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Which are the symptoms of 22q13 deletion / Phelan-McDermid Syndrome?

See the worst symptoms of affected by 22q13 deletion / Phelan-McDermid Syndrome here

22q13 deletion / Phelan-McDermid Syndrome symptoms

Symptoms of 22q13 Deletion / Phelan-McDermid Syndrome


22q13 deletion syndrome, also known as Phelan-McDermid Syndrome (PMS), is a rare genetic disorder caused by the deletion or loss of a small piece of chromosome 22. This syndrome is characterized by a wide range of symptoms that can vary in severity from person to person. Individuals with 22q13 deletion syndrome often experience developmental delays, intellectual disabilities, and exhibit certain physical and behavioral characteristics.



Developmental Delays


One of the primary symptoms of 22q13 deletion syndrome is developmental delays. Infants and children with this condition may have delayed motor skills, such as sitting, crawling, or walking. They may also have delayed speech and language development, struggling to communicate effectively. These delays can significantly impact their overall development and may require early intervention and specialized therapies.



Intellectual Disabilities


Individuals with 22q13 deletion syndrome typically have varying degrees of intellectual disabilities. The severity can range from mild to profound, affecting their cognitive abilities, learning, and problem-solving skills. Intellectual disabilities can impact their educational progress and may require tailored educational programs and support to help them reach their full potential.



Speech and Language Difficulties


Speech and language difficulties are common in individuals with 22q13 deletion syndrome. They may have limited vocabulary, difficulty forming sentences, and struggle with articulation and pronunciation. Some individuals may be nonverbal and rely on alternative forms of communication, such as sign language or augmentative and alternative communication (AAC) devices.



Behavioral Characteristics


Individuals with 22q13 deletion syndrome often exhibit certain behavioral characteristics. They may have social and communication challenges, finding it difficult to interact and engage with others. Some individuals may display repetitive behaviors, such as hand-flapping or rocking. They may also have sensory sensitivities, being overly sensitive or under-responsive to certain sensory stimuli.



Autism Spectrum Disorder


A significant number of individuals with 22q13 deletion syndrome also meet the criteria for Autism Spectrum Disorder (ASD). ASD is a neurodevelopmental disorder characterized by difficulties in social interaction, communication, and the presence of repetitive behaviors. The co-occurrence of ASD in individuals with 22q13 deletion syndrome can further impact their overall development and require additional support and interventions.



Physical Features


While the physical features of 22q13 deletion syndrome can vary, some individuals may exhibit certain characteristic traits. These can include a long face, large ears, deep-set eyes, and a pointed chin. They may also have low muscle tone (hypotonia) and joint hypermobility. However, it is important to note that not all individuals with 22q13 deletion syndrome will have these physical features.



Other Possible Symptoms


In addition to the core symptoms mentioned above, individuals with 22q13 deletion syndrome may also experience other associated symptoms. These can include seizures, sleep disturbances, gastrointestinal issues, feeding difficulties, and delayed or absent puberty. It is important to note that not all individuals will experience these additional symptoms, and the severity can vary.



Conclusion


22q13 deletion syndrome, or Phelan-McDermid Syndrome, is a complex genetic disorder that presents with a wide range of symptoms. Developmental delays, intellectual disabilities, speech and language difficulties, behavioral characteristics, and the potential co-occurrence of Autism Spectrum Disorder are some of the key features of this syndrome. While individuals with 22q13 deletion syndrome may share certain physical traits, it is important to remember that each person is unique and may present with a different combination and severity of symptoms. Early diagnosis, intervention, and ongoing support are crucial in helping individuals with 22q13 deletion syndrome reach their full potential and improve their quality of life.


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22Q13 DELETION / PHELAN-MCDERMID SYNDROME STORIES
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22q13 deletion / Phelan-McDermid Syndrome stories
I struggled with vision all my life. I was diagnosed with some colored blindness, near sidedness, and astigmatism. Then in 2013 cataracts was added to the mix. In 2015 I was wrongly diagnosed with having AMD and recommended I have cataracts removed a...

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