An Overview of Phelan Mcdermid Syndrome Psychology Essay
Phelan - McDermid syndrome PMS also refers to q13. syndrome, is a congenital condition resulting from a microdeletion in the SHANK. Cognitive and communication deficits, as well as autism spectrum behaviors, are often noted in affected individuals. The aim of the present study was to obtain a detailed phenotype of Phelan McDermid syndrome. PMS q syndrome is a rare genetic disorder characterized by developmental delay, hypotonia, and absent or severely delayed speech. 1, 2 Specific behavioral problems, 3, 4 Minor physical problems. abnormalities, seizures, 1, 3 and sleep disturbances, 5, 6 are commonly described in children and adults with Phelan-McDermid syndrome PMS is a genetic disorder caused by SHANK and characterized by a wide range of neurological and systemic manifestations. The first practice parameters for assessment and monitoring in individuals with PMS have recently been published. Phelan-McDermid Syndrome PMS is a rare neurodevelopmental disorder also known as Q13. syndrome OMIM 606232. PMS may be caused by terminal deletions or other rearrangements affecting the distal region of or pathogenic variants within the SHANK3 SH multiple ankyrin repeat,