Phelan-McDermid syndrome

Phelan-McDermid syndrome (PMS) is a rare genetic condition that affects how a person's brain develops and functions, and how the body functions [2]. It is caused by a deletion or other structural change of the terminal end of chromosome 22 [1], which can lead to various physical, developmental, and behavioral problems.

Some common features of Phelan-McDermid syndrome include:

• Developmental delays: Children with PMS may experience delays in speech, language, and cognitive development [3].
• Speech and communication difficulties: Individuals with PMS often have trouble speaking, understanding language, and communicating effectively [4].
• Autism spectrum disorder (ASD): Many people with PMS also have ASD, which can affect their social interactions, behavior, and communication skills [5].
• Physical characteristics: Some individuals with PMS may have physical features such as a long face, large hands and feet, or other distinctive physical traits [6].
• Global developmental delay: Phelan-McDermid syndrome is characterized by neonatal hypotonia (low muscle tone), global developmental delay, normal to accelerated growth, absent to severely delayed speech, and variable intellectual disability [7].

Phelan-McDermid syndrome can also impact mobility and cognitive development, making everyday tasks challenging for those affected [8]. The genetic change or mutation that causes PMS can vary in severity, leading to a range of symptoms and effects on individuals with the condition.

References: [1] Jan 19, 2022 — Phelan-McDermid syndrome (PMS) is a rare genetic condition caused by a deletion or other structural change of the terminal end of chromosome 22 ... [2] Phelan-McDermid syndrome is a rare genetic disorder that affects how a person's brain develops and functions, and how the body functions. [3] May 20, 2022 — Phelan-McDermid syndrome is a rare disorder caused by a chromosomal deletion. It often involves speech and developmental delays and autism ... [4] May 19, 2018 — Phelan-McDermid syndrome (PMS) is a rare genetic condition that causes developmental and speech delays, behavioral problems and a weakened or no ... [5] Phelan-McDermid syndrome (PMS) is a rare genetic disorder. It has two potential causes. The first cause is the deletion of part of chromosome 22. [6] 22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome, is a disorder caused by the loss of a small piece of chromosome 22. [7] A rare genetic neurodevelopmental disorder characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely ... [8] Nov 18, 2022 — Phelan-McDermid syndrome is a rare genetic condition impacting speech, mobility, and cognitive development. It typically occurs due to an ... [9] Phelan-McDermid syndrome is a rare genetic condition. Children with this syndrome have a genetic change or mutation that causes developmental delays.

Phelan-McDermid syndrome (PMS) is a rare genetic condition that affects various aspects of an individual's development, including physical characteristics, cognitive abilities, and behavior.

Physical Characteristics:

• Deep-set eyes
• Drooping eyelids (ptosis)
• Large or stick-out ears
• Fusion of the eyelids (blepharophimosis) [1]
• Bulbous nose
• Flat midface
• Full, puffy cheeks
• Large, prominent ears [6]

Developmental and Cognitive Delays:

• Moderate to severe intellectual disabilities [3]
• Speech delays or problems [3]
• Low or weak muscle tone (hypotonia) [5]
• Delay in reaching developmental milestones [5]

Behavioral Issues:

• Behavioral issues including autism spectrum disorder or autistic-like traits [2]
• Decreased perception of pain [2]

Other Characteristics:

• Long eye lashes
• Relatively large hands
• Dysplastic toenails
• Full brow
• Dolicocephaly (long head shape)
• Full cheeks

It's essential to note that every individual with Phelan-McDermid syndrome may exhibit a unique combination of these characteristics, and the severity of symptoms can vary widely. If you or someone you know is suspected of having PMS, it's crucial to consult with a qualified healthcare professional for an accurate diagnosis and guidance.

References: [1] - Context result 1 [2] - Context result 2 [3] - Context result 3 [5] - Context result 5 [6] - Context result 6

Phelan-McDermid syndrome (PMS) is a rare genetic disorder that can be diagnosed through various tests. Here are the diagnostic tests commonly used to diagnose PMS:

• Chromosomal Microarray Analysis (CMA): This test is often considered the first tier of testing for PMS. It detects whether genetic material is missing or duplicated, and a deletion of DNA in the 22q13 region indicates a diagnosis of PMS [7].
• Chromosome Structural Analysis: This test is also used to diagnose PMS, particularly when CMA results are inconclusive [4].
• Gene Testing (Genome Sequencing, Exome Sequencing): Detection of pathogenic variants of SHANK3 requires gene testing, which can be done through genome sequencing or exome sequencing [5].

These tests are designed to detect the chromosomal deletion that causes PMS. It's essential to note that a diagnosis of PMS is typically made based on a combination of clinical features and laboratory results.

Types of Tests Used

• Chromosomal Microarray Analysis (CMA)
• Chromosome Structural Analysis
• Gene Testing (Genome Sequencing, Exome Sequencing)

References:

[1] - These tests are most commonly used to diagnose Phelan-McDermid syndrome (PMS):. [4] - Three types of tests are most commonly used to diagnose Phelan-McDermid syndrome. [5] - Detection of pathogenic variants of SHANK3 requires gene testing (genome sequencing, exome ... [7] - This test detects whether genetic material is missing or duplicated. A deletion of DNA in the 22q13 region indicates a diagnosis of PMS.

Phelan-McDermid syndrome (PMS) is a rare genetic disorder that affects various aspects of an individual's life, including their physical and behavioral development. While there is no cure for PMS, research has shown that certain medications can help manage its symptoms.

Medications Used to Treat PMS Symptoms

Several studies have investigated the effectiveness of various medications in treating PMS symptoms. Some of these include:

• Risperidone: This medication has been found to produce significant improvement in behavioral problems associated with PMS [7][8]. A study published in 2023 also showed that risperidone normalized the VMR (ventral midbrain reward) in shank3 models, suggesting its potential in treating PMS symptoms [5].
• Insulin-like growth factor 1 (IGF-1): Research has suggested that IGF-1 may improve motor skills in children with PMS. A new measure of motor skills indicates that IGF-1 can enhance movement in these individuals [4].

Other Potential Treatments

While there is currently no cure for PMS, researchers are exploring other potential treatments to address its symptoms. For example:

• Trofinetide: This breakthrough drug was approved last year for treating Rett syndrome, another rare genetic disorder. Research suggests that Trofinetide may also be helpful in treating PMS [2].
• JB2: A study published in 2024 tested the effectiveness of JB2, a drug hypothesized to be beneficial in PMS treatment. The results showed promise, but further research is needed to confirm its efficacy [3].

Individualized Treatment Plans

It's essential to note that individuals with PMS may require different treatments, and the same person might need multiple types of treatments over time [1]. A comprehensive approach, taking into account each individual's unique needs and circumstances, can help maximize their ability to function well.

References:

[1] Educational Materials. [2] Feb 2, 2024 — [3] The research team hypothesized their drug could be helpful in Phelan-McDermid syndrome. They tested this by injecting JB2 into mice modeling Phelan-McDermid ... [4] A new measure of motor skills suggests that insulin-like growth factor 1 (IGF-1) improves movement in children with Phelan-McDermid syndrome. [5] by RA Kozol · 2023 · Cited by 1 — Results: We found that risperidone normalized the VMR in shank3 models. LiCl and CBZ had no effect on the VMR in any of the three genotypes. [7] Jul 29, 2022 — There are several reports of treatment of PMS patients using several medications. Risperidone produced significant improvement in behavioral problems. [8] May 20, 2022 — There's no cure for Phelan-McDermid syndrome. Treatment aims to address your child's symptoms, maximize their ability to function well and ...

Phelan-McDermid syndrome (PMS) is a rare genetic disorder that can be challenging to diagnose due to its overlapping symptoms with other conditions. The differential diagnosis for PMS includes several syndromes and disorders that present with similar characteristics, such as:

• Hypotonia: A condition characterized by low muscle tone, which is often seen in PMS.
• Developmental delay: Children with PMS may experience delays in reaching developmental milestones, such as sitting, standing, or walking.
• Speech delay: Individuals with PMS may have difficulties with speech and language development.
• Autistic-like behavior: Some people with PMS may exhibit behaviors that are similar to those seen in autism spectrum disorder (ASD).
• Prader-Willi syndrome: A genetic disorder that affects physical, cognitive, and behavioral development.
• Angelman syndrome: A rare genetic disorder characterized by developmental delays, speech difficulties, and intellectual disability.
• Williams syndrome: A genetic disorder that affects physical and cognitive development.
• Smith-Magenis syndrome: A rare genetic disorder that affects physical, cognitive, and behavioral development.
• Fragile X syndrome: A genetic disorder that causes intellectual disability, behavioral problems, and physical characteristics.
• Sotos syndrome: A rare genetic disorder characterized by rapid growth in childhood and intellectual disability.
• FG syndrome: A rare genetic disorder that affects physical and cognitive development.
• Velocardiofacial syndrome: A genetic disorder that affects heart development and may also cause developmental delays and speech difficulties.

These conditions can be considered as part of the differential diagnosis for Phelan-McDermid syndrome, especially when a child presents with symptoms such as hypotonia, developmental delay, speech delay, or autistic-like behavior [2][3][4].

It's essential to note that PMS is caused by a chromosomal deletion or a defect in the SHANK3 gene, which can be detected through genetic testing. A comprehensive diagnostic evaluation, including physical examination, medical history, and genetic testing, is necessary to confirm the diagnosis of PMS [5][6][7].

References:

[1] United States government website: Disorders to Consider in the Differential Diagnosis of Phelan-McDermid Syndrome.

[2] Hao Y, Liu Y, Yang J, Li X, Luo F, Geng Q, Li S, Li P. (2020). Prenatal and postnatal diagnosis of Phelan-McDermid syndrome: A report of 21 cases from a medical center and review of the literature.

[3] hybridisation (FISH) may detect larger deletions. If a diagnosis of Phelan-McDermid syndrome is suspected, but no deletion of 22q13 is detected through microarray, targeted DNA sequencing may detect mutations of the SHANK3 gene.

[4] Background. Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by psychiatric and neurological features.

[5] Phelan–McDermid syndrome (PMS) is a genetic condition caused by SHANK3 hap-loinsufficiency and characterized by a wide range of neurodevelopmental and sys-temic manifestations.

[6] The first practice parameters for assessment and monitoring in individuals with PMS were published in 2014; recently, knowledge about PMS has