consultation with a developmental pediatrician is recommended to ensure the involvement of appropriate community, state, and educational agencies (US) and to support parents in maximizing quality of life. Some studies have had limited phenotypic descriptions; thus, information is not available on all features. chromosome 21. Other families have found DYRK1A syndrome by undergoing epilepsy or seizure panel testing. Regular lifelong follow up as determined by specialists for issues present affecting heart, eyes, and teeth is recommended. For questions regarding permissions or whether a specified use is allowed, Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. Commun. Clinical phenotype of ASD-associated DYRK1A haploinsufficiency. Earl RK, Turner TN, Mefford HC, Hudac CM, Gerdts J, Eichler EE, Bernier RA. Jayaraman D, Bae BI, Walsh CA. Sign up for Rare Weekly, The Mightys rare disease newsletter, to learn about a new rare condition every week. chromosome locus from Molecular genetic testing is recommended for the parents of the proband to confirm their genetic status and to allow reliable recurrence risk counseling. Reference to "pathogenic variants" in this section is understood to include any likely pathogenic variants. Widowati EW, Bamberg-Lemper S, Becker W. Mutational analysis of two residues in the DYRK homology box of the protein kinase DYRK1A. We support the children with this condition and the families that love them. Low threshold for clinical feeding eval &/or radiographic swallowing study if clinical signs or symptoms of dysphagia, Standardized treatment w/ASM by experienced neurologist. See Pitt-Hopkins Syndrome. Wanneer u onze sites en apps gebruikt, gebruiken we, gebruikers authenticeren, veiligheidsmaatregelen toepassen en spam en misbruik voorkomen, en, gepersonaliseerde advertenties en content weergeven op basis van interesseprofielen, de effectiviteit meten van gepersonaliseerde advertenties en content, en, onze producten en services ontwikkelen en verbeteren. Affected individuals often have a clinically recognizable phenotype including a typical facial gestalt, feeding problems, seizures, hypertonia, gait disturbances, and foot anomalies [van Bon et al 2016]. Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders. Unable to load your collection due to an error, Unable to load your delegates due to an error. DYRK1A syndrome is characterized by intellectual disability including impaired speech development, autism spectrum disorder with anxious and/or stereotypic behavior problems, and microcephaly. CNS Neurol Disord Drug Targets. Affected individuals often have a clinically recognizable phenotype including a typical facial gestalt, feeding problems, seizures, hypertonia, gait disturbances, and foot anomalies. Diagnosis/testing: Others take medications for acid reflux, seizures and epilepsy. Further analysis showed its haploinsufficiency in mental retardation disease 7 and its involvement in Alzheimer's disease. 2022 May 11;16:903729. doi: 10.3389/fncel.2022.903729. Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. Surveillance: Regular monitoring and guidance for educational and behavior problems, growth parameters and nutritional status, and safety of oral intake; regular lifelong follow up as determined by specialists for issues present affecting heart, eyes, and teeth. . Neuron. Genetic counseling is the process of providing individuals and families with Families often wait 15 to 20 years for answers but with improvements in technology, families are finding out much sooner. How many people are affected byDYRK1A-related syndrome? J. Life Expectancy Calculator - Bankrate Our first visit with our genetics team didnt bear any fruit, the microarray came back with no findings. PMC To live the best life he could live because his diagnosis doesn't define him. Life expectancy at birth for women in the United States dropped 0.8 years from 79.9 years in 2020 to 79.1 in 2021, while life expectancy for men dropped one full year, from 74.2 years in 2020 to 73.2 in 2021. Luco SM, Pohl D, Sell E, Wagner JD, Dyment DA, Daoud H. Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature. Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer's disease. Dosage Correction across Life Span in Down Syndrome Helin Atas-Ozcan 1, Vronique Brault 1, . The https:// ensures that you are connecting to the 5 Things You Should Know About DYRK1A Syndrome Neuron. This site needs JavaScript to work properly. Genes | Free Full-Text | Dyrk1a from Gene Function in - MDPI GeneReviews is not responsible for the information provided by other Note: Testing of parental leukocyte DNA may not detect all instances of somatic mosaicism and will not detect a pathogenic variant that is present in the germ cells only. Risk to future pregnancies is presumed to be low, as the proband most likely has a de novo DYRK1A pathogenic variant. Stepansky A, Troge J, Andrews P, Bekritsky M, Pradhan K, Ghiban E, Kramer M, Leslie Ray, One thing I would say is reach out, Find support. Initial Posting: December 17, 2015; Last Update: March 18, 2021. J Med Genet. DYRK1A-Related Intellectual Disability Syndrome Genet Med. Our little one blew his first kiss to me last week and has learned how to give us a hug. It brought me to tears. identifies recurrently mutated genes in autism spectrum disorders. The syndrome caused by mutations in the DYRK1A gene is a multisystem disorder characterized by several features: Current information about DYRK1A mutations and deletions is based on the clinical information of a limited number of individuals. Wu BB, An Y, Qiu ZL, Wu BL. Genes Dev. Developmental Disabilities Administration (DDA) enrollment is recommended. Clipboard, Search History, and several other advanced features are temporarily unavailable. The diagnosis of DYRK1A syndrome is established in a proband with suggestive findings and a heterozygous pathogenic variant in DYRK1A identified by molecular genetic testing. So you just found out that someone you love has DYRK1A Syndrome. Education of parents/caregivers regarding common seizure presentations is appropriate. DDA is a US public agency that provides services and support to qualified individuals. Even prior to the Covid-19 pandemic, life expectancy in the U.S. had been stagnant for nearly a decade. Dual specificity tyrosine-phosphorylation-regulated kinase 1A is an enzyme that in humans is encoded by the DYRK1A gene. Careers. To incl motor, adaptive, cognitive, & speech/language eval, Eval for early intervention/ special education, Mobility, ADL, & need for adaptive devices, To incl eval of aspiration risk & nutritional status & gastroesophageal reflux. When Jaxson was diagnosed in 2018, he was patient 176. Krumm N, Coe BP, Martin BK, Borenstein E, Nickerson DA, Mefford HC, Doherty D, microcephaly, seizures, neonatal feeding issues, hypertonia, hypotonia, abnormal gait, foot abnormalities and eye problems. Nevertheless, providing conditions for proper temporal treatment and to tackle the neurodevelopmental and the neurodegenerative aspects of DS across life span is still an open question. DYRK1A plays a role in major developmental steps of brain development, controlling the proliferation of neural progenitors, the migration of neurons, their dendritogenesis and the function of the synapse. make informed medical and personal decisions. doi: 10.26508/lsa.202101205. It may detect enlarged ventricles, myelination delay, cortical brain atrophy, hypoplasia of the corpus callosum, a small brain stem, and/or a hypoplastic pituitary stalk [Bronicki et al 2015, Ji et al 2015, van Bon et al 2016, Evers et al 2017]. A novel de novo heterozygous DYRK1A mutation causes complete loss of DYRK1A function and developmental delay. When Jaxson was diagnosed in 2018, the genetics team in Birmingham, Alabama were only able to provide us with a print off of what they could find on Google. An official website of the United States government. Our families may be scattered all over the globe but its nice to know that we are not alone and that other people understand our journey. The report shows the disparity in life expectancy between men and women grew in 2021 from 5.7 years in 2020 to 5.9 years in 2021. In the US, developmental preschool through the local public school district is recommended. 2015 Dec 17 [Updated 2021 Mar 18]. Autism-associated Dyrk1a truncation mutants impair Several missense pathogenic variants have also been identified; most are located in the kinase domain, clustering in the proximity of the ATP binding pocket and the catalytic center. An official website of the United States government. -, Earl RK, Turner TN, Mefford HC, Hudac CM, Gerdts J, Eichler EE, Bernier RA. C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, Reilly B, Akey HHS Vulnerability Disclosure, Help and transmitted securely. -, Deciphering Developmental Disorders Study Group Large-scale discovery of novel genetic causes of developmental disorders. 2022 Mighty Proud Media, Inc. All Rights Reserved. GeneReviews is a registered trademark of the University of Washington, Seattle. Ongoing assessment of need for palliative care involvement &/or home nursing. In adulthood, the nasal bridge may become high and the alae nasi underdeveloped, giving the nose a more prominent appearance [, Neonatal feeding difficulties that may persist, Epilepsy (febrile seizures, atonic seizures, absence seizures, and generalized myoclonic seizures), Behavioral problems such as autism spectrum disorder, anxiety, and/or sleep disturbances, Foot anomalies: mild cutaneous syndactyly of toes 2-4; hallux valgus; and short fifth toe, Vision abnormalities (strabismus, myopia, hypermetropia, retinal anomalies, optic atrophy, coloboma), Urogenital anomalies (undescended testes, hypoplastic scrotum, micropenis, inguinal hernia, renal abnormalities), For an introduction to multigene panels click, For an introduction to comprehensive genomic testing click. +93 20 22 34 790 info@aima.org.af. official website and that any information you provide is encrypted Treatment of manifestations: Educational and therapy programs to address the specific needs identified; routine treatment of epilepsy under the care of a neurologist; standard treatment for orthopedic, dental, cardiac, urogenital, ophthalmologic, constipation, and other medical issues. GeneReviews, 2005 Sep 16 [updated 2020 Oct 15]. Specific recommendations regarding type of therapy can be made by a developmental pediatrician. Some have only febrile seizures in infancy. 2014 Feb;13(1):26-33. doi: 10.2174/18715273113126660186. Life expectancy at age 0 projected for the population of Spain in the year 2029 and calculated on a basis of static life tables is 81.5 years in the case of males and 87.2 years in the case of females. Samsung's rumored new Z Fold 5 hinge is reportedly in testing - The Verge dyrk1a life expectancy An IEP provides specially designed instruction and related services to children who qualify. 2003;116:30993107. Murray CR, Abel SN, McClure MB, Foster J 2nd, Walke MI, Jayakar P, Bademci G, Tekin M. Novel causative variants in DYRK1A, KARS, and KAT6A associated with intellectual disability and additional phenotypic features. Federal government websites often end in .gov or .mil. Sporadic autism exomes reveal a highly interconnected protein network of de novo Permission is 2016 Nov 8;7:13316. doi: 10.1038/ncomms13316. However, iris coloboma, optic nerve dysfunction, corneal clouding, early cataract, and retinal detachment have also been reported [Bronicki et al 2015, Ji et al 2015, van Bon et al 2016, Earl et al 2017]. non-membrane spanning protein tyrosine kinase activity, protein serine/threonine/tyrosine kinase activity, positive regulation of protein deacetylation, regulation of alternative mRNA splicing, via spliceosome, negative regulation of mRNA splicing, via spliceosome, negative regulation of DNA damage response, signal transduction by p53 class mediator, negative regulation of microtubule polymerization, GRCh38: Ensembl release 89: ENSG00000157540, GRCm38: Ensembl release 89: ENSMUSG00000022897, "Genome-wide association study identifies single nucleotide polymorphism in DYRK1A associated with replication of HIV-1 in monocyte-derived macrophages", "Entrez Gene: DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A", "DYRK1A, a novel determinant of the methionine-homocysteine cycle in different mouse models overexpressing this Down-syndrome-associated kinase", "Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders", "Phosphorylation of Ser640 in muscle glycogen synthase by DYRK family protein kinases", "A human homologue of Drosophila minibrain (MNB) is expressed in the neuronal regions affected in Down syndrome and maps to the critical region", "Gene identification in 1.6-Mb region of the Down syndrome region on chromosome 21", "Murine protein kinase CK2 alpha': cDNA and genomic cloning and chromosomal mapping", "Sequence characteristics, subcellular localization, and substrate specificity of DYRK-related kinases, a novel family of dual specificity protein kinases", "The DNA sequence of human chromosome 21", "The kinase DYRK1A phosphorylates the transcription factor FKHR at Ser329 in vitro, a novel in vivo phosphorylation site", "Regulation of Gli1 transcriptional activity in the nucleus by Dyrk1", "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences", https://en.wikipedia.org/w/index.php?title=DYRK1A&oldid=1136084360, Overview of all the structural information available in the, This page was last edited on 28 January 2023, at 17:37. Trust me, we know how you feel. The majority of affected individuals function in the moderate-to-severe range of intellectual disability; however, individuals with mild intellectual disability have also been reported. -, Alvarez M., Estivill X., de la Luna S. DYRK1A accumulates in splicing speckles through a novel targeting signal and induces speckle disassembly. Disclaimer. Referral to an early intervention program is recommended for access to occupational, physical, speech, and feeding therapy as well as infant mental health services, special educators, and sensory impairment specialists. information on the nature, mode(s) of inheritance, and implications of genetic disorders to help them cases further delineate the syndromic intellectual disability phenotype caused by doi: 10.1016/0896-6273(95)90286-4. DYRK1A syndrome is caused by an alteration (deletion or duplication) in the DYRK1A gene on chromosome 21. dyrk1a life expectancy - tourdefat.com Once the DYRK1A pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing are possible. When one of the alleles doesn't function it causes a similar set of signs and symptoms that include: Microcephaly (small head and brain size) Low Birth Weight Feeding Issues at Birth (Frequent Vomiting) He can and he will. 8600 Rockville Pike 2012 Nov 21;3(11):857-72. doi: 10.1021/cn300094k. Data are compiled from the following standard references: gene from ED. van Bon BWM, Coe BP, de Vries BBA, et al. protein from UniProt. Disorders with Multiple Findings Suggestive of DYRK1A Syndrome. 1,853 Likes, 63 Comments - Fan Maps (@fanmaps) on Instagram: "Life Expectancy of Canada and United States by Province Like what I share? Symptoms may include intellectual disabilities, developmental delays. DYRK1A encodes the dual-specificity tyrosine phosphorylation-regulated kinase 1A, a highly conserved protein that plays an essential role in the development of the central nervous system. Large-scale discovery of novel genetic causes of developmental disorders. Recommended Surveillance for Individuals with DYRK1A Syndrome. Mller RS, Kbart S, Hoeltzenbein M, Heye B, Vogel I, Hansen CP, Menzel C, Ullmann R, Tommerup N, Ropers HH, Tmer Z, Kalscheuer VM. Keywords: disruptions in children on the autistic spectrum. Us20230029506a1 Delivery, Use and Therapeutic Applications of The Once the DYRK1A pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing are possible. No further modifications are allowed. Wij, Yahoo, maken deel uit van de Yahoo-merkenfamilie. The test is so extensive it can take anywhere between four to six months for results. To use the sharing features on this page, please enable JavaScript. Epub 2015 Apr 29. At least 11 DYRK1A gene mutations have been identified in people with autism spectrum disorder (ASD), a varied condition characterized by impaired social skills, communication problems, and repetitive behaviors. Curating this page" Down syndrome is the main cause of intellectual disabilities with a large set of comorbidities from developmental origins but also that appeared across life span. 2019;21:275564. YH, Narzisi G, Leotta A, Kendall J, Grabowska E, Ma B, Marks S, Rodgers L, MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. development. Bethesda, MD 20894, Web Policies Our doctor broke WGS down for us to help us better understand it. When the number of individuals evaluated with a particular feature is <50, a fraction (rather than a %) is used, with the denominator indicating the total number evaluated for the feature. This member contains a nuclear targeting signal sequence, a protein kinase domain, a leucine zipper motif, and a highly conservative 13-consecutive-histidine repeat. Before Genes and Databases for chromosome locus and protein. It may play a significant role in a signaling pathway regulating cell proliferation and may be involved in brain development. DYRK1A syndrome is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly. Based on current data, life span is not limited by this condition as several adult individuals have been reported. U.S. Department of Health and Human Services, dual specificity tyrosine-(Y)-phosphorylation regulated kinase 1A. Beyond that, private supportive therapies based on the affected individual's needs may be considered. Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome. Genetic counseling: Varjosalo M., Keskitalo S., Van Drogen A., Nurkkala H., Vichalkovski A., Aebersold R., Gstaiger M. The protein interaction landscape of the human CMGC kinase group. Most people with ASD associated with DYRK1A gene mutations also have other signs and symptoms. DYRK1A syndrome is still relatively new within the medical community. Heterozygous DYRK1A loss-of-function pathogenic variants include disruptive balanced translocation, deletion, and truncating sequence variants. Accessibility Gene-targeted deletion/duplication testing will detect deletions ranging from a single exon to the whole gene; however, breakpoints of large deletions and/or deletion of adjacent genes (e.g., those described by Oegema et al [2010] and Valetto et al [2012]) may not be detected by these methods. We support the children with this condition and the families that love them. here. DYRK1A pathogenic variant, the risk to other family members is presumed to be low. Normalizing the gene dosage of Dyrk1A in a mouse model of Down syndrome rescues several Alzheimer's disease phenotypes. The DYRK1A enzyme is a kinase, which means that it adds a cluster of oxygen and phosphorus atoms (a phosphate group) to other proteins through a process called phosphorylation. When feeding dysfunction is severe, an NG-tube or G-tube may be necessary. We are a small but growing community of families that care for someone with a change affecting the DYRK1A gene. FOIA Sensory impairment. This genetic change can lead to a variety of symptoms which will vary from person to person. professional. Many ASMs may be effective; none has been demonstrated effective specifically for this disorder. use. DYRK1A syndrome is caused by an alteration (deletion or duplication) in the DYRK1A gene on chromosome 21. The majority are described as having a broad-based/ataxic gait [. Based on current information the prevalence is estimated1:200-1000 in individuals with an intellectual disability. contact: ude.wu@tssamda. [8], DYRK1A is localized in the Down syndrome critical region of chromosome 21, and is considered to be a strong candidate gene for learning defects associated with Down syndrome. Prior to his diagnosis, he was misdiagnosed with laryngomalacia and Prader Willi syndrome. Careers. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. Stenson PD, Mort M, Ball EV, Chapman M, Evans K, Azevedo L, Hayden M, Heywood S, Millar DS, Phillips AD, Cooper DN. To establish the extent of the disease and needs in an individual diagnosed with DYRK1A syndrome, the evaluations summarized in Table 4 (if not performed as part of the evaluation that led to diagnosis) are recommended.