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CDD is a rare condition although >1,000 cases have been reported worldwide; 80-90% of the cases are female [4] While originally classified as an atypical variant of Rett syndrome, CDKL5 Deficiency Disorder (CDD) is an independent disorder and results from a pathogenic variant in a different gene (CDKL5 in CDD; MECP2 in Rett).
CDK13-related disorder, also known as congenital heart defects, dysmorphic facial features and intellectual developmental disorder (CHDFIDD), is a very rare autosomal dominant genetic condition characterised by congenital heart defects, intellectual disability and characteristic facial features.
The scientific study of the causes of developmental disorders involves many theories. Some of the major differences between these theories involves whether environment disrupts normal development, if abnormalities are pre-determined, or if they are products of human evolutionary history which become disorders in modern environments (see evolutionary psychiatry). [5]
CASK, being a multidomain protein, is found to interact with multiple molecules including neurexin, [10] syndecan [11] and Mint1, [12] playing an important synaptic function, and also possibly plays a role in cell proliferation and cell polarization. [13] [14] In addition, CASK is now thought to be involved in neurotransmission. [15]
Developmental disability is a diverse group of chronic conditions, comprising mental or physical impairments that arise before adulthood. Developmental disabilities cause individuals living with them many difficulties in certain areas of life, especially in "language, mobility, learning, self-help, and independent living". [1]
The prognosis is poor in this condition, [3] and most children die before the age of 10. [4] However, some survive to adulthood, especially if they have a non-classical (mild) form of RCDP. [4] Children with classical, or severe, RCDP1 have severe developmental disabilities.
The disorder may be accompanied by autism, [1] mild intellectual disability, delayed motor, cognitive, and social development, hypotonia (low muscle tone), and speech impairments. Children with Sotos syndrome tend to be large at birth and are often taller, heavier, and have relatively large skulls ( macrocephaly ) than is normal for their age.
The hallmark features of the syndrome are intellectual disability, global developmental delays, global motor planning delays, and autism spectrum disorder (ASD) or autistic features. Although ADNP syndrome was only identified in 2014, it is projected to be one of the most frequent single-gene causes of ASD. [3]