Noll C, Kandiah J, Moroy G, Gu Y, Dairou J, Janel N. Nutrients. Home; Categories. 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. dyrk1a life expectancy. A novel de novo heterozygous DYRK1A mutation causes complete loss of DYRK1A function and developmental delay. Courcet JB, Faivre L, Malzac P, Masurel-Paulet A, Lopez E, Callier P, Lambert L, Lemesle M, Thevenon J, Gigot N, Duplomb L, Ragon C, Marle N, Mosca-Boidron AL, Huet F, Philippe C, Moncla A, Thauvin-Robinet C. The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy. PMC The DYRK1A gene provides instructions for making an enzyme that is important in the development of the nervous system. mutations in DYRK1A. PMC In the US, developmental preschool through the local public school district is recommended. Occupational therapy is recommended for difficulty with fine motor skills that affect adaptive function such as feeding, grooming, dressing, and writing. This site needs JavaScript to work properly. 2021 Sep 9. Symptoms vary from one child to the next. Start Here DYRK1A.org van Bon BWM, Coe BP, de Vries BBA, et al. contact: ude.wu@tssamda. 2015;23:14827. Permission is Vision consultants should be a part of the child's IEP team to support access to academic material. organizations. GeneReviews staff has selected the following disease-specific and/or umbrella Dendrites are specialized extensions from neurons that are essential for the transmission of nerve impulses. Wu BB, An Y, Qiu ZL, Wu BL. People with DYRK1A syndrome may also be more likely to have sensory processing disorder or be on the autism spectrum. Mechanism of disease causation. Oral motor dysfunction should be assessed at each visit and clinical feeding evaluations and/or radiographic swallowing studies should be obtained for choking/gagging during feeds, poor weight gain, frequent respiratory illnesses, or feeding refusal that is not otherwise explained. Ruaud L, Mignot C, Gut A, Ohl C, Nava C, Hron D, Keren B, Depienne C, Benoit V, Maystadt I, Lederer D, Amsallem D, Piard J. DYRK1A mutations in two unrelated patients.