Stolerman neurodevelopmental syndrome

Stolerman neurodevelopmental syndrome (NEDSST) is a highly variable disorder characterized by developmental delay, often with motor and speech delay [1]. It can also be associated with global developmental delay, variable intellectual disability, poor language acquisition, and dysmorphic facial features [3][5].

The symptoms of NEDSST can vary widely among affected individuals. Some common characteristics include:

• Developmental delay: Children with NEDSST may experience delays in reaching certain milestones, such as sitting, standing, or speaking [1][2].
• Motor and speech delay: Many individuals with NEDSST have difficulties with motor skills, such as walking or using their hands, and may also experience speech delays [1][4].
• Intellectual disability: Some people with NEDSST may have intellectual disabilities, which can range from mild to severe [3][5].
• Dysmorphic facial features: Individuals with NEDSST may have distinctive facial features that are not typical of the general population [3][7].

It's essential to note that Stolerman neurodevelopmental syndrome is a rare disorder, and its symptoms can vary widely among affected individuals. A comprehensive diagnosis by a qualified healthcare professional is necessary for an accurate understanding of the condition.

References: [1] - Search result 1 [2] - Search result 4 [3] - Search result 5 [4] - Search result 6 [7] - Search result 7

Stolerman Neurodevelopmental Syndrome: Signs and Symptoms

Stolerman neurodevelopmental syndrome, also known as KDM6B-related syndrome or NEDCFSA, is a highly variable disorder characterized by various signs and symptoms. The following are some of the common features associated with this condition:

• Developmental Delay: Individuals with Stolerman neurodevelopmental syndrome often experience developmental delay, which can manifest as delayed speech, motor skills, and cognitive development [1][3].
• Motor and Speech Delay: Many people with this condition exhibit motor and speech delay, which can range from mild to severe [1][3].
• Mildly Impaired Intellectual Development: Most individuals with Stolerman neurodevelopmental syndrome have mildly impaired intellectual development, although some may experience more significant cognitive difficulties [1][3].
• Learning Difficulties: People with this condition often face learning difficulties and may require special educational support [1][3].
• Behavioral Abnormalities: Behavioral abnormalities, including autism spectrum disorder, are common in individuals with Stolerman neurodevelopmental syndrome [1][3].
• Psychosis: In some cases, psychosis may occur in individuals over 12 years old [11][13].

Additional Features

Other features associated with Stolerman neurodevelopmental syndrome include:

• Agenesis of permanent teeth
• Cleft soft palate
• Deep philtrum
• Delayed eruption of teeth
• Dental crowding
• Depressed nasal bridge
• Downturned corners of the mouth

It's essential to note that the severity and presentation of Stolerman neurodevelopmental syndrome can vary significantly among individuals, making it crucial for accurate diagnosis and tailored support.

References:

[1] - Context result 3: Stolerman neurodevelopmental syndrome (NEDSST) is a highly variable disorder characterized by developmental delay, often with motor and speech delay...

[3] - Context result 11: Stolerman neurodevelopmental syndrome (NEDSST) is a highly variable disorder characterized by developmental delay, motor and speech delay, mildly impaired intellectual development...

[11] - Context result 13: Stolerman neurodevelopmental syndrome (NEDSST) is a highly variable disorder characterized by developmental delay, often with motor and speech delay, mildly impaired intellectual development...

Based on the provided context, here are some diagnostic tests that may be relevant for Stolerman neurodevelopmental syndrome:

• Genetic testing: Genetic testing can determine the cause of neurodevelopmental disorders like autism spectrum disorder, which is associated with Stolerman neurodevelopmental syndrome (see [15]). This type of testing can identify genetic mutations or variations that contribute to the development of the condition.
• Specific tests such as the Gilliam Autism Rating Scale: This test can help assess symptoms and behaviors associated with autism spectrum disorder, which is a related condition to Stolerman neurodevelopmental syndrome (see [9]).
• Goodenough-Harris scoring of a human figure drawing: This test can estimate cognitive level, tap emotional functioning, and screen graphomotor abilities, which may be relevant for assessing individuals with Stolerman neurodevelopmental syndrome (see [9]).
• Short Sensory Profile: This test can help assess sensory processing problems in kindergarteners, which may be relevant for individuals with Stolerman neurodevelopmental syndrome (see [9]).

It's worth noting that the diagnostic process for Stolerman neurodevelopmental syndrome is not well-defined and may involve a combination of these tests, as well as other clinical evaluations. A comprehensive evaluation by a qualified healthcare professional is necessary to determine the best course of action for diagnosis and treatment.

References:

• [9] - Goodenough-Harris scoring of a human figure drawing can estimate cognitive level, tap emotional functioning, and screen graphomotor abilities.
• [15] - Genetic testing can determine the cause of neurodevelopmental disorders like autism spectrum disorder.

Based on the provided context, it appears that there is limited information available on the drug treatment of Stolerman neurodevelopmental syndrome (NEDSST). However, I can provide some insights based on the search results.

• According to search result 3, a study has been conducted on the KDM6B gene, which is associated with NEDSST. The study involved whole exome sequencing and identified de novo alterations in the KDM6B gene in patients with NEDSST.
• However, there is no specific information available on the drug treatment of NEDSST. It's possible that the condition may not have a specific pharmacological treatment, or it may be under investigation.

It's worth noting that search result 3 mentions Pentylenetetrazole as a study completion target for GABAA receptor, but there is no clear connection between this and the drug treatment of NEDSST. Further research would be needed to determine if this has any relevance to the condition.

In summary, while there may not be specific information available on the drug treatment of Stolerman neurodevelopmental syndrome, it's possible that ongoing research may shed more light on potential treatments in the future.

• The KDM6B gene is associated with NEDSST [4].
• There is no specific information available on the drug treatment of NEDSST [no direct citation].
• Pentylenetetrazole is a study completion target for GABAA receptor, but its relevance to NEDSST is unclear [3].

Stolerman neurodevelopmental syndrome, also known as KDM6B-related syndrome or Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities (NEDCFSA), is a highly variable disorder that can be challenging to diagnose. Here are some key points to consider for differential diagnosis:

• Autism Spectrum Disorder (ASD): Stolerman neurodevelopmental syndrome often presents with autism spectrum disorder, which should be considered in the differential diagnosis.
• Rett Syndrome: Rett syndrome is a neurodevelopmental disorder that can present with similar symptoms, such as developmental delay and regression. However, Rett syndrome typically involves more severe intellectual disability and distinctive hand movements (e.g., hand wringing).
• CHD8-related neurodevelopmental disorder with overgrowth (CHD8-NDD): This condition is characterized by generalized overgrowth, developmental delay/intellectual disability, autism spectrum disorder, neuropsychiatric issues, neurologic problems, sleep disturbance, and gastrointestinal issues. While it shares some similarities with Stolerman neurodevelopmental syndrome, CHD8-NDD typically involves more pronounced overgrowth and distinct facial features.
• Neurodevelopmental Conditions: Other neurodevelopmental conditions, such as intellectual disability, learning disabilities, and behavioral abnormalities, should also be considered in the differential diagnosis.

To differentiate Stolerman neurodevelopmental syndrome from these conditions, clinicians may consider the following:

• Genetic testing: Genetic testing can help identify mutations in the KDM6B gene, which is associated with Stolerman neurodevelopmental syndrome.
• Clinical history and phenotypic features: A thorough clinical history and examination can help identify distinctive features of Stolerman neurodevelopmental syndrome, such as coarse facies and mild distal skeletal abnormalities.
• Behavioral and developmental assessments: Comprehensive behavioral and developmental assessments can help differentiate Stolerman neurodevelopmental syndrome from other conditions.

It is essential to consult with a qualified healthcare professional for an accurate diagnosis and differential diagnosis of Stolerman neurodevelopmental syndrome.