What is DYRK1A-related syndrome?
The syndrome caused by mutations in the DYRK1A gene is a multisystem disorder characterized by several features:
- Intellectual disability (ID)
All individuals show mild-severe ID. In approximately 2/3 of individuals a moderate to severe ID is present. - Autism spectrum disorder (ASD)
ASD is frequently diagnosed in individuals with a DYRK1A mutation. Behaviour is often characterised by stereotypic and anxious behaviour and sleep disturbances are common. - Speech problems
Many individuals don’t speak or use short word sentences. Expressive language is more severely affected compared to receptive language. - Feeding problems
Almost all individuals have feeding problems in infancy. Later in life feeding problems may persist and many individuals are known with a slender build. - Recognisable facial features
The majority shows typical facial features including a small head circumference, deep-set eyes, mild upslanting palpebral fissures, a short nose with a prominent tip, and a receding broad chin. - Seizures
Febrile seizures in childhood occur frequently. Epilepsy is present in a minority at adult age. - Movement disturbances
Many individuals show gait disturbances and an increased tightness of muscle tone (hypertonia). - Other
In a small subset of individuals various eye abnormalities have been observed, such as vision abnormalities, strabismus, early cataract, microphthalmia, retinal dystrophy, optic atrophy, coloboma and retinal detachment.
Also endocrine anomalies and cardiac anomalies such as left heart hypopasia, septum defects and pulmonic and aortic valve abnormalities have been noted.
Current information about DYRK1A mutations and deletions is based on the clinical information of a limited number of individuals. Therefore, information may be adapted based upon novel medical scientific information in the future.
How many people are affected by DYRK1A-related syndrome?
Based on current information the prevalence is estimated 1:200-1000 in individuals with an intellectual disability.
How is DYRK1A-related syndrome inherited?
The syndrome caused by mutations in the DYRK1A gene is inherited in an autosomal dominant manner.