Vulto-van Silfout-de Vries syndrome

Vulto-van Silfout-de Vries Syndrome (VSVS) Description

Vulto-van Silfout-de Vries syndrome, also known as autosomal dominant mental retardation-24 (MRD24), is a rare intellectual developmental disorder characterized by:

• Delayed psychomotor development: Children with VSVS often experience delayed physical and cognitive development.
• Poor expressive speech: Individuals with VSVS may have difficulty speaking or expressing themselves effectively.
• Behavioral abnormalities: VSVS is associated with behavioral issues, including autistic features and poor eye contact.
• Hypotonia and gait abnormalities: Many patients with VSVS experience low muscle tone (hypotonia) and difficulties with walking or balance (gait abnormalities).
• Seizures: Some individuals with VSVS may develop seizures, which can be refractory (difficult to treat).

These symptoms can vary in severity and impact the individual's quality of life. The syndrome is caused by a mutation in the DEAF1 gene located on chromosome 11p15.5.

References:

• [2] Description of VSVS as an intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities.
• [6] VSVS described as an intellectual developmental disorder with delayed psychomotor development, poor expressive speech, and behavioral abnormalities.
• [11] Detailed description of VSVS symptoms, including hypotonia, gait abnormalities, seizures, and autistic features.
• [13] Summary of VSVS characteristics, including delayed psychomotor development, poor expressive speech, and behavioral abnormalities.

Vulto-van Silfout-de Vries Syndrome (VSVS) Signs and Symptoms

VSVS is a rare intellectual developmental disorder characterized by several distinct signs and symptoms. Some of the key features include:

• Intellectual Disability: Individuals with VSVS often experience varying levels of intellectual disability, ranging from mild to severe.
• Delayed Psychomotor Development: Delayed psychomotor development is a common feature, which can manifest as delayed speech, language, or cognitive skills.
• Poor Expressive Speech: Many individuals with VSVS struggle with expressive speech, making it difficult for them to communicate effectively.
• Behavioral Problems: Behavioral problems such as hyperactivity, compulsivity, and aggression are also prevalent in individuals with VSVS.
• Epileptic Seizures: Epileptic seizures have been reported in some cases of VSVS, which can be challenging to treat.
• Growth Retardation: Growth retardation and cachexia (a condition characterized by weight loss and muscle wasting) are also associated with VSVS.

Additional Features

Some additional features that may be present in individuals with VSVS include:

• Sleep Disturbances: Sleep disturbances have been reported in some cases of VSVS.
• High Pain Threshold: Individuals with VSVS may have a high pain threshold, making it difficult to manage pain-related issues.

References

• [1] Delayed psychomotor development and poor expressive speech are common features of VSVS (2, 3).
• [4] Epileptic seizures and growth retardation are also associated with VSVS (5).
• [6] Behavioral problems such as hyperactivity and aggression are prevalent in individuals with VSVS (7).
• [8] Intellectual disability is a major clinical phenotype of VSVS (9).

Diagnostic Tests for Vulto-Van Silfhout-De Vries Syndrome

Vulto-Van Silfhout-De Vries Syndrome (VSVS) is a rare genetic disorder characterized by intellectual disability, poor speech, motor delay, and autistic features. Diagnostic tests are essential to confirm the presence of this condition.

Available Tests

According to available information [1], there are 15 clinical tests in the database for VSVS. These tests include:

• Molecular Genetics Tests
• Genetic tests related to Vulto-Van Silfhout-De Vries Syndrome, such as Mental retardation, autosomal dominant 24 (MRD24) [5]

Genetic Testing

Genetic testing is a crucial diagnostic tool for VSVS. While there are no specific genetic tests mentioned in the context, it is essential to consider genetic testing as part of the diagnostic process.

• Whole-Exome Sequencing (WES) has been conducted to identify genetic variants associated with VSVS [9]
• PolyPhen-2, SIFT, Provean, Mutation Taster, and other prediction tools have been used to analyze the effect of DEAF1 variants on the phenotype of patients with autosomal dominant and recessive inheritance patterns [10]

Clinical Evaluation

A comprehensive clinical evaluation is necessary to diagnose VSVS. This includes:

• Intellectual disability and poor speech
• Motor delay and autistic features
• Delayed psychomotor development [4]
• Seriously limited language and intellectual disability (ID) or global developmental delay (GDD) [3]

It's essential to consult with a geneticist, neurologist, or other relevant specialists for an accurate diagnosis.

References:

[1] Available tests. 15 tests are in the database for this condition. [3] by H Zhu · 2023 · Cited by 1 — VSVS is characterized by mild to severe intellectual disability (ID) and/or global developmental delay (GDD), seriously limited language ... [4] Vulto-van Silfout-de Vries syndrome (VSVS) is an intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, ... [5] Genetic tests related with Vulto-Van Silfhout-De Vries Syndrome ; 1, Mental retardation, autosomal dominant 24, 615828, Autosomal dominant; MRD24 (Autosomal ... [9] by H Zhu · 2023 · Cited by 1 — WES was conducted and the methods have been described in detail in previous studies (12). PolyPhen-2, SIFT, Provean, Mutation Taster, and ... [10] by MJN Sá · 2019 · Cited by 33 — To investigate the effect of different DEAF1 variants on the phenotype of patients with autosomal dominant and recessive inheritance patterns and on DEAF1 ...

Treatment Options for Vulto-van Silfout-de Vries Syndrome

Vulto-van Silfout-de Vries syndrome (VSVS) is a rare genetic disorder characterized by intellectual disability, poor speech, motor delay, and autistic features. While there is no cure for VSVS, various treatment options can help manage its symptoms.

Medications

• Valproic Acid: This medication has been reported to be effective in controlling seizures associated with VSVS [1][2]. In one case study, a child's seizures were well-controlled after valproic acid therapy [8].
• Antibacterial and Symptomatic Therapy: In addition to valproic acid, antibacterial and symptomatic therapy may be used to correct water-electrolyte disturbances due to long-term persistent vomiting or diarrhea [9].

Other Therapies

• Speech and Language Therapy: Individuals with VSVS often experience poor expressive speech. Speech and language therapy can help improve communication skills.
• Occupational and Physical Therapy: These therapies can aid in developing motor skills and improving daily functioning.

Genetic Counseling

• Genetic Testing: Genetic testing can confirm the presence of a DEAF1 gene mutation, which is associated with VSVS [7].

It's essential to note that each individual with VSVS may require a unique treatment plan. A healthcare professional should be consulted for personalized advice and care.

References:

[1] by H Zhu · 2023 · Cited by 1 — Owing to the seizures of VSVS being ordinarily generalized, valproic acid could be the first choice in AEDs (1).

[2] by H Zhu · 2023 · Cited by 1 — His seizures were under treatment with valproic acid monotherapy that was started at 3 years of age and were well-controlled during the 2.1 ...

[7] by MJN Sá · 2019 · Cited by 33 — Pathogenic variants in the DEAF1 gene have been reported to lead to two clinically distinct intellectual disability (ID) syndromes: ...

[8] by H Zhu · 2023 · Cited by 1 — At a follow-up of 2.1 years, his seizures were well controlled after valproic acid therapy.

[9] by N Bodunova · 2022 · Cited by 2 — The patient's treatment included antibacterial and symptomatic therapy to correct water-electrolyte disturbances due to long-term persistent ...

Differential Diagnosis of Vulto-van Silfout-de Vries Syndrome (VSVS)

Vulto-van Silfout-de Vries syndrome (VSVS) is a rare intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and other specific features. When diagnosing VSVS, it's essential to consider differential diagnoses that may present with similar symptoms.

Possible Differential Diagnoses:

• Intellectual Disability: Mild to severe intellectual disability (ID) and/or global developmental delay (GDD) are common in VSVS. However, other conditions like Down syndrome, Fragile X syndrome, or autism spectrum disorder (ASD) may also present with similar symptoms.
• Epileptic Encephalopathy: Pseudomembranous colitis associated with Clostridioides difficile (Toxin A and B) can be a feature of VSVS. Other conditions like epilepsy or encephalopathy may also need to be ruled out.
• Autism Spectrum Disorder (ASD): ASD is characterized by delayed psychomotor development, poor expressive speech, and other specific features. However, VSVS has distinct clinical phenotypes that differentiate it from ASD.

Key Features to Distinguish VSVS:

• Delayed Psychomotor Development: VSVS is characterized by delayed psychomotor development, which may be a feature of other conditions like intellectual disability or autism spectrum disorder.
• Poor Expressive Speech: Poor expressive speech is a hallmark of VSVS. However, other conditions like Down syndrome or Fragile X syndrome may also present with similar symptoms.
• Nonspecific Features: Hypotonia and gait abnormalities are common in VSVS. Other nonspecific features like seizures, high pain threshold, and behavioral problems (hyperactive, compulsive, and/or aggressive behavior) may also need to be considered.

References:

• [1] Vulto-van Silfout-de Vries syndrome is an intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and other specific features. [5]
• [2] Intellectual disability (ID) and/or global developmental delay (GDD) are common in VSVS. [8]
• [3] Pseudomembranous colitis associated with Clostridioides difficile (Toxin A and B) can be a feature of VSVS. [1]
• [4] Behavioral problems consisted of hyperactive, compulsive, and/or aggressive behavior; fascination with water; and striking mood swings are features of VSVS. [4]

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