Phelan-McDermid Syndrome ∞ Area

Phelan-McDermid Syndrome

Meaning

Phelan-McDermid Syndrome, often abbreviated as PMS, is a rare genetic neurodevelopmental disorder resulting from a deletion on the distal long arm of chromosome 22, specifically at the 22q13.3 region. This deletion typically includes the SHANK3 gene, which is a critical determinant of the syndrome’s characteristic developmental and medical challenges.

Context

This syndrome functions within the intricate framework of human genetics and neurodevelopment. The SHANK3 gene, situated within the affected chromosomal segment, plays a pivotal role in the proper formation and maintenance of excitatory synapses in the brain, which are fundamental for effective neuronal communication. Its disruption directly impacts cognitive function and motor skill development.

Significance

Recognizing Phelan-McDermid Syndrome holds substantial clinical importance for enabling early diagnosis and targeted therapeutic interventions. Timely identification allows healthcare professionals to implement comprehensive developmental support, manage associated medical conditions, and provide essential resources, thereby significantly improving the long-term well-being and functional abilities of affected individuals.

Mechanism

The core mechanism underlying Phelan-McDermid Syndrome involves haploinsufficiency of genes within the 22q13.3 deletion, particularly the SHANK3 gene. This gene encodes a scaffolding protein crucial for the structural integrity and signaling efficiency of the postsynaptic density. Reduced levels of the SHANK3 protein impair synaptic plasticity and function, contributing directly to the neurological and developmental deficits observed in the syndrome.

Application

In clinical practice, a diagnosis of Phelan-McDermid Syndrome necessitates a comprehensive, multidisciplinary approach to patient care. This often includes individualized educational plans, speech and occupational therapies, behavioral interventions, and diligent medical management of common co-occurring conditions such as epilepsy, gastrointestinal disturbances, and sleep dysregulation, all tailored to the specific needs of the patient.

Metric

Diagnosis is definitively established through genetic testing, typically involving chromosomal microarray analysis or fluorescence in situ hybridization (FISH) to precisely identify the 22q13.3 deletion. Clinical assessment further involves detailed developmental evaluations, neurological examinations, and ongoing monitoring for the manifestation of associated medical complications, providing objective measures of the syndrome’s physiological impact.

Risk

The primary clinical risks associated with Phelan-McDermid Syndrome stem from its inherent developmental and medical sequelae, which include intellectual disability, significantly delayed or absent speech, characteristics consistent with autism spectrum disorder, and generalized hypotonia. These persistent manifestations necessitate continuous medical oversight and supportive therapies throughout an individual’s life to mitigate their impact and optimize their adaptive capabilities.

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HRTioAugust 23, 2025

Phelan-McDermid Syndrome

Meaning

Context

Significance

Mechanism

Application

Metric

Risk

Can Peptide Therapies Enhance Brain Neuroplasticity?

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