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The mystery of 22q13 deletion syndrome: What is it?!
22q13 deletion syndrome, also known as Phelan-McDermid syndrome, is a genetic disorder caused by deletions or rearrangements at the end of the q arm of chromosome 22. This condition has received widespread attention from the medical community due to its complexity and diversity, but there is some disagreement over its definition. The disease is characterized by developmental delays, intellectual disabilities, language abnormalities, and autistic behaviors, creating challenges for many families.
Affected individuals exhibit a range of medical and behavioral manifestations. Patients often exhibit global developmental delays, intellectual disability, language abnormalities, and autistic-like behaviors.
The definition of this condition is still evolving, and studies have different views on the impact of SHANK3 gene mutations. Some research teams believe that SHANK3 mutations are necessary for the diagnosis of PMS, but this is not recognized by all researchers, especially those who first described 22q13 deletion syndrome.
In addition, with the development of DNA microarray technology, the medical community is able to reveal multiple genetic problems simultaneously, making genetic testing a key tool in confirming the diagnosis of PMS. As the cost of whole-exome sequencing decreases, this technology may replace existing testing methods in the future.
Symptoms and signs
Individuals with 22q13 deletion syndrome typically present with a range of medical and behavioral characteristics. Key features include global developmental delay and impairment of language function. These symptoms may vary between patients, in part due to small sample sizes or differences in how data are collected.
Larger prospective studies are necessary to further characterize these symptoms.
In addition to developmental delays, patients may develop mild malformations and associated structural defects such as heart and kidneys. Therefore, a comprehensive evaluation of the patient is necessary.
Cause
22q13 deletion syndrome is primarily caused by a series of deletions at the end of the long arm of chromosome 22. These deletions are usually caused by de novo mutations. However, familial chromosomal transpositions may also result in inherited forms of the disease. Studies have shown that the relationship between deletion size and specific manifestations is complex, and that a small number of mutations and microdeletions can mimic the symptoms of this syndrome.
For some core traits, the size of the deletion is the main factor, and not all is caused by the deletion of the SHANK3 gene.
In addition, research also points to several other genes whose links to autism and schizophrenia also deserve further exploration.
Diagnosis and Management
Confirming the diagnosis of PMS requires genetic testing, and genetic analysis can identify the typical terminal deletion of 22q13. Professional clinical genomics assessment and diagnostic testing are also key to ensuring patients receive timely and effective treatment.
All patients should receive a comprehensive developmental, cognitive, and behavioral assessment, with further speech therapy and physical therapy provided on a case-by-case basis.
Regular follow-up in various specialty areas is critical for patients' health needs, including neurology, nephrology, cardiology, and gastroenterology, among others.
Epidemiology
Although the exact prevalence of PMS has not yet been determined, more than 1,200 people worldwide have been diagnosed with the disease, according to the Phelan-McDermid Syndrome Foundation. Of note, it has been suggested that this condition is underreported due to inadequate genetic testing and the lack of specific clinical features.
History
The first report of 22q13 deletion syndrome dates back to 1985, and in the following years, researchers continued to explore the clinical manifestations and genetic mechanisms of this syndrome in depth. With the deepening of research, the understanding of the SHANK3 gene has gradually improved, and special attention has been paid to the impact of this gene and its connection with autism.
While treatment and research are progressing, how can we provide better support and resources to patients with 22q13 deletion syndrome and their families to promote their growth and development?
