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CDD is a rare condition, with only 1.7 cases per 100,000. [13] [14] [15]A child affected with childhood disintegrative disorder shows normal development. Up until this point, the child has developed normally in the areas of language skills, social skills, comprehension skills, and has maintained those skills for about two years.
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).
Angelman syndrome, autism, cerebral palsy, childhood disintegrative disorder, various neurodegenerative disorders [6] Treatment: Special education, physiotherapy, braces [5] Medication: Anticonvulsants [5] Prognosis: Life expectancy for many is middle age. [5] Frequency: 1 in 8,500 females [4] Lethal in males, with rare exceptions.
[17] [18] The second pattern, childhood disintegrative disorder (a diagnosis now included under ASD in the DSM, but not the ICD), is characterized by regression after normal development in the first 3 to 4, or even up to 9 years of life. [19] After the regression, the child follows the standard pattern of autistic neurological development.
Pervasive developmental disorder not otherwise specified (PDD-NOS), which includes atypical autism, and is the most common (47% of autism diagnoses); [10] Typical autism, the best-known; Asperger syndrome (9% of autism diagnoses); Rett syndrome; and; Childhood disintegrative disorder (CDD).
Developmental regression is associated with diagnoses of autism spectrum disorder, [3] childhood disintegrative disorder, [4] Rett syndrome, [5] Landau-Kleffner syndrome, [6] and neuro-degenerative diseases. [7] The loss of motor, language, and social skills can be treated with occupational therapy, [8] physical therapy, [9] and speech therapy ...
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]
Those affected have a nearly normal life expectancy. [6] AS affects 1 in 12,000 to 20,000 people. [6] Males and females are affected with equal frequency. [7] It is named after British pediatrician Harry Angelman, who first described the syndrome in 1965. [7] [10] An older term, happy puppet syndrome, is generally considered pejorative. [11]